Molekulargenetisches Labor der Sektion Pädiatrische Genetik
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Molekulargenetische Untersuchungen
GeneGen | 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) |
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

PD Dr. Ekkehart Lausch
MVZ - Humangenetik
Universitätsklinikum Freiburg