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Medizinisches Versorgungszentrum - MVZ

Molekulargenetisches Labor der Sektion Pädiatrische Genetik

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Molekulargenetische Untersuchungen

Gene

Gen

Krankheit

ABCC8+del

Diabetes mellitus, noninsulin-dependent

 

Diabetes mellitus, permanent neonatal

 

Diabetes mellitus, transient neonatal 2

 

Hyperinsulinemic hypoglycemia, familial, 1

 

Hypoglycemia of infancy, leucine-sensitive

ACADM (=MCAD)+del

Acyl-CoA dehydrogenase medium chain deficiency (ACADM)

ACADVL (=VLCAD)

Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD)

ACAN

Osteochondritis dissecans, short stature, and early-onset osteoarthritis (OD)

 

Spondyloepimetaphyseal dysplasia (SEDM), aggrecan type

 

Spondyloepiphyseal dysplasia, Kimberley type (SEDK)

ACP5

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)

ACTA2

Aortic aneurysm, familial thoracic 6 (AAT6)

 

Congenital mydriasis

 

Moyamoya disease 5 (MYMY5)

 

Multisystemic smooth muscle dysfunction syndrome

ACVR1

Fibrodysplasia ossificans progressiva (FOP)

ADAMTSL2

Geleophysic dysplasia (GLPD)

AGPAT2+del

Lipodystrophy, congenital generalized, type 1 (CGL1)

AKT1

Breast cancer, somatic (BC)

 

Colorectal cancer, somatic (CRC) (= Colon cancer)

 

Ovarian cancer, somatic (OC)

 

Proteus syndrome, somatic (PROTEUSS)

 

Schizophrenia, susceptibility to

ALDOB+del

Fructose intolerance, hereditary (HFI)

ALPL (=TNSALP)+del

Hypophosphatasia (HOPS), adult, childhood, infantile or perinatal lethal

 

Odontohypophosphatasia

ALX4+del

foramina parietalia permagna (FPP)

 

frontonasal dysplasia type 2 (FND2)

 

parietal foramina 2 (PFM2)

 

Potocki-Shaffer syndrome (PSS) (= 11p11.2 deletion syndrome)

ANTXR1 (=TEM8)

Hemangioma, capillary infantile, susceptibility to (HCI)

ANTXR2 (=CMG2)

infantile systemic hyalinosis (ISH)

 

juvenile hyaline fibromatosis (JHF)

APC+del+dup

Adenoma, periampullary, somatic

 

Adenomatous polyposis coli, familial (FAP)

 

Brain tumor-polyposis syndrome 2 (Gardner syndrome (GS))

 

Colorectal cancer, somatic (CRC)

 

Desmoid disease, hereditary (HDD)

 

Gastric cancer, somatic

 

Hepatoblastoma, somatic

 

Medulloblastoma (MDB), somatic

APOC2+del

Apolipoprotein C-II deficiency

ARSE+del

X-linked recessive chondrodysplasia punctata type 1 (CPXR1)

ARTEMIS (offiz. DCLRE1C)+del

Omenn syndrome (Reticuloendotheliosis, familial, with eosinophilia)

 

severe combined immunodeficiency Athabaskan-type (SCIDA)

 

severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID)

ARX+del+dup

Corpus callosum, agenesis of (ACC), with abnormal genitalia (Proud syndrome)

 

Epileptic encephalopathy, early infantile, 1 (EIEE1) (West syndrome, X-linked)

 

Hydranencephaly with abnormal genitalia

 

Lissencephaly, X-linked 2 (LISX2) (Lissencephaly, X-linked, with ambiguous genitalia (XLAG))

 

Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX)

 

Partington X-linked mental retardation syndrome (PRTS)

ATL1+del

Neuropathy, hereditary sensory, type ID (HSN1D)

 

Spastic paraplegia-3A (SPG3A) (Strumpell-Lorrain syndrome)

ATP6V0A2+del

Cutis laxa, autosomal recessive, type IIA (ARCL2A)

 

Wrinkly skin syndrome (WSS)

ATP7A+del+dup

Menkes disease (= Kinky hair disease)

 

Occipital horn syndrome (OHS)

 

Spinal muscular atrophy, distal, X-linked 3 (SMAX3)

ATRX+del+dup

Alpha-thalassemia myelodysplasia syndrome (ATMDS)

 

Alpha-thalassemia/mental retardation syndrome, X-linked (ATRX)

 

Mental retardation-hypotonic facies syndrome, X-linked (MRXHF1)

Gen

Krankheit

B3GALT6

Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2)

 

Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (SEMDJL1)

B3GALTL+del

Peters-plus syndrome (PpS)

B4GALT7

Ehlers-Danlos syndrome, progeroid form (EDSP)

BARX2

Role in chondrogenesis, myoblast fusion, ocular gland branching, muscle growth and regeneration

BCOR+del

Microphthalmia, syndromic 1 (MCOPS1)

BCOR+del

Microphthalmia, syndromic 2 (MCOPS2)

BMP1

Osteogenesis imperfecta,autosomal recessive

BMP2+del+dup

Brachydactyly, type A2 (BDA2)

 

HFE hemochromatosis, modifier of

BMP4

Congenital 'healed' cleft lip (CHCL)

 

Microphthalmia, syndromic 6 (MCOPS6)

 

orofacial cleft type 11 (OFC11)

BMPR1A+del

Juvenile polyposis of stomach

 

Juvenile polyposis syndrome (JPS)

 

Polyposis syndrome, hereditary mixed, 2 (HMPS2)

BMPR1Adel

Chromosome 10q23 deletion syndrome

 

Juvenile polyposis of infancy

BMPR1B

acromesomelic chondrodysplasia with genital anomalies (AMDGA)

 

brachydactyly, type A2 (BDA2)

BRAF

Adenocarcinoma of lung, somatic

 

Cardiofaciocutaneous syndrome (CFC syndrome)

 

Colorectal cancer, somatic (CRC)

 

LEOPARD syndrome 3

 

Melanoma, malignant, somatic

 

Nonsmall cell lung cancer, somatic

 

Noonan syndrome 7

BSCL2+del

Lipodystrophy, congenital generalized, type 2 (CGL2) (Berardinelli-Seip congenital lipodystrophy, type 2)

 

Neuronopathy, distal hereditary motor, type VA (HMN5A)

 

Spastic paraplegia 17, autosomal dominant (SPG17) (Silver snydrome)

Gen

Krankheit

C1NH (offiz. SERPING1)+del

Angioedema, hereditary, type I (HAE1) (C1 esterase inhibitor, deficiency of)

 

Angioedema, hereditary, type II (HAE2)

 

Complement component 4 (C4), partial deficiency of

C6ST1 (offiz. CHST3)

Larsen syndrome, autosomal recessive

 

Spondyloepiphyseal dysplasia with congenital joint dislocations (SED Omani type)

C7orf10

Glutaric aciduria III (GA3) (Glutaryl-CoA oxidase deficiency)

C8B

Complement component 8 deficiency, type II (C8D2)

C16orf57 (offiz. USB1)

Poikiloderma with neutropenia (PN) (Poikiloderma with neutropenia, Clericuzio-type)

CANT1+del

Desbuquois dysplasia (DBQD)

CAV1

Lipodystrophy, congenital generalized, type 3 (CGL3) (Berardinelli-Seip congenital lipodystrophy, type 3)

 

Pulmonary hypertension, primary, 3 (PPH3)

CBL

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSL)

CCDC8

3M syndrome-3 (3M3)

CD96

C syndrome (CSYN) (Opitz trigonocephaly syndrome)

 

C-like syndrome (CLSYN) (Opitz trigonocephaly-like syndrome)

CDK1 (=CDC2)

Schlüsselrolle bei der Zellzyklus-Kontrolle

CDKL5+del+dup

Angelman syndrome-like

 

Epileptic encephalopathy, early infantile, 2 (EIEE2) (Rett syndrome, atypical, CDKL5-related)

CDKN1C+dup

Beckwith-Wiedemann syndrome (BWS)

 

IMAGE (Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome

CDMP1 (offiz. GDF5)

Acromesomelic dysplasia, Hunter-Thompson type (AMDH)

 

Brachydactyly, type A2 (BDA2) (=Brachymesophalangy II)

 

Brachydactyly, type C (BDC) (Brachydactyly, Haws type)

 

Chondrodysplasia, Grebe type

 

Fibular hypoplasia and complex brachydactyly (Du Pan syndrome (DPS))

 

Multiple synostoses syndrome 2 (SYNS2)

 

Osteoarthritis susceptibility 5 (OS5)

 

Symphalangism, proximal (SYM1) (Cushing symphalangism)

CEBPA

Leukemia, acute myeloid

CEP19

Obesity, morbide

CGKI (offiz. PRKG1)

nitric oxide/cGMP signaling pathway, key mediators

 

signal transduction processes in diverse cell types, important components

CHD7 (=KAL5)+del

CHARGE syndrome

 

hypogonadotropic hypogonadism, idiopathic (IHH)

 

idiopathic scoliosis 3, susceptibility to (IS3)

 

Kallmann syndrome 5 (KAL5)

CHRNA3

Lung cancer susceptibility 2 (LNCR2)

 

Smoking as a quantitative trait locus 3 (SQTL3)

CHST10

Rolle in der HNK1-Biosynthese (neurodevelopment and synaptic plasticity)

CHST11

Sulfatstoffwechsel

CHST12

Sulfatstoffwechsel

CHST3 (=C6ST1)

Larsen syndrome, autosomal recessive

 

Spondyloepiphyseal dysplasia with congenital joint dislocations (= SED Omani type)

CMG2 (offiziell ANTXR2)

infantile systemic hyalinosis (ISH)

 

juvenile hyaline fibromatosis (JHF)

C-MLP (offiz. MLP)

Myelofibrosis with myeloid metaplasia, somatic (MMM)

 

Thrombocythemia 2 (THCYT2)

 

Thrombocytopenia, congenital amegakaryocytic (CAMT)

COL1A1+del

Caffey disease (CAFFD) (infantile cortical hyperostosis)

 

Ehlers-Danlos syndrome type I (EDS1) (Ehlers-Danlos syndrome gravis)

 

Ehlers-Danlos syndrome type VIIA (EDS7A) (EDS, arthrochalasia type)

 

Osteogenesis imperfecta type I (OI1) (OI tarda, OI with blue sclerae)

 

Osteogenesis imperfecta type IIA (OI2A) (OI congenita, perinathal lethal form)

 

Osteogenesis imperfecta type III (OI3) (OI, progressively deforming, with normal sclerae)

 

Osteogenesis imperfecta type IV (OI4) (OI with normal sclerae)

 

Osteoporosis, susceptibility to (OSTEOP)

COL1A2+del

Ehlers-Danlos syndrome, cardiac valvular form (EDSCV)

 

Ehlers-Danlos syndrome, type VIIB (EDS7B) (EDS, arthrochalasia type)

 

Marfan syndrome, atypical

 

Osteogenesis imperfecta type IIA (OI2A) (OI congenita, perinathal lethal form)

 

Osteogenesis imperfecta type III (OI3) (OI, progressively deforming, with normal sclerae)

 

Osteogenesis imperfecta type IV (OI4) (OI with normal sclerae)

 

Osteoporosis, postmenopausal

COL2A1+del

Achondrogenesis type II (ACG2) (ACG, Langer-Saldino type)

 

Avascular necrosis of the femoral head (ANFH)

 

Czech dysplasia (pseudorheumatoid dysplasia, progressive, with hypoplastic toes)

 

Epiphyseal dysplasia, multiple, with myopia and deafness (EDMMD)

 

Hypochondrogenesis

 

Kniest dysplasia (KD)

 

Legg-Calve-Perthes disease (LCPD; LCP)

 

Osteoarthritis with mild chondrodysplasia (OACD)

 

Otospondylomegaepiphyseal dysplasia (OSMED) (Nance-Sweeney chondrodysplasia)

 

Platyspondylic lethal skeletal dysplasia, Luton type (PLSD-L)

 

Platyspondylic skeletal dysplasia, Torrance type (PLSD-T)

 

rhegmatogenous retinal detachment, autosomal dominant (DRRD)

 

SED, Namaqualand type

 

Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-STR)

 

Spondyloepiphyseal dysplasia congenita (SEDC)

 

Spondyloperipheral dysplasia (SPD)

 

Stickler sydrome, type I, nonsyndromic ocular (STL1O)

 

Stickler syndrome, type I (STL1) (Stickler syndrome, vitreous type 1)

 

Vitreoretinopathy with phalangeal epiphyseal dysplasia

 

Wagner syndrome type 2 (WGN2)

COL3A1+del

aortic aneurysm, familial abdominal 1 (AAA1)

 

Ehlers-Danlos syndrome, type III (EDSIII; EDS3) (EDS, hypermobility type)

 

Ehlers-Danlos syndrome, type IV, autosomal dominant (EDS IV; EDS4) (EDS, vascular type)

COL4A1

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC)

 

Brain small vessel disease with Axenfeld-Rieger anomaly

 

Brain small vessel disease with hemorrhage (BSVDH) (infantile hemiparesis)

 

Porencephaly, familial (PCEPH)

COL4A2

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC)

 

Brain small vessel disease with Axenfeld-Rieger anomaly

 

Brain small vessel disease with hemorrhage (BSVDH) (infantile hemiparesis)

COL4A3

Alport syndrome, autosomal dominant (APSAD)

 

Alport syndrome, autosomal recessive (APSAR)

 

Hematuria, benign familial (BFH) (Thin-basement-mambrane nephropathy)

COL4A4

Alport syndrome, autosomal recessive

 

Hematuria, benign familial (BFH) (=Thin-basement-membrane nephropathy)

COL4A5+del

Alport syndrome X-linked (APSX)

 

Leiomatosis, diffuse, with Alport syndrome (DL-ATS)

COL5A1+del+dup

Ehlers-Danlos syndrome, type I (EDS I) (EDS1) (EDS, severe classic type)

 

Ehlers-Danlos syndrome, type II (EDS II) (EDS2) (EDS, mild classic type)

COL5A2

Ehlers-Danlos syndrome, type I (EDS I) (EDS1) (EDS, severe classic type)

COL9A1

epiphyseal dysplasia, multiple, type 6 (EDM6)

 

Stickler Syndrome, autosomal recessive, COL9A1-related (COL9A1ARSTL)

COL9A2

Epiphyseal dysplasia, multiple, 2 (EDM2)

 

Intervertebral disc disease (IDD), susceptibility to

 

Stickler syndrome, type V (STL5)

COL9A3

Epiphyseal dysplasia, multiple, 3 (EDM3)

 

Epiphyseal dysplasia, multiple, with myopathy

 

Hearing loss, non-syndromic

 

Intervertebral disc disease, susceptibility to

 

Pseudoachondroplasia (PSACH)

COL10A1

Metaphyseal chondrodysplasia, Schmid type (MCDS)

COL11A1+del

Fibrochondrogenesis

 

Lumbar disc herniation, susceptibility to

 

Marshall syndrome (MARSHS)

 

Stickler syndrome, type II (STL2)

 

Stickler syndrome, vitreous type 2

COL11A2

deafness, autosomal dominant type 13 (DFNA13)

 

deafness, autosomal recessive type 53 (DFNB53)

 

OSMED, heterozygous (WZS)

 

Otospondylomegaepiphyseal dysplasia (OSMED)

 

Stickler syndrome, type III (STL3)

 

Weissenbacher-Zweymueller syndrome (WZS)

COMP+del

Epiphyseal dysplasia, Fairbank type (EDMF)

 

Epiphyseal dysplasia, multiple 1 (EDM1)

 

Epiphyseal dysplasia, Ribbing type (EDMR)

 

Pseudoachondroplasia (PSACH)

CPT2

CPT deficiency, hepatic, type II (Carnitine palmitoyltransferase II deficiency, infantile)

 

CPT II deficiency, lethal neonatal (Carnitine palmitoyltransferase 2 deficiency, lethal neonatal)

 

CPT II deficiency, myopathic (Carnitine palmitoyltransferase 2 deficiency, late-onset)

 

Encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4)

CPX (offiz. EBP)

Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2) (Conradi-Hunermann-Happle syndrome)

CREB3L2

chondrocyte differentiation, key role in

 

epiphyseal cartilage, key role in formation of

 

Fibromyxoid sarcoma, low grade (LGFMS)

 

transcription of unfolded protein response target genes, regulation of

CREBBP+del

16p13.3 deletion syndrome

 

leukemia, acute myeloid

 

Rubinstein-Taybi syndrome type 1 (RSTS1)

CRELD1

Atrioventricular septal defect, partial, with heterotaxy syndrome

 

Atrioventricular septal defect, susceptibility to, 2 (AVSD2)

CRTAP

Osteogenesis imperfecta, type IIB (OI2B)

 

Osteogenesis imperfecta, type VII (OI7)

CSGALNACT1+del

role in enchondral ossification and aggrecan metabolism; required for normal cartilage development

CTC1

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) (Coats plus syndrome)

CTNNB1

Adenomas, salivary gland pleomorphic (PSA)

 

Colorectal cancer (CRC)

 

Hepatoblastoma

 

Hepatocellular carcinoma (HCC)

 

Medulloblastoma (MDB)

 

Mesothelioma, malignant; susceptibility to (MESOM)

 

Ovarian cancer (OC)

 

Pilomatricoma (PTR)

CTSK

Pycnodysostosis (PKND)

CUL7

3-M syndrome 1 (3M1)

CX26 (offiz. GJB2)

Bart-Pumphrey syndrome (BPS)

 

Deafness, autosomal dominant 3A (DFNA3A)

 

Deafness, autosomal recessive 1A (DFNB1A)

 

Hystrix-like ichthyosis with deafness (HID syndrome)

 

Keratitis-ichthyosis-deafness syndrome (KID syndrome)

 

Keratoderma, palmoplantar, with deafness (PPKDFN)

 

Vohwinkel syndrome (VS)

CXCR4

Myelokathexis, isolated

 

WHIM (Warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome

CYP7B1

Bile acid synthesis defect, congenital, 3 (CBAS3)

 

Spastic paraplegia 5A, autosomal recessive (SPG5A)

Gen

Krankheit

D2HGDH+del

D-2-Hydroxyglutaric aciduria 1 (D2HGA) (D2HGA1)

DBP+del (offiz. HSD17B4)

D-bifunctional protein deficiency (DBPD)

 

Perrault syndrome (PRS)

DCLRE1C(=ARTEMIS)+del

Omenn syndrome (Reticuloendotheliosis, familial, with eosinophilia)

 

severe combined immunodeficiency Athabaskan-type (SCIDA)

 

severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID)

DHCR7+del

Smith-Lemli-Opitz syndrome (SLOS)

DKC1

Dyskeratosis congenita, X-linked

DLD (=LAD)

Dihydrolipoamide dehydrogenase deficiency (DLDD) (Maple syrup urine disease, type III)

DLL3

Spondylocostal dysostosis, autosomal recessive, 1 (SCDO1)

DNASE2

apoptosis, major role during

 

erythropoiesis, major role during

DNMT3B

Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1)

DTDST (offiziell SLC26A2)

Achondrogenesis Ib (ACG1B)

 

Atelosteogenesis II (AO2)

 

De la Chapelle dysplasia (DLCD)

 

Diastrophic dysplasia (DTD)

 

Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB)

 

Epiphyseal dysplasia, multiple, 4 (EDM4)

DYM+dup

Dyggve-Melchior-Clausen disease (DMC)

 

Smith-McCort dysplasia (SMC)

DYNC2H1

Asphyxiating thoracic dystrophy 3 (ATD3)

 

Short rib-polydactyly syndrome, type II, digenic (SRPS2)

 

Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome)

EBP (=CPX)

Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2) (Conradi-Hunermann-Happle syndrome)

ECSIT

Complex I deficiency, mitochondrial

EDN3

Central hypoventilation syndrome, congenital (CCHS) (Ondine curse)

 

Hirschsprung disease, susceptibility to, 4 (HSCR4) (aganglionic megacolon (MGC))

 

Waardenburg syndrome, type 4B (WS4B) (WS4B with Hirschsprung disease)

EFNB1+del+dup

Craniofrontonasal syndrome (CFNS)

ELN+del

Cutis laxa, autosomal dominant, 1 (ADCL1)

 

Supravalvar aortic stenosis (SVAS) (SVAS, Eisenberg type)

ELNdel

Williams-Beuren syndrome (WBS)

EP300+del

Colorectal cancer (CRC)

 

Rubinstein-Taybi syndrome 2 (RSTS2)

ERCC3 (=XPB)

Ichthyosiform erythroderma with hair abnormality and mental and growth retardation

 

Trichothiodystrophy, photosensitive (TTDP)

 

Xeroderma pigmentosum, group B (XBP)

 

Xeroderma pigmentosum/Cockayne syndrome (XPB/CS)

ETFA+del

Glutaric acidemia IIA (ETFA deficiency)

 

Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIA)

ETFB

Glutaric acidemia IIB (ETFB deficiency)

 

Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIB)

ETFDH

Glutaric acidemia IIC (GA2C) (ETFDH deficiency)

 

Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIC)

EVC (=EVC1)+del

Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia)

 

Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome)

EVC2+del

Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia)

 

Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome)

EXT1+del (=TRPS2)

Chondrosarcoma (CHDSA)

 

Exostoses, multiple, type 1 (EXT1) (Osteochondromas, multiple)

 

Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2))

EXT2+del

Chondrosarcoma (CHDSA)

 

Exostoses, multiple, type 2 (EXT 2) (= Osteochondromas, multiple)

 

Potocki-Shaffer syndrome (PSS) (11p11.2 Deletion Syndrome)

EZH2

Weaver syndrome (WES) (Weaver-Smith syndrome (WSS))

FAM110B

tumor progression, may be involved in

FBN1+del

Acromicric dysplasia (ACMICD)

 

Aortic aneurysm, ascending, and dissection

 

Ectopia lentis, familial (EL)

 

Geleophysic dysplasia 2 (GPHYSD2)

 

Marfan syndrome (MFS) (Marfan syndrome, type 1 (MFS1))

 

MASS syndrome (overlap connective tissue disease (OCTD))

 

Stiff skin syndrome (SSKS)

 

Weill-Marchesani syndrome 2 (WMS2)

FBN2

Arthrogryposis, distal, type 9 (DA9) (Beals syndrome)

FBXW8

3-M syndrome, candidate

FGD1+del

Aarskog-Scott syndrome (AAS) (Faciogenital dysplasia (FGDY))

 

Mental retardation, X-linked syndromic 16 (MRXS16)

FGF8

Hypogonadotropic hypogonadism

 

Kallmann syndrome 6 (KAL6)

FGF9

Multiple synostoses syndrome 3 (SYNS3)

FGF10+del

Aplasia of lacrimal and salivary glands (ALSG)

 

LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)

FGF17

embryonic development, important role in the regulation of; embryonic brain, signaling molecule in the induction and patterning of the

FGF23

Hypophosphatemic rickets, autosomal dominant (ADHR) (Vitamin D-resistant rickets, AD)

 

Osteomalacia, tumor-induced

 

Tumoral calcinosis, hyperphosphatemic, familial HFTC) (Morbus Teutschlaender)

FGFR1+del (=KAL2)

Hypogonadotropic hypogonadism

 

Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)

 

Kallmann syndrome 2 (KAL2)

 

Osteoglophonic dysplasia (OGD)

 

Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5))

 

Trigonocephaly, nonsyndromic (TRICEPH) (Craniosynostosis, metopic)

FGFR2+del

Antley-Bixler syndrome, type 2 (ABS2) (ABS without genital anomalies or disordered steroidogenesis)

 

Apert syndrome (APRS) (Acrocephalosyndactyly type 1 (ACS1))

 

Beare-Stevenson cutis gyrata syndrome (BSTVS)

 

Craniofacial-skeletal-dermatologic dysplasia

 

Craniosynostosis, nonspecific

 

Crouzon syndrome (CS) (Craniofacial dysostosis type I (CFD1))

 

Gastric cancer, somatic

 

Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)

 

LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)

 

Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5))

 

Saethre-Chotzen syndrome (SCS) (Acrocephalodyndactyly, type III ( ACS3))

 

Scaphocephaly and Axenfeld-Rieger anomaly

 

Scaphocephaly, maxillary retrusion, and mental retardation

FGFR3

Achondroplasia (ACH)

 

Bladder cancer, somatic (BLC)

 

CATSHL (camptodactyly tall stature and hearing loss) syndrome

 

Cervical cancer, somatic (CERCA)

 

Crouzon syndrome with acanthosis nigricans

 

Hypochondroplasia

 

Keratosis, seborrheic, somatic

 

LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)

 

Muenke syndrome

 

multiple myeloma (MM)

 

Nevus, keratinocytic, nonepidermolytic (KNEN)

 

Spermatocytic seminoma, somatic

 

Thanatophoric dysplasia, type I (TD1)

 

Thanatophoric dysplasia, type II

FKBP10

Osteogenesis imperfecta, type XI (OI11)

FKBP14

Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH)

FLI1

Ewing sarcoma (ES)

 

Hemangiomatosis

 

Leukemia, acute lymphoblastic

 

Paris-Trousseau thrombocytopenia (TCPT)

FLNB

Atelosteogenesis, type I (AOI) (Spondylohumerofemoral hypoplasia)

 

Atelosteogenesis, type III (AOIII) (AO3)

 

Boomerang dysplasia

 

Larsen syndrome (LRS), autosomal dominant

 

Spondylocarpotarsal synostosis syndrome (SCT)

FOXC2+del

Lymphedema, hereditary, type 2 (LMPH2) (Meige disease)

 

Lymphedema-distichiasis syndrome (LYDS)

 

Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus

 

Yellow nail syndrome (YNS) (Lymphedema and yellow nails (LYYN))

FOXG1+del

Rett syndrome, congenital variant (RTTCV)

FOXI1

Enlarged vestibular aqueduct (EVA)

 

Pendred syndrome (PDS)

FOXL2+del+dup

Blepharophimosis, epicanthus inversus, and ptosis, type 1 (BPES1)

 

Blepharophimosis, epicanthus inversus, and ptosis, type 2 (BPES2)

 

Premature ovarian failure 3

Gen

Krankheit

D2HGDH+del

D-2-Hydroxyglutaric aciduria 1 (D2HGA) (D2HGA1)

DBP+del (offiz. HSD17B4)

D-bifunctional protein deficiency (DBPD)

 

Perrault syndrome (PRS)

DCLRE1C(=ARTEMIS)+del

Omenn syndrome (Reticuloendotheliosis, familial, with eosinophilia)

 

severe combined immunodeficiency Athabaskan-type (SCIDA)

 

severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID)

DHCR7+del

Smith-Lemli-Opitz syndrome (SLOS)

DKC1

Dyskeratosis congenita, X-linked

DLD (=LAD)

Dihydrolipoamide dehydrogenase deficiency (DLDD) (Maple syrup urine disease, type III)

DLL3

Spondylocostal dysostosis, autosomal recessive, 1 (SCDO1)

DNASE2

apoptosis, major role during

 

erythropoiesis, major role during

DNMT3B

Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1)

DTDST (offiziell SLC26A2)

Achondrogenesis Ib (ACG1B)

 

Atelosteogenesis II (AO2)

 

De la Chapelle dysplasia (DLCD)

 

Diastrophic dysplasia (DTD)

 

Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB)

 

Epiphyseal dysplasia, multiple, 4 (EDM4)

DYM+dup

Dyggve-Melchior-Clausen disease (DMC)

 

Smith-McCort dysplasia (SMC)

DYNC2H1

Asphyxiating thoracic dystrophy 3 (ATD3)

 

Short rib-polydactyly syndrome, type II, digenic (SRPS2)

 

Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome)

EBP (=CPX)

Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2) (Conradi-Hunermann-Happle syndrome)

ECSIT

Complex I deficiency, mitochondrial

EDN3

Central hypoventilation syndrome, congenital (CCHS) (Ondine curse)

 

Hirschsprung disease, susceptibility to, 4 (HSCR4) (aganglionic megacolon (MGC))

 

Waardenburg syndrome, type 4B (WS4B) (WS4B with Hirschsprung disease)

EFNB1+del+dup

Craniofrontonasal syndrome (CFNS)

ELN+del

Cutis laxa, autosomal dominant, 1 (ADCL1)

 

Supravalvar aortic stenosis (SVAS) (SVAS, Eisenberg type)

ELNdel

Williams-Beuren syndrome (WBS)

EP300+del

Colorectal cancer (CRC)

 

Rubinstein-Taybi syndrome 2 (RSTS2)

ERCC3 (=XPB)

Ichthyosiform erythroderma with hair abnormality and mental and growth retardation

 

Trichothiodystrophy, photosensitive (TTDP)

 

Xeroderma pigmentosum, group B (XBP)

 

Xeroderma pigmentosum/Cockayne syndrome (XPB/CS)

ETFA+del

Glutaric acidemia IIA (ETFA deficiency)

 

Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIA)

ETFB

Glutaric acidemia IIB (ETFB deficiency)

 

Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIB)

ETFDH

Glutaric acidemia IIC (GA2C) (ETFDH deficiency)

 

Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIC)

EVC (=EVC1)+del

Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia)

 

Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome)

EVC2+del

Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia)

 

Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome)

EXT1+del (=TRPS2)

Chondrosarcoma (CHDSA)

 

Exostoses, multiple, type 1 (EXT1) (Osteochondromas, multiple)

 

Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2))

EXT2+del

Chondrosarcoma (CHDSA)

 

Exostoses, multiple, type 2 (EXT 2) (= Osteochondromas, multiple)

 

Potocki-Shaffer syndrome (PSS) (11p11.2 Deletion Syndrome)

EZH2

Weaver syndrome (WES) (Weaver-Smith syndrome (WSS))

FAM110B

tumor progression, may be involved in

FBN1+del

Acromicric dysplasia (ACMICD)

 

Aortic aneurysm, ascending, and dissection

 

Ectopia lentis, familial (EL)

 

Geleophysic dysplasia 2 (GPHYSD2)

 

Marfan syndrome (MFS) (Marfan syndrome, type 1 (MFS1))

 

MASS syndrome (overlap connective tissue disease (OCTD))

 

Stiff skin syndrome (SSKS)

 

Weill-Marchesani syndrome 2 (WMS2)

FBN2

Arthrogryposis, distal, type 9 (DA9) (Beals syndrome)

FBXW8

3-M syndrome, candidate

FGD1+del

Aarskog-Scott syndrome (AAS) (Faciogenital dysplasia (FGDY))

 

Mental retardation, X-linked syndromic 16 (MRXS16)

FGF8

Hypogonadotropic hypogonadism

 

Kallmann syndrome 6 (KAL6)

FGF9

Multiple synostoses syndrome 3 (SYNS3)

FGF10+del

Aplasia of lacrimal and salivary glands (ALSG)

 

LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)

FGF17

embryonic development, important role in the regulation of; embryonic brain, signaling molecule in the induction and patterning of the

FGF23

Hypophosphatemic rickets, autosomal dominant (ADHR) (Vitamin D-resistant rickets, AD)

 

Osteomalacia, tumor-induced

 

Tumoral calcinosis, hyperphosphatemic, familial HFTC) (Morbus Teutschlaender)

FGFR1+del (=KAL2)

Hypogonadotropic hypogonadism

 

Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)

 

Kallmann syndrome 2 (KAL2)

 

Osteoglophonic dysplasia (OGD)

 

Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5))

 

Trigonocephaly, nonsyndromic (TRICEPH) (Craniosynostosis, metopic)

FGFR2+del

Antley-Bixler syndrome, type 2 (ABS2) (ABS without genital anomalies or disordered steroidogenesis)

 

Apert syndrome (APRS) (Acrocephalosyndactyly type 1 (ACS1))

 

Beare-Stevenson cutis gyrata syndrome (BSTVS)

 

Craniofacial-skeletal-dermatologic dysplasia

 

Craniosynostosis, nonspecific

 

Crouzon syndrome (CS) (Craniofacial dysostosis type I (CFD1))

 

Gastric cancer, somatic

 

Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)

 

LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)

 

Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5))

 

Saethre-Chotzen syndrome (SCS) (Acrocephalodyndactyly, type III ( ACS3))

 

Scaphocephaly and Axenfeld-Rieger anomaly

 

Scaphocephaly, maxillary retrusion, and mental retardation

FGFR3

Achondroplasia (ACH)

 

Bladder cancer, somatic (BLC)

 

CATSHL (camptodactyly tall stature and hearing loss) syndrome

 

Cervical cancer, somatic (CERCA)

 

Crouzon syndrome with acanthosis nigricans

 

Hypochondroplasia

 

Keratosis, seborrheic, somatic

 

LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome)

 

Muenke syndrome

 

multiple myeloma (MM)

 

Nevus, keratinocytic, nonepidermolytic (KNEN)

 

Spermatocytic seminoma, somatic

 

Thanatophoric dysplasia, type I (TD1)

 

Thanatophoric dysplasia, type II

FKBP10

Osteogenesis imperfecta, type XI (OI11)

FKBP14

Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH)

FLI1

Ewing sarcoma (ES)

 

Hemangiomatosis

 

Leukemia, acute lymphoblastic

 

Paris-Trousseau thrombocytopenia (TCPT)

FLNB

Atelosteogenesis, type I (AOI) (Spondylohumerofemoral hypoplasia)

 

Atelosteogenesis, type III (AOIII) (AO3)

 

Boomerang dysplasia

 

Larsen syndrome (LRS), autosomal dominant

 

Spondylocarpotarsal synostosis syndrome (SCT)

FOXC2+del

Lymphedema, hereditary, type 2 (LMPH2) (Meige disease)

 

Lymphedema-distichiasis syndrome (LYDS)

 

Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus

 

Yellow nail syndrome (YNS) (Lymphedema and yellow nails (LYYN))

FOXG1+del

Rett syndrome, congenital variant (RTTCV)

FOXI1

Enlarged vestibular aqueduct (EVA)

 

Pendred syndrome (PDS)

FOXL2+del+dup

Blepharophimosis, epicanthus inversus, and ptosis, type 1 (BPES1)

 

Blepharophimosis, epicanthus inversus, and ptosis, type 2 (BPES2)

 

Premature ovarian failure 3

Gen

Krankheit

IDH1

Glioma (GLM)

 

Leukemia, acute myeloid (AML)

 

Maffucci syndrome (Enchondromatosis, multiple, Maffucci type)

 

Metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA)

 

Ollier disease (Enchondromatosis, multiple, Ollier type)

 

Osteoarthritis, familial early-onset (FOA), susceptibility to

IDH2

D-2-hydroxyglutaric aciduria type 2 (D2HGA2)

 

Maffucci syndrome (= Enchondromatosis, multiple, Maffucci type)

 

Metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA)

 

Ollier disease (Enchondromatosis, multiple, Ollier type)

IFITM5

Osteogenesis imperfecta, type 5 (OI5)

IFT20

ciliary assembly, function in

IFT25 (offiz. HSPB11)

apoptotic cell death, role in prevention of

IFT27

protein is ras-related, but the function is unknown

IFT43

Cranioectodermal dysplasia 3 (CED3)

IFT80

Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2)

IFT122

Cranioectodermal dysplasia type 1 (CED1)

IGFALS

Acid-labile subunit, deficiency of (ALSD)

IHH

Acrocapitofemoral dysplasia (ACFD)

 

Brachydactyly, type A1 (BDA1)

IKBKG (=NEMO)+del

Atypical mycobacteriosis, familial (AMCBX1)

 

Ectodermal dysplasia, anhidrotic, with immune deficiency (EDA-ID)

 

Ectodermal dysplasia, hypohidrotic, with immune deficiency (HED-ID)

 

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency

 

Immunodeficiency, isolated

 

Incontinentia pigmenti, type II, formerly

 

Invasive pneumococcal disease, recurrent isolated, 2 (IPD2)

IMPAD1

chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)

INI1 (offiz. SMARCB1)+del

Rhabdoid predisposition syndrome 1 (RPS1)

 

Rhabdoid tumor (RDT) (Teratoid tumor, atypical)

 

Schwannomatosis (Neurofibromatosis type 3 (NF3))

IRF6+del

Orofacial cleft 6, susceptibility to (OFC6)

 

Popliteal pterygium syndrome 1 (PPS)

 

van der Woude syndrome 1 (VWS1) (Cleft lip and/or palate with mucous cysts of lower lip)

IVD

Isovaleric acidemia (IVA)

JAG1+del+dup

Alagille syndrome, type 1 (ALGS1)

 

Deafness, congenital heart defects, and posterior embryotoxon

 

Tetralogy of Fallot (TOF)

JAK2

Budd-Chiari syndrome, susceptibility to (BDCHS)

 

Erythrocytosis, somatic

 

Leukemia, acute myelogenous (AML) (= Leukemia, acute myeloid)

 

Myelofibrosis, somatic

 

Polycythemia vera (PV) (= Polycythemia rubra vera (PRV))

 

Thrombocythemia 3 (THCYT3) (= Thrombocytosis)

KAL1+del

Kallmann syndrome 1 (KAL1) (Hypogonadotropic hypogonadism and anosmia (HHA))

KAL2+del (offiz. FGFR1)

Hypogonadotropic hypogonadism

 

Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies)

 

Kallmann syndrome 2 (KAL2)

 

Osteoglophonic dysplasia (OGD)

 

Pfeiffer syndrome (PS) (Acrocephalodyndactyly, type V ( ACS5))

 

Trigonocephaly, nonsyndromic (TRICEPH) (Craniosynostosis, metopic)

KAL3 (offiz. PROKR2)

Kallmann syndrome 3

KAL4 (offiz. PROK2)

Hypogonadism, hypogonadotropic

 

Kallmann syndrome 4

KAL5 (off. CHD7)+del

CHARGE syndrome

 

hypogonadotropic hypogonadism, idiopathic (IHH)

 

idiopathic scoliosis 3, susceptibility to (IS3)

 

Kallmann syndrome 5 (KAL5)

KCNJ11

Diabetes mellitus, permanent neonatal (PNDM) (Diabetes mellitus, permanent, of infancy (PDMI)

 

Diabetes mellitus, permanent neonatal, with neurologic features

 

Diabetes mellitus, transient neonatal, 3 (TNDM3)

 

Diabetes mellitus, type 2, susceptibility to (= noninsulin-dependent diabetes mellitus (NIDDM), susceptibility to)

 

Hyperinsulinemic hypoglycemia, familial, 2 (HHF2)

KCTD1

Scalp-ear-nipple syndrome (SENS) (Finlay-Marks syndrome)

KIF7

Acrocallosal syndrome

 

Hydrolethalus syndrome 2

 

Joubert syndrome 12

KIF22

Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2)

KISS1R

Hypogonadotropic hypogonadism

 

Precocious puberty, central

KIT+del

Gastrointestinal stromal tumor, familial (GIST)

 

Leukemia, acute myeloid (AML)

 

Mast cell disease (= Mastocytosis)

 

Testicular germ cell tumors (TGCT) (Male germ cell tumor (MGCT))

 

Piebald trait (PBT) (Piebaldism)

 

Urticaria pigmentosa

KRAS

Bladder cancer, somatic

 

Breast cancer, somatic

 

Cardiofaciocutaneous syndrome 2 (CFC2)

 

Gastric cancer, somatic

 

Leukemia, acute myeloid (AML)

 

Lung cancer, somatic

 

Noonan syndrome 3 (NS3)

 

Pancreatic cancer, somatic

 

Schimmelpfennig-Feuerstein-Mims syndrome (SFM), somatic mosaic

KRT14

Dermatopathia pigmentosa reticularis (DPR)

 

Epidermolysis bullosa simplex Dowling-Meara type (EBS-DM)

 

Epidermolysis bullosa simplex Koebner type (EBS-K)

 

Epidermolysis bullosa simplex Weber-Cockayne type (EBS-WC)

 

Epidermolysis bullosa simplex, autosomal recessive (AREBS)

 

Naegeli-Franceschetti-Jadassohn syndrome (NFJS) (Naegeli syndrome)

Gen

Krankheit

L2HGDH+del

L-2-Hydroxyglutaric aciduria

LAD (offiz. DLD)

Dihydrolipoamide dehydrogenase deficiency (DLDD) (E3 deficiency) (Maple syrup urine disease, type III)

LAMP2+del

Danon disease (DAND) (= Glycogen storage disease type 2B (GSD2B), formerly)

LAMR1 (offiz. RPSA)

Asplenia, isolated congenital

LEPRE1+del

Osteogenesis imperfecta, type 8 (OI8)

LFNG

Spondylocostal dysostosis, type 3 (SCDO3)

LHX3+del

Pituitary hormone deficiency, combined, 3 (CPHD3)

LHX4+del

Leukemia, acute lymphoblastic (ALL)

 

Pituitary hormone deficiency, combined, 4 (CPHD4)

LIFR

Adenomas, salivary gland pleomorphic (PSA; SGPA)

 

Stueve-Wiedemann syndrome (SWS) (Schwartz-Jampel syndrome, type 2 (SJS2))

LMNA+del

Cardiomyopathy, dilated, 1A (CMD1A)

 

Charcot-Marie-Tooth disease, axonal, type 2B1 (CMT2B1)

 

Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)

 

Emery-Dreifuss muscular dystrophy, atypical, autosomal recessive

 

Heart-hand syndrome, Slovenian type

 

Hutchinson-Gilford progeria syndrome (HGPS) (= Progeria)

 

Lipodystrophy, familial partial, type 2 (FPLD2) (Dunnigan type)

 

Malouf syndrome (Cardiomyopathy, dilated, with hypergonadotropic hypogonadism)

 

Mandibuloacral dysplasia with type A lipodystrophy (MADA) (Craniomandibular dermatodysostosis)

 

Mandibuloacral dysplasia with type A lipodystrophy, atypical

 

Muscular dystrophy, congenital, LMNA-related (MDCL)

 

Muscular dystrophy, limb-girdle, type 1B (LGMD1B)

 

Progeria syndrome, childhood onset

 

Restrictive dermopathy, lethal (Tight skin contracture syndrome, lethal)

LMNB2

Lipodystrophy, partial, acquired, susceptibility to (APLD) (Barraquer-Simons syndrome)

LMX1B+del

Nail-patella syndrome (NPS) (Onychoosteodysplasia)

 

Nail-patella syndrome with primary open angle glaucoma (POAG)

LNP (offiz. NUSAP1)

spindle microtubule organization, role in

LPIN2

Majeed syndrome (MAJEEDS) (chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and neutrophilic dermatosis (Sweet syndrome))

LPL+del+dup

Hyperlipidemia, familial combined (FCHL)

 

Hyperlipoproteinemia, type I (Lipoprotein lipase (LPL) deficiency)

MAFB

Multicentric carpotarsal osteolysis syndrome (MCTO)

MAP2K1 (=MEK1)

Cardiofaciocutaneous syndrome 3 (CFC3)

MAP2K2 (=MEK2)

Cardiofaciocutaneous syndrome 4 (CFC4)

MAT1A

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency

 

Methionine adenosyltransferase (MAT) deficiency, autosomal recessive

MATN3

Epiphyseal dysplasia, multiple, 5 (EDM5)

 

Osteoarthritis, susceptibility to, 2 (OS2)

 

Spondyloepimetaphyseal dysplasia (SEMD)

MBOAT1+del

Brachydactyly-syndactyly syndrome, novel

MC4R

Obesity, autosomal dominant (OBESITY)

MCAD (offiz. ACADM)+del

Acyl-CoA dehydrogenase medium chain (ACADM) deficiency = medium chain Acyl-CoA dehydrogenase deficiency (MCAD)

MECP2+del+dup

Angelman syndrome-like

 

Autism susceptibility, X-linked 3 (AUTSX3)

 

Encephalopathy, neonatal severe

 

Mental retardation, X-linked syndromic, Lubs type (MRXSL) (MECP2 duplication syndrome)

 

Mental retardation, X-linked, syndromic 13 (MRXS13)

 

Rett syndrome (RTT; RTS)

 

Rett syndrome, preserved speech variant (RTT-PSV) (Rett syndome, atypical)

MED12

Lujan-Fryns syndrome (Mental retardation, X-linked, with marfanoid habitus)

 

Ohdo syndrome, X-linked (OHDOX) (Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type)

 

Opitz-Kaveggia syndrome (OKS) (FG syndrome 1 (FGS1))

MEF2C+del

Bone development and chondrocyte hypertrophy, control of

 

Chondrocyte hypertrophy and bone development, control of

 

Mental retardation, autosomal dominant 20 (MRD20)

 

Chromosome 5q14.3 deletion syndrome

MEK1 (offiz. MAP2K1)

Cardiofaciocutaneous syndrome 3 (CFC3)

MEK2 (offiz. MAP2K2)

Cardiofaciocutaneous syndrome 4 (CFC4)

MESP2

Spondylocostal dysostosis type 2 (SCDO2)

MID1+del+dup

Opitz GBBB syndrome, X-linked (Opitz syndrome (OS))

MLH1+del

Cafe-au-lait spots with glioma or leukemia

 

Colorectal cancer, hereditary nonpolyposis, type 2 (HNPCC2)

 

Endometrial cancer (ENDMC), susceptibility to

 

Lobular carcinoma in situ (LCIS)

 

Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome) (Brain tumor-polyposis syndrome 1)

 

Muir-Torre syndrome (MRTES)

MLH3

Colon cancer, hereditary nonpolyposis, type 7 (HNPCC7)

 

Colorectal cancer, somatic (CRC)

 

Endometrial cancer

MLP (=C-MLP)

Myelofibrosis with myeloid metaplasia, somatic (MMM)

 

Thrombocythemia 2 (THCYT2)

 

Thrombocytopenia, congenital amegakaryocytic (CAMT)

MMACHC

Methylmalonic aciduria and homocystinuria, cblC type

MMP2

Multicentric osteolysis, nodulosis, and arthropathy (MONA) (Nodulosis-arthropathy-osteolysis syndrome)

MMP9

Lumbar disc herniation (LDH), susceptibility to

 

Metaphyseal anadysplasia type 2 (MANDP2)

MMP13

Metaphyseal anadysplasia type 1 (MANDP1)

 

Spondyloepimetaphyseal dysplasia, Missouri type (SEMD-MO)

MMP14

Torg-Winchester syndrome (Nodulosis-arthropathy-osteolysis (NAO) syndrome)

 

Winchester syndrome (WNCHRS)

MOPD2 (offiz. PCNT)+del

Microcephalic osteodysplastic primordial dwarfism, type II (MOPD2) (Osteodysplastic primordial dwarfism, type II)

 

Seckel syndrome

MSH2+del

Cafe-au-lait spots, multiple, with leukemia (DD zu MMRCS)

 

Colorectal cancer, hereditary nonpolyposis, type 1 (HNPCC1) (Lynch syndome 1)

 

Colorectal cancer, hereditary nonpolyposis, type 8 (HNPCC8)

 

Endometrial cancer (ENDMC), susceptibility to

 

Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome (Brain tumor-polyposis syndrome 1)

 

Muir-Torre syndrome (MRTES)

 

Neurofibromatosis, type I, with leukemia (DD zu MMRCS)

MSH6+del

Colorectal cancer, hereditary nonpolyposis, type 5 (HNPCC5)

 

Endometrial cancer, familial (ENDMC)

 

Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome (Brain tumor-polyposis syndrome 1)

 

Ovarian cancer, endometrioid type

MSX2+del

Craniosynostosis, type 2 (CRS2) (Craniosynostosis Boston-type (CSB))

 

Parietal foramina 1 (PFM1) (Cranium bifidum occultum)

 

Parietal foramina with cleidocranial dysplasia (PFMCCD) (Cleidocranial dysplasia with parietal foramina)

MYH3

Arthrogryposis, distal, type 2A (DA2A) (Freeman-Sheldon syndrome (FSS))

 

Arthrogryposis, distal, type 2B (DA2B) (Sheldon-Hall syndrome (SHS)) )Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B))

MYH11+dup

Aortic aneurysm, familial thoracic 4 (AAT4)

MYLK

Aortic aneurysm, familial thoracic 7 (AAT7)

MYO6

Deafness, autosomal dominant 22 (DFNA22)

 

Deafness, autosomal dominant 22 (DFNA22), with hypertrophic cardiomyopathy

 

Deafness, autosomal recessive 37 (DFNB37)

Gen

Krankheit

NALP3 (offiz. NLRP3)

CINCA (chronic infantile neurologic cutaneous and articular) syndrome

 

Cold-induced autoinflammatory syndrome, familial (FCAS) (Cold urticaria, familial (FCU))

 

Muckle-Wells syndrome (MWS) (Urticaria-deafness-amyloidosis (UDA) syndrome)

NALP12 (offiz. NLRP12)

Cold autoinflammatory syndrome type 2, familial (FCAS2)

NELF

Hypogonadotropic hypogonadism

 

Kallmann syndrome

NEMO (offiz. IKBKG)+del

Atypical mycobacteriosis, familial (AMCBX1)

 

Ectodermal dysplasia, anhidrotic, with immune deficiency (EDA-ID)

 

Ectodermal dysplasia, hypohidrotic, with immune deficiency (HED-ID)

 

Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency

 

Immunodeficiency, isolated

 

Incontinentia pigmenti, type II, formerly (IP2, formerly)

 

Invasive pneumococcal disease, recurrent isolated, 2 (IPD2)

NF1+del

Leukemia, juvenile myelomonocytic (JMML)

 

Melanoma, desmoplastic neurotrophic (DNM)

 

Neurofibromatosis, familial spinal (FSNF)

 

Neurofibromatosis, type 1 ( Von recklinghausen disease)

 

Neurofibromatosis-Noonan syndrome (NFNS)

 

Watson syndrome (= Pulmonic stenosis with cafe-au-lait spots)

NFIX

Marshall-Smith syndrome (MSS)

 

Sotos syndrome 2

NHP2 (=NOLA2)

Dyskeratosis congenita, autosomal recessive 2 (DKCB2)

NIPBL+del

Cornelia de Lange syndrome type 1 (CDLS1)

NKX2-5

Atrial septal defect 7, with or without AV conduction defects (ASD7)

 

Conotruncal heart malformations, variable (CTHM)

 

Hypoplastic left heart syndrome 2 (HLHS2)

 

Hypothyroidism, congenital nongoitrous, 5 (CHNG5)

 

Tetrology of Fallot (TOF)

 

Truncus arteriosus communis (Persistent truncus arteriosus (PTA))

 

Ventricular septal defect 3 (VSD3)

NLRP3 (=NALP3)

CINCA (chronic infantile neurologic cutaneous and articular) syndrome (CINCA)

 

Cold-induced autoinflammatory syndrome, familial (FCAS) (Cold urticaria, familial (FCU))

 

Muckle-Wells syndrome (MWS) (Urticaria-deafness-amyloidosis (UDA) syndrome)

NLRP12 (=NALP12)

Cold autoinflammatory syndrome type 2, familial (FCAS2)

NOG

Brachydactyly, type B2 (BDB2)

 

Multiple synostosis syndrome 1 (SYNS1) (Symphalangism-brachydactyly syndrome)

 

Stapes ankylosis with broad thumb and toes (SABTS) (Teunissen-Cremers syndrome)

 

Symphalangism, proximal (SYM1) (Cushing symphalangism)

 

Synostosis of talus and calcaneus with short stature

 

Tarsal-carpal coalition syndrome (TCC)

NOLA2 (offiz. NHP2)

Dyskeratosis congenita, autosomal recessive 2 (DKCB2)

NOLA3 (offiz. NOP10)

Dyskeratosis congenita, autosomal recessive 1 (DKCB1)

NOP10 (=NOLA3)

Dyskeratosis congenita, autosomal recessive 1 (DKCB1)

NOTCH1+del

Aortic valve disease 1 (AOVD1)

 

Leukemia, T-cell acute lymphoblastic

NPR2

Acromesomelic dysplasia, Maroteaux type (AMDM)

 

St. Helena dysplasia

NPR3

Hypertension, salt-resistant (?)

NR5A1

46,XY sex reversal 3 (SRXY3)

 

Adrenocortical insufficiency

 

Hypogonadotropic hypogonadism with or without anosmia (HH)

 

Premature ovarian failure 7 (POF7)

 

Spermatogenic failure 8 (SPGF8)

NRXN1+del

Pitt-Hopkins-like syndrome 2 (PTHSL2)

 

Chromosome 2p16.3 deletion syndrome

 

Schizophrenia, susceptibility to, 17

NSD1 (=SOTOS)+del

Beckwith-Wiedemann syndrome (BWS)

 

Leukemia, acute myeloid (AML)

 

Sotos syndrome (SOTOSS) (Cerebral gigantism)

NUSAP1 (=LNP)

spindle microtubule organization, role in

OBSL1

3M syndrome 2 (3M2)

OPG (offiz. TNFRSF11B)

Paget disease, juvenile (JPD) (Hyperphosphatasia, hereditary)

OTX2+del

Microphthalmia, syndromic 5 (MCOPS5)

 

Pituitary hormone deficiency, combined, 6 (CPHD6)

 

Retinal dystrophy, early-onset, and pituitary dysfunction

Gen

Krankheit

p63 (offiz. TP63)

ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome

 

Cervical cancer

 

Colon cancer

 

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)

 

Hay-Wells syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome)

 

Head cancer

 

Limb-mammary syndrome (LMS)

 

Lung cancer

 

Neck cancer

 

Orofacial cleft 8 (OFC8)

 

Ovarian cancer

 

Rapp-Hodgkin syndrome (RHS) (= Ectodermal dysplasia Rapp-Hodgkin type (EDRH))

 

Split-hand/foot malformation 4 (SHFM4)

PACSIN3

vesicle formation and transport, role in

PAH+del

Hyperphenylalaninemia, mild (HPA, mild)

 

Hyperphenylalaninemia, non-PKU mild (HPA, non-PKU mild)

 

Phenylketonuria (PKU) (PAH deficiency)

PAPSS2

Brachyolmia, autosomal recessive

 

Spondylodysplasia and premature pubarche

 

Spondyloepimetaphyseal dysplasia, Pakistani type (SEMD, PA)

PAX2+del

Optic nerve coloboma with renal disease (Renal-coloboma syndrome)

 

Renal hypoplasia, isolated

PAX3+del

Craniofacial-deafness-hand syndrome (CDHS)

 

Rhabdomyosarcoma 2 (RMS2) (Rhabdomyosarcoma, alveolar (RMSA))

 

Waardenburg syndrome, type 1 (WS1)

 

Waardenburg syndrome, type 3 (WS3)

PAX6+del

Aniridia (AN) (Aniridia II (AN2), formerly)

 

Cataract with late-onset corneal dystrophy

 

Coloboma of optic nerve (COLON)

 

Coloboma, ocular (COLO)

 

Ectopia pupillae

 

Foveal hypoplasia and presenile cataract syndrome (O'Donnell-Papas syndrome)

 

Foveal hypoplasia with anterior segment anomalies

 

Foveal hypoplasia, isolated

 

Gillespie syndrome (GS) (Aniridia, cerebellar ataxia, and mental deficiency (ACAMD))

 

Keratitis, hereditary (KERH)

 

Morning glory disc anomaly

 

Optic nerve aplasia, bilateral (BONA)

 

Optic nerve head pits, bilateral, congenital

 

Optic nerve hypoplasia, bilateral (BONH)

 

Peters anomaly (PAN)

 

WAGR (Wilms tumor, aniridia, genitourinary anomalies , and mental retardation) syndrome (chromosome 11p13 deletion syndrome)

 

WAGRO (Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity) syndrome (chromosome 11p13-p12 deletion syndrome)

PC

Pyruvate carboxylase (PC) deficiency

PCNT (=MOPD2)+del

Microcephalic osteodysplastic primordial dwarfism, type II (MOPD2)

 

Seckel syndrome

PDE4D

Acrodysostosis type 2, with or without hormone resistance (ACRDYS2)

PEX7+del

Refsum disease, adult (RDA) (Motor and sensory neuropathy, hereditary, 4 (HMSN4))

 

Rhizomelic chondrodysplasia punctata, type 1 (RCDP1) (Chondrodysplasia punctata, rhizomelic form)

PGN (offiz. SPG7)+del

Spastic paraplegia 7, autosomal recessive (SPG7)

PHEX+del+dup

Hypophosphatemic rickets, X-linked dominant (XLHR) (Vitamin D-resistant rickets, X-linked)

PIN1

Hypogonadotropic Hypogonadism without anosmia

PITX2+del

Axenfeld-Rieger syndrome, type 1 (RIEG1) (Rieger syndrome type 1)

 

Iridogoniodysgenesis, type 2 (IRID2)

 

Peters anomaly (PAN)

 

Ring dermoid of cornea (RDC)

PLCG2 (nur del)

Familial cold autoinflammatory syndrome 3 (FCAS3)

PLOD1+del+dup

Ehlers-Danlos syndrome, type VI (EDS6) (EDS, kyphoscoliotic type)

PLOD2

Bruck syndrome 2 (BRKS2) (Osteogenesis imperfecta with congenital joint contractures)

PMS2+del

Colorectal cancer, hereditary nonpolyposis, type 4 (HNPCC4) (Lynch syndrome 4)

 

Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome) (Brain tumor-polyposis syndrome 1)

POMC

Obesity, early-onset, susceptibility to

 

Proopiomelanocortin deficiency (Obesity, adrenal insufficiency, and red hair)

POP1

Anauxetic dysplasia (Spondylometaepiphyseal dysplasia, Menger type)

POR+del

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1)

 

Cytochrome P450 oxidoreductase deficiency (POR deficiency)

 

Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)

PORCN+del

Focal dermal hypoplasia (FODH) (Goltz syndrome; Goltz-Gorlin syndrome)

POU1F1+del

Pituitary hormone deficiency, combined, 1 (CPHD1)

PPIB

Osteogenesis imperfecta, type IX (OI9)

PRKAR1A+del

Acrodysostosis 1, with or without hormone resistance (ACRDYS1)

 

Adrenocortical tumor, somatic

 

Carney complex, type 1 (CNC1)

 

Myxoma, intracardiac (INTMYX)

 

Pigmented nodular adrenocortical disease, primary, 1 (PPNAD1) (Cushing syndrome, adrenal, due to PPNAD1)

 

Thyroid carcinoma, papillary, somatic (PTC)

PRKG1 (=CGKI)

nitric oxide/cGMP signaling pathway, key mediators

 

signal transduction processes in diverse cell types, important components

PROK2 (=KAL4)

Hypogonadism, hypogonadotropic

 

Kallmann syndrome 4

PROKR2 (=KAL3)

Kallmann syndrome 3

PROP1+del

Pituitary hormone deficiency, combined, 2 (CPHD2) (Panhypopituitarism)

PRSS1

Pancreatitis, hereditary (PCTT)

 

Trypsinogen deficiency

PTCH1+del

Basal cell carcinoma, somatic (BCC)

 

Basal cell nevus syndrome (BCNS) (Gorlin syndrome; Gorlin-Goltz syndrome)

 

Holoprosencephaly-7 (HPE7)

 

Medulloblastoma, somatic (MDB)

PTCH2

Basal cell carcinoma, somatic (BCC)

 

Macrostomia, isolated (Lateral cleft, isolated)

 

Medulloblastoma, somatic (MDB)

PTEN+del

Bannayan-Riley-Ruvalcaba syndrome (BRRS)

 

Chromosome 10q23 deletion syndrome

 

Cowden disease (CD) (Cowden syndrome (CS)) (Multiple hamartoma syndrome (MHAM))

 

Endometrial carcinoma, somatic (ENDMC)

 

Glioma susceptibility 2 (GLM2)

 

Juvenile polyposis syndrome, infantile

 

Lhermitte-Duclos syndrome (LDD) (Cerebelloparenchymal disorder VI (CPD6))

 

Macrocephaly/autism syndrome (MCEPHAS)

 

Melanoma, malignant, somatic

 

Meningioma

 

Meningioma

 

Oligodendroglioma

 

Prostate cancer, somatic (PC)

 

Proteus syndrome

 

PTEN hamartoma tumor syndrome (PHTS) (includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome)

 

Squamous cell carcinoma, head and neck, somatic (HNSCC)

 

Thyroid carcinoma, follicular, somatic (FTC)

 

VATERL (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects) with macrocephaly and ventriculomegaly association

PTH1R (= PTHR)

Chondrodysplasia, Blomstrand type (BOCD)

 

Eiken syndrome (Bone modeling defect of hands and feet)

 

Enchondromatosis, multiple, Ollier type (ENCHOM) (Osteochondromatosis)

 

Failure of tooth eruption, primary (PFE)

 

Metaphyseal chondrodysplasia, Murk Jansen type

PTPN1

Insulin resistance, susceptibility to

PTPN11+del+dup

Leukemia, juvenile myelomonocytic (JMML)

 

Pterygium colli syndrome

 

LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome 1

 

Metachondromatosis (METCDS)

 

Noonan syndrome 1 (NS1)

PTRF

Lipodystrophy, congenital generalized, type 4 (CGL4) (Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy)

PYCR1+del

Cutis laxa autosomal recessive type 2B (ARCL2B) (Cutis laxa with progeroid features)

 

Cutis laxa autosomal recessive type IIIB (ARCL3B) (De Barsy Syndrome B)

Gen

Krankheit

RAB23

Carpenter syndrome (CARPS) (Acrocephalopolysyndactyly type 2 (ACPS2))

RAF1+del+dup

LEOPARD syndrome 2

 

Noonan syndrome 5 (NS5)

RAG1+del

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity (T-CMVA)

 

Combined cellular and humoral immune defects with granulomas (CCHIDG)

 

Omenn syndrome (OS) (Severe combined immunodeficiency with hypereosinophilia)

 

Severe combined immunodeficiency, B cell-negative (B- SCID)

RAG2+del

Combined cellular and humoral immune defects with granulomas (CCHIDG)

 

Omenn syndrome (OS) (Severe combined immunodeficiency with hypereosinophilia)

 

Severe combined immunodeficiency, B cell-negative (= B- SCID)

RIT1

Noonan syndrome 8 (NS8)

RMRP

Anauxetic dysplasia (Spondylometaepiphyseal dysplasia, Menger type)

 

Cartilage-hair hypoplasia (CHH) (Metaphyseal chondrodysplasia, McKusick type)

 

Metaphyseal dysplasia without hypotrichosis (Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency)

RNU4ATAC

Microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) (Taybi-Linder syndrome (TALS))

RPL5

Aase syndrome

 

Aase-Smith syndrome II

 

Diamond-Blackfan anemia 6

RPL11

Diamond-Blackfan anemia 7

RPL15

Diamond-Blackfan anemia 12

RPL26

Diamond-Blackfan anemia 11

RPL35A

Diamond-Blackfan anemia 5

RPS6KA3 (=RSK2) +del+dup

Coffin-Lowry syndrome (CLS)

 

Mental retardation, X-linked 19 (MRX19)

RPS7

Diamond-Blackfan anemia 8

RPS10

Diamond-Blackfan anemia 9

RPS15

Diamond-Blackfan anemia, candidate

RPS17

Diamond-Blackfan anemia 4

RPS19

Aase syndrome

 

Aase-Smith syndrome II

 

Anemia, congenital erythroid hypoplastic

 

Anemia, congenital hypoplastic, of Blackfan and Diamond

 

Aregenerative anemia, chronic congenital

 

Blackfan-Diamond Syndrome; BDS

 

Diamond-Blackfan anemia 1 (DBA1) (DBA)

 

Erythrogenesis imperfecta

 

Red cell aplasia, pure, hereditary

RPS24

Diamond-blackfan anemia 3

RPS26

Diamond-Blackfan anemia 10

RPSA (= LAMR1)

Asplenia, isolated congenital

RSK2 (offiz. RPS6KA3) +del+dup

Coffin-Lowry syndrome (CLS)

 

Mental retardation, X-linked 19 (MRX19)

RTEL1

Dyskeratosis congenita, autosomal dominant 4 (DKCA4)

RTEL1

Dyskeratosis congenita, autosomal recessive 5 (DKCB5)

RUNX1

Leukemia, acute myeloid

RUNX1

Platelet disorder, familial, with associated myeloid malignancy (FPDMM)

RUNX2+del

Cleidocranial dysplasia (CCD) (= Cleidocranial dysostosis (CLCD))

 

Dental anomalies, isolated

SALL1+del

Townes-Brocks branchiootorenal-like syndrome

 

Townes-Brocks syndrome (TBS) (Renal-ear-anal-radial syndrome)

SBDS+del

Shwachman-Bodian-Diamond syndrome (SBDS) (Pancreatic insufficiency and bone marrow dysfunction)

SCYL1BP1 (offiz. GORAB)

Geroderma osteodysplasticum (GO) (Walt Disney dwarfism)

SDCBP

Role in linking syndecan-mediated signaling to the cytoskeleton, cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors; perhaps a role in melanoma differentiation and neurofibromatosis II

SECISBP2+del

Thyroid hormone metabolism, abnormal

SEDLIN (offiz. TRAPPC2)+del

Spondyloepiphyseal dysplasia tarda, X-linked (SEDT)

SEMA3A+del

Hypogonadotropic hypogonadism 16 with or without anosmia (HH16)

SERPINF1

Osteogenesis imperfecta, type VI (OI6)

SERPING1 (=C1NH)+del

Angioedema, hereditary, type I (HAE1) (C1 esterase inhibitor, deficiency of)

 

Angioedema, hereditary, type II (HAE2)

 

Complement component 4 (C4), partial deficiency of

SERPINH1

Osteogenesis imperfecta, type X (OI10)

 

Preterm premature rupture of the membranes, susceptibility to (PPROM)

SETBP1

Leukemia, acute T-cell lymphoblastic

 

Schinzel-Giedion midface retraction syndrome (SGS)

SHOX+del

Langer mesomelic dysplasia (LMD) (Dyschondosteosis, homozygous)

 

Leri-Weill dyschondrosteosis (LWD) (Dyschondrosteosis (DCO))

 

Short stature, idiopathic, X-linked (ISS)

SIX6

Microphthalmia, isolated, with cataract 2 (MCOPCT2)

SKI

Shprintzen-Goldberg craniosynostosis syndrome (SGS) (Craniosynostosis with arachnodyctyly and abdominal hernias)

SLC5A2+del

Renal glucosuria (GLYS1)

SLC6A8+del

Cerebral creatine deficiency syndrome 1 (CCDS1)

SLC16A2 (=MCT8)+del

Allan-Herndon-Dudley syndrome (AHDS) (Monocarboxylate transporter 8 (MCT8) deficiency) (T3 resistance) (Mental retardation, X-linked, with hypotonia)

SLC26A2 (=DTDST)

Achondrogenesis Ib (ACG1B)

 

Atelosteogenesis II (AO2)

 

De la Chapelle dysplasia (DLCD)

 

Diastrophic dysplasia (DTD)

 

Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB)

 

Epiphyseal dysplasia, multiple, 4 (EDM4)

SLC34A1

Fanconi renotubular syndrome 2 (FRTS2)

 

Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)

SLC34A3+del

Hypophosphatemic rickets with hypercalciuria (HHRH)

SLC46A1

Folate malabsorption, hereditary (HFM)

SMAD3

Loeys-Dietz syndrome, type 3 (LDS3) (Aneurysms-osteoarthritis syndrome)

SMAD4

Colorectal cancer (CRC)

 

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)

 

Myhre syndrome (MYHRS) (Growth-mental deficiency syndrome of Myhre)

 

Pancreatic cancer (PNCA)

 

Polyposis, juvenile intestinal (PJI)

SMARCA4

Rhabdoid tumor predisposition syndrome 2 (RTPS2)

SMARCB1 (=INI1)+del

Rhabdoid predisposition syndrome 1 (RPS1)

 

Rhabdoid tumor (RDT) (Teratoid tumor, atypical)

 

Schwannomatosis (Neurofibromatosis type 3 (NF3))

SMC1A (=SMC1L1)+del+dup

Cornelia de Lange syndrome type 2 (CDLS2)

SMC3

Cornelia de Lange syndrome type 3 (CDLS3)

SNAI2+del

Piebald trait (PBT) (= Piebaldism)

 

Waardenburg syndrome, type 2D (WS2D)

SOS1

Fibromatosis, gingival, 1 (GINGF1)

 

Noonan syndrome 4 (NS4)

SOST

Craniodiaphyseal dysplasia, autosomal dominant (CDD)

 

Sclerosteosis 1 (SOST1) (Hyperostosis, cortical, with syndactyly)

 

Van Buchem disease (VBCH) (Hyperostosis corticalis generalis)

SOTOS (offiz. NSD1)+del

Beckwith-Wiedemann syndrome (BWS)

 

Leukemia, acute myeloid (AML)

 

Sotos syndrome (SOTOSS)

 

Weaver syndrome (WES)

SOX2+del

Microphthalmia, syndromic 3 (MCOPS3)

 

Optic nerve hypoplasia and abnormalities of the central nervous system

SP7

Osteogenesis imperfecta, type XII (OI12)

SPAST

Spastic paraplegia 4, autosomal dominant

SPG7 (=PGN)+del

Spastic paraplegia 7, autosomal recessive (SPG7)

SPINK5

Atopy

 

Netherton syndrome (NETH) (= NS = Netherton disease)

SRCAP

Floating-Harbor syndrome (FLHS)

SRP72

Bone marrow failure, familial (BMFF)

SRY

46,XX sex reversal 1 (SRXX1) (46,XX Gonadal dysgenesis, complete, SRY-positive)

 

46,XY sex reversal 1 (SRXY1) (46,XY Gonadal dysgenesis, complete, SRY-related)

 

46,XY True hermaphroditism, SRY-related

 

46;XX True hermaphroditism, SRY-positive (Ovotesticular disorder of sex development)

 

Swyer syndrome (46, XY Gonadal dysgenesis, complete)

STK11

Lung cancer, non-small cell (NSCLC)

 

Melanoma, malignant sporadic

 

Pancreatic cancer, sporadic

 

Peutz-Jeghers syndrome (PJS) (Polyposis, hamartomatous intestinal)

 

Testicular tumor, sporadic

SUFU+del

Medulloblastoma, desmoplastic (MDB, desmoplastic)

Gen

Krankheit

TAC3

Hypogonadotropic hypogonadism

TACR3

Hypogonadotropic hypogonadism

TBX5+del+dup

Holt-Oram syndrome (HOS) (Heart-hand syndrome) (Atriodigital dysplasia)

TBX6+dup

Spondylocostal dysostosis, autosomal dominant (SCDO)

TBX15

Cousin syndrome (COUSS) (Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature) (Pelviscapular dysplasia)

TBX18

anterior and posterior somite compartments, maintains the separation of

 

otic fibrocyte differentiation, role in

 

posterior pole of the heart, role in formation of posterior pole of the

 

ureter, role in formation of

 

vertebral column, role in formation of

TCAB1 (offiz. WRAP53)

Dyskeratosis congenita, autosomal recessive 3

TCOF1+del

Hemifacial microsomia (HFM) (Goldenhar syndrome) (Oculoauriculovertebral dysplasia (OAVD))

 

Treacher Collins syndrome 1 (TCS1)

TCTN3

Joubert syndrome 18 (JBTS18)

 

Orofaciodigital syndrome IV (OFD4) (Mohr-Majewski syndrome)

TEM8 (offiz. ANTXR1)

Hemangioma, capillary infantile, susceptibility to

TERC

Aplastic anemia, susceptibility to (AA)

 

Dyskeratosis congenita, autosomal dominant 1

 

Pulmonary fibrosis, idiopathic, susceptibility to (IPF)

TERT

Bone marrow failure, telomere-related, 1

 

Coronary artery disease

 

Dyskeratosis congenita, autosomal dominant 2

 

Dyskeratosis congenita, autosomal recessive 4

 

Leukemia, acute myeloid

 

Melanoma, cutaneous malignant, 9

 

Pulmonary fibrosis, telomere-related, 1

TGFB2+del

Loeys-Dietz syndrome, type 4 (LDS4)

TGFBR1+dup

Loeys-Dietz syndrome, type 1A (LDS1A) (Furlong syndrome)

 

Loeys-Dietz syndrome, type 2A (LDS2A) (Aortic aneurysm, familial thoracic 5 (AAT5))

 

Multiple self-healing squamous epithelioma, susceptiblity to (MSSE)

TGFBR2

Colorectal cancer, hereditary nonpolyposis, type 6 (HNPCC6)

 

Esophageal cancer, somatic

 

Loeys-Dietz syndrome, type 1B (LDS1B)

 

Loeys-Dietz syndrome, type 2B (LDS2B) (Aortic aneurysm, familial thoracic 3 (AAT3))

THRB

Thyroid hormone resistance, generalized, autosomal dominant (GRTH = GTHR)

 

Thyroid hormone resistance, generalized, autosomal recessive (GRTH) (Refetoff syndrome)

 

Thyroid hormone resistance, selective pituitary (PRTH)

TINF2

Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)

TINF2

Revesz syndrome (exudative retinopathy with bone marrow failure (ERBMF))

TMEM38B+del

Osteogenesis imperfecta, autosomal recessive

TNFRSF11B (=OPG)

Paget disease, juvenile (JPD) (Hyperphosphatasia, chronic congenital idiopathic)

TNNI2

Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B)

TNNI3

Cardiomyopathy, dilated, 1FF

 

Cardiomyopathy, dilated, 2A

 

Cardiomyopathy, familial hypertrophic, 7

 

Cardiomyopathy, familial restrictive

TNNT3

Arthyrgryposis, distal, type 2B (DA2B) (= Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B)) (Sheldon-Hall syndrome (SHS))

TNSALP (offiz. ALPL)+del

Hypophosphatasia (HOPS), adult, childhood, infantile or perinatal lethal

 

Odontohypophosphatasia

TP63 (=p63)

ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome

 

Cervical cancer

 

Colon cancer

 

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)

 

Hay-Wells syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome)

 

Head cancer

 

Limb-mammary syndrome (LMS)

 

Lung cancer

 

Neck cancer

 

Orofacial cleft 8 (OFC8)

 

Ovarian cancer

 

Rapp-Hodgkin syndrome (RHS) (Ectodermal dysplasia, anhidrotic, with cleft lip/palate)

 

Split-hand/foot malformation 4 (SHFM4)

TPM1

Cardiomyopathy, dilated, 1Y (CMD1Y)

 

Cardiomyopathy, familial hypertrophic, 3 (CMH3)

TPM2

Arthrogryposis, distal, type 1A (DA1A) (Arthrogryposis multiplex congenita, distal, type 1 (AMCD1))

 

Arthrogryposis, distal, type 2B (DA2B) (Sheldon-Hall syndrome (SHS))

 

Nemaline myopathy 4 (NEM4)

TRAPPC2 (= SEDLIN)+del

Spondyloepiphyseal dysplasia tarda, X-linked (SEDT)

TRIP11

Achondrogenesis, type IA (ACG1A) (Achondrogenesis, Houston-Harris type)

 

Leukemia, acute myelogenous

TRPS1+del

Trichorhinophalangeal syndrome, type I (TRPS1)

 

Trichorhinophalangeal syndrome, type III (TRPS3) (Sugio-Kajii syndrome)

TRPS1del

Trichorhinophalangeal syndrome, type II (TRPS2) (Langer-Giedion syndrome (LGS)) (Chromosome 8q24.1 deletion syndrome)

TRPS2+del (offiz. EXT1)

Chondrosarcoma (CHDSA)

 

Exostoses, multiple, type 1 (EXT1) (=Osteochondromas, multiple)

 

Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2))

TRPV4

Brachyolmia type 3 (BRAC3)

 

Hereditary motor and sensory neuropathy, type IIc (HMSN2C)

 

Metatropic dysplasia (MTD)

 

Parastremmatic dwarfism (PSTD)

 

Scapuloperoneal spinal muscular atrophy (SPSMA)

 

Spondyloepiphyseal dysplasia (SED), Maroteaux type (SEDM) (Pseudo-Morquio syndrome, type 2)

 

Sodium serum level QTL 1 (SSQTL1) (Hyponatremia)

 

Spinal muscular atrophy, distal, congenital nonprogressive (DSMAC)

 

Spondylometaphyseal dysplasia (SMD), Kozlowski type (SMDK)

TSC1+del

Focal cortical dysplasia of Taylor (FCDT)

 

Focal cortical dysplasia of Taylor, type IIA

 

Lymphangioleiomyomatosis (LAM) (Lymphangiomatosis)

 

Tuberous sclerosis-1 (TSC1)

TSC2+del

Lymphangioleiomyomatosis, somatic

 

Tuberous sclerosis-2 (TSC2)

TSPY1 (=TSPY)

Gonadoblastoma (GBY)

TWIST1+del

Craniosynostosis, type 1 (CRS1)

 

Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III (ACS3))

 

Saethre-Chotzen syndrome with eyelid anomalies (Blepharophimosis, epicanthus inversus, and ptosis 3 (BPE3), formerly)

 

Scaphocephaly (Oxycephaly)

Gen

Krankheit

                                                                                                                                                                                                                                                                                                                                                                                                                                       

UBE3A+del

Angelman syndrome (AS) (happy puppet syndrome, formerly)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

USB1 (=C16orf57)

Poikiloderma with neutropenia (PN) (Poikiloderma with neutropenia, Clericuzio-type)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

VAX1

Anophthalmia

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Microphthalmia

                                                                                                                                                                                                                                                                                                                                                                                                                                       

VEGFA

Microvascular complications of diabetes, susceptibility to, 1 (MVCD1)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

VHL+del

Erythrocytosis, familial, 2 (ECYT2) (Polycythemia, Chuvash type)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Hemangioblastoma, cerebellar, somatic

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Pheochromocytoma

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Renal cell carcinoma, somatic (RCC) (Hypernephroma) (Adrenocarcinoma of kidney)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

von Hippel-Lindau syndrome (VHLS) (von Hippel-Lindau disease (VHLD))

                                                                                                                                                                                                                                                                                                                                                                                                                                       

VLCAD (offiz. ACADVL)

Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WDR34

Asphyxiating thoracic dystrophy (Jeune syndrome)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WDR35+del

Cranioectodermal dysplasia 2 (CED2) (Sensenbrenner syndrome)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Short rib-polydactyly syndrome, type V (SRPS5)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WDR60

Short rib-polydactyly syndrome, type VI (SRPS6)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WFS1+del

Diabetes mellitus, noninsulin-dependent (NIDDM), association with

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Deafness, autosomal dominant 6/14/38 (DFNA6/14/38)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Wolfram syndrome 1 (WFS1) (Diabetes insipidus and mellitus with optic atrophy and deafness (DIDMOAD))

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Wolfram-like syndrome, autosomal dominant (WFSL) (Hearing loss, progressive, with optic atrophy and/or impaired glucose regulation)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WISP3

Arthropathy, progressive pseudorheumatoid, of childhood (PPAC) (Progressive pseudorheumatoid dysplasia (PPD))

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WNT1

Osteogenesis imperfecta

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WNT4

Mullerian aplasia and hyperandrogenism (MULLAPL) (Mullerian duct failure and hyperandrogenism)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

SERKAL syndrome (46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL))

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WNT7A

Fuhrmann syndrome (FUHRS) (Fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactyly)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Ulna and fibula, absence of, with severe limb deficiency (Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS)) (Al-Awadi/Raas-Rothschild syndrome (AARRS)) (Schinzel phocomelia syndrome)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WNT10A

Ectodermal dysplasia, hypohidrotic/anhidrotic

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Odontoonychodermal dysplasia (OODD)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Schopf-Schulz-Passarge syndrome (SSPS) (Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Succedaneous teeth, agenesis of

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Tooth agenesis, selective, 4 (STHAG4) (Lateral incisors, pegged or missing)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WNT10B

Split-hand/foot malformation 6 (SHFM6) (Ectrodactyly, autosomal recessive)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WRAP53 (= TCAB1)

Dyskeratosis congenita, autosomal recessive 3

                                                                                                                                                                                                                                                                                                                                                                                                                                       

WT1+del

Denys-Drash syndrome (DDS) (Nephropathy, Wilms tumor, and genital anomalities)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Desmoplastic small round cell tumor (DSRCT)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Frasier syndrome (FS)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Meacham syndrome (MEACHS)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Mesothelioma, somatic (MESOM)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Nephrotic syndrome, type 4 (NPHS4)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome (Chromosome 11p13 deletion syndrome)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Wilms tumor, type 1 (WT1) (Nephroblastoma)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

XPB (offiz. ERCC3)

Ichthyosiform erythroderma with hair abnormality and mental and growth retardation (Tay syndrome)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Trichothiodystrophy, photosensitive (TTDP)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Xeroderma pigmentosum, group B (XBP)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Xeroderma pigmentosum/Cockayne syndrome (XPB/CS)

                                                                                                                                                                                                                                                                                                                                                                                                                                       

XYLT1

Desbuquois dysplasia Type 2"XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

XYLT1

 

Pseudoxanthoma elasticum (PXE) (Gronblad-Strandberg syndrome), modifier of severity of

                                                                                                                                                                                                                                                                                                                                                                                                                                       
 

Short stature syndrome, autosomal recessive, with intellectual disability

                                                                                                                                                                                                                                                                                                                                                                                                                                       

ZEB2+del

Mowat-Wilson syndrome (MWIS)

                                                                                                                                                                                                                                                                                                                                                                                                                                       
Krankheiten

Krankheit

Gen

3M syndrome

CUL7, OBSL1, CCDC8, FBXW8

46,XX Gonadal dysgenesis, complete, SRY-positive

SRY

46,XX sex reversal 1 (SRXX1)

SRY

46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL)

WNT4

46,XX sex reversal, SRY-positive

SRY

46,XX True hermaphroditism, SRY-positive

SRY

46,XY Gonadal dysgenesis, complete

SRY

46,XY gonadal dysgenesis, complete or partial, with or without adrenal failure

NR5A1

46,XY Gonadal dysgenesis, complete, SRY-related

SRY

46,XY sex reversal (SRXY)

SRY, NR5A1

46,XY sex reversal, partial or complete, NR5A1-related

NR5A1

46,XY sex reversal, SRY-related

SRY

46,XY True hermaphroditism, SRY-related

SRY

Aarskog-Scott syndrome (AAS)

FGD1+del

Abdominal aortic aneurysm

COL3A1+del

Achondrogenesis IA (ACG1A)

TRIP11

Achondrogenesis Ib (ACG1B)

SLC26A2 (=DTDST)

Achondrogenesis II (ACG2)

COL2A1+del

Achondrogenesis, Houston-Harris type

TRIP11

Achondrogenesis, Langer-Saldino type

COL2A1+del

Achondrogenesis, type 2, formerly

GDF5 (=CDMP1)

Achondroplasia (ACH)

FGFR3

Acid-labile subunit, deficiency of (ALSD)

IGFALS

Acrocallosal syndrome

KIF7

Acrocapitofemoral dysplasia (ACFD)

IHH

Acrocephalopolysyndactyly type 2 (ACPS2)

RAB23

Acrocephalosyndactyly (ACS)

FGFR1+del (=KAL2), FGFR2+del, TWIST1+del

Acrocephaly, skull asymmetry, and mild syndactyly

FGFR2+del, TWIST1+del

Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome

TP63 (=p63)

Acrodysostosis, with or without hormone resistance (ACRDYS)

PRKAR1A+del, PDE4D

Acrofacial dysostosis, type Weyers

EVC (=EVC1)+del, EVC2+del

Acromesomelic chondrodysplasia with genital anomalies (AMDGA)

BMPR1B

Acromesomelic dwarfism

GDF5 (=CDMP1)

Acromesomelic dysplasia, Grebe type (AMDG)

GDF5 (=CDMP1)

Acromesomelic dysplasia, Hunter-Thompson type (AMDH)

GDF5 (=CDMP1)

Acromesomelic dysplasia, Maroteaux type (AMDM)

NPR2

Acromicric dysplasia (ACMICD)

FBN1+del

Acropachy, hereditary

HPGD

Acyl-CoA dehydrogenase medium chain deficiency (ACADM)

ACADM (=MCAD)+del

Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD)

ACADVL (=VLCAD)

Adenocarcinoma of lung, somatic

BRAF

Adenoma, periampullary, somatic

APC+del+dup

Adenomas, salivary gland pleomorphic (PSA; SGPA)

CTNNB1; LIFR

Adenomatous polyposis coli, familial (FAP)

APC+del+dup

Adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency

POR+del

Adrenocarcinoma of kidney

VHL+del

Adrenocortical insufficiency

NR5A1

Adrenocortical nodular dysplasia, primary

PRKAR1A+del

Adrenocortical tumor, somatic

PRKAR1A+del

ADULT syndrome (= Acro-dermato-ungual-lacrimal-tooth syndrome)

TP63 (=p63)

AEC syndrome

TP63 (=p63)

AEG syndrome

SOX2+del

Aganglionic megacolon (MGC)

EDN3

AGAT deficiency

GATM

Alagille syndrome, type 1 (ALGS1)

JAG1+del+dup

Al-Aqeel Sewairi syndrome

MMP14, MMP2

Al-Awadi/Raas-Rothschild syndrome (AARRS)

WNT7A

Albright hereditary osteodystrophy-like syndrome

HDAC4+del

Allan-Herndon syndrome

SLC16A2 (=MCT8)+del

Allan-Herndon-Dudley syndrome (AHDS)

SLC16A2 (=MCT8)+del

Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity (T-CMVA)

RAG1+del

Alpha-Galactosidase A deficiency

GLA+del

Alpha-thalassemia myelodysplasia syndrome (ATMDS)

ATRX+del+dup

Alpha-thalassemia/mental retardation syndrome, nondeletion type

ATRX+del+dup

Alpha-thalassemia/mental retardation syndrome, X-linked (ATRX)

ATRX+del+dup

Alport syndrome

COL4A5, COL4A3, COL4A4

Alport syndrome and diffuse leiomatosis (ATS-DL)

COL4A5+del

Amyotrophy, neurogenic scapuloperoneal, New England type

TRPV4

Anauxetic dysplasia

RMRP, POP1

Anderson-Fabry disease

GLA+del

Anemia, X-linked, with/without neutropenia and/or platelet abnormalities ( XLANP)

GATA1

Aneurysm, abdominal aortic (AAA)

COL3A1+del

Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

TGFB2+del

Aneurysms-osteoarthritis syndrome

SMAD3

Angelman syndrome (AS)

UBE3A+del

Angelman syndrome-like

MECP2+del, CDKL5+del+dup

Angioedema, hereditary, type I+II (HAE1+2)

SERPING1 (=C1NH)+del

Angiokeratoma corporis diffusum

GLA+del

Angioneurotic edema, hereditary (HANE)

SERPING1 (=C1NH)+del

Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC)

COL4A1, COL4A2

Aniridia (AN)

PAX6+del

Aniridia II (AN2), formerly

PAX6+del

Aniridia, cerebellar ataxia, and mental deficiency (ACAMD)

PAX6+del

Aniridia, cerebellar ataxia, and mental retardation (ACAMR)

PAX6+del

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC)

TP63 (=p63)

Anophthalmia

VAX1

Anophthalmia, clinical, with associated anomalies

SOX2+del

Anophthalmia-esophageal-genital (AEG) syndrome

SOX2+del

Antibody deficiency and immune dysregulation, PLACG2-associated (PLAID)

PLCG2del

Antley-Bixler syndrome (ABS)

POR+del, FGFR2+del

Antoplo disease

LAMP2+del

Anus, imperforate, with hand, foot, and ear anomalies

SALL1+del

Aortic aneurysm and dissection, familial thoracic (TAAD)

MYH11+dup

Aortic aneurysm, ascending, and dissection

FBN1+del

Aortic aneurysm, familial abdominal 1 (AAA1)

COL3A1+del, TGFBR2, MYH11+dup, TGFBR1+dup, ACTA2, MYLK

Aortic dissection, familial, with or without aortic aneurysm

MYLK

Aortic stenosis, calcific

NOTCH1+del

Aortic valve disease

NOTCH1+del

Aortic valve disease 1 (AOVD1)

NOTCH1+del

Aortic valve, bicuspid

NOTCH1+del

Aortic valve, calcification of

NOTCH1+del

Apert syndrome (APRS)

FGFR2+del

Aplasia of lacrimal and salivary glands (ALSG)

FGF10+del

Aplastic anemia, susceptibility to (AA)

TERC+del, TERT+del

APOC2 deficiency

APOC2+del

Apolipoprotein C-II deficiency

APOC2+del

Arginine:glycine amidinotransferase deficiency

GATM

Arthrochalasis multiplex congenita

COL1A2+del

Arthrogryposis multiplex congenita, distal, type 1 (AMCD1)

TPM2

Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B)

TNNT3, TNNI2, MYH3, TPM2

Arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities

TNNT3, TNNI2, TPM2

Arthrogryposis, distal, type 1 (DA1)

TPM2

Arthrogryposis, distal, type 1A (DA1A)

TPM2

Arthrogryposis, distal, type 2A (DA2A)

MYH3

Arthrogryposis, distal, type 2B (DA2B)

TNNT3, TNNI2, MYH3, TPM2

Arthrogryposis, distal, type 9 (DA9)

FBN2

Arthroophthalmopathy, hereditary progressive (AOM)

COL2A1+del

Arthropathy, progressive pseudorheumatoid, of childhood (PPAC)

WISP3

Asphyxiating thoracic dystrophy

WDR34, IFT80, DYNC2H1

Asplenia, familial

RPSA (= LAMR1)

Asplenia, isolated congenital (ICAS)

RPSA (= LAMR1)

Ataxia with lactic acidosis II

PC

Ateliotic dwarfism with hypogonadism

PROP1+del

Atelosteogenesis (AO)

FLNB, SLC26A2 (=DTDST)

Athabaskan brainstem dysgenesis syndrome (ABSD)

HOXA1

Atopy

SPINK5

ATR, nondeletion type

ATRX+del+dup

Atrial myxoma, familial

PRKAR1A+del

Atrial septal defect (ASD)

GATA4+del, NKX2-5

Atriodigital dysplasia

TBX5+del+dup

Atrioventricular septal defect (AVSD)

GATA4+del, CRELD

ATR-X syndrome

ATRX+del+dup

Atypical mycobacterial infection, disseminated, X-linked type 1

IKBKG (=NEMO)+del

Atypical mycobacteriosis, familial (AMCBX1)

IKBKG (=NEMO)+del

Autism susceptibility, X-linked 3 (AUTSX3)

MECP2+del

Autonomic control, congenital failure of

EDN3

Avascular necrosis of the femoral head (ANFH)

COL2A1+del

Axenfeld-Rieger syndrome (ARS)

PITX2+del

Krankheit

Gen

Bannayan-Riley-Ruvalcaba syndrome (BRRS)

PTEN+del

Bannayan-Zonana syndrome (BZS)

PTEN+del

Baraitser-Burn syndrome

TCTN3

Barraquer-Simons syndrome

LMNB2

Bart-Pumphrey syndrome (BPS)

GJB2 (=CX26)

Basal cell carcinoma, somatic (BCC)

PTCH1+del, PTCH2

Basal cell nevus syndrome (BCNS)

PTCH1+del

Beals syndrome

FBN2

Beare-Stevenson cutis gyrata syndrome (BSTVS)

FGFR2+del

Beckwith-Wiedemann syndrome (BWS)

CDKN1C+dup; NSD1 (=SOTOS)+del

Benign hypermobility syndrome

COL3A1+del

Berardinelli syndrome

BSCL2+del

Berardinelli-Seip congenital lipodystrophy (BSCL)

AGPAT2+del, BSCL2+del, CAV1, PTRF

Beta-Galactosidase-1 (GLB1) deficiency

GLB1+del+dup

Bicuspid aortic valve (BAV)

NOTCH1+del

Bile acid synthesis defect, congenital, 3 (CBAS3)

CYP7B1

Biodefective growth hormone

GH1+del+dup

Blackfan-Diamond Syndrome; BDS

Phase 1: Sequenzierung RPS19, RPL5, RPL11, RPS26, RPL35a Phase 2: Deletionsanalyse der RP-Gene mittels Array-CGH Phase 3: Sequenzierung RPS10, RPS24, RPS7, RPL15, RPL26, RPL15, GATA1

Bladder cancer, somatic (BLC)

KRAS, FGFR3, HRAS

Blepharophimosis, epicanthus inversus, and ptosis

FOXL2+del+dup, TWIST1+del

Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type

MED12

Bohring-Opitz syndrome

CD96

Bone marrow failure, familial (BMFF)

SRP72

Bone marrow failure, telomere-related, 1

TERT

Bone modeling defect of hands and feet

PTH1R (= PTHR)

Boomerang dysplasia

FLNB

Bosley-Salih-Alorainy syndrome (BSAS)

HOXA1

Brachydactyly, Haws type

GDF5 (=CDMP1)

Brachydactyly, type A1 (BDA1)

IHH

Brachydactyly, type A2 (BDA2)

GDF5 (=CDMP1), BMP2+del+dup, BMPR1B

Brachydactyly, type B2 (BDB2)

NOG

Brachydactyly, type C (BDC)

GDF5 (=CDMP1)

Brachydactyly, type D (BDD)

HOXD13+del

Brachydactyly, type E (BDE)

HOXD13+del

Brachydactyly, type E1 (BDE1)

HOXD13+del

Brachydactyly-mental retardation syndrome (BDMR)

HDAC4+del

Brachydactyly-syndactyly syndrome (BDSD)

HOXD13+del, MBOAT1+del

Brachymelic primordial dwarfism

RNU4ATAC

Brachymesophalangy II

GDF5 (=CDMP1), BMP2+del+dup, BMPR1B

Brachyolmia, autosomal dominant

TRPV4

Brachyolmia, autosomal recessive

PAPSS2

Brachyrachia

TRPV4

Brain small vessel disease with Axenfeld-Rieger anomaly

COL4A1, COL4A2

Brain small vessel disease with hemorrhage (BSVDH)

COL4A1, COL4A2

Brain tumor, posterior fossa, of infancy, familial)

SMARCB1 (=INI1)+del

Brain tumor-polyposis syndrome 1 (BTPS1

MLH1+del, MSH2+del, MSH6+del, PMS2+del

Brain tumor-polyposis syndrome 2

APC+del+dup

Breast cancer, somatic (BC)

KRAS, AKT1

Bruck syndrome 2 (BRKS2)

PLOD2

Brunzell syndrome

AGPAT2+del, BSCL2+del

Budd-Chiari syndrome, susceptibility to (BDCHS)

JAK2

Bulldog syndrome

GPC3+del, GPC4del+dup

Krankheit

Gen

C syndrome (CSYN)

CD96

C1 esterase inhibitor, deficiency of

SERPING1 (=C1NH)+del

C8 beta deficiency

C8B

C8 deficiency, type II

C8B

C8B deficiency

C8B

Cafe-au-lait spots with glioma or leukemia

MLH1+del

Cafe-au-lait spots with pulmonic stenosis

NF1+del

Cafe-au-lait spots, multiple, with leukemia (DD zu MMRCS)

MSH2+del

Caffey disease (CAFFD)

COL1A1+del

Calcinosis, tumoral, with hyperphasphatemia

FGF23

Camptodactyly tall stature and hearing loss (CATSHL) syndrome

FGFR3

Cardiofaciocutaneous syndrome (CFCS)

BRAF, KRAS, MAP2K1 (=MEK1), MAP2K2 (=MEK2)

Cardiogenital syndrome

LMNA+del

Cardiomyopathy, congestive, with hypergonadotropic hypogonadism

LMNA+del

Cardiomyopathy, dilated

LMNA+del, TNNI3, TPM1

Cardiomyopathy, dilated, with hypergonadotropic hypogonadism

LMNA+del

Cardiomyopathy, dilated, with premature ovarian failure

LMNA+del

Cardiomyopathy, dilated, with primary testicular failure

LMNA+del

Cardiomyopathy, familial hypertrophic

TPM1, TNNI3

Carney complex, type 1 (CNC1)

PRKAR1A+del

Carney myxoma-endocrine complex

PRKAR1A+del

Carney syndrome (CAR)

PRKAR1A+del

Carnitine palmitoyltransferase 2 deficiency, infantile (CPT2DI)

CPT2

Carnitine palmitoyltransferase 2 deficiency, late-onset (CPT2D)

CPT2

Carnitine palmitoyltransferase 2 deficiency, lethal neonatal (CPT2D-LN)

CPT2

Carpenter syndrome (CARPS)

RAB23

Carpenter-Waziri syndrome (CWS)

ATRX+del+dup

Cartilage-hair hypoplasia (CHH)

RMRP

Cartilage-hair hypoplasia variant, skeletal manifestations only (CHHV)

RMRP

Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency

RMRP

Cataract with late-onset corneal dystrophy

PAX6+del

Catlin marks

MSX2+del

CATSHL syndrome (= camptodactyly tall stature and hearing loss syndrome)

FGFR3

CBL syndrome

CBL

Cchondrodystrophy with sensineural deafness

COL2A1+del, COL11A2

Central hypoventilation syndrome, congenital (CCHS)

EDN3

Cephaloskeletal dysplasia

RNU4ATAC

Cerebelloparenchymal disorder VI (CPD6)

PTEN+del

Cerebral creatine deficiency syndrome (CCDS)

SLC6A8+del, GAMT, GATM

Cerebral gigantism

NSD1 (=SOTOS)+del, NFIX

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

CTC1

Cervical cancer

TP63 (=p63)

Cervical cancer, somatic (CERCA)

FGFR3

CFC syndrome

BRAF, KRAS, MAP2K1 (=MEK1), MAP2K2 (=MEK2)

Charcot-Marie-Tooth disease

LMNA+del, TRPV4

Charcot-Marie-Tooth neuropathy

LMNA+del, TRPV4

CHARGE syndrome

CHD7 (=KAL5)+del

Chondrodysplasia punctata, rhizomelic form (CDPR)

PEX7+del

Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2)

EBP (=CPX)

Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP)

IMPAD1

Chondrodysplasia with multiple dislocations, CDMD

CHST3 (=C6ST1)

Chondrodysplasia, Blomstrand type (BOCD)

PTH1R (= PTHR)

Chondrodysplasia, Grebe type

GDF5 (=CDMP1)

Chondrodystrophia calcificans punctata

PEX7+del

Chondroectodermal dysplasia

EVC (=EVC1)+del, EVC2+del

Chondrogenesis imperfecta

COL2A1+del

Chondrosarcoma (CHDSA)

EXT1+del (=TRPS2), EXT2+del

Chotzen syndrome

FGFR2+del, TWIST1+del

Chromosome 10q23 deletion syndrome

BMPR1A+del, PTEN+del

Chromosome 11p11.2 deletion Syndrome

EXT2+del, ALX4

Chromosome 11p13 deletion syndrome

PAX6del, WT1del

Chromosome 11p13-p12 deletion syndrome

PAX6del, WT1del

Chromosome 16p13.3 deletion syndrome

CREBBP+del

Chromosome 2p16.3 deletion syndrome

NRXN1del

Chromosome 2q37.2 deletion syndrome

HDAC4+del

Chromosome 5q14.3 deletion syndrome

MEF2C del

Chromosome 8q24.1 deletion syndrome

TRPS1del

Chromosome Xq22.3 centromeric deletion syndrome

COL4A5del

Chronic infantile neurologic cutaneous and articular syndrome (CINCA)

NLRP3 (=NALP3)

Chronic neurologic cutaneous and articular syndrome

NLRP3 (=NALP3)

Chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and neutrophilic dermatosis (Sweet syndrome)

LPIN2

Chudley-Lowry syndrome

ATRX+del+dup

Chylomicronemia, familial

LPL+del+dup

C-II Anapolipoproteinemia

APOC2+del

CINCA syndrome

NLRP3 (=NALP3)

Cleft lip and/or palate with mucous cysts of lower lip

IRF6+del

Cleft lip with or without cleft palate, nonsyndromic (CL/P)

BMP4, IRF6+del, TP63 (=p63)

Cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and geneital anomalies faciogenitopopliteal syndrome

IRF6+del

Cleidocranial dysostosis (CLCD)

RUNX2+del

Cleidocranial dysplasia (CCD)

RUNX2+del

Cleidocranial dysplasia with parietal foramina

MSX2+del

C-like syndrome (CLSYN)

CD96

Clubbing of digits

HPGD

Coats plus syndrome

CTC1

Coffin-Lowry syndrome (CLS)

RPS6KA3 (=RSK2) +del+dup

Cold autoinflammatory syndrome, familial (FCAS)

NLRP3 (=NALP3), NLRP12 (=NALP12)

Cold urticaria, familial (FCU)

NLRP3 (=NALP3)

Cold-induced autoinflammatory syndrome, familial (FCAS)

NLRP3 (=NALP3)

Coloboma of iris, choroid, and retina (COI) = Coloboma, uveoretinal)

PAX6+del

Coloboma of optic nerve (COLON)

PAX6+del

Coloboma of optic nerve with renal disease

PAX2+del

Coloboma, ocular (COLO)

PAX6+del

Coloboma, uveoretinal

PAX6+del

Colorectal cancer (CRC)

CTNNB1, TP63 (=p63), EP300+del, SMAD4

Colorectal cancer, hereditary nonpolyposis (HNPCC)

MSH2+del, MLH1+del, PMS2+del, MSH6+del, TGFBR2+del, MLH3

Colorectal cancer, somatic (CRC)

MLH3, AKT1, APC, BRAF

Combined cellular and humoral immune defects with granulomas (CCHIDG)

RAG1+del, RAG2+del

Combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections

GATA2

Commissural cleft, isolated

PTCH2

Complement component 4 (C4), partial deficiency of

SERPING1 (=C1NH)+del

Complement component 8 deficiency, type II (C8D2)

C8B

Complement component 8B deficiency

C8B

Complex I deficiency, mitochondrial

ECSIT

Congenital 'healed' cleft lip (CHCL)

BMP4

Congenital hypothalamic hamartoma syndrome (CHHS)

GLI3+del+dup

Congenital mydriasis

ACTA2

Conotruncal anomaly face syndrome (CAFS)

NKX2-5

Conotruncal heart malformations, variable (CTHM)

NKX2-5

Conradi-Hunermann-Happle syndrome

EBP (=CPX)

Contractural arachnodactyly, congenital (CCA)

FBN2

Copper transport disease

ATP7A+del+dup

Cornelia de Lange syndrome (CDLS)

NIPBL+del, SMC1A (=SMC1L1)+del+dup , SMC3

Coronary artery disease

TERT

Coronary artery disease, susceptiblity to (CAD)

TERT+del

Corpus callosum, agenesis of (ACC), with abnormal genitalia

ARX+del+dup

Cortical dysplasia of Taylor (CDT)

TSC1+del

Cortical dysplasia of Taylor with balloon cells (CDTBC)

TSC1+del

Cortical dysplasia of Taylor without balloon cells

TSC1+del

Cortical dysplasia of Taylor, dysplasia only (CDTD)

TSC1+del

Cortical hyperostosis with hyperphosphatemia

FGF23

Costello syndrome

HRAS

Cousin syndrome (COUSS)

TBX15

Cowden disease (CD)

PTEN+del

Cowden syndrome (CS)

PTEN+del

CPT deficiency, hepatic, type II

CPT2

CPT II deficiency, lethal neonatal

CPT2

CPT II deficiency, myopathic

CPT2

Craniodiaphyseal dysplasia, autosomal dominant (CDD)

SOST

Cranioectodermal dysplasia (CED)

IFT122, WDR35+del, IFT43

Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature

TBX15

Craniofacial dysostosis type I (CFD1)

FGFR2+del

Craniofacial-deafness-hand syndrome (CDHS)

PAX3+del

Craniofacial-skeletal-dermatologic dysplasia

FGFR2+del

Craniofrontonasal dysostosis

EFNB1+del+dup

Craniofrontonasal dysplasia (CFND)

EFNB1+del+dup

Craniofrontonasal syndrome (CFNS)

EFNB1+del+dup

Craniomandibular dermatodysostosis

LMNA+del

Cranioosteoarthropathy (COA)

HPGD

Craniostenosis

FGFR2+del, TWIST1+del, MSX2+del

Craniosynostosis (CRS)

FGFR2+del, TWIST1+del, MSX2+del

Craniosynostosis with arachnodyctyly and abdominal hernias

SKI

Craniosynostosis, metopic

FGFR1+del (=KAL2)

Craniosynostosis, midfacial hypoplasia, and foot anomalies

FGFR1+del (=KAL2), FGFR2+del

Cranium bifidum occultum

MSX2+del

Cranium bifidum, hereditary

MSX2+del

Creatine deficiency syndrome due to AGAT deficiency

GATM

Creatine deficiency syndrome due to GAMT deficiency

GAMT

Creatine deficiency syndrome, X-linked

SLC6A8+del

Creatine transporter defect

SLC6A8+del

Crossed polydactyly, type I (CP1)

GLI3+del+dup

Crouzon syndrome (CS)

FGFR2+del

Crouzon syndrome with acanthosis nigricans

FGFR3

Cryopyrin-associated periodic syndrome (CAPS)

NLRP3 (=NALP3)

Currarino idiopathic osteoarthropathy (CIO)

HPGD

Curry-Hall syndrome

EVC (=EVC1)+del, EVC2+del

Cushing symphalangism

GDF5 (=CDMP1), NOG

Cushing syndrome, adrenal, due to PPNAD1

PRKAR1A+del

Cutis laxa with progeroid features

PYCR1+del

Cutis laxa, autosomal dominant, 1 (ADCL1)

ELN+del

Cutis laxa, autosomal recessive (ARCL)

ATP6V0A2+del, PYCR1+del

Cutis laxa, X-linked, formerly

ATP7A+del+dup

Cytochrome P450 oxidoreductase deficiency

POR+del

Czech dysplasia

COL2A1+del

Krankheit

Gen

D-2-Hydroxyglutaric aciduria (D2HGA)

D2HGDH+del, IDH2

Danon disease (DAND)

LAMP2+del

Dappled metaphysis syndrome

COL2A1+del

D-bifunctional protein deficiency (DBPD)

HSD17B4+del (= DBP)

De Barsy Syndrome B

PYCR1+del

De la Chapelle dysplasia (DLCD)

SLC26A2 (=DTDST)

Deafness, autosomal dominant (DFNA)

GJB2 (=CX26), WFS1+del, COL11A2, MYO6

Deafness, autosomal dominant 22 (DFNA22), with hypertrophic cardiomyopathy

MYO6

Deafness, autosomal recessive

GJB2 (=CX26), MYO6, COL11A2

Deafness, congenital heart defects, and posterior embryotoxon

JAG1+del+dup

Deafness, sensorineural, with imperforate anus and thumb anomalies

SALL1+del

Defect11 syndrome

EXT2+del, ALX4

Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency (DCML)

GATA2

Dental anomalies, isolated

RUNX2+del

Dental noneruption

PTH1R (= PTHR)

Denys-Drash syndrome (DDS)

WT1+del

Dermatopathia pigmentosa reticularis (DPR)

KRT14

Desbuquois dysplasia (DBQD)

CANT1+del, XYLT1

Desmoid disease, hereditary (HDD)

APC+del+dup

Desmoplastic small round cell tumor (DSRCT)

WT1+del

Developmental delay, epilepsy, and neonatal diabetes (DEND)

KCNJ11

Diabetes insipidus and mellitus with optic atrophy and deafness (DIDMOAD)

WFS1+del

Diabetes mellitus, noninsulin-dependent (NIDDM)

ABCC8+del

Diabetes mellitus, noninsulin-dependent (NIDDM), association with

WFS1

Diabetes mellitus, permanent neonatal (PNDM)

ABCC8+del, KCNJ11

Diabetes mellitus, permanent neonatal, with neurologic features

KCNJ11

Diabetes mellitus, permanent, of infancy (PDMI)

ABCC8+del, KCNJ11

Diabetes mellitus, transient neonatal

ABCC8+del, KCNJ11

Diamond-Blackfan Anemia (DBA)

Phase 1: Sequenzierung RPS19, RPL5, RPL11, RPS26, RPL35a Phase 2: Deletionsanalyse der RP-Gene mittels Array-CGH Phase 3: Sequenzierung RPS10, RPS24, RPS7, RPL15, RPL26, RPL15, GATA1

Diastrophic dysplasia (DTD)

SLC26A2 (=DTDST)

Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB)

SLC26A2 (=DTDST)

Digital clubbing, isolated congenital

HPGD

Dihydrolipoamide dehydrogenase deficiency (DLDD)

DLD (=LAD)

Disorder of sex development, 46,XY

NR5A1

Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)

POR+del

Disordered steroidogenesis due to POR deficiency

POR+del

DLD deficiency

DLD (=LAD)

Double-outlet right ventricle (DORV)

NKX2-5

Drash syndrome

WT1+del

Du Pan syndrome (DPS)

GDF5 (=CDMP1)

Dwarfism of Sindh

GHRHR, GH1+del+dup

Dyggve-Melchior-Clausen disease (DMC)

DYM+dup

Dyschondroplasia

IDH1, IDH2, PTH1R (= PTHR)

Dyschondrosteosis (DCO)

SHOX+del

Dyschondrosteosis, homozygous

SHOX+del

Dyskeratosis congenita

DKC1, TRC, TERT, TINF2, RTEL1, NOP10, NHP2, CTC1, C16orf57

Dysplasia gigantism syndrome, X-linked (DGSX)

GPC3+del, GPC4del+dup

Dysplastic gangliocytoma of the cerebellum

PTEN+del

Dyssegmental dysplasia, Silverman-Handmaker type (DDSH)

HSPG2+del

Krankheit

Gen

E3 deficiency

DLD (=LAD)

Eccrine tumors with ectodermal dysplasia

WNT10A

Ectodermal dysplasia Rapp-Hodgkin type (EDRH)

TP63 (=p63)

Ectodermal dysplasia, anhidrotic, with cleft lip/palate

TP63 (=p63)

Ectodermal dysplasia, hypohidrotic/anhidrotic

WNT10A

Ectodermal dysplasia, hypohidrotic/anhidrotic, with immune deficiency

IKBKG (=NEMO)+del

Ectopia lentis, familial (EL)

FBN1+del

Ectopia lentis, isolated, autosomal dominant

FBN1+del

Ectopia pupillae

PAX6+del

Ectrodactyly, autosomal recessive

WNT10B

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3)

TP63 (=p63)

EEC syndrome 3

TP63 (=p63)

Ehlers-Danlos syndrome gravis

COL1A1+del

Ehlers-Danlos syndrome type I (EDS1)

COL1A1+del

Ehlers-Danlos syndrome type VII, autosomal dominant

COL1A1+del

Ehlers-Danlos syndrome type VIIA (EDS7A)

COL1A1+del

Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH)

FKBP14

Ehlers-Danlos syndrome, arterial type

COL3A1+del

Ehlers-Danlos syndrome, arthrochalasia type

COL1A1+del, COL1A2+del

Ehlers-Danlos syndrome, cardiac valvular form (EDSCV)

COL1A2+del

Ehlers-Danlos syndrome, ecchymotic type

COL3A1+del

Ehlers-Danlos syndrome, gravis type

COL5A1+del+dup, COL5A2

Ehlers-Danlos syndrome, hypermobility type

COL3A1+del

Ehlers-Danlos syndrome, kyphoscoliotic type

PLOD1+del+dup

Ehlers-Danlos syndrome, mild classic type

COL5A1+del+dup

Ehlers-Danlos syndrome, mitis type

COL5A1+del+dup

Ehlers-Danlos syndrome, occipital horn type, formerly

ATP7A+del+dup

Ehlers-Danlos syndrome, ocular-scoliotic type

PLOD1+del+dup

Ehlers-Danlos syndrome, progeroid form (EDSP)

B4GALT7, B3GALT6

Ehlers-Danlos syndrome, Sack-Barabas type

COL3A1+del

Ehlers-Danlos syndrome, severe classic type

COL5A1+del+dup, COL5A2

Ehlers-Danlos syndrome, type I (EDS I) (EDS1)

COL5A1+del+dup, COL5A2

Ehlers-Danlos syndrome, type II (EDS II) (EDS2)

COL5A1+del+dup

Ehlers-Danlos syndrome, type III (EDSIII; EDS3)

COL3A1+del

Ehlers-Danlos syndrome, type IV, autosomal dominant (EDS IV; EDS4)

COL3A1+del

Ehlers-Danlos syndrome, type IX (EDS IX) (EDS9), formerly

ATP7A+del+dup

Ehlers-Danlos syndrome, type VI (EDS6) (EDS VI)

PLOD1+del+dup

Ehlers-Danlos syndrome, type VIA, formerly (EDS6A, formerly)

PLOD1+del+dup

Ehlers-Danlos syndrome, type VIIB (EDS7B)

COL1A2+del

Ehlers-Danlos syndrome, vascular type

COL3A1+del

Eiken skeletal dysplasia (EISD)

PTH1R (= PTHR)

Eiken syndrome

PTH1R (= PTHR)

Ellis-van Creveld syndrome (EVC)

EVC (=EVC1)+del, EVC2+del

Emberger syndrome

GATA2

Emery-Dreifuss muscular dystrophy (EDMD) (EMD)

LMNA+del

Encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4)

CPT2

Encephalopathy, neonatal severe

MECP2+del

Enchondromatosis, multiple, Ollier type (ENCHOM)

IDH1, IDH2, PTH1R (= PTHR)

Endometrial cancer (ENDMC), susceptibility to

MLH1+del, MSH2+del

Endometrial cancer, familial (ENDMC)

MLH3, MSH6+del

Endometrial cancer, somatic (ENDMC)

PTEN+del

Enlarged vestibular aqueduct (EVA)

FOXI1

Epidermal nevus syndrome, formerly

KRAS

Epidermolysis bullosa simplex Dowling-Meara type (EBS-DM)

KRT14

Epidermolysis bullosa simplex Koebner type (EBS-K)

KRT14

Epidermolysis bullosa simplex Weber-Cockayne type (EBS-WC)

KRT14

Epidermolysis bullosa simplex, autosomal recessive (AREBS)

KRT14

Epidermolysis bullosa simplex, generalized (EBS generalized)

KRT14

Epidermolysis bullosa simplex, localized

KRT14

Epileptic encephalopathy, early infantile (EIEE)

ARX+del+dup, CDKL5+del+dup

Epiphyseal dysplasia, Fairbank type (EDMF)

COMP+del

Epiphyseal dysplasia, multiple, autosomal dominant (EDM)

COMP+del, MATN3, COL9A1, COL9A2, COL9A3

Epiphyseal dysplasia, multiple, autosomal recessive (EDM)

SLC26A2 (=DTDST)

Epiphyseal dysplasia, multiple, with myopia and deafness (EDMMD)

COL2A1+del

Epiphyseal dysplasia, Ribbing type (EDMR)

COMP+del

Erythrocytosis, autosomal recessive benign

VHL+del

Erythrocytosis, familial, 2 (ECYT2)

VHL+del

Erythrocytosis, somatic

JAK2

Esophageal cancer, somatic

TGFBR2

ESS1, formerly

TGFBR1+dup

ETFA deficiency

ETFA+del

ETFB deficiency

ETFB

ETFDH deficiency

ETFDH

Ethylmalonic-adipicaciduria (EMA)

ETFA+del, ETFB

Eunuchoidism, familial hypogonadotropic

GNRH1

Ewing sarcoma (ES)

FLI1

Exomphalos-Makroglossia-Gigantism syndrome (EMGS)

CDKN1C+dup; NSD1 (=SOTOS)+del

Exostoses, multiple, type (EXT)

EXT1+del (=TRPS2), EXT2+del

Exudative retinopathy with bone marrow failure (ERBMF)

TINF2

Krankheit

Gen

Fabry disease

GLA+del

Fabry disease, cardiac variant

GLA+del

Facioauriculovertebral sequence (FAVS)

TCOF1+del

Faciocutaneoskeletal syndrome (FCSS)

HRAS

Faciogenital dysplasia (FGDY)

FGD1+del

Failure of tooth eruption, primary (PFE)

PTH1R (= PTHR)

Familial atypical cold urticaria (FACU)

PLCG2 (nur del)

Familial cold autoinflammatory syndrome 3 (FCAS3)

PLCG2 (nur del)

Familial combined hyperlipidemia

LPL+del+dup

Familial idiopathic osteoarthropathy of childhood

HPGD

Fanconi renotubular syndrome 2 (FRTS2)

SLC34A1

Female Pseudo-Turner syndrome

PTPN11+dup

Ferguson-Smith type epithelioma

TGFBR1+dup

Fertile eunuch syndrome

GNRHR

Fetal hypokinesia sequence due to restrictive dermopathy

LMNA+del

FG syndrome (FGS)

MED12

FG syndrome 1 (FGS1)

MED12

Fibrochondrogenesis

COL11A1+del

Fibrodysplasia ossificans progressiva (FOP)

ACVR1

Fibromatosis, gingival, 1 (GINGF1) (GINGF) (GGF1)

SOS1

Fibromatosis, gingival, hereditary (HGF)

SOS1

Fibromyxoid sarcoma, low grade (LGFMS)

CREB3L2

Fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactyly

WNT7A

Fibular hypoplasia and complex brachydactyly

GDF5 (=CDMP1)

Finlay-Marks syndrome

KCTD1

Floating-Harbor syndrome (FLHS)

SRCAP

Focal cortical dysplasia of Taylor (FCDT)

TSC1+del

Focal cortical dysplasia, type II

TSC1+del

Focal dermal hypoplasia (FODH)

PORCN+del

Folate malabsorption, hereditary (HFM)

SLC46A1

Foramina parietalia permagna (FPP)

ALX4, MSX2+del

Foveal hypoplasia and presenile cataract syndrome

PAX6+del

Foveal hypoplasia with anterior segment anomalies or isolated

PAX6+del

Frasier syndrome (FS)

WT1+del

Freeman-Sheldon syndrome (FSS)

MYH3

Freeman-Sheldon syndrome variant (FSSV)

TNNT3, TNNI2, TPM2

Frontonasal dysplasia type 2 (FND2)

ALX4

Fructose intolerance, hereditary (HFI)

ALDOB+del

Fuhrmann syndrome (FUHRS)

WNT7A

Furlong syndrome

TGFBR1+dup

Galactose-1-phosphate uridylyltransferase deficiency

GALT+del

Galactosemia

GALT+del

Galactosyltransferase I deficiency, XGPT deficiency

B4GALT7

GALT deficiency

GALT+del

Gangliosidosis, generalized GM1

GLB1+del+dup

Gardner syndrome (GS)

APC+del+dup

Gastric cancer, somatic

APC+del+dup, FGFR2+del, KRAS

Gastrointestinal stromal tumor, familial (GIST)

KIT

GATA2 deficiency (MonoMAC (monocytopenia, NK- and B- lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to MDS/AML))

GATA2

GATM deficiency

GATM

Geleophysic dysplasia (GLPD)

ADAMTSL2, FBN1+del

Genital anomaly with cardiomyopathy

LMNA+del

Geroderma osteodysplastica

GORAB (=SCYL1BP1)

Geroderma osteodysplasticum (GO)

GORAB (=SCYL1BP1)

Giant cell chondrodysplasia

FLNB

Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

AKT1, PTEN+del

Gillespie syndrome (GS)

PAX6+del

GLA deficiency

GLA+del

Glioma (GLM)

IDH1

Glioma susceptibility 2 (GLM2)

PTEN+del

Glutaric acidemia II (GA2)

ETFDH, ETFA+del, ETFB

Glutaric acidemia IIA

ETFA+del

Glutaric acidemia IIB

ETFB

Glutaric acidemia IIC (GA2C)

ETFDH

Glutaric aciduria II (GA2)

ETFDH, ETFA+del, ETFB

Glutaric aciduria III (GA3)

C7orf10

Glutaryl-CoA oxidase deficiency

C7orf10

Glycogen storage disease Ia (GSD1A)

G6PC

Glycogen storage disease type 2B (GSD2B), formerly

LAMP2+del

GM1-gangliosidosis

GLB1+del+dup

Golabi-Rosen syndrome

GPC3+del, GPC4del+dup

Goldblatt syndrome

N.N.

Goldenhar syndrome

TCOF1+del

Goltz syndrome

PORCN+del

Goltz-Gorlin syndrome

PORCN+del

Gonadoblastoma (GBY)

TSPY1 (=TSPY)

Gonadotropin deficiency, familial idiopathic (FIGD)

GNRH1

Gorlin syndrome

PTCH1+del

Gorlin-Goltz syndrome

PTCH1+del

Greig cephalopolysyndactyly syndrome (GCPS)

GLI3+del+dup

Gronblad-Strandberg syndrome, modifier of severity of

XYLT1

Growth hormone deficiency with pituitary anomalies

HESX1+del

Growth hormone deficiency, isolated

GHRHR, GH1+del+dup

Growth-mental deficiency syndrome of Myhre

SMAD4

Guanidinoacetate methyltransferase (GAMT) deficiency

GAMT

Krankheit

Gen

Hamartomas, pulmonary chondroid

HMGA2

HANAC syndrome (Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps)

COL4A1, COL4A2

Hanhart dwarfism

PROP1+del

Happy puppet syndrome, formerly

UBE3A+del

Hauptmann-Thannhauser muscular dystrophy

LMNA+del

Hay-Wells syndrome

TP63 (=p63)

Head cancer

TP63 (=p63)

Hearing loss, non-syndromic

COL9A3

Hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

WFS1+del

Heart-hand syndrome

TBX5+del+dup

Heart-hand syndrome, Slovenian type

LMNA+del

Hemangioblastoma, cerebellar, somatic

VHL+del

Hemangioma, capillary infantile, susceptibility to (HCI)

ANTXR1 (=TEM8)

Hemangiomatosis

FLI1

Hematuria, benign familial (BFH)

COL4A3, COL4A4

Hemifacial microsomia (HFM)

TCOF1+del

Hemiparesis, and leukoencephalopathy, autosomal dominant

COL4A1, COL4A2

Hemiplegia, infantile, with porencephaly, type 1 (T1P)

COL4A1

Hemoglobin H disease, acquired

ATRX+del+dup

Hepatoblastoma

CTNNB1

Hepatoblastoma, somatic

APC+del+dup

Hepatocellular carcinoma (HCC)

CTNNB1

Hereditary absence of the proximal interphalangeal (PIP) joints

GDF5 (=CDMP1), NOG

Hereditary motor and sensory neuropathy, type IIc (HMSN2C)

TRPV4

Heredopathia atactica polyneuritiformis

PEX7+del

HFE hemochromatosis, modifier of

BMP2+del+dup

Hippel-Lindau disease (VHLD)

VHL+del

Hirschsprung disease, susceptibility to, 4 (HSCR4)

EDN3

Holmes-Gang syndrome

ATRX+del+dup

Holoprosencephaly-7 (HPE7)

PTCH1+del

Holt-Oram syndrome (HOS) (HOS1)

TBX5+del+dup

Humerospinal Dysostosis, HSD

CHST3 (=C6ST1)

Hurthle cell thyroid carcinoma (HCTC)

HRAS

Hutchinson-Gilford progeria syndrome (HGPS)

LMNA+del

Hydranencephaly with abnormal genitalia

ARX+del+dup

Hydrolethalus syndrome 2

KIF7

HYP

PHEX+del+dup

Hypercalciuric rickets

SLC34A3

Hyperchylomicronemia, familial

LPL+del+dup

Hyperekplexia, hereditary 1 (HKPX1)

GLRA1+del

Hyperinsulinemic hypoglycemia, familial (HHF)

ABCC8+del, KCNJ11

Hyperinsulinism, congenital

KCNJ11

Hyperkeratosis-contracture syndrome

LMNA+del

Hyperlipemia

LPL+del+dup

Hyperlipidemia, familial combined (FCHL)

LPL+del+dup

Hyperlipoproteinemia

LPL+del+dup, APOC2+del

Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency

MAT1A

Hypernephroma

VHL+del

Hyperostosis corticalis deformans juvenilis

TNFRSF11B (=OPG)

Hyperostosis corticalis generalis

SOST

Hyperostosis with Hyperphosphatemia

FGF23

Hyperostosis, cortical, with syndactyly

SOST

Hyperostosis, endosteal, autosomal recessive

SOST

Hyperostosis-Hyperphosphatemia syndrome (HHS)

FGF23

Hyperphenylalaninemia, mild (HPA, mild)

PAH+del

Hyperphenylalaninemia, non-PKU mild (= HPA)

PAH+del

Hyperphosphatasemia tarda

SOST

Hyperphosphatasia

TNFRSF11B (=OPG)

Hypertelorism with esophageal abnormality and hypospadias

MID1+del+dup

Hypertelorism-hypospadias syndrome

MID1+del+dup

Hypertension, salt-resistant (?)

NPR3

Hyperthyroidism, familial, due to inappropriate thyrotropin secretion

THRB

Hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones

THRB

Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 (PHOAR1)

HPGD

Hypochondrogenesis

COL2A1+del

Hypochondroplasia

FGFR3

Hypoglycemia of infancy, leucine-sensitive

ABCC8+del

Hypogonadism with spermatogenesis

GNRHR

Hypogonadotropic hypogonadism with or without anosmia (HH)

KAL1, FGFR1 (= KAL2), PROKR2, PROK2, CHD7, FGF8, GNRHR, KISS1R, NSMF (= NELF), TAC3, TACR3, GNRH1, KISS1, WDR11, HS6ST1, SEMA3A, SPRY4, IL17RD, DUSP6, FGF17, FLRT3, NR5A1, PIN1

Hypophosphatasia (HOPS)

ALPL (=TNSALP)+del

Hypophosphatemia

PHEX+del+dup; FGF23

Hypophosphatemic rickets

PHEX+del+dup; FGF23

Hypophosphatemic rickets with hypercalciuria (HHRH)

SLC34A3

Hypophosphatemic Vitamin D-resistant rickets (HPDR)

PHEX+del+dup

Hypoplastic left heart syndrome 2 (HLHS2)

NKX2-5

Hyposplenia, isolated congenital

NKX2-5

Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

GLI3+del+dup

Hypothalamic hamartomas, somatic

GLI3+del+dup

Hypothyroidism, congenital nongoitrous, 5 (CHNG5)

NKX2-5

Hystrix-like ichthyosis with deafness (HID syndrome)

GJB2 (=CX26)

Krankheit

Gen

IBIDS syndrome

ERCC3 (=XPB)

I-cell disease (ICD)

GNPTAB+del+dup

Ichthyosiform erythroderma with hair abnormality and mental and growth retardation

ERCC3 (=XPB)

Ichthyosis, congenital, with trichothiodystrophy

ERCC3 (=XPB)

Idiopathic hypogonadotropic hypogonadism

KAL1, FGFR1 (= KAL2), PROKR2, PROK2, CHD7, FGF8, GNRHR, KISS1R, NSMF (= NELF), TAC3, TACR3, GNRH1, KISS1, WDR11, HS6ST1, SEMA3A, SPRY4, IL17RD, DUSP6, FGF17, FLRT3, NR5A1, PIN1

Idiopathic scoliosis 3, susceptibility to (IS3)

CHD7 (=KAL5)+del

Illig-type growth hormone deficiency

GH1+del+dup

IMAGE (Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome

CDKN1C+dup

Immunodeficiency, isolated

IKBKG (=NEMO)+del

Immunodeficiency, severe combined, with hypereosinophilia

DCLRE1C (=ARTEMIS)+del, RAG1+del, RAG2+del

Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1)

DNMT3B

Inclusion cell disease (ICD)

GNPTAB+del+dup

Incontinentia pigmenti (IP)

IKBKG (=NEMO)+del

Incontinentia pigmenti, type II, formerly (IP2, formerly)

IKBKG (=NEMO)+del

Infantile cortical hyperostosis

COL1A1+del

Infantile epileptic-dyskinetic encephalopathy

ARX+del+dup

Infantile hemiparesis

COL4A1, COL4A2

Infantile spasm syndrome, X-linked (ISSX)

ARX+del+dup, CDKL5+del+dup

Infantile systemic hyalinosis (ISH)

ANTXR2 (=CMG2)

Infiltrative fibromatosis, familial (FIF)

APC+del+dup

Insulin resistance, susceptibility to

PTPN1

Interrupted aortic arch

NKX2-5

Intervertebral disc disease (IDD), susceptibility to

COL9A2, COL9A3

Invasive pneumococcal disease, recurrent isolated, 2 (IPD2)

IKBKG (=NEMO)+del

Iridogoniodysgenesis (IRID)

PITX2+del

Iridogoniodysgenesis syndrome (IGDS)

PITX2+del

Iris hypoplasia and glaucoma

PITX2+del

Isovaleric acidemia (IVA)

IVD

Jackson-Weiss syndrome (JWS)

FGFR1+del (=KAL2), FGFR2+del

Jadassohn nevus phakomatosis (JNP)

KRAS

Jansen metaphyseal chondrodysplasia (JMC)

PTH1R (= PTHR)

Jeune syndrome

WDR34, IFT80

Joubert syndrome (JBTS)

KIF7, TCTN3

JP/HHT syndrome

SMAD4

JPS/HHT

SMAD4

Juberg-Marsidi syndrome (JMS)

ATRX+del+dup (bei Frauen)

Juvenile hyaline fibromatosis (JHF)

ANTXR2 (=CMG2)

Juvenile intestinal polyposis (JIP)

BMPR1A+del

Juvenile polyposis coli

BMPR1A+del

Juvenile polyposis of infancy

BMPR1Adel, PTEN+del

Juvenile polyposis of stomach

BMPR1A+del

Juvenile polyposis syndrome (JPS)

BMPR1A+del, SMAD4, PTEN+del

Juvenile polyposis with hereditary telangiectasia

SMAD4

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT)

SMAD4

Kallmann syndrome (-> Hypogonadotropic hypogonadism)

 

Keller syndrome

MED12

Keratitis, hereditary (KERH)

PAX6+del

Keratitis-ichthyosis-deafness syndrome (KID syndrome)

GJB2 (=CX26)

Keratoderma, palmoplantar, with deafness (PPKDFN)

GJB2 (=CX26)

Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis

WNT10A

Keratosis, seborrheic, somatic

FGFR3

Kinky hair disease

ATP7A+del+dup

Klein-Waardenburg syndrome

PAX3+del

Klippel-Feil syndrome 1, autosomal dominant (KFS1)

GDF6

Kniest dysplasia (KD)

COL2A1+del

Kowarski syndrome (KWKS)

GH1+del+dup

Krankheit

Gen

L-2-Hydroxyglutaric acidemia (L2HGA)

L2HGDH+del

L-2-Hydroxyglutaric aciduria (L2HGA)

L2HGDH+del

Lacrimoauriculodentodigital syndrome (LADDS)

FGFR3, FGF10+del, FGFR2+del

LADD syndrome (LADDS)

FGFR3, FGF10+del, FGFR2+del

Lamb syndrome

PRKAR1A+del

Langer mesomelic dysplasia (LMD)

SHOX+del

Langer-Giedion syndrome (LGS)

EXT1+del (=TRPS2), TRPS1del

Larsen syndrome (LRS), autosomal dominant

FLNB

Larsen syndrome, autosomal recessive

CHST3 (=C6ST1)

Lateral cleft, isolated

PTCH2

Lateral incisors, absence of

WNT10A

Lateral incisors, pegged or missing

WNT10A

Legg-Calve-Perthes disease (LCPD; LCP)

COL2A1+del

Leigh syndrome due to pyruvate carboxylase deficiency

PC

Leiomatosis, diffuse, with Alport syndrome (DL-ATS)

COL4A5+del

Leiomatosis, esophageal and vulval, with nephropathy

COL4A5+del

Leiomyoma, uterine, somatic (UL)

HMGA2

Lentiginosis, cardiomyopathic

PTPN11+del+dup, RAF1+dup, BRAF

Lenz microphthalmia syndrome (LMS)

BCOR+del

LEOPARD syndrome

PTPN11+del+dup, RAF1+dup, BRAF

Leri-Weill dyschondrosteosis (LWD)

SHOX+del (erst Del dann Seq)

Lethal short-limbed platyspondylic dwarfism, Torrance type

COL2A1+del

Leukemia, acute lymphoblastic (ALL)

FLI1, LHX4+del

Leukemia, acute lymphocytic

FLI1, LHX4+del

Leukemia, acute myelogenous (AML)

TRIP11, JAK2, CREBBP+del, IDH1, NSD1 (=SOTOS)+del, KIT, KRAS, EP300+del, TERT, GATA2, RUNX1, CEBPA

Leukemia, acute myeloid

TRIP11, JAK2, CREBBP+del, IDH1, NSD1 (=SOTOS)+del, KIT, KRAS, EP300+del, TERT, GATA2, RUNX1, CEBPA

Leukemia, acute T-cell lymphoblastic

NOTCH1+del, SETBP1

Leukemia, juvenile myelomonocytic (JMML)

NF1+del, PTPN11

Leukemia, megakaryoblastic, with or without Down syndrome, somatic

GATA1

Leukodystrophy, hypomyelinating, 2 (HLD2)

GJC2

Leukoencephalopathy with Axenfeld-Rieger anomaly

COL4A1, COL4A2

Levy-Hollister syndrome

FGFR3, FGF10+del, FGFR2+del

Lhermitte-Duclos syndrome (LDD)

PTEN+del

Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS)

WNT7A

Limb-mammary syndrome (LMS)

TP63 (=p63)

Linear sebaceous nevus syndrome

KRAS

Lipase D deficiency

LPL+del+dup

Lipoamide dehydrogenase deficiency, lactic acidosis due to

DLD (=LAD)

Lipoatrophic diabetes

LMNA+del, BSCL2+del

Lipocalcinogranulomatosis

FGF23

Lipodystrophy, Berardinelli-Seip congenital

BSCL2+del, CAV1, PTRF

Lipodystrophy, cephalothoracic type

LMNB2

Lipodystrophy, congenital generalized (CGL)

AGPAT2+del, BSCL2+del, CAV1, PTRF

Lipodystrophy, familial partial, Dunnigan type

LMNA+del

Lipodystrophy, familial partial, type 2 (FPLD2) (FPL2)

LMNA+del

Lipodystrophy, familial, of limbs and lower trunk

LMNA+del

Lipodystrophy, partial, acquired, susceptibility to (APLD) (APLD), susceptibility to

LMNB2

Lipodystrophy, partial, progressive

LMNB2

Lipodystrophy, reverse partial

LMNA+del

Lipodystrophy, total, and acromegaloid gigantism

BSCL2+del

Lipodystrophy, type A, associated with mandibuloacral dysplasia

LMNA+del

Lipoma (LIPO)

HMGA2

Lipomatosis of pancreas, congenital

SBDS+del

Lipomatosis, familial multiple (FML)

HMGA2

Lipomatosis, multiple

HMGA2

Lipoprotein lipase deficiency

LPL+del+dup

Lip-pit syndrome (LPS=PIT)

IRF6+del

Lissencephaly, X-linked 2 (LISX2)

ARX+del+dup

Lissencephaly, X-linked, with ambiguous genitalia (XLAG) (XLISG)

ARX+del+dup

Lobular carcinoma in situ (LCIS)

MLH1+del

Loeys-Dietz syndrome (LDS)

TGFBR1+dup, TGFBR2, SMAD3, TGFB2+del

Low-birth-weight dwarfism with skeletal dysplasia

RNU4ATAC

LPL deficiency

LPL+del+dup

Lujan-Fryns syndrome

MED12

Lumbar disc herniation (LDH), susceptibility to

COL11A1+del, MMP9

Lung cancer

TP63 (=p63)

Lung cancer susceptibility 2 (LNCR2)

CHRNA3

Lung cancer, non-small cell (NSCLC)

STK11

Lung cancer, somatic

KRAS

Lymphangioleiomyomatosis (LAM) (Lymphangiomatosis)

TSC1+del, TSC2+del

Lymphedema and yellow nails (LYYN)

FOXC2+del

Lymphedema with distichiasis (LYD)

FOXC2+del

Lymphedema, hereditary (LMPH)

GJC2, FOXC2+del

Lymphedema-distichiasis syndrome (LYDS)

FOXC2+del

Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus

FOXC2+del

Lynch syndome

MSH2+del, MLH1+del, PMS2+del, MSH6+del, TGFBR2+del, MLH3

Lysosomal glycogen storage disease without acid maltase deficiency, formerly

LAMP2+del

Krankheit

Gen

Macrocephaly/autism syndrome (MCEPHAS)

PTEN+del

Macrostomia, isolated

PTCH2

Maffucci syndrome (= Enchondromatosis, multiple, Maffucci type)

IDH1, IDH2

Majeed syndrome (MAJEEDS)

LPIN2

Male germ cell tumor (MGCT)

KIT

Male Turner snydrome

PTPN11+dup

Malignant rhabdoid tumor, somatic (MRT)

SMARCB1 (=INI1)+del

Malouf syndrome

LMNA+del

Mandibuloacral dysplasia with type A lipodystrophy (MADA)

LMNA+del

Mandibuloacral dysplasia with type A lipodystrophy, atypical

LMNA+del

Mandibulofacial dysostosis (MFD1)

TCOF1+del

Maple syrup urine disease, type III

DLD (=LAD)

Marfan syndrome (MFS)

FBN1+del

Marfan syndrome, atypical

COL1A2+del

Marfanoid craniosynostosis syndrome

SKI

Marfanoid disorder with craniosynostosis, type I

SKI

Marshall syndrome (MARSHS)

COL11A1+del

Marshall-Smith syndrome (MSS)

NFIX

MASS syndrome

FBN1+del

Mast cell disease

KIT

Mastocytosis

KIT

Meacham syndrome (MEACHS)

WT1+del

MECP2 duplication syndrome

MECP2+del

Medium chain Acyl-CoA dehydrogenase deficiency (MCAD)

ACADM (=MCAD)+del

Medulloblastoma (MDB)

CTNNB1

Medulloblastoma (MDB), somatic

APC+del+dup, PTCH1+del, PTCH2

Medulloblastoma with extensive nodularity (MBEN)

SUFU+del

Medulloblastoma, desmoplastic (MDB, desmoplastic)

SUFU+del

Meige disease

FOXC2+del

Meige lymphedema

FOXC2+del

Melanoma, cutaneous malignant, 9

TERT

Melanoma, desmoplastic neurotrophic (DNM)

NF1+del

Melanoma, malignant sporadic

STK11

Melanoma, malignant, somatic

BRAF, PTEN+del

Meningioma

PTEN+del

Menkes disease (MK) (MNK)

ATP7A+del+dup

Menkes syndrome

ATP7A+del+dup

Mental retardation and muscular atrophy

SLC16A2 (=MCT8)+del

Mental retardation, autosomal dominant 20 (MRD20)

MEF2C

Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum

MED12

Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations

MEF2C

Mental retardation, X-linked 19 (MRX19)

RPS6KA3 (= RSK2) +del+dup

Mental retardation, X-linked 29/32/33/38/43/54/76/87

ARX+del+dup

Mental retardation, X-linked 36 (MRX36)

ARX+del+dup

Mental retardation, X-linked syndromic 1 (MRXS1)

ARX+del+dup

Mental retardation, X-linked syndromic 13 (MRXS13)

MECP2+del

Mental retardation, X-linked syndromic 16 (MRXS16)

FGD1+del

Mental retardation, X-linked syndromic, Lubs type (MRXSL)

MECP2+del

Mental retardation, X-linked, with creatine transporter deficiency

SLC6A8+del

Mental retardation, X-linked, with dystonic movements, ataxia, and seizures

ARX+del+dup

Mental retardation, X-linked, with growth retardation, deafness, and microgenitalism

ATRX+del+dup

Mental retardation, X-linked, with hypotonia

SLC16A2 (=MCT8)+del

Mental retardation, X-linked, with marfanoid habitus

MED12

Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX)

ARX+del+dup

Mental retardation, X-linked, with seizures, short stature, and midface hypoplasia

SLC6A8+del

Mental retardation-hypotonic facies syndrome, X-linked (MRXHF1)

ATRX+del+dup

Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type

SHOX+del

Mesothelioma, malignant; susceptibility to (MESOM)

CTNNB1

Mesothelioma, somatic (MESOM)

WT1+del

Metachondromatosis (METCDS)

PTPN11+del+dup

Metaphyseal anadysplasia (MANDP)

MMP13, MMP9

Metaphyseal chondrodysplasia, Jansen type

PTH1R (= PTHR)

Metaphyseal chondrodysplasia, McKusick type

RMRP

Metaphyseal chondrodysplasia, Murk Jansen type

PTH1R (= PTHR)

Metaphyseal chondrodysplasia, Schmid type (MCDS)

COL10A1

Metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA)

IDH1, IDH2

Metaphyseal dysplasia without hypotrichosis

RMRP

Metatropic dwarfism (MD)

TRPV4

Metatropic dysplasia (MTD)

TRPV4

Methionine adenosyltransferase (MAT) deficiency, autosomal recessive

MAT1A

Methylmalonic acidemia and homocystinuria, cblC type

MMACHC

Methylmalonic aciduria and homocystinuria, cblC type

MMACHC

Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive

MMACHC

Microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) (MOPD I) (MOPD)

RNU4ATAC

Microcephalic osteodysplastic primordial dwarfism, type II (MOPD2)

PCNT (=MOPD2)+del

Microphthalmia

VAX1

Microphthalmia and cataract 2

SIX6

Microphthalmia and esophageal atresia syndrome

SOX2+del

Microphthalmia with brain and digital anomalies

BMP4

Microphthalmia, cataract, and nystagmus

SIX6

Microphthalmia, isolated 4 (MCOP4)

GDF6

Microphthalmia, isolated, with cataract 2 (MCOPCT2)

SIX6

Microphthalmia, isolated, with coloboma 6, digenic (MCOPCB6)

GDF6

Microphthalmia, syndromic (MCOPS)

BCOR+del, SOX2+del, OTX2+del, BMP4

Microvascular complications of diabetes, susceptibility to, 1 (MVCD1)

VEGFA

Mismatch repair cancer syndrome (MMRCS)

MLH1+del, MSH2+del, MSH6+del, PMS2+del

Mohr-Majewski syndrome

TCTN3

Mohr-Wriedt type brachydactyly

GDF5 (=CDMP1), BMP2+del+dup, BMPR1B

Monocarboxylate transporter 8 (MCT8) deficiency

SLC16A2 (=MCT8)+del

Monocytopenia and mycobacterial infection syndrome (MONOMAC)

GATA2

Monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia

GATA2

MonoMAC (monocytopenia, NK- and B- lymphocytopenia, severe infections with M. avium complex (MAC), and risk of progression to MDS/AML) (GATA2 deficiency)

GATA2

Morbus Teutschlaender

FGF23

Morning glory disc anomaly

PAX6+del

Morquio A syndrome

GALNS+del

Morquio syndrome B

GLB1+del+dup

Motor and sensory neuropathy, hereditary, 4 (HMSN4)

PEX7+del

Mowat-Wilson syndrome (MWIS)

ZEB2+del

Moyamoya disease 5 (MYMY5)

ACTA2

Muckle-Wells syndrome (MWS)

NLRP3 (=NALP3)

Mucolipidosis II alpha/beta (ML II)

GNPTAB+del+dup

Mucolipidosis III alpha/beta (ML III)

GNPTAB+del+dup

Mucopolysaccharidosis type 4A (MPS4A)

GALNS+del

Mucopolysaccharidosis type IVB (MPS IVB) (MPS4B)

GLB1+del+dup

Muenke syndrome

FGFR3

Muir-Torre syndrome (MRTES)

MLH1+del, MSH2+del

Mullerian aplasia and hyperandrogenism (MULLAPL)

WNT4

Mullerian duct failure and hyperandrogenism

WNT4

Multicentric carpotarsal osteolysis syndrome (MCTO)

MAFB

Multicentric osteolysis, autosomal dominant

MAFB

Multicentric osteolysis, nodulosis, and arthropathy (MONA)

MMP14, MMP2

Multiple acyl-CoA dehydrogenase deficiency (MADD)

ETFDH, ETFA, ETFB

Multiple basal cell nevi, odonogenic keratocysts, and skeletal anomalies

PTCH1+del

Multiple hamartoma syndrome (MHAM)

PTEN+del

Multiple lentigines syndrome

PTPN11+del+dup, RAF1+dup, BRAF

Multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness (LEOPARD)

PTPN11+del+dup, RAF1+dup, BRAF

Multiple myeloma (MM)

FGFR3

Multiple self-healing squamous epithelioma, susceptiblity to (MSSE)

TGFBR1+dup

Multiple synostoses syndrome (SYNS)

NOG, GDF5 (=CDMP1), FGF9

Multisystem inflammatory disease, neonatal onset (NOMID)

NLRP3 (=NALP3)

Multisystemic smooth muscle dysfunction syndrome

ACTA2

Muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant

LMNA+del

Muscular dystrophy, congenital, LMNA-related (MDCL)

LMNA+del

Muscular dystrophy, limb-girdle, type 1B (LGMD1B)

LMNA+del

Muscular dystrophy, proximal, type 1B

LMNA+del

Mycobacterial disease, susceptibility to, X-linked, type 1

IKBKG (=NEMO)+del

Myelodysplastic syndrome, susceptibility to

GATA2

Myelofibrosis with myeloid metaplasia, somatic (MMM)

MLP (=C-MLP)

Myelofibrosis, somatic

JAK2

Myelokathexis, isolated

CXCR4

Myhre syndrome (MYHRS)

SMAD4

Myopathy, congenital, with excess of muscle spindles (CMEMS)

HRAS

Myxoma, intracardiac (INTMYX)

PRKAR1A+del

Myxoma, spotty pigmentation, and endocrine overactivity

PRKAR1A+del

Krankheit

Gen

Naegeli syndrome

KRT14

Naegeli-Franceschetti-Jadassohn syndrome (NFJS)

KRT14

Nail-patella syndrome (NPS)

LMX1B+del

Nail-patella syndrome with primary open angle glaucoma (POAG)

LMX1B+del

Najjar syndrome

LMNA+del

Name syndrome

PRKAR1A+del

Nance-Insley syndrome

COL2A1+del, COL11A2

Nance-Sweeney chondrodysplasia

COL2A1+del, COL11A2

Navajo brainstem syndrome

HOXA1

Neck cancer

TP63 (=p63)

Nemaline myopathy 4 (NEM4)

TPM2

Nephroblastoma

WT1+del

Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1)

SLC34A1

Nephropathy, Wilms tumor, and genital anomalities

WT1+del

Nephrotic syndrome, type 4 (NPHS4)

WT1+del

Nesidioblastosis

KCNJ11

Netherton disease

SPINK5

Netherton syndrome (NETH) (NS)

SPINK5

Neurilemmomatosis, congenital cutaneous

SMARCB1 (=INI1)+del

Neurofibromatosis

NF1+del, SMARCB1 (=INI1)+del

Neurofibromatosis, type I, with leukemia (DD zu MMRCS)

MSH2+del

Neurofibromatosis-Noonan syndrome (NFNS)

NF1+del

Neuronopathy, distal hereditary motor, type V (HMN5)

BSCL2+del

Neuronopathy, distal hereditary motor, type VA (HMN5A) (HMN VA)

BSCL2+del

Neuropathy, distal hereditary motor, type VA (DHMN5A) (DHMN VA)

BSCL2+del

Neuropathy, hereditary sensory, type ID (HSN1D)

ATL1+del

Nevo syndrome

PLOD1+del+dup

Nevoid basal cell carcinoma syndrome (NBCCS)

PTCH1+del

Nevus sebaceous of Jadassohn

KRAS

Nevus, keratinocytic, nonepidermolytic (KNEN)

FGFR3

Nodulosis-arthropathy-osteolysis (NAO) syndrome

MMP14, MMP2

Nonproliferative retinopathy, diabetic, susceptibility to

VEGFA

Nonsmall cell lung cancer, somatic

BRAF

Noonan syndrome

PTPN11+dup, RAF1+del+dup, SOS1, RIT1, KRAS, MAP2K1, BRAF

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSL)

CBL

Noonan-Neurofibromatosis syndrome

NF1+del

Obesity, adrenal insufficiency, and red hair

POMC

Obesity, autosomal dominant (OBESITY)

MC4R

Obesity, early-onset, susceptibility to

POMC

Obesity, morbide

CEP19

Occipital horn syndrome (OHS)

ATP7A+del+dup

Ocular coloboma

GDF6

Oculoauriculovertebral dysplasia (OAVD)

TCOF1+del

Oculoauriculovertebral spectrum (OAVS)

TCOF1+del

Oculofaciocardiodental (OFCD) syndrome

BCOR+del

O'Donnell-Papas syndrome

PAX6+del

Odontochondrodysplasia

N.N.

Odontohypophosphatasia

ALPL (=TNSALP)+del

Odontoonychodermal dysplasia (OODD)

WNT10A

OFD syndrome

TCTN3

Ohdo syndrome, X-linked (OHDOX)

MED12

Ohtahara syndrome, X-linked

ARX+del+dup

Oligodendroglioma

PTEN+del

Ollier disease

IDH1, IDH2, PTH1R (= PTHR)

Omenn syndrome (OS)

DCLRE1C (=ARTEMIS)+del, RAG1+del, RAG2+del

Ommunodeficiency NEMO-related without anhidrotic ectodermal dysplasia (NEMOID)

IKBKG (=NEMO)+del

Ondine curse

EDN3

Onychoosteodysplasia

LMX1B+del

Opitz BBBG syndrome, type 1 (BBBG1)

MID1+del+dup

Opitz GBBB syndrome, type I (GGGB1)

MID1+del+dup

Opitz GBBB syndrome, X-linked

MID1+del+dup

Opitz syndrome (OS)

MID1+del+dup

Opitz syndrome, X-linked (OSX)

MID1+del+dup

Opitz trigonocephaly syndrome

CD96

Opitz trigonocephaly-like syndrome

CD96

Opitz-G syndrome, type 1 (OGS1)

MID1+del+dup

Opitz-Kaveggia syndrome (OKS)

MED12

Optic nerve aplasia, bilateral (BONA)

PAX6+del

Optic nerve coloboma with renal disease

PAX2+del

Optic nerve head pits, bilateral, congenital

PAX6+del

Optic nerve hypoplasia and abnormalities of the central nervous system

SOX2+del

Optic nerve hypoplasia, bilateral (BONH)

PAX6+del

Oral-facial-digital syndrome, type IV

TCTN3

Organoid nevus phakomatosis

KRAS

Orofacial cleft 6, susceptibility to (OFC6)

IRF6+del, TP63 (=p63), BMP4

Orofaciodigital syndrome IV (OFD4) (OFDS IV)

TCTN3

OSMED, heterozygous (WZS)

COL11A2

Osteoarthritis of distal interphalangeal joints (OADIP)

MATN3

Osteoarthritis with mild chondrodysplasia (OACD)

COL2A1+del

Osteoarthritis, familial early-onset (FOA), susceptibility to

IDH1

Osteoarthritis, hand, (HOA)

MATN3

Osteoarthritis, susceptibility (OS)

GDF5 (=CDMP1), MATN3

Osteochondritis dissecans, short stature, and early-onset osteoarthritis (OD)

ACAN

Osteochondromas, multiple

EXT1+del (=TRPS2), EXT2+del

Osteochondromatosis

IDH1, IDH2, PTH1R (= PTHR)

Osteodysplastic primordial dwarfism, type I

RNU4ATAC

Osteodysplastic primordial dwarfism, type II

PCNT (=MOPD2)+del

Osteoectasia, familial

TNFRSF11B (=OPG)

Osteogenesis imperfecta (OI), autosomal recessive

SERPINF1, CRTAP, LEPRE1+del, PPIB, SERPINH1, FKBP10, SP7, BMP1, TMEM38B+del, WNT1, CREB3L1, PLOD2

Osteogenesis imperfecta (OI), autsomal dominant

COL1A1+del, COL1A2+del, IFITM5

Osteogenesis imperfecta with congenital joint contractures

PLOD2

Osteoglophonic dysplasia (OGD)

FGFR1+del (=KAL2)

Osteolysis, hereditary multicentric

MMP14, MMP2

Osteolysis, hereditary, of carpal bones with or without nephropathy

MAFB

Osteomalacia, tumor-induced

FGF23

Osteonecrosis of femoral head

COL2A1+del

Osteoporosis, postmenopausal

COL1A2+del

Osteoporosis, susceptibility to (OSTEOP)

COL1A1+del

Otospondylomegaepiphyseal dysplasia (OSMED)

COL2A1+del, COL11A2

Ovarian cancer (OC)

TP63 (= p63), CTNNB1

Ovarian cancer, endometrioid type

MSH6+del

Ovarian cancer, somatic (OC)

AKT1

Overlap connective tissue disease (OCTD)

FBN1+del

Ovotesticular disorder of sex development

SRY

Ovotesticular DSD

SRY

Oxycephaly

TWIST1+del

Krankheit

Gen

Pachydermoperiostosis (PDP), autosomal recessive

HPGD

Paget disease, juvenile (JPD)

TNFRSF11B (=OPG)

PAH deficiency

PAH+del

Pallister-Hall syndrome (PHS)

GLI3+del+dup

Pancreatic cancer (PNCA)

SMAD4

Pancreatic cancer, somatic (= Pancreatic carcinoma)

KRAS

Pancreatic cancer, sporadic

STK11

Pancreatic insufficiency and bone marrow dysfunction

SBDS+del

Pancreatitis, chronic

PRSS1

Pancreatitis, hereditary (PCTT) (HPC) (HP)

PRSS1

Panhypopituitarism

PROP1+del

Papillorenal syndrome

PAX2+del

Parastremmatic dwarfism (PSTD)

TRPV4

Parietal foramina 1 (PFM1)

MSX2+del, ALX4

Paris-Trousseau thrombocytopenia (TCPT)

FLI1

Partington syndrome

ARX+del+dup

Partington X-linked mental retardation syndrome (PRTS)

ARX+del+dup

PC deficiency

PC

Pearson

long range PCRs an mitochondrialer DNA

Pelizaeus-Merzenbacher-like disease, 1 (PMLD1)

GJC2

Pelviscapular dysplasia

TBX15

Pendred syndrome (PDS)

FOXI1

Perrault syndrome (PRS)

HSD17B4+del (= DBP)

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI)

KCNJ11

Persistent truncus arteriosus (PTA)

NKX2-5

Peters anomaly (PAN)

PAX6+del, PITX2+del

Peters-plus syndrome (PpS)

B3GALTL+del

Peutz-Jeghers syndrome (PJS)

STK11+del

Pfeiffer syndrome (PS)

FGFR1+del (=KAL2), FGFR2+del

Phenylketonuria (PKU)

PAH+del

Pheochromocytoma

VHL+del

PHO, autosomal recessive

HPGD

Phytanic acid oxidase deficiency

PEX7+del

Piebald trait (PBT)

KIT+del, SNAI2+del

Piebaldism

KIT+del, SNAI2+del

Pigmented micronodular adrenocortical disease, primary, 1

PRKAR1A+del

Pigmented nodular adrenocortical disease, primary, 1 (PPNAD1)

PRKAR1A+del

Pilomatricoma (PTR)

CTNNB1

Pitt-Hopkins-like syndrome 2 (PTHSL2)

NRXN1+del

Pituitary dwarfism

GH1+del+dup, PROP1+del

Pituitary hormone deficiency, combined (CPHD)

POU1F1+del, PROP1+del, LHX3+del, LHX4+del, HESX1+del, OTX2+del

Pituitary hormone deficiency, combined, with rigid cervical spine or sensorineural deafness with pituitary dwarfism

LHX3+del

Platelet disorder, familial, with associated myeloid malignancy (FPDMM)

RUNX1

Platyspondylic lethal skeletal dysplasia Sand Diego type (PLSD-SD)

FGFR3

Platyspondylic lethal skeletal dysplasia, Luton type (PLSD-L)

COL2A1+del

Platyspondylic skeletal dysplasia, Torrance type (PLSD-T)

COL2A1+del

Poikiloderma with neutropenia (PN)

USB1 (= C16orf57)

Poikiloderma with neutropenia, Clericuzio-type

USB1 (= C16orf57)

Polycythemia rubra vera (PRV)

JAK2

Polycythemia vera (PV)

JAK2

Polycythemia, Chuvash type

VHL+del

Polycythemia, VHL-dependent

VHL+del

Polydactyly with neonatal chondrodystrophy, type III

WDR34

Polydactyly, postaxial and preaxial

GLI3+del+dup

Polyposis syndrome, hereditary mixed, 2 (HMPS2)

BMPR1A+del

Polyposis, familial, of enire gastrointestinal tract

BMPR1A+del, SMAD4

Polyposis, generalized juvenile, with pulmonary arteriovenous malformation

SMAD4

Polyposis, hamartomatous intestinal

STK11+del

Polyposis, juvenile intestinal (PJI)

BMPR1A+del, SMAD4

Polyps-and-spots syndrome

STK11+del

Polysyndactyly with peculiar skull shape

GLI3+del+dup

Polysyndactyly, uncomplicated

GLI3+del+dup

Popliteal pterygium syndrome 1 (PPS)

IRF6+del

POR deficiency

POR+del

Porencephaly, familial (PCEPH)

COL4A1

Porencephaly, type 1, autosomal dominant (ADT1P)

COL4A1

Postaxial polydactyly, type A (PAPA)

GLI3+del+dup

Posterior openbite, familial

PTH1R (= PTHR)

Potocki-Shaffer syndrome (PSS)

EXT2+del, ALX4

Prader-Willi syndrome (PWS)

Deletions-/Duplikations- und Methylierungsanalyse der PWS-kritischen Region in 15q11-q13 (insbesondere SNRPN-Gen)

Precocious puberty, central

KISS1R

Premature ovarian failure

FOXL2+del+dup, NR5A1

Preterm premature rupture of the membranes, susceptibility to (PPROM)

SERPINH1

Primary failure of eruption, nonsyndromic

PTH1R (= PTHR)

Primary retention of teeth

PTH1R (= PTHR)

Primordial dwarfism

GH1+del+dup

Progeria

LMNA+del

Progeria syndrome, childhood onset

LMNA+del

Progressive pseudorheumatoid dysplasia (PPD)

WISP3

Progressive pseudorheumatoid dysplasia with hypoplastic toes

COL2A1+del

Proliferative retinopathy, diabetic, susceptibility to

VEGFA

Proopiomelanocortin deficiency

POMC

Prostate cancer, somatic (PC)

PTEN+del

Proteus syndrome (PROTEUSS)

AKT1, PTEN+del

Proteus-like syndrome

PTEN+del

Proud syndrome

ARX+del+dup

Proximal 11p Deletion Syndrome (P11pDS)

EXT2+del, ALX4

Pseudoachondroplasia (PSACH)

COMP+del, COL9A3

Pseudoglycogenosis II

LAMP2+del

Pseudo-Hurler polydystrophy

GNPTAB+del+dup

Pseudo-Morquio syndrome, type 2

TRPV4

Pseudorheumatoid dysplasia, progressive (PPD)

WISP3

Pseudorheumatoid dysplasia, progressive, with hypoplastic toes

COL2A1+del

Pseudoxanthoma elasticum (PXE), modifier of severity of

XYLT1

PTEN hamartoma tumor syndrome (PHTS) (includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome)

PTEN+del

Pterygium colli syndrome

PTPN11

Pulmonary fibrosis, idiopathic, susceptibility to (IPF)

TERC+del,TERT+del

Pulmonary fibrosis, telomere-related, 1

TERT

Pulmonary hypertension, primary, 3 (PPH3)

CAV1

Pulmonic stenosis with cafe-au-lait spots

NF1+del

Puretic Syndrome

ANTXR2 (=CMG2)

Pycnodysostosis (PKND)

CTSK

Pyruvate carboxylase (PC) deficiency

PC

Krankheit

Gen

Radioulnar synostosis with amegakaryocytic thrombocytopenia

HOXA11

Rapp-Hodgkin syndrome (RHS)

TP63 (=p63)

Rear syndrome

SALL1+del

Refetoff syndrome

THRB

Refsum disease, adult (RDA) / classic

PEX7+del

Renal cell carcinoma, somatic (RCC)

VHL+del

Renal glucosuria (GLYS1)

SLC5A2+del

Renal hypoplasia, isolated

PAX2+del

Renal-coloboma syndrome

PAX2+del

Renal-ear-anal-radial syndrome

SALL1+del

Restrictive dermopathy, lethal

LMNA+del

Reticuloendotheliosis, familial, with eosinophilia

DCLRE1C (=ARTEMIS)+del, RAG1+del, RAG2+del

Retinal arteriolar tortuosity, infantile

COL4A1, COL4A2

Retinal detachment, rhegmatogenous, autosomal dominant (DRRD)

COL2A1+del

Retinal dystrophy, early-onset, and pituitary dysfunction

OTX2+del

Retinopathy, exudative. with bone marrow failure (ERBMF)

TINF2

Rett syndrome (RTT; RTS)

MECP2+del

Rett syndrome, atypical, CDKL5-related

CDKL5+del+dup, FOXG1+del

Revesz syndrome

TINF2

Rhabdoid predisposition syndrome 1 (RPS1)

SMARCB1 (=INI1)+del

Rhabdoid tumor (RDT)

SMARCB1 (=INI1)+del

Rhabdoid tumor predisposition syndrome (RTPS)

SMARCB1 (=INI1)+del, SMARCA4

Rhabdomyosarcoma 2 (RMS2)

PAX3+del

Rhabdomyosarcoma, alveolar (RMSA)

PAX3+del

Rhegmatogenous retinal detachment, autosomal dominant (DRRD)

COL2A1+del

Rhizomelic chondrodysplasia punctata, type 1 (RCDP1)

PEX7+del

Riley-Smith syndrome

PTEN+del

Ring dermoid of cornea (RDC)

PITX2+del

Rubinstein-Taybi syndrome (RSTS)

CREBBP+del, EP300+del

Ruvalcaba-Myhre-Smith syndrome (RMSS)

PTEN+del

Krankheit

Gen

Saethre-Chotzen syndrome (SCS)

FGFR2+del, TWIST1+del

Saethre-Chotzen syndrome with eyelid anomalies

TWIST1+del

Scalp-ear-nipple syndrome (SENS)

KCTD1

Scaphocephaly

TWIST1+del

Scaphocephaly and Axenfeld-Rieger anomaly

FGFR2+del

Scaphocephaly syndrome, familial (FSPC)

FGFR2+del

Scaphocephaly, maxillary retrusion, and mental retardation

FGFR2+del

Scapuloilioperoneal atrophy with cardiopathy

LMNA+del

Scapuloperoneal spinal muscular atrophy (SPSMA)

TRPV4

Schimmelpfennig-Feuerstein-Mims syndrome (SFM), somatic mosaic

KRAS

Schinzel phocomelia syndrome

WNT7A

Schinzel-Giedion midface retraction syndrome (SGS)

SETBP1

Schizophrenia, susceptibility to

AKT1, NRXN1del

Schmid-type metaphyseal chondrodysplasia (SMCD)

COL10A1

Schöpf-Schulz-Passarge syndrome (SSPS)

WNT10A

Schwannomatosis

SMARCB1 (=INI1)+del

Schwartz-Jampel syndrome (SJS)

HSPG2+del, LIFR

Sclerosteosis 1 (SOST1) (SOST)

SOST

Scoliosis, congenital, with unilateral unsegmented bar

FLNB

Sebaceous nevus syndrome, linear

KRAS

Seckel syndrome

PCNT (=MOPD2)+del

SED congenita

COL2A1+del

SED tarda, X-linked

TRAPPC2 (= SEDLIN)+del

SED, Maroteaux type

TRPV4

SED, Namaqualand type

COL2A1+del

Seip syndrome

BSCL2+del

SEN syndrome

KCTD1

Sensenbrenner syndrome

IFT122, WDR35+del, IFT43

Septooptic dysplasia

HESX1+del

SERKAL syndrome

WNT4

severe combined immunodeficiency Athabaskan-type (SCIDA)

DCLRE1C (= ARTEMIS)+del

severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID)

DCLRE1C (= ARTEMIS)+del

Severe combined immunodeficiency, autosomal recessive, T-cell-negative, B-cell-negative, NK-cell-positive (T-B-NK+ SCID)

RAG1+del, RAG2+del

Severe combined immunodeficiency, B cell-negative (= B- SCID)

RAG1+del, RAG2+del

Sex reversal, XY, with or without adrenal failure

NR5A1

Sex-reversing locus on X (SRVX), formerly)

SRY

Sexual ateleiotic dwarfism

GH1+del+dup

SFM syndrome

KRAS

Sheldon-Hall syndrome (SHS)

TNNT3, TNNI2, MYH3, TPM2

Short rib-polydactyly syndrome (SRPS)

DYNC2H1, WDR34, WDR35+del, WDR60

Short stature syndrome, autosomal recessive, with intellectual disability

XYLT1

Short stature, idiopathic, X-linked (ISS)

SHOX+del

Short stature, pituitary and cerebellar defects, and small sella turcica

LHX4+del

Shprintzen-Goldberg craniosynostosis syndrome (SGS)

SKI

Shwachman-Bodian syndrome (SBS)

SBDS+del

Shwachman-Bodian-Diamond syndrome (SBDS)

SBDS+del

Shwachman-Diamond syndrome (SDS)

SBDS+del

Silver snydrome

BSCL2+del

Silver spastic paraplegia syndrome

BSCL2+del

Silver-Russel syndrome

Deletions-/Duplikations- und Methylierungsanalyse der differentiell methylierten Regionen KvDMR (u.a. KCNQ1-Gen) und H19DMR (u.a. H19-Gen) sowie des CDKN1C-Gens in der SRS-kritischen Region in 11p15; maternal uniparental disomy of chromosome 7; CDKN1C-Seq

Simpson dysmorphia syndrome (SDYS)

GPC3+del, GPC4del+dup

Simpson-Golabi-Behmel syndrome, type 1 (SGBS1) (SGBS)

GPC3+del, GPC4del+dup

SMD, Kozlowski type

TRPV4

Smith-Fineman-Myers syndrome type 1 (SFM1)

ATRX+del+dup

Smith-Lemli-Opitz syndrome (SLOS)

DHCR7+del

Smith-McCort dysplasia (SMC)

DYM+dup

Sotos syndrome (SOTOSS)

NSD1 (=SOTOS)+del, NFIX

Spastic paraplegia with amyotrophy of hands and feet

BSCL2+del

Spastic paraplegia, autosomal dominant (SPG)

ATL1+del, SPAST, BSCL2+del

Spastic paraplegia, autosomal recessive (SPG)

CYP7B1, SPG7 (=PGN)+del, GJC2

Spermatocytic seminoma, somatic

FGFR3

Spermatogenic failure 8 (SPGF8)

NR5A1

Spinal muscular atrophy, congenital

TRPV4

Spinal muscular atrophy, distal (DSMA)

BSCL2+del, TRPV4

Spinal muscular atrophy, distal, X-linked (SMAX)

ATP7A+del+dup

Splenic hypoplasia

NKX2-5

Split-hand/foot malformation (SHFM)

TP63 (=p63), WNT10B

Spondylism, congenital

FLNB

Spondylocarpotarsal syndrome

FLNB

Spondylocarpotarsal synostosis syndrome (SCT)

FLNB

Spondylocostal dysostosis, autosomal dominant (SCDO)

TBX6+dup

Spondylocostal dysostosis, autosomal recessive (SCDO)

DLL3, MESP2, LFNG, HES7

Spondylodysplasia and premature pubarche

PAPSS2

Spondyloenchondrodysplasia with D-2-hydroxyglutaric aciduria

 

IDH1, IDH2

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)

ACP5

Spondyloepimetaphyseal dysplasia (SEDM), aggrecan type

ACAN

Spondyloepimetaphyseal dysplasia (SEMD)

MATN3

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)

B3GALT6, KIF22

Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type

KIF22

Spondyloepimetaphyseal dysplasia, Missouri type (SEMD-MO)

MMP13

Spondyloepimetaphyseal dysplasia, Pakistani type (SEMD, PA)

PAPSS2

Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-STR)

COL2A1+del

Spondyloepiphyseal dysplasia congenita (SEDC)

COL2A1+del

Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA)

WISP3

Spondyloepiphyseal dysplasia tarda, X-linked (SEDT)

TRAPPC2 (= SEDLIN)+del

Spondyloepiphyseal dysplasia with congenital joint dislocations

CHST3 (=C6ST1)

Spondyloepiphyseal dysplasia with precocious osteoarthritis

COL2A1+del

Spondyloepiphyseal dysplasia, congenital type

COL2A1+del

Spondyloepiphyseal dysplasia, Kimberley type (SEDK)

ACAN

Spondyloepiphyseal dysplasia, late

TRAPPC2 (= SEDLIN)+del

Spondyloepiphyseal dysplasia, Maroteaux type (SEDM)

TRPV4

Spondyloepiphyseal dysplasia, Omani type

CHST3 (=C6ST1)

Spondylohumerofemoral hypoplasia

FLNB

Spondylometaepiphyseal dysplasia, anauxetic type

RMRP, POP1

Spondylometaepiphyseal dysplasia, Menger type

RMRP, POP1

Spondylometaphyseal chondrodysplasia, japanese type (SMD)

COL10A1

Spondylometaphyseal dysplasia (SMD)

COL2A1+del

Spondylometaphyseal dysplasia with dentinogenesis imperfecta

N.N.

Spondylometaphyseal dysplasia, Kozlowski type (SMDK)

TRPV4

Spondyloperipheral dysplasia (SPD)

COL2A1+del

Squamous cell carcinoma, head and neck, somatic (HNSCC)

PTEN+del

St. Helena dysplasia

NPR2

Stapes ankylosis with broad thumb and toes (SABTS)

NOG

Steely hair disease

ATP7A+del+dup

Stickler sydrome

COL2A1+del, COL11A1+del, COL11A2, COL9A1, COL9A2

Stickler syndrome, atypical

COL2A1+del

Stickler syndrome, vitreous type

COL2A1+del, COL11A1+del

Stiff skin syndrome (SSKS)

FBN1+del

Strudwick syndrome

COL2A1+del

Strumpell disease

ATL1+del

Strumpell-Lorrain syndrome

ATL1+del

Stub thumb

HOXD13+del

Stueve-Wiedemann syndrome (SWS)

LIFR

Succedaneous teeth, agenesis of

WNT10A

Sugio-Kajii syndrome

TRPS1+del

Supravalvar aortic stenosis (SVAS)

ELN+del

Supravalvar aortic stenosis, Eisenberg type

ELN+del

Swyer syndrome

SRY

Symphalangism, proximal (SYM)

GDF5 (=CDMP1), NOG

Symphalangism-brachydactyly syndrome

NOG

Syndactyly with metacarpal and metatarsal fusion

HOXD13+del

Syndactyly, type 2 (SDTY2)

HOXD13+del

Syndactyly, type V (SDTY5)

HOXD13+del

Synostoses, multiple, with brachydactyly

NOG

Synostosis of talus and calcaneus with short stature

NOG

Synpolydactyly 1 (SPD1)

HOXD13+del

Synpolydactyly with foot anomalies

HOXD13+del

Systemic juvenile hyalinosis

ANTXR2 (=CMG2)

Krankheit

Gen

T3 resistance

SLC16A2 (=MCT8)+del

Tarsal-carpal coalition syndrome (TCC)

NOG

Tay syndrome

ERCC3 (=XPB)

Taybi-Linder syndrome (TALS)

RNU4ATAC

Telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli

SMAD4

Telecanthus-hypospadias syndrome

MID1+del+dup

Temple-Syndrom (maternale uniparentale Disomie des Chromosoms 14)

u.a. MEG3

Teratoid tumor, atypical

SMARCB1 (=INI1)+del

Testicular germ cell tumor (TGCT)

STK11, KIT

Testicular tumor, sporadic

STK11

Testis-determining factor, X-chromosomal (TDFX), formerly

SRY

Tetralogy of Fallot (TOF)

JAG1+del+dup, NKX2-5, GATA4+del

Teunissen-Cremers syndrome

NOG

Teutschlaender disease, familial

FGF23

Thanatophoric dwarfism

FGFR3

Thanatophoric dysplasia, Luton variant

COL2A1+del

Thanatophoric dysplasia, Torrance variant

COL2A1+del

Thanatophoric dysplasia, type I (TD1)

FGFR3

Thanatophoric dysplasia, type II

FGFR3

Thin membrane nephropathy (TMN)

COL4A3, COL4A4

Thin-basement-mambrane nephropathy

COL4A3, COL4A4

Thrombocythemia (THCYT)

MLP (=C-MLP), JAK2

Thrombocytopenia with beta-thalassemia, X-linked (XLTT)

GATA1

Thrombocytopenia, amegakaryocytic, with radioulnar synostosis

HOXA11

Thrombocytopenia, congenital amegakaryocytic (CAMT)

MLP (=C-MLP)

Thrombocytopenia, familial, with propensity to acute myelogenous leukemia

RUNX1

Thrombocytopenia, X-linked, with or without dyserythropoietic anemia (XLTDA)

GATA1

Thrombocytosis

JAK2

Thyroid carcinoma, follicular (FTC), somatic

HRAS, PTEN+del

Thyroid carcinoma, papillary, somatic (PTC)

PRKAR1A+del

Thyroid hormone metabolism, abnormal

SECISBP2+del

Thyroid hormone resistance, generalized (GRTH) (GTHR)

THRB

Thyroid hormone resistance, selective pituitary (PRTH)

THRB

Thyroid hormone unresponsiveness

THRB

Tight skin contracture syndrome, lethal

LMNA+del

Tooth agenesis, selective, 4 (STHAG4)

WNT10A

Torg syndrome

MMP14, MMP2

Torg-Winchester syndrome

MMP14

Torg-Winchester syndrome, formerly

MMP2

Touraine-Solente-Gole syndrome

HPGD

Townes-Brocks branchiootorenal-like syndrome

SALL1+del

Townes-Brocks syndrome (TBS)

SALL1+del

Transverse cleft, isolated

PTCH2

Treacher Collins syndrome (TCS)

TCOF1+del

Treacher Collins syndrome 1 (TCS1)

TCOF1+del

Treacher Collins-Franceschetti syndrome (TCOF)

TCOF1+del

Trichorhinophalangeal syndrome (TRPS)

TRPS1+del, EXT1+del (=TRPS2)

Trichothiodystrophy with congenital ichthyosis

ERCC3 (=XPB)

Trichothiodystrophy, photosensitive (TTDP)

ERCC3 (=XPB)

Trigonocephaly syndrome

CD96

Trigonocephaly, nonsyndromic (TRICEPH)

FGFR1+del (=KAL2)

Triiodothyronine resistance

SLC16A2 (=MCT8)+del

Truncus arteriosus communis

NKX2-5

Trypsinogen deficiency

PRSS1

Tuberous sclerosis (TSC)

TSC2+del, TSC1+del

Tumoral calcinosis, hyperphosphatemic, familial (HFTC)

FGF23

Tumoral calcinosis, primary hyperphosphatemic (PHPTC)

FGF23

Turcot syndrome

MLH1+del, MSH2+del, MSH6+del, PMS2+del

Turner phenotype with normal karyotype

PTPN11+dup

Krankheit

Gen

Ulna and fibula, absence of, with severe limb deficiency

WNT7A

Unerupted second primary molar

PTH1R (= PTHR)

UPD14

Methylierungsanalyse der Region 14q32.2 (u.a. MEG3-Gen)

UPD7

Methylierungsanalyse der Region 7p12.1 und 7q32.2 (u.a. MEST-Gen)

Urticaria pigmentosa

KIT+del

Urticaria-deafness-amyloidosis (UDA) syndrome

NLRP3 (=NALP3)

VACTERL association

HOXD13+del

Vacuolar cardiomyopathy and myopathy, X-linked

LAMP2+del

Van Buchem disease (VBCH)

SOST

Van der Woude syndrome 1 (VWS1) (VDWS)

IRF6+del

VATERL association with hydrocephalus (VATERL-H)

PTEN+del

VATERL association with macrocephaly and ventriculomegaly

PTEN+del

Ventricular septal defect (VSD)

GATA4+del, NKX2-5

Verma-Naumoff syndrome

DYNC2H1, WDR34

Vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects with macrocephaly and ventriculomegaly (VATERL)

PTEN+del

Vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), and radial or renal dysplasia (R), limb anomalies (L) (VACTERL)

HOXD13+del

Vertebral fusion with carpal coalition

FLNB

Very long chain Acyl-CoA dehydrogenase deficiency

ACADVL (=VLCAD)

Vitamin B12 metabolic defect with combined deficiency of mathylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase

MMACHC

Vitamin D-resistant rickets

PHEX+del+dup, FGF23

Vitreoretinopathy with phalangeal epiphyseal dysplasia

COL2A1+del

Vohwinkel syndrome (VS)

GJB2 (=CX26)

Von Gierke disease

G6PC

von Hippel-Lindau syndrome (VHLS)

VHL+del

Von Recklinghausen disease

NF1+del

Waardenburg syndrome with dystopia canthorum

PAX3+del, SNAI2del, EDN3

Wagner syndrome type 2 (WGN2)

COL2A1+del

WAGR syndrome

PAX6del, WT1del

WAGRO syndrome

PAX6del, WT1del

Walt Disney dwarfism

GORAB (=SCYL1BP1)

Watson syndrome

NF1+del

Weaver syndrome (WES)

EZH2, (NSD1)

Weaver-Smith syndrome (WSS)

EZH2, (NSD1)

Weill-Marchesani syndrome (WMS)

FBN1+del

Weissenbacher-Zweymueller syndrome (WZS)

COL11A2

West syndrome, X-linked

ARX+del+dup

Weyers acrodental dysostosis (WAD)

EVC (=EVC1)+del, EVC2+del

Weyers acrofacial dysostosis

EVC (=EVC1)+del, EVC2+del

WHIM (Warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome

CXCR4

White forelock with malformations

PAX3+del

Wiedemann-Beckwith syndroms (WBS)

CDKN1C+dup; NSD1 (=SOTOS)+del

Williams-Beuren syndrome (WBS)

ELNdel

Wilms tumor and pseudo- or true hermaphroditism

WT1+del

Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome

PAX6del, WT1del

Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome

PAX6del, WT1del

Wilms tumor, somatic

GPC3

Wilms tumor, type 1 (WT1)

WT1+del

Winchester syndrome (WNCHRS)

MMP14

Wolfram syndrome 1 (WFS1) (WFS)

WFS1+del

Wolfram-like syndrome, autosomal dominant (WFSL)

WFS1+del

Wrinkly skin syndrome (WSS)

ATP6V0A2+del

WS4B with Hirschsprung disease

EDN3

Xeroderma pigmentosum, group B (XBP)

ERCC3 (=XPB)

Xeroderma pigmentosum/Cockayne syndrome (XPB/CS)

ERCC3 (=XPB)

X-linked recessive chondrodysplasia punctata type 1 (CPXR1)

ARSE+del bei Frauen

XLMR-Hypotonic facies syndrome

ATRX+del+dup (bei Frauen)

XMESID

ARX+del+dup

XP, group B (XPBC)

ERCC3 (=XPB)

XX Male, SRY-positive

SRY

Yellow nail syndrome (YNS)

FOXC2+del

Ärztliche Leitung

Frau Prof. Dr. med. Dr. Judith Fischer
MVZ - Humangenetik
Universitätsklinikum Freiburg

Adresse
Robert-Koch-Straße 3
79106 Freiburg
Tel.: +49 (0)761-270-94440
Fax: +49 (0)761-270-94030

Sektionsleiter

PD Dr. Ekkehart Lausch
MVZ - Humangenetik
Universitätsklinikum Freiburg

ekkehart.lausch@uniklinik-freiburg.de