Molekulargenetisches Labor der Sektion Pädiatrische Genetik
Einverständnisserklärungen
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 |
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Moyamoya disease 5 (MYMY5) |
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Multisystemic smooth muscle dysfunction syndrome |
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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) |
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Ovarian cancer, somatic (OC) |
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Proteus syndrome, somatic (PROTEUSS) |
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Schizophrenia, susceptibility to |
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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)) |
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Colorectal cancer, somatic (CRC) |
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Desmoid disease, hereditary (HDD) |
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Gastric cancer, somatic |
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Hepatoblastoma, somatic |
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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 |
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Lissencephaly, X-linked 2 (LISX2) (Lissencephaly, X-linked, with ambiguous genitalia (XLAG)) |
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Mental retardation, X-linked, with or without seizures, ARX-related (MRXARX) |
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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) |
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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) |
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Colorectal cancer, somatic (CRC) |
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LEOPARD syndrome 3 |
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Melanoma, malignant, somatic |
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Nonsmall cell lung cancer, somatic |
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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) |
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Chondrodysplasia, Grebe type |
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Fibular hypoplasia and complex brachydactyly (Du Pan syndrome (DPS)) |
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Multiple synostoses syndrome 2 (SYNS2) |
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Osteoarthritis susceptibility 5 (OS5) |
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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) |
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Osteogenesis imperfecta type I (OI1) (OI tarda, OI with blue sclerae) |
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Osteogenesis imperfecta type IIA (OI2A) (OI congenita, perinathal lethal form) |
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Osteogenesis imperfecta type III (OI3) (OI, progressively deforming, with normal sclerae) |
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Osteogenesis imperfecta type IV (OI4) (OI with normal sclerae) |
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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) |
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Osteogenesis imperfecta type III (OI3) (OI, progressively deforming, with normal sclerae) |
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Osteogenesis imperfecta type IV (OI4) (OI with normal sclerae) |
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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) |
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Hypochondrogenesis |
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Kniest dysplasia (KD) |
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Legg-Calve-Perthes disease (LCPD; LCP) |
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Osteoarthritis with mild chondrodysplasia (OACD) |
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Otospondylomegaepiphyseal dysplasia (OSMED) (Nance-Sweeney chondrodysplasia) |
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Platyspondylic lethal skeletal dysplasia, Luton type (PLSD-L) |
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Platyspondylic skeletal dysplasia, Torrance type (PLSD-T) |
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rhegmatogenous retinal detachment, autosomal dominant (DRRD) |
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SED, Namaqualand type |
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Spondyloepimetaphyseal dysplasia, Strudwick type (SEMD-STR) |
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Spondyloepiphyseal dysplasia congenita (SEDC) |
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Spondyloperipheral dysplasia (SPD) |
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Stickler sydrome, type I, nonsyndromic ocular (STL1O) |
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Stickler syndrome, type I (STL1) (Stickler syndrome, vitreous type 1) |
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Vitreoretinopathy with phalangeal epiphyseal dysplasia |
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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 |
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Brain small vessel disease with hemorrhage (BSVDH) (infantile hemiparesis) |
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Porencephaly, familial (PCEPH) |
|
COL4A2 |
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps (HANAC) |
Brain small vessel disease with Axenfeld-Rieger anomaly |
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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 |
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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) |
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Otospondylomegaepiphyseal dysplasia (OSMED) |
|
Stickler syndrome, type III (STL3) |
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Weissenbacher-Zweymueller syndrome (WZS) |
|
COMP+del |
Epiphyseal dysplasia, Fairbank type (EDMF) |
Epiphyseal dysplasia, multiple 1 (EDM1) |
|
Epiphyseal dysplasia, Ribbing type (EDMR) |
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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)) |
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Multiple self-healing squamous epithelioma, susceptiblity to (MSSE) |
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TGFBR2 |
Colorectal cancer, hereditary nonpolyposis, type 6 (HNPCC6) |
Esophageal cancer, somatic |
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Loeys-Dietz syndrome, type 1B (LDS1B) |
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Loeys-Dietz syndrome, type 2B (LDS2B) (Aortic aneurysm, familial thoracic 3 (AAT3)) |
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THRB |
Thyroid hormone resistance, generalized, autosomal dominant (GRTH = GTHR) |
Thyroid hormone resistance, generalized, autosomal recessive (GRTH) (Refetoff syndrome) |
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Thyroid hormone resistance, selective pituitary (PRTH) |
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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 |
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Cardiomyopathy, familial hypertrophic, 7 |
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Cardiomyopathy, familial restrictive |
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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 |
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TP63 (=p63) |
ADULT (Acro-dermato-ungual-lacrimal-tooth) syndrome |
Cervical cancer |
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Colon cancer |
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Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) |
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Hay-Wells syndrome (ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome) |
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Head cancer |
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Limb-mammary syndrome (LMS) |
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Lung cancer |
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Neck cancer |
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Orofacial cleft 8 (OFC8) |
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Ovarian cancer |
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Rapp-Hodgkin syndrome (RHS) (Ectodermal dysplasia, anhidrotic, with cleft lip/palate) |
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Split-hand/foot malformation 4 (SHFM4) |
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TPM1 |
Cardiomyopathy, dilated, 1Y (CMD1Y) |
Cardiomyopathy, familial hypertrophic, 3 (CMH3) |
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TPM2 |
Arthrogryposis, distal, type 1A (DA1A) (Arthrogryposis multiplex congenita, distal, type 1 (AMCD1)) |
Arthrogryposis, distal, type 2B (DA2B) (Sheldon-Hall syndrome (SHS)) |
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Nemaline myopathy 4 (NEM4) |
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TRAPPC2 (= SEDLIN)+del |
Spondyloepiphyseal dysplasia tarda, X-linked (SEDT) |
TRIP11 |
Achondrogenesis, type IA (ACG1A) (Achondrogenesis, Houston-Harris type) |
Leukemia, acute myelogenous |
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TRPS1+del |
Trichorhinophalangeal syndrome, type I (TRPS1) |
Trichorhinophalangeal syndrome, type III (TRPS3) (Sugio-Kajii syndrome) |
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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) |
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Langer-Giedion syndrome (LGS) (Trichorhinophalangeal syndrome, type II (TRPS2)) |
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TRPV4 |
Brachyolmia type 3 (BRAC3) |
Hereditary motor and sensory neuropathy, type IIc (HMSN2C) |
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Metatropic dysplasia (MTD) |
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Parastremmatic dwarfism (PSTD) |
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Scapuloperoneal spinal muscular atrophy (SPSMA) |
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Spondyloepiphyseal dysplasia (SED), Maroteaux type (SEDM) (Pseudo-Morquio syndrome, type 2) |
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Sodium serum level QTL 1 (SSQTL1) (Hyponatremia) |
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Spinal muscular atrophy, distal, congenital nonprogressive (DSMAC) |
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Spondylometaphyseal dysplasia (SMD), Kozlowski type (SMDK) |
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TSC1+del |
Focal cortical dysplasia of Taylor (FCDT) |
Focal cortical dysplasia of Taylor, type IIA |
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Lymphangioleiomyomatosis (LAM) (Lymphangiomatosis) |
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Tuberous sclerosis-1 (TSC1) |
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TSC2+del |
Lymphangioleiomyomatosis, somatic |
Tuberous sclerosis-2 (TSC2) |
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TSPY1 (=TSPY) |
Gonadoblastoma (GBY) |
TWIST1+del |
Craniosynostosis, type 1 (CRS1) |
Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III (ACS3)) |
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Saethre-Chotzen syndrome with eyelid anomalies (Blepharophimosis, epicanthus inversus, and ptosis 3 (BPE3), formerly) |
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Scaphocephaly (Oxycephaly) |
Gen |
Krankheit |
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UBE3A+del |
Angelman syndrome (AS) (happy puppet syndrome, formerly) |
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USB1 (=C16orf57) |
Poikiloderma with neutropenia (PN) (Poikiloderma with neutropenia, Clericuzio-type) |
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VAX1 |
Anophthalmia |
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Microphthalmia |
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VEGFA |
Microvascular complications of diabetes, susceptibility to, 1 (MVCD1) |
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VHL+del |
Erythrocytosis, familial, 2 (ECYT2) (Polycythemia, Chuvash type) |
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Hemangioblastoma, cerebellar, somatic |
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Pheochromocytoma |
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Renal cell carcinoma, somatic (RCC) (Hypernephroma) (Adrenocarcinoma of kidney) |
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von Hippel-Lindau syndrome (VHLS) (von Hippel-Lindau disease (VHLD)) |
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VLCAD (offiz. ACADVL) |
Acyl-CoA dehydrogenase very long chain deficiency (ACADVLD) |
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WDR34 |
Asphyxiating thoracic dystrophy (Jeune syndrome) |
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Short rib-polydactyly syndrome, type III (SRPS3) (Verma-Naumoff syndrome) |
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WDR35+del |
Cranioectodermal dysplasia 2 (CED2) (Sensenbrenner syndrome) |
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Short rib-polydactyly syndrome, type V (SRPS5) |
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WDR60 |
Short rib-polydactyly syndrome, type VI (SRPS6) |
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WFS1+del |
Diabetes mellitus, noninsulin-dependent (NIDDM), association with |
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Deafness, autosomal dominant 6/14/38 (DFNA6/14/38) |
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Wolfram syndrome 1 (WFS1) (Diabetes insipidus and mellitus with optic atrophy and deafness (DIDMOAD)) |
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Wolfram-like syndrome, autosomal dominant (WFSL) (Hearing loss, progressive, with optic atrophy and/or impaired glucose regulation) |
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WISP3 |
Arthropathy, progressive pseudorheumatoid, of childhood (PPAC) (Progressive pseudorheumatoid dysplasia (PPD)) |
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WNT1 |
Osteogenesis imperfecta |
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WNT4 |
Mullerian aplasia and hyperandrogenism (MULLAPL) (Mullerian duct failure and hyperandrogenism) |
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SERKAL syndrome (46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL)) |
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WNT7A |
Fuhrmann syndrome (FUHRS) (Fibular aplasia or hypoplasia femoral bowing and poly- syn- and oligodactyly) |
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Ulna and fibula, absence of, with severe limb deficiency (Limb/pelvis-hypoplasia/aplasia syndrome (LPHAS)) (Al-Awadi/Raas-Rothschild syndrome (AARRS)) (Schinzel phocomelia syndrome) |
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WNT10A |
Ectodermal dysplasia, hypohidrotic/anhidrotic |
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Odontoonychodermal dysplasia (OODD) |
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Schopf-Schulz-Passarge syndrome (SSPS) (Keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis) |
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Succedaneous teeth, agenesis of |
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Tooth agenesis, selective, 4 (STHAG4) (Lateral incisors, pegged or missing) |
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WNT10B |
Split-hand/foot malformation 6 (SHFM6) (Ectrodactyly, autosomal recessive) |
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WRAP53 (= TCAB1) |
Dyskeratosis congenita, autosomal recessive 3 |
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WT1+del |
Denys-Drash syndrome (DDS) (Nephropathy, Wilms tumor, and genital anomalities) |
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Desmoplastic small round cell tumor (DSRCT) |
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Frasier syndrome (FS) |
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Meacham syndrome (MEACHS) |
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Mesothelioma, somatic (MESOM) |
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Nephrotic syndrome, type 4 (NPHS4) |
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WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome (Chromosome 11p13 deletion syndrome) |
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Wilms tumor, type 1 (WT1) (Nephroblastoma) |
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XPB (offiz. ERCC3) |
Ichthyosiform erythroderma with hair abnormality and mental and growth retardation (Tay syndrome) |
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Trichothiodystrophy, photosensitive (TTDP) |