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Medizinisches Versorgungszentrum - MVZ

Molekulargenetisches Labor der Sektion Pädiatrische Genetik

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Gene

Krankheiten

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)