Molekulargenetisches Labor der Sektion Pädiatrische Genetik
Einverständnisserklärungen
Molekulargenetische Untersuchungen
Gene| Gen | Krankheit |
| ABCC8+del | Diabetes mellitus, noninsulin-dependent |
| Diabetes mellitus, permanent neonatal | |
| Diabetes mellitus, transient neonatal 2 | |
| Hyperinsulinemic hypoglycemia, familial, 1 | |
| Hypoglycemia of infancy, leucine-sensitive | |
| ACADM (=MCAD)+del | Acyl-CoA dehydrogenase medium chain deficiency (ACADM) |
| ACADVL (=VLCAD) | Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) |
| ACAN | Osteochondritis dissecans, short stature, and early-onset osteoarthritis (OD) |
| Spondyloepimetaphyseal dysplasia (SEDM), aggrecan type | |
| Spondyloepiphyseal dysplasia, Kimberley type (SEDK) | |
| ACP5 | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) |
| ACTA2 | Aortic aneurysm, familial thoracic 6 (AAT6) |
| Congenital mydriasis | |
| Moyamoya disease 5 (MYMY5) | |
| Multisystemic smooth muscle dysfunction syndrome | |
| ACVR1 | Fibrodysplasia ossificans progressiva (FOP) |
| ADAMTSL2 | Geleophysic dysplasia (GLPD) |
| AGPAT2+del | Lipodystrophy, congenital generalized, type 1 (CGL1) |
| AKT1 | Breast cancer, somatic (BC) |
| Colorectal cancer, somatic (CRC) (= Colon cancer) | |
| Ovarian cancer, somatic (OC) | |
| Proteus syndrome, somatic (PROTEUSS) | |
| Schizophrenia, susceptibility to | |
| ALDOB+del | Fructose intolerance, hereditary (HFI) |
| ALPL (=TNSALP)+del | Hypophosphatasia (HOPS), adult, childhood, infantile or perinatal lethal |
| Odontohypophosphatasia | |
| ALX4+del | foramina parietalia permagna (FPP) |
| frontonasal dysplasia type 2 (FND2) | |
| parietal foramina 2 (PFM2) | |
| Potocki-Shaffer syndrome (PSS) (= 11p11.2 deletion syndrome) | |
| ANTXR1 (=TEM8) | Hemangioma, capillary infantile, susceptibility to (HCI) |
| ANTXR2 (=CMG2) | infantile systemic hyalinosis (ISH) |
| juvenile hyaline fibromatosis (JHF) | |
| APC+del+dup | Adenoma, periampullary, somatic |
| Adenomatous polyposis coli, familial (FAP) | |
| Brain tumor-polyposis syndrome 2 (Gardner syndrome (GS)) | |
| Colorectal cancer, somatic (CRC) | |
| Desmoid disease, hereditary (HDD) | |
| Gastric cancer, somatic | |
| Hepatoblastoma, somatic | |
| Medulloblastoma (MDB), somatic | |
| APOC2+del | Apolipoprotein C-II deficiency |
| ARSE+del | X-linked recessive chondrodysplasia punctata type 1 (CPXR1) |
| ARTEMIS (offiz. DCLRE1C)+del | Omenn syndrome (Reticuloendotheliosis, familial, with eosinophilia) |
| severe combined immunodeficiency Athabaskan-type (SCIDA) | |
| severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID) | |
| ARX+del+dup | Corpus callosum, agenesis of (ACC), with abnormal genitalia (Proud syndrome) |
| Epileptic encephalopathy, early infantile, 1 (EIEE1) (West syndrome, X-linked) | |
| Hydranencephaly with abnormal genitalia | |
| Lissencephaly, X-linked 2 (LISX2) (Lissencephaly, X-linked, with ambiguous genitalia (XLAG)) | |
| Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX) | |
| Partington X-linked mental retardation syndrome (PRTS) | |
| ATL1+del | Neuropathy, hereditary sensory, type ID (HSN1D) |
| Spastic paraplegia-3A (SPG3A) (Strumpell-Lorrain syndrome) | |
| ATP6V0A2+del | Cutis laxa, autosomal recessive, type IIA (ARCL2A) |
| Wrinkly skin syndrome (WSS) | |
| ATP7A+del+dup | Menkes disease (= Kinky hair disease) |
| Occipital horn syndrome (OHS) | |
| Spinal muscular atrophy, distal, X-linked 3 (SMAX3) | |
| ATRX+del+dup | Alpha-thalassemia myelodysplasia syndrome (ATMDS) |
| Alpha-thalassemia/mental retardation syndrome, X-linked (ATRX) | |
| Mental retardation-hypotonic facies syndrome, X-linked (MRXHF1) |
| Gen | Krankheit |
| B3GALT6 | Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2) |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures (SEMDJL1) | |
| B3GALTL+del | Peters-plus syndrome (PpS) |
| B4GALT7 | Ehlers-Danlos syndrome, progeroid form (EDSP) |
| BARX2 | Role in chondrogenesis, myoblast fusion, ocular gland branching, muscle growth and regeneration |
| BCOR+del | Microphthalmia, syndromic 1 (MCOPS1) |
| BCOR+del | Microphthalmia, syndromic 2 (MCOPS2) |
| BMP1 | Osteogenesis imperfecta,autosomal recessive |
| BMP2+del+dup | Brachydactyly, type A2 (BDA2) |
| HFE hemochromatosis, modifier of | |
| BMP4 | Congenital 'healed' cleft lip (CHCL) |
| Microphthalmia, syndromic 6 (MCOPS6) | |
| orofacial cleft type 11 (OFC11) | |
| BMPR1A+del | Juvenile polyposis of stomach |
| Juvenile polyposis syndrome (JPS) | |
| Polyposis syndrome, hereditary mixed, 2 (HMPS2) | |
| BMPR1Adel | Chromosome 10q23 deletion syndrome |
| Juvenile polyposis of infancy | |
| BMPR1B | acromesomelic chondrodysplasia with genital anomalies (AMDGA) |
| brachydactyly, type A2 (BDA2) | |
| BRAF | Adenocarcinoma of lung, somatic |
| Cardiofaciocutaneous syndrome (CFC syndrome) | |
| Colorectal cancer, somatic (CRC) | |
| LEOPARD syndrome 3 | |
| Melanoma, malignant, somatic | |
| Nonsmall cell lung cancer, somatic | |
| Noonan syndrome 7 | |
| BSCL2+del | Lipodystrophy, congenital generalized, type 2 (CGL2) (Berardinelli-Seip congenital lipodystrophy, type 2) |
| Neuronopathy, distal hereditary motor, type VA (HMN5A) | |
| Spastic paraplegia 17, autosomal dominant (SPG17) (Silver snydrome) |
| Gen | Krankheit |
| C1NH (offiz. SERPING1)+del | Angioedema, hereditary, type I (HAE1) (C1 esterase inhibitor, deficiency of) |
| Angioedema, hereditary, type II (HAE2) | |
| Complement component 4 (C4), partial deficiency of | |
| C6ST1 (offiz. CHST3) | Larsen syndrome, autosomal recessive |
| Spondyloepiphyseal dysplasia with congenital joint dislocations (SED Omani type) | |
| C7orf10 | Glutaric aciduria III (GA3) (Glutaryl-CoA oxidase deficiency) |
| C8B | Complement component 8 deficiency, type II (C8D2) |
| C16orf57 (offiz. USB1) | Poikiloderma with neutropenia (PN) (Poikiloderma with neutropenia, Clericuzio-type) |
| CANT1+del | Desbuquois dysplasia (DBQD) |
| CAV1 | Lipodystrophy, congenital generalized, type 3 (CGL3) (Berardinelli-Seip congenital lipodystrophy, type 3) |
| Pulmonary hypertension, primary, 3 (PPH3) | |
| CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSL) |
| CCDC8 | 3M syndrome-3 (3M3) |
| CD96 | C syndrome (CSYN) (Opitz trigonocephaly syndrome) |
| C-like syndrome (CLSYN) (Opitz trigonocephaly-like syndrome) | |
| CDK1 (=CDC2) | Schlüsselrolle bei der Zellzyklus-Kontrolle |
| CDKL5+del+dup | Angelman syndrome-like |
| Epileptic encephalopathy, early infantile, 2 (EIEE2) (Rett syndrome, atypical, CDKL5-related) | |
| CDKN1C+dup | Beckwith-Wiedemann syndrome (BWS) |
| IMAGE (Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome | |
| CDMP1 (offiz. GDF5) | Acromesomelic dysplasia, Hunter-Thompson type (AMDH) |
| Brachydactyly, type A2 (BDA2) (=Brachymesophalangy II) | |
| Brachydactyly, type C (BDC) (Brachydactyly, Haws type) | |
| Chondrodysplasia, Grebe type | |
| Fibular hypoplasia and complex brachydactyly (Du Pan syndrome (DPS)) | |
| Multiple synostoses syndrome 2 (SYNS2) | |
| Osteoarthritis susceptibility 5 (OS5) | |
| Symphalangism, proximal (SYM1) (Cushing symphalangism) | |
| CEBPA | Leukemia, acute myeloid |
| CEP19 | Obesity, morbide |
| CGKI (offiz. PRKG1) | nitric oxide/cGMP signaling pathway, key mediators |
| signal transduction processes in diverse cell types, important components | |
| CHD7 (=KAL5)+del | CHARGE syndrome |
| hypogonadotropic hypogonadism, idiopathic (IHH) | |
| idiopathic scoliosis 3, susceptibility to (IS3) | |
| Kallmann syndrome 5 (KAL5) | |
| CHRNA3 | Lung cancer susceptibility 2 (LNCR2) |
| Smoking as a quantitative trait locus 3 (SQTL3) | |
| CHST10 | Rolle in der HNK1-Biosynthese (neurodevelopment and synaptic plasticity) |
| CHST11 | Sulfatstoffwechsel |
| CHST12 | Sulfatstoffwechsel |
| CHST3 (=C6ST1) | Larsen syndrome, autosomal recessive |
| Spondyloepiphyseal dysplasia with congenital joint dislocations (= SED Omani type) | |
| CMG2 (offiziell ANTXR2) | infantile systemic hyalinosis (ISH) |
| juvenile hyaline fibromatosis (JHF) | |
| C-MLP (offiz. MLP) | Myelofibrosis with myeloid metaplasia, somatic (MMM) |
| Thrombocythemia 2 (THCYT2) | |
| Thrombocytopenia, congenital amegakaryocytic (CAMT) | |
| COL1A1+del | Caffey disease (CAFFD) (infantile cortical hyperostosis) |
| Ehlers-Danlos syndrome type I (EDS1) (Ehlers-Danlos syndrome gravis) | |
| Ehlers-Danlos syndrome type VIIA (EDS7A) (EDS, arthrochalasia type) | |
| Osteogenesis imperfecta type I (OI1) (OI tarda, OI with blue sclerae) | |
| Osteogenesis imperfecta type IIA (OI2A) (OI congenita, perinathal lethal form) | |
| Osteogenesis imperfecta type III (OI3) (OI, progressively deforming, with normal sclerae) | |
| Osteogenesis imperfecta type IV (OI4) (OI with normal sclerae) | |
| Osteoporosis, susceptibility to (OSTEOP) | |
| COL1A2+del | Ehlers-Danlos syndrome, cardiac valvular form (EDSCV) |
| Ehlers-Danlos syndrome, type VIIB (EDS7B) (EDS, arthrochalasia type) | |
| Marfan syndrome, atypical | |
| Osteogenesis imperfecta type IIA (OI2A) (OI congenita, perinathal lethal form) | |
| Osteogenesis imperfecta type III (OI3) (OI, progressively deforming, with normal sclerae) | |
| Osteogenesis imperfecta type IV (OI4) (OI with normal sclerae) | |
| Osteoporosis, postmenopausal | |
| COL2A1+del | Achondrogenesis type II (ACG2) (ACG, Langer-Saldino type) |
| Avascular necrosis of the femoral head (ANFH) | |
| Czech dysplasia (pseudorheumatoid dysplasia, progressive, with hypoplastic toes) | |
| Epiphyseal dysplasia, multiple, with myopia and deafness (EDMMD) | |
| Hypochondrogenesis | |
| Kniest dysplasia (KD) | |
| Legg-Calve-Perthes disease (LCPD; LCP) | |
| Osteoarthritis with mild chondrodysplasia (OACD) | |
| Otospondylomegaepiphyseal dysplasia (OSMED) (Nance-Sweeney chondrodysplasia) | |
| Platyspondylic lethal skeletal dysplasia, Luton type (PLSD-L) | |
| Platyspondylic skeletal dysplasia, Torrance type (PLSD-T) | |
| rhegmatogenous retinal detachment, autosomal dominant (DRRD) | |
| SED, Namaqualand type | |
| Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-STR) | |
| Spondyloepiphyseal dysplasia congenita (SEDC) | |
| Spondyloperipheral dysplasia (SPD) | |
| Stickler sydrome, type I, nonsyndromic ocular (STL1O) | |
| Stickler syndrome, type I (STL1) (Stickler syndrome, vitreous type 1) | |
| Vitreoretinopathy with phalangeal epiphyseal dysplasia | |
| Wagner syndrome type 2 (WGN2) | |
| COL3A1+del | aortic aneurysm, familial abdominal 1 (AAA1) |
| Ehlers-Danlos syndrome, type III (EDSIII; EDS3) (EDS, hypermobility type) | |
| Ehlers-Danlos syndrome, type IV, autosomal dominant (EDS IV; EDS4) (EDS, vascular type) | |
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC) |
| Brain small vessel disease with Axenfeld-Rieger anomaly | |
| Brain small vessel disease with hemorrhage (BSVDH) (infantile hemiparesis) | |
| Porencephaly, familial (PCEPH) | |
| COL4A2 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC) |
| Brain small vessel disease with Axenfeld-Rieger anomaly | |
| Brain small vessel disease with hemorrhage (BSVDH) (infantile hemiparesis) | |
| COL4A3 | Alport syndrome, autosomal dominant (APSAD) |
| Alport syndrome, autosomal recessive (APSAR) | |
| Hematuria, benign familial (BFH) (Thin-basement-mambrane nephropathy) | |
| COL4A4 | Alport syndrome, autosomal recessive |
| Hematuria, benign familial (BFH) (=Thin-basement-membrane nephropathy) | |
| COL4A5+del | Alport syndrome X-linked (APSX) |
| Leiomatosis, diffuse, with Alport syndrome (DL-ATS) | |
| COL5A1+del+dup | Ehlers-Danlos syndrome, type I (EDS I) (EDS1) (EDS, severe classic type) |
| Ehlers-Danlos syndrome, type II (EDS II) (EDS2) (EDS, mild classic type) | |
| COL5A2 | Ehlers-Danlos syndrome, type I (EDS I) (EDS1) (EDS, severe classic type) |
| COL9A1 | epiphyseal dysplasia, multiple, type 6 (EDM6) |
| Stickler Syndrome, autosomal recessive, COL9A1-related (COL9A1ARSTL) | |
| COL9A2 | Epiphyseal dysplasia, multiple, 2 (EDM2) |
| Intervertebral disc disease (IDD), susceptibility to | |
| Stickler syndrome, type V (STL5) | |
| COL9A3 | Epiphyseal dysplasia, multiple, 3 (EDM3) |
| Epiphyseal dysplasia, multiple, with myopathy | |
| Hearing loss, non-syndromic | |
| Intervertebral disc disease, susceptibility to | |
| Pseudoachondroplasia (PSACH) | |
| COL10A1 | Metaphyseal chondrodysplasia, Schmid type (MCDS) |
| COL11A1+del | Fibrochondrogenesis |
| Lumbar disc herniation, susceptibility to | |
| Marshall syndrome (MARSHS) | |
| Stickler syndrome, type II (STL2) | |
| Stickler syndrome, vitreous type 2 | |
| COL11A2 | deafness, autosomal dominant type 13 (DFNA13) |
| deafness, autosomal recessive type 53 (DFNB53) | |
| OSMED, heterozygous (WZS) | |
| Otospondylomegaepiphyseal dysplasia (OSMED) | |
| Stickler syndrome, type III (STL3) | |
| Weissenbacher-Zweymueller syndrome (WZS) | |
| COMP+del | Epiphyseal dysplasia, Fairbank type (EDMF) |
| Epiphyseal dysplasia, multiple 1 (EDM1) | |
| Epiphyseal dysplasia, Ribbing type (EDMR) | |
| Pseudoachondroplasia (PSACH) | |
| CPT2 | CPT deficiency, hepatic, type II (Carnitine palmitoyltransferase II deficiency, infantile) |
| CPT II deficiency, lethal neonatal (Carnitine palmitoyltransferase 2 deficiency, lethal neonatal) | |
| CPT II deficiency, myopathic (Carnitine palmitoyltransferase 2 deficiency, late-onset) | |
| Encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4) | |
| CPX (offiz. EBP) | Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2) (Conradi-Hunermann-Happle syndrome) |
| CREB3L2 | chondrocyte differentiation, key role in |
| epiphyseal cartilage, key role in formation of | |
| Fibromyxoid sarcoma, low grade (LGFMS) | |
| transcription of unfolded protein response target genes, regulation of | |
| CREBBP+del | 16p13.3 deletion syndrome |
| leukemia, acute myeloid | |
| Rubinstein-Taybi syndrome type 1 (RSTS1) | |
| CRELD1 | Atrioventricular septal defect, partial, with heterotaxy syndrome |
| Atrioventricular septal defect, susceptibility to, 2 (AVSD2) | |
| CRTAP | Osteogenesis imperfecta, type IIB (OI2B) |
| Osteogenesis imperfecta, type VII (OI7) | |
| CSGALNACT1+del | role in enchondral ossification and aggrecan metabolism; required for normal cartilage development |
| CTC1 | Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) (Coats plus syndrome) |
| CTNNB1 | Adenomas, salivary gland pleomorphic (PSA) |
| Colorectal cancer (CRC) | |
| Hepatoblastoma | |
| Hepatocellular carcinoma (HCC) | |
| Medulloblastoma (MDB) | |
| Mesothelioma, malignant; susceptibility to (MESOM) | |
| Ovarian cancer (OC) | |
| Pilomatricoma (PTR) | |
| CTSK | Pycnodysostosis (PKND) |
| CUL7 | 3-M syndrome 1 (3M1) |
| CX26 (offiz. GJB2) | Bart-Pumphrey syndrome (BPS) |
| Deafness, autosomal dominant 3A (DFNA3A) | |
| Deafness, autosomal recessive 1A (DFNB1A) | |
| Hystrix-like ichthyosis with deafness (HID syndrome) | |
| Keratitis-ichthyosis-deafness syndrome (KID syndrome) | |
| Keratoderma, palmoplantar, with deafness (PPKDFN) | |
| Vohwinkel syndrome (VS) | |
| CXCR4 | Myelokathexis, isolated |
| WHIM (Warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome | |
| CYP7B1 | Bile acid synthesis defect, congenital, 3 (CBAS3) |
| Spastic paraplegia 5A, autosomal recessive (SPG5A) |
| Gen | Krankheit |
| D2HGDH+del | D-2-Hydroxyglutaric aciduria 1 (D2HGA) (D2HGA1) |
| DBP+del (offiz. HSD17B4) | D-bifunctional protein deficiency (DBPD) |
| Perrault syndrome (PRS) | |
| DCLRE1C(=ARTEMIS)+del | Omenn syndrome (Reticuloendotheliosis, familial, with eosinophilia) |
| severe combined immunodeficiency Athabaskan-type (SCIDA) | |
| severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID) | |
| DHCR7+del | Smith-Lemli-Opitz syndrome (SLOS) |
| DKC1 | Dyskeratosis congenita, X-linked |
| DLD (=LAD) | Dihydrolipoamide dehydrogenase deficiency (DLDD) (Maple syrup urine disease, type III) |
| DLL3 | Spondylocostal dysostosis, autosomal recessive, 1 (SCDO1) |
| DNASE2 | apoptosis, major role during |
| erythropoiesis, major role during | |
| DNMT3B | Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1) |
| DTDST (offiziell SLC26A2) | Achondrogenesis Ib (ACG1B) |
| Atelosteogenesis II (AO2) | |
| De la Chapelle dysplasia (DLCD) | |
| Diastrophic dysplasia (DTD) | |
| Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB) | |
| Epiphyseal dysplasia, multiple, 4 (EDM4) | |
| DYM+dup | Dyggve-Melchior-Clausen disease (DMC) |
| Smith-McCort dysplasia (SMC) | |
| DYNC2H1 | Asphyxiating thoracic dystrophy 3 (ATD3) |
| Short rib-polydactyly syndrome, type II, digenic (SRPS2) | |
| Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome) | |
| EBP (=CPX) | Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2) (Conradi-Hunermann-Happle syndrome) |
| ECSIT | Complex I deficiency, mitochondrial |
| EDN3 | Central hypoventilation syndrome, congenital (CCHS) (Ondine curse) |
| Hirschsprung disease, susceptibility to, 4 (HSCR4) (aganglionic megacolon (MGC)) | |
| Waardenburg syndrome, type 4B (WS4B) (WS4B with Hirschsprung disease) | |
| EFNB1+del+dup | Craniofrontonasal syndrome (CFNS) |
| ELN+del | Cutis laxa, autosomal dominant, 1 (ADCL1) |
| Supravalvar aortic stenosis (SVAS) (SVAS, Eisenberg type) | |
| ELNdel | Williams-Beuren syndrome (WBS) |
| EP300+del | Colorectal cancer (CRC) |
| Rubinstein-Taybi syndrome 2 (RSTS2) | |
| ERCC3 (=XPB) | Ichthyosiform erythroderma with hair abnormality and mental and growth retardation |
| Trichothiodystrophy, photosensitive (TTDP) | |
| Xeroderma pigmentosum, group B (XBP) | |
| Xeroderma pigmentosum/Cockayne syndrome (XPB/CS) | |
| ETFA+del | Glutaric acidemia IIA (ETFA deficiency) |
| Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIA) | |
| ETFB | Glutaric acidemia IIB (ETFB deficiency) |
| Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIB) | |
| ETFDH | Glutaric acidemia IIC (GA2C) (ETFDH deficiency) |
| Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIC) | |
| EVC (=EVC1)+del | Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia) |
| Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome) | |
| EVC2+del | Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia) |
| Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome) | |
| EXT1+del (=TRPS2) | Chondrosarcoma (CHDSA) |
| Exostoses, multiple, type 1 (EXT1) (Osteochondromas, multiple) | |
| Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2)) | |
| EXT2+del | Chondrosarcoma (CHDSA) |
| Exostoses, multiple, type 2 (EXT 2) (= Osteochondromas, multiple) | |
| Potocki-Shaffer syndrome (PSS) (11p11.2 Deletion Syndrome) | |
| EZH2 | Weaver syndrome (WES) (Weaver-Smith syndrome (WSS)) |
| FAM110B | tumor progression, may be involved in |
| FBN1+del | Acromicric dysplasia (ACMICD) |
| Aortic aneurysm, ascending, and dissection | |
| Ectopia lentis, familial (EL) | |
| Geleophysic dysplasia 2 (GPHYSD2) | |
| Marfan syndrome (MFS) (Marfan syndrome, type 1 (MFS1)) | |
| MASS syndrome (overlap connective tissue disease (OCTD)) | |
| Stiff skin syndrome (SSKS) | |
| Weill-Marchesani syndrome 2 (WMS2) | |
| FBN2 | Arthrogryposis, distal, type 9 (DA9) (Beals syndrome) |
| FBXW8 | 3-M syndrome, candidate |
| FGD1+del | Aarskog-Scott syndrome (AAS) (Faciogenital dysplasia (FGDY)) |
| Mental retardation, X-linked syndromic 16 (MRXS16) | |
| FGF8 | Hypogonadotropic hypogonadism |
| Kallmann syndrome 6 (KAL6) | |
| FGF9 | Multiple synostoses syndrome 3 (SYNS3) |
| FGF10+del | Aplasia of lacrimal and salivary glands (ALSG) |
| LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome) | |
| FGF17 | embryonic development, important role in the regulation of; embryonic brain, signaling molecule in the induction and patterning of the |
| FGF23 | Hypophosphatemic rickets, autosomal dominant (ADHR) (Vitamin D-resistant rickets, AD) |
| Osteomalacia, tumor-induced | |
| Tumoral calcinosis, hyperphosphatemic, familial HFTC) (Morbus Teutschlaender) | |
| FGFR1+del (=KAL2) | Hypogonadotropic hypogonadism |
| Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies) | |
| Kallmann syndrome 2 (KAL2) | |
| Osteoglophonic dysplasia (OGD) | |
| Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5)) | |
| Trigonocephaly, nonsyndromic (TRICEPH) (Craniosynostosis, metopic) | |
| FGFR2+del | Antley-Bixler syndrome, type 2 (ABS2) (ABS without genital anomalies or disordered steroidogenesis) |
| Apert syndrome (APRS) (Acrocephalosyndactyly type 1 (ACS1)) | |
| Beare-Stevenson cutis gyrata syndrome (BSTVS) | |
| Craniofacial-skeletal-dermatologic dysplasia | |
| Craniosynostosis, nonspecific | |
| Crouzon syndrome (CS) (Craniofacial dysostosis type I (CFD1)) | |
| Gastric cancer, somatic | |
| Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies) | |
| LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome) | |
| Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5)) | |
| Saethre-Chotzen syndrome (SCS) (Acrocephalodyndactyly, type III ( ACS3)) | |
| Scaphocephaly and Axenfeld-Rieger anomaly | |
| Scaphocephaly, maxillary retrusion, and mental retardation | |
| FGFR3 | Achondroplasia (ACH) |
| Bladder cancer, somatic (BLC) | |
| CATSHL (camptodactyly tall stature and hearing loss) syndrome | |
| Cervical cancer, somatic (CERCA) | |
| Crouzon syndrome with acanthosis nigricans | |
| Hypochondroplasia | |
| Keratosis, seborrheic, somatic | |
| LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome) | |
| Muenke syndrome | |
| multiple myeloma (MM) | |
| Nevus, keratinocytic, nonepidermolytic (KNEN) | |
| Spermatocytic seminoma, somatic | |
| Thanatophoric dysplasia, type I (TD1) | |
| Thanatophoric dysplasia, type II | |
| FKBP10 | Osteogenesis imperfecta, type XI (OI11) |
| FKBP14 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) |
| FLI1 | Ewing sarcoma (ES) |
| Hemangiomatosis | |
| Leukemia, acute lymphoblastic | |
| Paris-Trousseau thrombocytopenia (TCPT) | |
| FLNB | Atelosteogenesis, type I (AOI) (Spondylohumerofemoral hypoplasia) |
| Atelosteogenesis, type III (AOIII) (AO3) | |
| Boomerang dysplasia | |
| Larsen syndrome (LRS), autosomal dominant | |
| Spondylocarpotarsal synostosis syndrome (SCT) | |
| FOXC2+del | Lymphedema, hereditary, type 2 (LMPH2) (Meige disease) |
| Lymphedema-distichiasis syndrome (LYDS) | |
| Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus | |
| Yellow nail syndrome (YNS) (Lymphedema and yellow nails (LYYN)) | |
| FOXG1+del | Rett syndrome, congenital variant (RTTCV) |
| FOXI1 | Enlarged vestibular aqueduct (EVA) |
| Pendred syndrome (PDS) | |
| FOXL2+del+dup | Blepharophimosis, epicanthus inversus, and ptosis, type 1 (BPES1) |
| Blepharophimosis, epicanthus inversus, and ptosis, type 2 (BPES2) | |
| Premature ovarian failure 3 |
| Gen | Krankheit |
| D2HGDH+del | D-2-Hydroxyglutaric aciduria 1 (D2HGA) (D2HGA1) |
| DBP+del (offiz. HSD17B4) | D-bifunctional protein deficiency (DBPD) |
| Perrault syndrome (PRS) | |
| DCLRE1C(=ARTEMIS)+del | Omenn syndrome (Reticuloendotheliosis, familial, with eosinophilia) |
| severe combined immunodeficiency Athabaskan-type (SCIDA) | |
| severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID) | |
| DHCR7+del | Smith-Lemli-Opitz syndrome (SLOS) |
| DKC1 | Dyskeratosis congenita, X-linked |
| DLD (=LAD) | Dihydrolipoamide dehydrogenase deficiency (DLDD) (Maple syrup urine disease, type III) |
| DLL3 | Spondylocostal dysostosis, autosomal recessive, 1 (SCDO1) |
| DNASE2 | apoptosis, major role during |
| erythropoiesis, major role during | |
| DNMT3B | Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF1) |
| DTDST (offiziell SLC26A2) | Achondrogenesis Ib (ACG1B) |
| Atelosteogenesis II (AO2) | |
| De la Chapelle dysplasia (DLCD) | |
| Diastrophic dysplasia (DTD) | |
| Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB) | |
| Epiphyseal dysplasia, multiple, 4 (EDM4) | |
| DYM+dup | Dyggve-Melchior-Clausen disease (DMC) |
| Smith-McCort dysplasia (SMC) | |
| DYNC2H1 | Asphyxiating thoracic dystrophy 3 (ATD3) |
| Short rib-polydactyly syndrome, type II, digenic (SRPS2) | |
| Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome) | |
| EBP (=CPX) | Chondrodysplasia punctata, X-linked dominant, 2 (CDPX2) (Conradi-Hunermann-Happle syndrome) |
| ECSIT | Complex I deficiency, mitochondrial |
| EDN3 | Central hypoventilation syndrome, congenital (CCHS) (Ondine curse) |
| Hirschsprung disease, susceptibility to, 4 (HSCR4) (aganglionic megacolon (MGC)) | |
| Waardenburg syndrome, type 4B (WS4B) (WS4B with Hirschsprung disease) | |
| EFNB1+del+dup | Craniofrontonasal syndrome (CFNS) |
| ELN+del | Cutis laxa, autosomal dominant, 1 (ADCL1) |
| Supravalvar aortic stenosis (SVAS) (SVAS, Eisenberg type) | |
| ELNdel | Williams-Beuren syndrome (WBS) |
| EP300+del | Colorectal cancer (CRC) |
| Rubinstein-Taybi syndrome 2 (RSTS2) | |
| ERCC3 (=XPB) | Ichthyosiform erythroderma with hair abnormality and mental and growth retardation |
| Trichothiodystrophy, photosensitive (TTDP) | |
| Xeroderma pigmentosum, group B (XBP) | |
| Xeroderma pigmentosum/Cockayne syndrome (XPB/CS) | |
| ETFA+del | Glutaric acidemia IIA (ETFA deficiency) |
| Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIA) | |
| ETFB | Glutaric acidemia IIB (ETFB deficiency) |
| Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIB) | |
| ETFDH | Glutaric acidemia IIC (GA2C) (ETFDH deficiency) |
| Multiple acyl-CoA dehydrogenase deficiency (MADD) (Glutaric acidemia IIC) | |
| EVC (=EVC1)+del | Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia) |
| Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome) | |
| EVC2+del | Ellis-van Creveld syndrome (EVC) (chondroectodermal dysplasia) |
| Weyers acrodental dysostosis (WAD) (Curry-Hall syndrome) | |
| EXT1+del (=TRPS2) | Chondrosarcoma (CHDSA) |
| Exostoses, multiple, type 1 (EXT1) (Osteochondromas, multiple) | |
| Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2)) | |
| EXT2+del | Chondrosarcoma (CHDSA) |
| Exostoses, multiple, type 2 (EXT 2) (= Osteochondromas, multiple) | |
| Potocki-Shaffer syndrome (PSS) (11p11.2 Deletion Syndrome) | |
| EZH2 | Weaver syndrome (WES) (Weaver-Smith syndrome (WSS)) |
| FAM110B | tumor progression, may be involved in |
| FBN1+del | Acromicric dysplasia (ACMICD) |
| Aortic aneurysm, ascending, and dissection | |
| Ectopia lentis, familial (EL) | |
| Geleophysic dysplasia 2 (GPHYSD2) | |
| Marfan syndrome (MFS) (Marfan syndrome, type 1 (MFS1)) | |
| MASS syndrome (overlap connective tissue disease (OCTD)) | |
| Stiff skin syndrome (SSKS) | |
| Weill-Marchesani syndrome 2 (WMS2) | |
| FBN2 | Arthrogryposis, distal, type 9 (DA9) (Beals syndrome) |
| FBXW8 | 3-M syndrome, candidate |
| FGD1+del | Aarskog-Scott syndrome (AAS) (Faciogenital dysplasia (FGDY)) |
| Mental retardation, X-linked syndromic 16 (MRXS16) | |
| FGF8 | Hypogonadotropic hypogonadism |
| Kallmann syndrome 6 (KAL6) | |
| FGF9 | Multiple synostoses syndrome 3 (SYNS3) |
| FGF10+del | Aplasia of lacrimal and salivary glands (ALSG) |
| LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome) | |
| FGF17 | embryonic development, important role in the regulation of; embryonic brain, signaling molecule in the induction and patterning of the |
| FGF23 | Hypophosphatemic rickets, autosomal dominant (ADHR) (Vitamin D-resistant rickets, AD) |
| Osteomalacia, tumor-induced | |
| Tumoral calcinosis, hyperphosphatemic, familial HFTC) (Morbus Teutschlaender) | |
| FGFR1+del (=KAL2) | Hypogonadotropic hypogonadism |
| Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies) | |
| Kallmann syndrome 2 (KAL2) | |
| Osteoglophonic dysplasia (OGD) | |
| Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5)) | |
| Trigonocephaly, nonsyndromic (TRICEPH) (Craniosynostosis, metopic) | |
| FGFR2+del | Antley-Bixler syndrome, type 2 (ABS2) (ABS without genital anomalies or disordered steroidogenesis) |
| Apert syndrome (APRS) (Acrocephalosyndactyly type 1 (ACS1)) | |
| Beare-Stevenson cutis gyrata syndrome (BSTVS) | |
| Craniofacial-skeletal-dermatologic dysplasia | |
| Craniosynostosis, nonspecific | |
| Crouzon syndrome (CS) (Craniofacial dysostosis type I (CFD1)) | |
| Gastric cancer, somatic | |
| Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies) | |
| LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome) | |
| Pfeiffer syndrome (PS) (Acrocephalosyndactyly, type V ( ACS5)) | |
| Saethre-Chotzen syndrome (SCS) (Acrocephalodyndactyly, type III ( ACS3)) | |
| Scaphocephaly and Axenfeld-Rieger anomaly | |
| Scaphocephaly, maxillary retrusion, and mental retardation | |
| FGFR3 | Achondroplasia (ACH) |
| Bladder cancer, somatic (BLC) | |
| CATSHL (camptodactyly tall stature and hearing loss) syndrome | |
| Cervical cancer, somatic (CERCA) | |
| Crouzon syndrome with acanthosis nigricans | |
| Hypochondroplasia | |
| Keratosis, seborrheic, somatic | |
| LADD (Lacrimoauriculodentodigital) syndrome (LADDS) (Levy-Hollister syndrome) | |
| Muenke syndrome | |
| multiple myeloma (MM) | |
| Nevus, keratinocytic, nonepidermolytic (KNEN) | |
| Spermatocytic seminoma, somatic | |
| Thanatophoric dysplasia, type I (TD1) | |
| Thanatophoric dysplasia, type II | |
| FKBP10 | Osteogenesis imperfecta, type XI (OI11) |
| FKBP14 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) |
| FLI1 | Ewing sarcoma (ES) |
| Hemangiomatosis | |
| Leukemia, acute lymphoblastic | |
| Paris-Trousseau thrombocytopenia (TCPT) | |
| FLNB | Atelosteogenesis, type I (AOI) (Spondylohumerofemoral hypoplasia) |
| Atelosteogenesis, type III (AOIII) (AO3) | |
| Boomerang dysplasia | |
| Larsen syndrome (LRS), autosomal dominant | |
| Spondylocarpotarsal synostosis syndrome (SCT) | |
| FOXC2+del | Lymphedema, hereditary, type 2 (LMPH2) (Meige disease) |
| Lymphedema-distichiasis syndrome (LYDS) | |
| Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus | |
| Yellow nail syndrome (YNS) (Lymphedema and yellow nails (LYYN)) | |
| FOXG1+del | Rett syndrome, congenital variant (RTTCV) |
| FOXI1 | Enlarged vestibular aqueduct (EVA) |
| Pendred syndrome (PDS) | |
| FOXL2+del+dup | Blepharophimosis, epicanthus inversus, and ptosis, type 1 (BPES1) |
| Blepharophimosis, epicanthus inversus, and ptosis, type 2 (BPES2) | |
| Premature ovarian failure 3 |
| Gen | Krankheit |
| IDH1 | Glioma (GLM) |
| Leukemia, acute myeloid (AML) | |
| Maffucci syndrome (Enchondromatosis, multiple, Maffucci type) | |
| Metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA) | |
| Ollier disease (Enchondromatosis, multiple, Ollier type) | |
| Osteoarthritis, familial early-onset (FOA), susceptibility to | |
| IDH2 | D-2-hydroxyglutaric aciduria type 2 (D2HGA2) |
| Maffucci syndrome (= Enchondromatosis, multiple, Maffucci type) | |
| Metaphyseal chondromatosis with urinary excretion of D-2-hydroxy-glutaric acid (MC-HGA) | |
| Ollier disease (Enchondromatosis, multiple, Ollier type) | |
| IFITM5 | Osteogenesis imperfecta, type 5 (OI5) |
| IFT20 | ciliary assembly, function in |
| IFT25 (offiz. HSPB11) | apoptotic cell death, role in prevention of |
| IFT27 | protein is ras-related, but the function is unknown |
| IFT43 | Cranioectodermal dysplasia 3 (CED3) |
| IFT80 | Asphyxiating thoracic dystrophy 2 (ATD2) (Jeune syndrome 2) |
| IFT122 | Cranioectodermal dysplasia type 1 (CED1) |
| IGFALS | Acid-labile subunit, deficiency of (ALSD) |
| IHH | Acrocapitofemoral dysplasia (ACFD) |
| Brachydactyly, type A1 (BDA1) | |
| IKBKG (=NEMO)+del | Atypical mycobacteriosis, familial (AMCBX1) |
| Ectodermal dysplasia, anhidrotic, with immune deficiency (EDA-ID) | |
| Ectodermal dysplasia, hypohidrotic, with immune deficiency (HED-ID) | |
| Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency | |
| Immunodeficiency, isolated | |
| Incontinentia pigmenti, type II, formerly | |
| Invasive pneumococcal disease, recurrent isolated, 2 (IPD2) | |
| IMPAD1 | chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) |
| INI1 (offiz. SMARCB1)+del | Rhabdoid predisposition syndrome 1 (RPS1) |
| Rhabdoid tumor (RDT) (Teratoid tumor, atypical) | |
| Schwannomatosis (Neurofibromatosis type 3 (NF3)) | |
| IRF6+del | Orofacial cleft 6, susceptibility to (OFC6) |
| Popliteal pterygium syndrome 1 (PPS) | |
| van der Woude syndrome 1 (VWS1) (Cleft lip and/or palate with mucous cysts of lower lip) | |
| IVD | Isovaleric acidemia (IVA) |
| JAG1+del+dup | Alagille syndrome, type 1 (ALGS1) |
| Deafness, congenital heart defects, and posterior embryotoxon | |
| Tetralogy of Fallot (TOF) | |
| JAK2 | Budd-Chiari syndrome, susceptibility to (BDCHS) |
| Erythrocytosis, somatic | |
| Leukemia, acute myelogenous (AML) (= Leukemia, acute myeloid) | |
| Myelofibrosis, somatic | |
| Polycythemia vera (PV) (= Polycythemia rubra vera (PRV)) | |
| Thrombocythemia 3 (THCYT3) (= Thrombocytosis) | |
| KAL1+del | Kallmann syndrome 1 (KAL1) (Hypogonadotropic hypogonadism and anosmia (HHA)) |
| KAL2+del (offiz. FGFR1) | Hypogonadotropic hypogonadism |
| Jackson-Weiss syndrome (JWS) (craniosynostosis, midfacial hypoplasia, and foot anomalies) | |
| Kallmann syndrome 2 (KAL2) | |
| Osteoglophonic dysplasia (OGD) | |
| Pfeiffer syndrome (PS) (Acrocephalodyndactyly, type V ( ACS5)) | |
| Trigonocephaly, nonsyndromic (TRICEPH) (Craniosynostosis, metopic) | |
| KAL3 (offiz. PROKR2) | Kallmann syndrome 3 |
| KAL4 (offiz. PROK2) | Hypogonadism, hypogonadotropic |
| Kallmann syndrome 4 | |
| KAL5 (off. CHD7)+del | CHARGE syndrome |
| hypogonadotropic hypogonadism, idiopathic (IHH) | |
| idiopathic scoliosis 3, susceptibility to (IS3) | |
| Kallmann syndrome 5 (KAL5) | |
| KCNJ11 | Diabetes mellitus, permanent neonatal (PNDM) (Diabetes mellitus, permanent, of infancy (PDMI) |
| Diabetes mellitus, permanent neonatal, with neurologic features | |
| Diabetes mellitus, transient neonatal, 3 (TNDM3) | |
| Diabetes mellitus, type 2, susceptibility to (= noninsulin-dependent diabetes mellitus (NIDDM), susceptibility to) | |
| Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) | |
| KCTD1 | Scalp-ear-nipple syndrome (SENS) (Finlay-Marks syndrome) |
| KIF7 | Acrocallosal syndrome |
| Hydrolethalus syndrome 2 | |
| Joubert syndrome 12 | |
| KIF22 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) |
| KISS1R | Hypogonadotropic hypogonadism |
| Precocious puberty, central | |
| KIT+del | Gastrointestinal stromal tumor, familial (GIST) |
| Leukemia, acute myeloid (AML) | |
| Mast cell disease (= Mastocytosis) | |
| Testicular germ cell tumors (TGCT) (Male germ cell tumor (MGCT)) | |
| Piebald trait (PBT) (Piebaldism) | |
| Urticaria pigmentosa | |
| KRAS | Bladder cancer, somatic |
| Breast cancer, somatic | |
| Cardiofaciocutaneous syndrome 2 (CFC2) | |
| Gastric cancer, somatic | |
| Leukemia, acute myeloid (AML) | |
| Lung cancer, somatic | |
| Noonan syndrome 3 (NS3) | |
| Pancreatic cancer, somatic | |
| Schimmelpfennig-Feuerstein-Mims syndrome (SFM), somatic mosaic | |
| KRT14 | Dermatopathia pigmentosa reticularis (DPR) |
| Epidermolysis bullosa simplex Dowling-Meara type (EBS-DM) | |
| Epidermolysis bullosa simplex Koebner type (EBS-K) | |
| Epidermolysis bullosa simplex Weber-Cockayne type (EBS-WC) | |
| Epidermolysis bullosa simplex, autosomal recessive (AREBS) | |
| Naegeli-Franceschetti-Jadassohn syndrome (NFJS) (Naegeli syndrome) |
| Gen | Krankheit |
| L2HGDH+del | L-2-Hydroxyglutaric aciduria |
| LAD (offiz. DLD) | Dihydrolipoamide dehydrogenase deficiency (DLDD) (E3 deficiency) (Maple syrup urine disease, type III) |
| LAMP2+del | Danon disease (DAND) (= Glycogen storage disease type 2B (GSD2B), formerly) |
| LAMR1 (offiz. RPSA) | Asplenia, isolated congenital |
| LEPRE1+del | Osteogenesis imperfecta, type 8 (OI8) |
| LFNG | Spondylocostal dysostosis, type 3 (SCDO3) |
| LHX3+del | Pituitary hormone deficiency, combined, 3 (CPHD3) |
| LHX4+del | Leukemia, acute lymphoblastic (ALL) |
| Pituitary hormone deficiency, combined, 4 (CPHD4) | |
| LIFR | Adenomas, salivary gland pleomorphic (PSA; SGPA) |
| Stueve-Wiedemann syndrome (SWS) (Schwartz-Jampel syndrome, type 2 (SJS2)) | |
| LMNA+del | Cardiomyopathy, dilated, 1A (CMD1A) |
| Charcot-Marie-Tooth disease, axonal, type 2B1 (CMT2B1) | |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) | |
| Emery-Dreifuss muscular dystrophy, atypical, autosomal recessive | |
| Heart-hand syndrome, Slovenian type | |
| Hutchinson-Gilford progeria syndrome (HGPS) (= Progeria) | |
| Lipodystrophy, familial partial, type 2 (FPLD2) (Dunnigan type) | |
| Malouf syndrome (Cardiomyopathy, dilated, with hypergonadotropic hypogonadism) | |
| Mandibuloacral dysplasia with type A lipodystrophy (MADA) (Craniomandibular dermatodysostosis) | |
| Mandibuloacral dysplasia with type A lipodystrophy, atypical | |
| Muscular dystrophy, congenital, LMNA-related (MDCL) | |
| Muscular dystrophy, limb-girdle, type 1B (LGMD1B) | |
| Progeria syndrome, childhood onset | |
| Restrictive dermopathy, lethal (Tight skin contracture syndrome, lethal) | |
| LMNB2 | Lipodystrophy, partial, acquired, susceptibility to (APLD) (Barraquer-Simons syndrome) |
| LMX1B+del | Nail-patella syndrome (NPS) (Onychoosteodysplasia) |
| Nail-patella syndrome with primary open angle glaucoma (POAG) | |
| LNP (offiz. NUSAP1) | spindle microtubule organization, role in |
| LPIN2 | Majeed syndrome (MAJEEDS) (chronic recurrent multifocal osteomyelitis (CRMO), congenital dyserythropoietic anemia (CDA), and neutrophilic dermatosis (Sweet syndrome)) |
| LPL+del+dup | Hyperlipidemia, familial combined (FCHL) |
| Hyperlipoproteinemia, type I (Lipoprotein lipase (LPL) deficiency) | |
| MAFB | Multicentric carpotarsal osteolysis syndrome (MCTO) |
| MAP2K1 (=MEK1) | Cardiofaciocutaneous syndrome 3 (CFC3) |
| MAP2K2 (=MEK2) | Cardiofaciocutaneous syndrome 4 (CFC4) |
| MAT1A | Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency |
| Methionine adenosyltransferase (MAT) deficiency, autosomal recessive | |
| MATN3 | Epiphyseal dysplasia, multiple, 5 (EDM5) |
| Osteoarthritis, susceptibility to, 2 (OS2) | |
| Spondyloepimetaphyseal dysplasia (SEMD) | |
| MBOAT1+del | Brachydactyly-syndactyly syndrome, novel |
| MC4R | Obesity, autosomal dominant (OBESITY) |
| MCAD (offiz. ACADM)+del | Acyl-CoA dehydrogenase medium chain (ACADM) deficiency = medium chain Acyl-CoA dehydrogenase deficiency (MCAD) |
| MECP2+del+dup | Angelman syndrome-like |
| Autism susceptibility, X-linked 3 (AUTSX3) | |
| Encephalopathy, neonatal severe | |
| Mental retardation, X-linked syndromic, Lubs type (MRXSL) (MECP2 duplication syndrome) | |
| Mental retardation, X-linked, syndromic 13 (MRXS13) | |
| Rett syndrome (RTT; RTS) | |
| Rett syndrome, preserved speech variant (RTT-PSV) (Rett syndome, atypical) | |
| MED12 | Lujan-Fryns syndrome (Mental retardation, X-linked, with marfanoid habitus) |
| Ohdo syndrome, X-linked (OHDOX) (Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type) | |
| Opitz-Kaveggia syndrome (OKS) (FG syndrome 1 (FGS1)) | |
| MEF2C+del | Bone development and chondrocyte hypertrophy, control of |
| Chondrocyte hypertrophy and bone development, control of | |
| Mental retardation, autosomal dominant 20 (MRD20) | |
| Chromosome 5q14.3 deletion syndrome | |
| MEK1 (offiz. MAP2K1) | Cardiofaciocutaneous syndrome 3 (CFC3) |
| MEK2 (offiz. MAP2K2) | Cardiofaciocutaneous syndrome 4 (CFC4) |
| MESP2 | Spondylocostal dysostosis type 2 (SCDO2) |
| MID1+del+dup | Opitz GBBB syndrome, X-linked (Opitz syndrome (OS)) |
| MLH1+del | Cafe-au-lait spots with glioma or leukemia |
| Colorectal cancer, hereditary nonpolyposis, type 2 (HNPCC2) | |
| Endometrial cancer (ENDMC), susceptibility to | |
| Lobular carcinoma in situ (LCIS) | |
| Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome) (Brain tumor-polyposis syndrome 1) | |
| Muir-Torre syndrome (MRTES) | |
| MLH3 | Colon cancer, hereditary nonpolyposis, type 7 (HNPCC7) |
| Colorectal cancer, somatic (CRC) | |
| Endometrial cancer | |
| MLP (=C-MLP) | Myelofibrosis with myeloid metaplasia, somatic (MMM) |
| Thrombocythemia 2 (THCYT2) | |
| Thrombocytopenia, congenital amegakaryocytic (CAMT) | |
| MMACHC | Methylmalonic aciduria and homocystinuria, cblC type |
| MMP2 | Multicentric osteolysis, nodulosis, and arthropathy (MONA) (Nodulosis-arthropathy-osteolysis syndrome) |
| MMP9 | Lumbar disc herniation (LDH), susceptibility to |
| Metaphyseal anadysplasia type 2 (MANDP2) | |
| MMP13 | Metaphyseal anadysplasia type 1 (MANDP1) |
| Spondyloepimetaphyseal dysplasia, Missouri type (SEMD-MO) | |
| MMP14 | Torg-Winchester syndrome (Nodulosis-arthropathy-osteolysis (NAO) syndrome) |
| Winchester syndrome (WNCHRS) | |
| MOPD2 (offiz. PCNT)+del | Microcephalic osteodysplastic primordial dwarfism, type II (MOPD2) (Osteodysplastic primordial dwarfism, type II) |
| Seckel syndrome | |
| MSH2+del | Cafe-au-lait spots, multiple, with leukemia (DD zu MMRCS) |
| Colorectal cancer, hereditary nonpolyposis, type 1 (HNPCC1) (Lynch syndome 1) | |
| Colorectal cancer, hereditary nonpolyposis, type 8 (HNPCC8) | |
| Endometrial cancer (ENDMC), susceptibility to | |
| Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome (Brain tumor-polyposis syndrome 1) | |
| Muir-Torre syndrome (MRTES) | |
| Neurofibromatosis, type I, with leukemia (DD zu MMRCS) | |
| MSH6+del | Colorectal cancer, hereditary nonpolyposis, type 5 (HNPCC5) |
| Endometrial cancer, familial (ENDMC) | |
| Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome (Brain tumor-polyposis syndrome 1) | |
| Ovarian cancer, endometrioid type | |
| MSX2+del | Craniosynostosis, type 2 (CRS2) (Craniosynostosis Boston-type (CSB)) |
| Parietal foramina 1 (PFM1) (Cranium bifidum occultum) | |
| Parietal foramina with cleidocranial dysplasia (PFMCCD) (Cleidocranial dysplasia with parietal foramina) | |
| MYH3 | Arthrogryposis, distal, type 2A (DA2A) (Freeman-Sheldon syndrome (FSS)) |
| Arthrogryposis, distal, type 2B (DA2B) (Sheldon-Hall syndrome (SHS)) )Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B)) | |
| MYH11+dup | Aortic aneurysm, familial thoracic 4 (AAT4) |
| MYLK | Aortic aneurysm, familial thoracic 7 (AAT7) |
| MYO6 | Deafness, autosomal dominant 22 (DFNA22) |
| Deafness, autosomal dominant 22 (DFNA22), with hypertrophic cardiomyopathy | |
| Deafness, autosomal recessive 37 (DFNB37) |
| Gen | Krankheit |
| NALP3 (offiz. NLRP3) | CINCA (chronic infantile neurologic cutaneous and articular) syndrome |
| Cold-induced autoinflammatory syndrome, familial (FCAS) (Cold urticaria, familial (FCU)) | |
| Muckle-Wells syndrome (MWS) (Urticaria-deafness-amyloidosis (UDA) syndrome) | |
| NALP12 (offiz. NLRP12) | Cold autoinflammatory syndrome type 2, familial (FCAS2) |
| NELF | Hypogonadotropic hypogonadism |
| Kallmann syndrome | |
| NEMO (offiz. IKBKG)+del | Atypical mycobacteriosis, familial (AMCBX1) |
| Ectodermal dysplasia, anhidrotic, with immune deficiency (EDA-ID) | |
| Ectodermal dysplasia, hypohidrotic, with immune deficiency (HED-ID) | |
| Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency | |
| Immunodeficiency, isolated | |
| Incontinentia pigmenti, type II, formerly (IP2, formerly) | |
| Invasive pneumococcal disease, recurrent isolated, 2 (IPD2) | |
| NF1+del | Leukemia, juvenile myelomonocytic (JMML) |
| Melanoma, desmoplastic neurotrophic (DNM) | |
| Neurofibromatosis, familial spinal (FSNF) | |
| Neurofibromatosis, type 1 ( Von recklinghausen disease) | |
| Neurofibromatosis-Noonan syndrome (NFNS) | |
| Watson syndrome (= Pulmonic stenosis with cafe-au-lait spots) | |
| NFIX | Marshall-Smith syndrome (MSS) |
| Sotos syndrome 2 | |
| NHP2 (=NOLA2) | Dyskeratosis congenita, autosomal recessive 2 (DKCB2) |
| NIPBL+del | Cornelia de Lange syndrome type 1 (CDLS1) |
| NKX2-5 | Atrial septal defect 7, with or without AV conduction defects (ASD7) |
| Conotruncal heart malformations, variable (CTHM) | |
| Hypoplastic left heart syndrome 2 (HLHS2) | |
| Hypothyroidism, congenital nongoitrous, 5 (CHNG5) | |
| Tetrology of Fallot (TOF) | |
| Truncus arteriosus communis (Persistent truncus arteriosus (PTA)) | |
| Ventricular septal defect 3 (VSD3) | |
| NLRP3 (=NALP3) | CINCA (chronic infantile neurologic cutaneous and articular) syndrome (CINCA) |
| Cold-induced autoinflammatory syndrome, familial (FCAS) (Cold urticaria, familial (FCU)) | |
| Muckle-Wells syndrome (MWS) (Urticaria-deafness-amyloidosis (UDA) syndrome) | |
| NLRP12 (=NALP12) | Cold autoinflammatory syndrome type 2, familial (FCAS2) |
| NOG | Brachydactyly, type B2 (BDB2) |
| Multiple synostosis syndrome 1 (SYNS1) (Symphalangism-brachydactyly syndrome) | |
| Stapes ankylosis with broad thumb and toes (SABTS) (Teunissen-Cremers syndrome) | |
| Symphalangism, proximal (SYM1) (Cushing symphalangism) | |
| Synostosis of talus and calcaneus with short stature | |
| Tarsal-carpal coalition syndrome (TCC) | |
| NOLA2 (offiz. NHP2) | Dyskeratosis congenita, autosomal recessive 2 (DKCB2) |
| NOLA3 (offiz. NOP10) | Dyskeratosis congenita, autosomal recessive 1 (DKCB1) |
| NOP10 (=NOLA3) | Dyskeratosis congenita, autosomal recessive 1 (DKCB1) |
| NOTCH1+del | Aortic valve disease 1 (AOVD1) |
| Leukemia, T-cell acute lymphoblastic | |
| NPR2 | Acromesomelic dysplasia, Maroteaux type (AMDM) |
| St. Helena dysplasia | |
| NPR3 | Hypertension, salt-resistant (?) |
| NR5A1 | 46,XY sex reversal 3 (SRXY3) |
| Adrenocortical insufficiency | |
| Hypogonadotropic hypogonadism with or without anosmia (HH) | |
| Premature ovarian failure 7 (POF7) | |
| Spermatogenic failure 8 (SPGF8) | |
| NRXN1+del | Pitt-Hopkins-like syndrome 2 (PTHSL2) |
| Chromosome 2p16.3 deletion syndrome | |
| Schizophrenia, susceptibility to, 17 | |
| NSD1 (=SOTOS)+del | Beckwith-Wiedemann syndrome (BWS) |
| Leukemia, acute myeloid (AML) | |
| Sotos syndrome (SOTOSS) (Cerebral gigantism) | |
| NUSAP1 (=LNP) | spindle microtubule organization, role in |
| OBSL1 | 3M syndrome 2 (3M2) |
| OPG (offiz. TNFRSF11B) | Paget disease, juvenile (JPD) (Hyperphosphatasia, hereditary) |
| OTX2+del | Microphthalmia, syndromic 5 (MCOPS5) |
| Pituitary hormone deficiency, combined, 6 (CPHD6) | |
| Retinal dystrophy, early-onset, and pituitary dysfunction |
| Gen | Krankheit |
| p63 (offiz. TP63) | ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome |
| Cervical cancer | |
| Colon cancer | |
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | |
| Hay-Wells syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome) | |
| Head cancer | |
| Limb-mammary syndrome (LMS) | |
| Lung cancer | |
| Neck cancer | |
| Orofacial cleft 8 (OFC8) | |
| Ovarian cancer | |
| Rapp-Hodgkin syndrome (RHS) (= Ectodermal dysplasia Rapp-Hodgkin type (EDRH)) | |
| Split-hand/foot malformation 4 (SHFM4) | |
| PACSIN3 | vesicle formation and transport, role in |
| PAH+del | Hyperphenylalaninemia, mild (HPA, mild) |
| Hyperphenylalaninemia, non-PKU mild (HPA, non-PKU mild) | |
| Phenylketonuria (PKU) (PAH deficiency) | |
| PAPSS2 | Brachyolmia, autosomal recessive |
| Spondylodysplasia and premature pubarche | |
| Spondyloepimetaphyseal dysplasia, Pakistani type (SEMD, PA) | |
| PAX2+del | Optic nerve coloboma with renal disease (Renal-coloboma syndrome) |
| Renal hypoplasia, isolated | |
| PAX3+del | Craniofacial-deafness-hand syndrome (CDHS) |
| Rhabdomyosarcoma 2 (RMS2) (Rhabdomyosarcoma, alveolar (RMSA)) | |
| Waardenburg syndrome, type 1 (WS1) | |
| Waardenburg syndrome, type 3 (WS3) | |
| PAX6+del | Aniridia (AN) (Aniridia II (AN2), formerly) |
| Cataract with late-onset corneal dystrophy | |
| Coloboma of optic nerve (COLON) | |
| Coloboma, ocular (COLO) | |
| Ectopia pupillae | |
| Foveal hypoplasia and presenile cataract syndrome (O'Donnell-Papas syndrome) | |
| Foveal hypoplasia with anterior segment anomalies | |
| Foveal hypoplasia, isolated | |
| Gillespie syndrome (GS) (Aniridia, cerebellar ataxia, and mental deficiency (ACAMD)) | |
| Keratitis, hereditary (KERH) | |
| Morning glory disc anomaly | |
| Optic nerve aplasia, bilateral (BONA) | |
| Optic nerve head pits, bilateral, congenital | |
| Optic nerve hypoplasia, bilateral (BONH) | |
| Peters anomaly (PAN) | |
| WAGR (Wilms tumor, aniridia, genitourinary anomalies , and mental retardation) syndrome (chromosome 11p13 deletion syndrome) | |
| WAGRO (Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity) syndrome (chromosome 11p13-p12 deletion syndrome) | |
| PC | Pyruvate carboxylase (PC) deficiency |
| PCNT (=MOPD2)+del | Microcephalic osteodysplastic primordial dwarfism, type II (MOPD2) |
| Seckel syndrome | |
| PDE4D | Acrodysostosis type 2, with or without hormone resistance (ACRDYS2) |
| PEX7+del | Refsum disease, adult (RDA) (Motor and sensory neuropathy, hereditary, 4 (HMSN4)) |
| Rhizomelic chondrodysplasia punctata, type 1 (RCDP1) (Chondrodysplasia punctata, rhizomelic form) | |
| PGN (offiz. SPG7)+del | Spastic paraplegia 7, autosomal recessive (SPG7) |
| PHEX+del+dup | Hypophosphatemic rickets, X-linked dominant (XLHR) (Vitamin D-resistant rickets, X-linked) |
| PIN1 | Hypogonadotropic Hypogonadism without anosmia |
| PITX2+del | Axenfeld-Rieger syndrome, type 1 (RIEG1) (Rieger syndrome type 1) |
| Iridogoniodysgenesis, type 2 (IRID2) | |
| Peters anomaly (PAN) | |
| Ring dermoid of cornea (RDC) | |
| PLCG2 (nur del) | Familial cold autoinflammatory syndrome 3 (FCAS3) |
| PLOD1+del+dup | Ehlers-Danlos syndrome, type VI (EDS6) (EDS, kyphoscoliotic type) |
| PLOD2 | Bruck syndrome 2 (BRKS2) (Osteogenesis imperfecta with congenital joint contractures) |
| PMS2+del | Colorectal cancer, hereditary nonpolyposis, type 4 (HNPCC4) (Lynch syndrome 4) |
| Mismatch repair cancer syndrome (MMRCS) (Turcot syndrome) (Brain tumor-polyposis syndrome 1) | |
| POMC | Obesity, early-onset, susceptibility to |
| Proopiomelanocortin deficiency (Obesity, adrenal insufficiency, and red hair) | |
| POP1 | Anauxetic dysplasia (Spondylometaepiphyseal dysplasia, Menger type) |
| POR+del | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (ABS1) |
| Cytochrome P450 oxidoreductase deficiency (POR deficiency) | |
| Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) | |
| PORCN+del | Focal dermal hypoplasia (FODH) (Goltz syndrome; Goltz-Gorlin syndrome) |
| POU1F1+del | Pituitary hormone deficiency, combined, 1 (CPHD1) |
| PPIB | Osteogenesis imperfecta, type IX (OI9) |
| PRKAR1A+del | Acrodysostosis 1, with or without hormone resistance (ACRDYS1) |
| Adrenocortical tumor, somatic | |
| Carney complex, type 1 (CNC1) | |
| Myxoma, intracardiac (INTMYX) | |
| Pigmented nodular adrenocortical disease, primary, 1 (PPNAD1) (Cushing syndrome, adrenal, due to PPNAD1) | |
| Thyroid carcinoma, papillary, somatic (PTC) | |
| PRKG1 (=CGKI) | nitric oxide/cGMP signaling pathway, key mediators |
| signal transduction processes in diverse cell types, important components | |
| PROK2 (=KAL4) | Hypogonadism, hypogonadotropic |
| Kallmann syndrome 4 | |
| PROKR2 (=KAL3) | Kallmann syndrome 3 |
| PROP1+del | Pituitary hormone deficiency, combined, 2 (CPHD2) (Panhypopituitarism) |
| PRSS1 | Pancreatitis, hereditary (PCTT) |
| Trypsinogen deficiency | |
| PTCH1+del | Basal cell carcinoma, somatic (BCC) |
| Basal cell nevus syndrome (BCNS) (Gorlin syndrome; Gorlin-Goltz syndrome) | |
| Holoprosencephaly-7 (HPE7) | |
| Medulloblastoma, somatic (MDB) | |
| PTCH2 | Basal cell carcinoma, somatic (BCC) |
| Macrostomia, isolated (Lateral cleft, isolated) | |
| Medulloblastoma, somatic (MDB) | |
| PTEN+del | Bannayan-Riley-Ruvalcaba syndrome (BRRS) |
| Chromosome 10q23 deletion syndrome | |
| Cowden disease (CD) (Cowden syndrome (CS)) (Multiple hamartoma syndrome (MHAM)) | |
| Endometrial carcinoma, somatic (ENDMC) | |
| Glioma susceptibility 2 (GLM2) | |
| Juvenile polyposis syndrome, infantile | |
| Lhermitte-Duclos syndrome (LDD) (Cerebelloparenchymal disorder VI (CPD6)) | |
| Macrocephaly/autism syndrome (MCEPHAS) | |
| Melanoma, malignant, somatic | |
| Meningioma | |
| Meningioma | |
| Oligodendroglioma | |
| Prostate cancer, somatic (PC) | |
| Proteus syndrome | |
| PTEN hamartoma tumor syndrome (PHTS) (includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome) | |
| Squamous cell carcinoma, head and neck, somatic (HNSCC) | |
| Thyroid carcinoma, follicular, somatic (FTC) | |
| VATERL (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects) with macrocephaly and ventriculomegaly association | |
| PTH1R (= PTHR) | Chondrodysplasia, Blomstrand type (BOCD) |
| Eiken syndrome (Bone modeling defect of hands and feet) | |
| Enchondromatosis, multiple, Ollier type (ENCHOM) (Osteochondromatosis) | |
| Failure of tooth eruption, primary (PFE) | |
| Metaphyseal chondrodysplasia, Murk Jansen type | |
| PTPN1 | Insulin resistance, susceptibility to |
| PTPN11+del+dup | Leukemia, juvenile myelomonocytic (JMML) |
| Pterygium colli syndrome | |
| LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome 1 | |
| Metachondromatosis (METCDS) | |
| Noonan syndrome 1 (NS1) | |
| PTRF | Lipodystrophy, congenital generalized, type 4 (CGL4) (Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy) |
| PYCR1+del | Cutis laxa autosomal recessive type 2B (ARCL2B) (Cutis laxa with progeroid features) |
| Cutis laxa autosomal recessive type IIIB (ARCL3B) (De Barsy Syndrome B) |
| Gen | Krankheit |
| RAB23 | Carpenter syndrome (CARPS) (Acrocephalopolysyndactyly type 2 (ACPS2)) |
| RAF1+del+dup | LEOPARD syndrome 2 |
| Noonan syndrome 5 (NS5) | |
| RAG1+del | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity (T-CMVA) |
| Combined cellular and humoral immune defects with granulomas (CCHIDG) | |
| Omenn syndrome (OS) (Severe combined immunodeficiency with hypereosinophilia) | |
| Severe combined immunodeficiency, B cell-negative (B- SCID) | |
| RAG2+del | Combined cellular and humoral immune defects with granulomas (CCHIDG) |
| Omenn syndrome (OS) (Severe combined immunodeficiency with hypereosinophilia) | |
| Severe combined immunodeficiency, B cell-negative (= B- SCID) | |
| RIT1 | Noonan syndrome 8 (NS8) |
| RMRP | Anauxetic dysplasia (Spondylometaepiphyseal dysplasia, Menger type) |
| Cartilage-hair hypoplasia (CHH) (Metaphyseal chondrodysplasia, McKusick type) | |
| Metaphyseal dysplasia without hypotrichosis (Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency) | |
| RNU4ATAC | Microcephalic osteodysplastic primordial dwarfism, type I (MOPD1) (Taybi-Linder syndrome (TALS)) |
| RPL5 | Aase syndrome |
| Aase-Smith syndrome II | |
| Diamond-Blackfan anemia 6 | |
| RPL11 | Diamond-Blackfan anemia 7 |
| RPL15 | Diamond-Blackfan anemia 12 |
| RPL26 | Diamond-Blackfan anemia 11 |
| RPL35A | Diamond-Blackfan anemia 5 |
| RPS6KA3 (=RSK2) +del+dup | Coffin-Lowry syndrome (CLS) |
| Mental retardation, X-linked 19 (MRX19) | |
| RPS7 | Diamond-Blackfan anemia 8 |
| RPS10 | Diamond-Blackfan anemia 9 |
| RPS15 | Diamond-Blackfan anemia, candidate |
| RPS17 | Diamond-Blackfan anemia 4 |
| RPS19 | Aase syndrome |
| Aase-Smith syndrome II | |
| Anemia, congenital erythroid hypoplastic | |
| Anemia, congenital hypoplastic, of Blackfan and Diamond | |
| Aregenerative anemia, chronic congenital | |
| Blackfan-Diamond Syndrome; BDS | |
| Diamond-Blackfan anemia 1 (DBA1) (DBA) | |
| Erythrogenesis imperfecta | |
| Red cell aplasia, pure, hereditary | |
| RPS24 | Diamond-blackfan anemia 3 |
| RPS26 | Diamond-Blackfan anemia 10 |
| RPSA (= LAMR1) | Asplenia, isolated congenital |
| RSK2 (offiz. RPS6KA3) +del+dup | Coffin-Lowry syndrome (CLS) |
| Mental retardation, X-linked 19 (MRX19) | |
| RTEL1 | Dyskeratosis congenita, autosomal dominant 4 (DKCA4) |
| RTEL1 | Dyskeratosis congenita, autosomal recessive 5 (DKCB5) |
| RUNX1 | Leukemia, acute myeloid |
| RUNX1 | Platelet disorder, familial, with associated myeloid malignancy (FPDMM) |
| RUNX2+del | Cleidocranial dysplasia (CCD) (= Cleidocranial dysostosis (CLCD)) |
| Dental anomalies, isolated | |
| SALL1+del | Townes-Brocks branchiootorenal-like syndrome |
| Townes-Brocks syndrome (TBS) (Renal-ear-anal-radial syndrome) | |
| SBDS+del | Shwachman-Bodian-Diamond syndrome (SBDS) (Pancreatic insufficiency and bone marrow dysfunction) |
| SCYL1BP1 (offiz. GORAB) | Geroderma osteodysplasticum (GO) (Walt Disney dwarfism) |
| SDCBP | Role in linking syndecan-mediated signaling to the cytoskeleton, cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors; perhaps a role in melanoma differentiation and neurofibromatosis II |
| SECISBP2+del | Thyroid hormone metabolism, abnormal |
| SEDLIN (offiz. TRAPPC2)+del | Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) |
| SEMA3A+del | Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) |
| SERPINF1 | Osteogenesis imperfecta, type VI (OI6) |
| SERPING1 (=C1NH)+del | Angioedema, hereditary, type I (HAE1) (C1 esterase inhibitor, deficiency of) |
| Angioedema, hereditary, type II (HAE2) | |
| Complement component 4 (C4), partial deficiency of | |
| SERPINH1 | Osteogenesis imperfecta, type X (OI10) |
| Preterm premature rupture of the membranes, susceptibility to (PPROM) | |
| SETBP1 | Leukemia, acute T-cell lymphoblastic |
| Schinzel-Giedion midface retraction syndrome (SGS) | |
| SHOX+del | Langer mesomelic dysplasia (LMD) (Dyschondosteosis, homozygous) |
| Leri-Weill dyschondrosteosis (LWD) (Dyschondrosteosis (DCO)) | |
| Short stature, idiopathic, X-linked (ISS) | |
| SIX6 | Microphthalmia, isolated, with cataract 2 (MCOPCT2) |
| SKI | Shprintzen-Goldberg craniosynostosis syndrome (SGS) (Craniosynostosis with arachnodyctyly and abdominal hernias) |
| SLC5A2+del | Renal glucosuria (GLYS1) |
| SLC6A8+del | Cerebral creatine deficiency syndrome 1 (CCDS1) |
| SLC16A2 (=MCT8)+del | Allan-Herndon-Dudley syndrome (AHDS) (Monocarboxylate transporter 8 (MCT8) deficiency) (T3 resistance) (Mental retardation, X-linked, with hypotonia) |
| SLC26A2 (=DTDST) | Achondrogenesis Ib (ACG1B) |
| Atelosteogenesis II (AO2) | |
| De la Chapelle dysplasia (DLCD) | |
| Diastrophic dysplasia (DTD) | |
| Diastrophic dysplasia, broad bone-platyspondylic variant (DTDB) | |
| Epiphyseal dysplasia, multiple, 4 (EDM4) | |
| SLC34A1 | Fanconi renotubular syndrome 2 (FRTS2) |
| Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (NPHLOP1) | |
| SLC34A3+del | Hypophosphatemic rickets with hypercalciuria (HHRH) |
| SLC46A1 | Folate malabsorption, hereditary (HFM) |
| SMAD3 | Loeys-Dietz syndrome, type 3 (LDS3) (Aneurysms-osteoarthritis syndrome) |
| SMAD4 | Colorectal cancer (CRC) |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT) | |
| Myhre syndrome (MYHRS) (Growth-mental deficiency syndrome of Myhre) | |
| Pancreatic cancer (PNCA) | |
| Polyposis, juvenile intestinal (PJI) | |
| SMARCA4 | Rhabdoid tumor predisposition syndrome 2 (RTPS2) |
| SMARCB1 (=INI1)+del | Rhabdoid predisposition syndrome 1 (RPS1) |
| Rhabdoid tumor (RDT) (Teratoid tumor, atypical) | |
| Schwannomatosis (Neurofibromatosis type 3 (NF3)) | |
| SMC1A (=SMC1L1)+del+dup | Cornelia de Lange syndrome type 2 (CDLS2) |
| SMC3 | Cornelia de Lange syndrome type 3 (CDLS3) |
| SNAI2+del | Piebald trait (PBT) (= Piebaldism) |
| Waardenburg syndrome, type 2D (WS2D) | |
| SOS1 | Fibromatosis, gingival, 1 (GINGF1) |
| Noonan syndrome 4 (NS4) | |
| SOST | Craniodiaphyseal dysplasia, autosomal dominant (CDD) |
| Sclerosteosis 1 (SOST1) (Hyperostosis, cortical, with syndactyly) | |
| Van Buchem disease (VBCH) (Hyperostosis corticalis generalis) | |
| SOTOS (offiz. NSD1)+del | Beckwith-Wiedemann syndrome (BWS) |
| Leukemia, acute myeloid (AML) | |
| Sotos syndrome (SOTOSS) | |
| Weaver syndrome (WES) | |
| SOX2+del | Microphthalmia, syndromic 3 (MCOPS3) |
| Optic nerve hypoplasia and abnormalities of the central nervous system | |
| SP7 | Osteogenesis imperfecta, type XII (OI12) |
| SPAST | Spastic paraplegia 4, autosomal dominant |
| SPG7 (=PGN)+del | Spastic paraplegia 7, autosomal recessive (SPG7) |
| SPINK5 | Atopy |
| Netherton syndrome (NETH) (= NS = Netherton disease) | |
| SRCAP | Floating-Harbor syndrome (FLHS) |
| SRP72 | Bone marrow failure, familial (BMFF) |
| SRY | 46,XX sex reversal 1 (SRXX1) (46,XX Gonadal dysgenesis, complete, SRY-positive) |
| 46,XY sex reversal 1 (SRXY1) (46,XY Gonadal dysgenesis, complete, SRY-related) | |
| 46,XY True hermaphroditism, SRY-related | |
| 46;XX True hermaphroditism, SRY-positive (Ovotesticular disorder of sex development) | |
| Swyer syndrome (46, XY Gonadal dysgenesis, complete) | |
| STK11 | Lung cancer, non-small cell (NSCLC) |
| Melanoma, malignant sporadic | |
| Pancreatic cancer, sporadic | |
| Peutz-Jeghers syndrome (PJS) (Polyposis, hamartomatous intestinal) | |
| Testicular tumor, sporadic | |
| SUFU+del | Medulloblastoma, desmoplastic (MDB, desmoplastic) |
| Gen | Krankheit |
| TAC3 | Hypogonadotropic hypogonadism |
| TACR3 | Hypogonadotropic hypogonadism |
| TBX5+del+dup | Holt-Oram syndrome (HOS) (Heart-hand syndrome) (Atriodigital dysplasia) |
| TBX6+dup | Spondylocostal dysostosis, autosomal dominant (SCDO) |
| TBX15 | Cousin syndrome (COUSS) (Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature) (Pelviscapular dysplasia) |
| TBX18 | anterior and posterior somite compartments, maintains the separation of |
| otic fibrocyte differentiation, role in | |
| posterior pole of the heart, role in formation of posterior pole of the | |
| ureter, role in formation of | |
| vertebral column, role in formation of | |
| TCAB1 (offiz. WRAP53) | Dyskeratosis congenita, autosomal recessive 3 |
| TCOF1+del | Hemifacial microsomia (HFM) (Goldenhar syndrome) (Oculoauriculovertebral dysplasia (OAVD)) |
| Treacher Collins syndrome 1 (TCS1) | |
| TCTN3 | Joubert syndrome 18 (JBTS18) |
| Orofaciodigital syndrome IV (OFD4) (Mohr-Majewski syndrome) | |
| TEM8 (offiz. ANTXR1) | Hemangioma, capillary infantile, susceptibility to |
| TERC | Aplastic anemia, susceptibility to (AA) |
| Dyskeratosis congenita, autosomal dominant 1 | |
| Pulmonary fibrosis, idiopathic, susceptibility to (IPF) | |
| TERT | Bone marrow failure, telomere-related, 1 |
| Coronary artery disease | |
| Dyskeratosis congenita, autosomal dominant 2 | |
| Dyskeratosis congenita, autosomal recessive 4 | |
| Leukemia, acute myeloid | |
| Melanoma, cutaneous malignant, 9 | |
| Pulmonary fibrosis, telomere-related, 1 | |
| TGFB2+del | Loeys-Dietz syndrome, type 4 (LDS4) |
| TGFBR1+dup | Loeys-Dietz syndrome, type 1A (LDS1A) (Furlong syndrome) |
| Loeys-Dietz syndrome, type 2A (LDS2A) (Aortic aneurysm, familial thoracic 5 (AAT5)) | |
| Multiple self-healing squamous epithelioma, susceptiblity to (MSSE) | |
| TGFBR2 | Colorectal cancer, hereditary nonpolyposis, type 6 (HNPCC6) |
| Esophageal cancer, somatic | |
| Loeys-Dietz syndrome, type 1B (LDS1B) | |
| Loeys-Dietz syndrome, type 2B (LDS2B) (Aortic aneurysm, familial thoracic 3 (AAT3)) | |
| THRB | Thyroid hormone resistance, generalized, autosomal dominant (GRTH = GTHR) |
| Thyroid hormone resistance, generalized, autosomal recessive (GRTH) (Refetoff syndrome) | |
| Thyroid hormone resistance, selective pituitary (PRTH) | |
| TINF2 | Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) |
| TINF2 | Revesz syndrome (exudative retinopathy with bone marrow failure (ERBMF)) |
| TMEM38B+del | Osteogenesis imperfecta, autosomal recessive |
| TNFRSF11B (=OPG) | Paget disease, juvenile (JPD) (Hyperphosphatasia, chronic congenital idiopathic) |
| TNNI2 | Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B) |
| TNNI3 | Cardiomyopathy, dilated, 1FF |
| Cardiomyopathy, dilated, 2A | |
| Cardiomyopathy, familial hypertrophic, 7 | |
| Cardiomyopathy, familial restrictive | |
| TNNT3 | Arthyrgryposis, distal, type 2B (DA2B) (= Arthrogryposis multiplex congenita, distal, type 2B (AMCD2B)) (Sheldon-Hall syndrome (SHS)) |
| TNSALP (offiz. ALPL)+del | Hypophosphatasia (HOPS), adult, childhood, infantile or perinatal lethal |
| Odontohypophosphatasia | |
| TP63 (=p63) | ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome |
| Cervical cancer | |
| Colon cancer | |
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | |
| Hay-Wells syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome) | |
| Head cancer | |
| Limb-mammary syndrome (LMS) | |
| Lung cancer | |
| Neck cancer | |
| Orofacial cleft 8 (OFC8) | |
| Ovarian cancer | |
| Rapp-Hodgkin syndrome (RHS) (Ectodermal dysplasia, anhidrotic, with cleft lip/palate) | |
| Split-hand/foot malformation 4 (SHFM4) | |
| TPM1 | Cardiomyopathy, dilated, 1Y (CMD1Y) |
| Cardiomyopathy, familial hypertrophic, 3 (CMH3) | |
| TPM2 | Arthrogryposis, distal, type 1A (DA1A) (Arthrogryposis multiplex congenita, distal, type 1 (AMCD1)) |
| Arthrogryposis, distal, type 2B (DA2B) (Sheldon-Hall syndrome (SHS)) | |
| Nemaline myopathy 4 (NEM4) | |
| TRAPPC2 (= SEDLIN)+del | Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) |
| TRIP11 | Achondrogenesis, type IA (ACG1A) (Achondrogenesis, Houston-Harris type) |
| Leukemia, acute myelogenous | |
| TRPS1+del | Trichorhinophalangeal syndrome, type I (TRPS1) |
| Trichorhinophalangeal syndrome, type III (TRPS3) (Sugio-Kajii syndrome) | |
| TRPS1del | Trichorhinophalangeal syndrome, type II (TRPS2) (Langer-Giedion syndrome (LGS)) (Chromosome 8q24.1 deletion syndrome) |
| TRPS2+del (offiz. EXT1) | Chondrosarcoma (CHDSA) |
| Exostoses, multiple, type 1 (EXT1) (=Osteochondromas, multiple) | |
| Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2)) | |
| TRPV4 | Brachyolmia type 3 (BRAC3) |
| Hereditary motor and sensory neuropathy, type IIc (HMSN2C) | |
| Metatropic dysplasia (MTD) | |
| Parastremmatic dwarfism (PSTD) | |
| Scapuloperoneal spinal muscular atrophy (SPSMA) | |
| Spondyloepiphyseal dysplasia (SED), Maroteaux type (SEDM) (Pseudo-Morquio syndrome, type 2) | |
| Sodium serum level QTL 1 (SSQTL1) (Hyponatremia) | |
| Spinal muscular atrophy, distal, congenital nonprogressive (DSMAC) | |
| Spondylometaphyseal dysplasia (SMD), Kozlowski type (SMDK) | |
| TSC1+del | Focal cortical dysplasia of Taylor (FCDT) |
| Focal cortical dysplasia of Taylor, type IIA | |
| Lymphangioleiomyomatosis (LAM) (Lymphangiomatosis) | |
| Tuberous sclerosis-1 (TSC1) | |
| TSC2+del | Lymphangioleiomyomatosis, somatic |
| Tuberous sclerosis-2 (TSC2) | |
| TSPY1 (=TSPY) | Gonadoblastoma (GBY) |
| TWIST1+del | Craniosynostosis, type 1 (CRS1) |
| Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III (ACS3)) | |
| Saethre-Chotzen syndrome with eyelid anomalies (Blepharophimosis, epicanthus inversus, and ptosis 3 (BPE3), formerly) | |
| Scaphocephaly (Oxycephaly) |
| Gen | Krankheit | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| UBE3A+del | Angelman syndrome (AS) (happy puppet syndrome, formerly) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| USB1 (=C16orf57) | Poikiloderma with neutropenia (PN) (Poikiloderma with neutropenia, Clericuzio-type) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| VAX1 | Anophthalmia | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microphthalmia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| VEGFA | Microvascular complications of diabetes, susceptibility to, 1 (MVCD1) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| VHL+del | Erythrocytosis, familial, 2 (ECYT2) (Polycythemia, Chuvash type) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hemangioblastoma, cerebellar, somatic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pheochromocytoma | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal cell carcinoma, somatic (RCC) (Hypernephroma) (Adrenocarcinoma of kidney) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| von Hippel-Lindau syndrome (VHLS) (von Hippel-Lindau disease (VHLD)) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| VLCAD (offiz. ACADVL) | Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WDR34 | Asphyxiating thoracic dystrophy (Jeune syndrome) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WDR35+del | Cranioectodermal dysplasia 2 (CED2) (Sensenbrenner syndrome) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short rib-polydactyly syndrome, type V (SRPS5) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WDR60 | Short rib-polydactyly syndrome, type VI (SRPS6) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WFS1+del | Diabetes mellitus, noninsulin-dependent (NIDDM), association with | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness, autosomal dominant 6/14/38 (DFNA6/14/38) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wolfram syndrome 1 (WFS1) (Diabetes insipidus and mellitus with optic atrophy and deafness (DIDMOAD)) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wolfram-like syndrome, autosomal dominant (WFSL) (Hearing loss, progressive, with optic atrophy and/or impaired glucose regulation) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WISP3 | Arthropathy, progressive pseudorheumatoid, of childhood (PPAC) (Progressive pseudorheumatoid dysplasia (PPD)) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WNT1 | Osteogenesis imperfecta | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WNT4 | Mullerian aplasia and hyperandrogenism (MULLAPL) (Mullerian duct failure and hyperandrogenism) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| SERKAL syndrome (46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL)) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WNT7A | Fuhrmann syndrome (FUHRS) (Fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactyly) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ulna and fibula, absence of, with severe limb deficiency (Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS)) (Al-Awadi/Raas-Rothschild syndrome (AARRS)) (Schinzel phocomelia syndrome) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WNT10A | Ectodermal dysplasia, hypohidrotic/anhidrotic | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Odontoonychodermal dysplasia (OODD) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Schopf-Schulz-Passarge syndrome (SSPS) (Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Succedaneous teeth, agenesis of | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tooth agenesis, selective, 4 (STHAG4) (Lateral incisors, pegged or missing) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WNT10B | Split-hand/foot malformation 6 (SHFM6) (Ectrodactyly, autosomal recessive) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WRAP53 (= TCAB1) | Dyskeratosis congenita, autosomal recessive 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WT1+del | Denys-Drash syndrome (DDS) (Nephropathy, Wilms tumor, and genital anomalities) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Desmoplastic small round cell tumor (DSRCT) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Frasier syndrome (FS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Meacham syndrome (MEACHS) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mesothelioma, somatic (MESOM) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrotic syndrome, type 4 (NPHS4) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome (Chromosome 11p13 deletion syndrome) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Wilms tumor, type 1 (WT1) (Nephroblastoma) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| XPB (offiz. ERCC3) | Ichthyosiform erythroderma with hair abnormality and mental and growth retardation (Tay syndrome) |