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Entry | Name | Description | Category | Pathway | Gene |
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H00536 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) | CADASIL is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the ... | Congenital malformation | NOTCH3 [HSA:4854] [KO:K20995] | |
H00540 |
Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) Ectodermal dysplasia and immunodeficiency 1 (EDAID1) Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema |
... lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency', abbreviated as OLEDAID, is caused by termination codon mutations in the NEMO gene which encodes the essential modulator of NF-kappa B. | Congenital malformation | IKBKG [HSA:8517] [KO:K07210] | |
H00541 | Autosomal dominant tubulointerstitial kidney disease | Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is a broad term that encompasses a group of largely monosystemic disorders characterized by renal tubular and interstitial abnormalities, leading ... | Urinary system disease |
(ADTKD1) UMOD [HSA:7369] [KO:K18274] (ADTKD2) MUC1 [HSA:4582] [KO:K06568] (ADTKD3) HNF1B [HSA:6928] [KO:K08034] (ADTKD4) REN [HSA:5972] [KO:K01380] (ADTKD5) SEC61A1 [HSA:29927] [KO:K10956] |
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H00543 | Renal-hepatic-pancreatic dysplasia | Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations cause the disorder. | Congenital malformation |
(RHPD1) NPHP3 [HSA:27031] [KO:K19360] (RHPD2) NEK8 [HSA:284086] [KO:K20877] |
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H00552 | Chromosome Xp21 deletion syndrome | ... hyperglycerolemia and glyceroluria. This disease is an Xp21 contiguous gene syndrome involving the glycerol kinase locus together with X-linked Addison disease (AHX) or Duchenne muscular dystrophy (DMD) loci or ... | Chromosomal abnormality | ||
H00554 |
Aortic valve disease Bicuspid aortic valve |
... also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital heart lesions. The bicuspid ... | Congenital malformation |
(AOVD1) NOTCH1 [HSA:4851] [KO:K02599] (AOVD2) SMAD6 [HSA:4091] [KO:K04677] (AOVD3) ROBO4 [HSA:54538] [KO:K06784] |
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H00555 | Char syndrome | Char syndrome is a rare autosomal dominant disorder characterized by a combination of three major features: typical facial features, patent ductus arteriosus, and hypoplasia of the middle phalanges of ... | Congenital malformation | TFAP2B [HSA:7021] [KO:K09176] | |
H00559 | von Hippel-Lindau syndrome | von Hippel-Lindau syndrome is an autosomal dominant disorder associated with tumors in the central nervous system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas ... | Congenital malformation |
VHL [HSA:7428] [KO:K03871] CCND1 [HSA:595] [KO:K04503] |
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H00563 | Emery-Dreifuss muscular dystrophy | ... have been associated to EDMD phenotypes, that can be inherited following an X-linked, autosomal dominant or autosomal recessive pattern of inheritance. Most of genes known to be associated with EDMD are ... | Nervous system disease; Musculoskeletal disease |
(EDMD1) EMD [HSA:2010] [KO:K12569] (EDMD2 EDMD3) LMNA [HSA:4000] [KO:K12641] (EDMD4) SYNE1 [HSA:23345] [KO:K19326] (EDMD5) SYNE2 [HSA:23224] [KO:K19346] (EDMD6) FHL1 [HSA:2273] [KO:K14365] (EDMD7) TMEM43 [HSA:79188] [KO:K27488] |
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H00564 | Primary ciliary dyskinesia | ... internal organ positioning, which is caused by dysfunctional nodal cilia in early developmental stage, occur in approximately 50% of PCD patients and this combination is referred as Kartagener syndrome. | Respiratory system disease |
(CILD1) DNAI1 [HSA:27019] [KO:K10409] (CILD2) DNAAF3 [HSA:352909] [KO:K19752] (CILD3) DNAH5 [HSA:1767] [KO:K10408] (CILD5) HYDIN [HSA:54768] [KO:K17570] (CILD6) NME8 [HSA:51314] [KO:K19868] (CILD7) DNAH11 [HSA:8701] [KO:K10408] (CILD9) DNAI2 [HSA:64446] [KO:K11143] (CILD10) DNAAF2 [HSA:55172] [KO:K19751] (CILD11) RSPH4A [HSA:345895] [KO:K19756] (CILD12) RSPH9 [HSA:221421] [KO:K19757] (CILD13) DNAAF1 [HSA:123872] [KO:K19750] (CILD14) CCDC39 [HSA:339829] [KO:K23729] (CILD15) CCDC40 [HSA:55036] [KO:K23730] (CILD16) DNAL1 [HSA:83544] [KO:K10411] (CILD17) CCDC103 [HSA:388389] [KO:K23731] (CILD18) DNAAF5 [HSA:54919] [KO:K19759] (CILD19) DNAAF11 [HSA:23639] [KO:K19753] (CILD20) ODAD1 [HSA:93233] [KO:K23732] (CILD21) DRC1 [HSA:92749] [KO:K19754] (CILD22) ZMYND10 [HSA:51364] [KO:K24030] (CILD23) ODAD2 [HSA:55130] [KO:K24125] (CILD24) RSPH1 [HSA:89765] [KO:K19755] (CILD25) DNAAF4 [HSA:161582] [KO:K19758] (CILD26) CFAP298 [HSA:56683] [KO:K24229] (CILD27) CCDC65 [HSA:85478] [KO:K23728] (CILD28) SPAG1 [HSA:6674] [KO:K19870] (CILD29) CCNO [HSA:10309] [KO:K10861] (CILD30) ODAD3 [HSA:115948] [KO:K23733] (CILD32) RSPH3 [HSA:83861] [KO:K23965] (CILD33) GAS8 [HSA:2622] [KO:K19942] (CILD34) DNAJB13 [HSA:374407] [KO:K09519] (CILD35) ODAD4 [HSA:83538] [KO:K24254] (CILD36) DNAAF6 [HSA:139212] [KO:K24253] (CILD37) DNAH1 [HSA:25981] [KO:K10408] (CILD38) CFAP300 [HSA:85016] [KO:K24230] (CILD39) LRRC56 [HSA:115399] [KO:K25425] (CILD40) DNAH9 [HSA:1770] [KO:K10408] (CILD41) GAS2L2 [HSA:246176] [KO:K24627] (CILD42) MCIDAS [HSA:345643] [KO:K26119] (CILD43) FOXJ1 [HSA:2302] [KO:K09402] (CILD44) NEK10 [HSA:152110] [KO:K20879] (CILD45) TTC12 [HSA:54970] [KO:K24652] (CILD46) STK36 [HSA:27148] [KO:K06228] (CILD47) TP73 [HSA:7161] [KO:K10148] (CILD48) NME5 [HSA:8382] [KO:K20790] (CILD49) CFAP74 [HSA:85452] [KO:K25607] (CILD50) DNAH7 [HSA:56171] [KO:K10408] (CILD51) BRWD1 [HSA:54014] [KO:K11798] (CILD52) DAW1 [HSA:164781] [KO:K19760] (CILD53) CLXN [HSA:79645] [KO:K27179] |
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H00568 | Myotonic dystrophy | ... weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. It has an autosomal dominant mode of inheritance and disease severity generally correlates with repeat length. | Nervous system disease; Musculoskeletal disease |
(DM1) DMPK [HSA:1760] [KO:K08788] (DM2) CNBP [HSA:7555] [KO:K09250] |
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H00570 | Kabuki syndrome | ... (KABUK), is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the ... | Congenital malformation |
(KABUK1) KMT2D [HSA:8085] [KO:K09187] (KABUK2) KDM6A [HSA:7403] [KO:K11447] |
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H00573 | Townes-Brocks syndrome | Townes-Brocks syndrome (TBS) is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal ... | Congenital malformation |
(TBS1) SALL1 [HSA:6299] [KO:K19871] (TBS2) DACT1 [HSA:51339] [KO:K22154] |
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H00576 | Pierson syndrome | Pierson syndrome is an autosomal recessive disease characterized by congenital nephrotic syndrome, bilateral microcoria, and neurological abnormalities. The nephrotic syndrome progresses to end-stage renal ... | Urinary system disease | LAMB2 [HSA:3913] [KO:K06243] | |
H00578 | Epstein syndrome | Epstein syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. It is linked to mutations in MYH9, the nonmuscle ... | Cardiovascular disease | MYH9 [HSA:4627] [KO:K10352] | |
H00579 | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) | ... COL4A1 in basement membranes. The renal manifestations include hematuria and bilateral renal cysts. In affected individuals, retinal arteriolar tortuosity and intracranial aneurysms are commonly observed. | Congenital malformation | COL4A1 [HSA:1282] [KO:K06237] | |
H00581 | Alport syndrome | ... collagen chains. The mode of inheritance is either X-linked or autosomal recessive, although autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from ... | Congenital malformation |
(ATS1) COL4A5 [HSA:1287] [KO:K06237] (ATS2) COL4A4 [HSA:1286] [KO:K06237] (ATS3A_3B) COL4A3 [HSA:1285] [KO:K06237] |
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H00582 |
Benign familial hematuria Thin basement membrane nephropathy |
Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function ... | Urinary system disease |
(BFH1) COL4A4 [HSA:1286] [KO:K06237] (BFH2) COL4A3 [HSA:1285] [KO:K06237] |
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H00583 | Opitz-GBBB syndrome | ... disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB syndrome with cleft lip, palate and mental retardation ... | Congenital malformation |
(GBBB1) MID1 [HSA:4281] [KO:K08285] (GBBB2) SPECC1L [HSA:23384] [KO:K23028] |
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H00586 | Epidermolysis bullosa, junctional | ... junctional forms of epidermolysis bullosa (JEB) are characterized by blister formation within the lamina lucida of the dermal-epidermal basement membrane. Herlitz subtype, the classic form of the disease ... | Congenital malformation |
(JEB1A/1B) LAMB3 [HSA:3914] [KO:K06244] (JEB2A/2B/2C) LAMA3 [HSA:3909] [KO:K06240] (JEB3A/3B) LAMC2 [HSA:3918] [KO:K06246] (JEB4) COL17A1 [HSA:1308] [KO:K07603] (JEB5A/5B) ITGB4 [HSA:3691] [KO:K06525] (JEB6) ITGA6 [HSA:3655] [KO:K06485] (JEB7) ITGA3 [HSA:3675] [KO:K06482] |
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H00587 | Epidermolysis bullosa, dystrophica | ... epidermolysis bullosa, in which tissue separation occurs in the dermis, are inherited in either autosomal dominant or autosomal recessive pattern. In the most severe subtype of recessive dystrophic epidermolysis ... | Congenital malformation | COL7A1 [HSA:1294] [KO:K16628] | |
H00589 | Familial exudative vitreoretinopathy | Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of ... | Nervous system disease |
(EVR1) FZD4 [HSA:8322] [KO:K02354] (EVR2) NDP [HSA:4693] [KO:K25688] (EVR4) LRP5 [HSA:4041] [KO:K03068] (EVR5) TSPAN12 [HSA:23554] [KO:K17355] (EVR6) ZNF408 [HSA:79797] [KO:K24372] (EVR7) CTNNB1 [HSA:1499] [KO:K02105] |
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H00591 | Facioscapulohumeral muscular dystrophy | Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially ... | Nervous system disease; Musculoskeletal disease |
(FSHD1) FRG1 [HSA:2483] [KO:K13122] (FSHD2) SMCHD1 [HSA:23347] [KO:K23113] (FSHD3) LRIF1 [HSA:55791] [KO:K23220] (FSHD4) DNMT3B [HSA:1789] [KO:K17399] |
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H00592 |
Calpainopathy Limb-girdle muscular dystrophy 2A |
... muscle weakness and atrophy of the shoulder and pelvic girdle musculature, an elevated serum creatine kinase activity and a degeneration/regeneration pattern in muscular biopsy samples. Recently, families ... | Nervous system disease; Musculoskeletal disease | (LGMDR1/LGMDD4) CAPN3 [HSA:825] [KO:K08573] | |
H00593 | Limb-girdle muscular dystrophy | ... varying from early childhood to late adulthood. The primary distinction is between the autosomal dominant (LGMDD) and the autosomal recessive forms (LGMDR). According to the disease mechanisms, the LGMDs ... | Nervous system disease; Musculoskeletal disease |
(LGMDD1) DNAJB6 [HSA:10049] [KO:K09512] (LGMDD2) TNPO3 [HSA:23534] [KO:K15436] (LGMDD3) HNRNPDL [HSA:9987] [KO:K13044] (LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573] (LGMDR2) DYSF [HSA:8291] [KO:K18261] (LGMDR3) SGCA [HSA:6442] [KO:K12565] (LGMDR4) SGCB [HSA:6443] [KO:K12566] (LGMDR5) SGCG [HSA:6445] [KO:K12564] (LGMDR6) SGCD [HSA:6444] [KO:K12563] (LGMDR7) TCAP [HSA:8557] [KO:K19879] (LGMDR8) TRIM32 [HSA:22954] [KO:K10607] (LGMDR9) FKRP [HSA:79147] [KO:K19873] (LGMDR10) TTN [HSA:7273] [KO:K12567] (LGMDR11) POMT1 [HSA:10585] [KO:K00728] (LGMDR12) ANO5 [HSA:203859] [KO:K19480] (LGMDR13) FKTN [HSA:2218] [KO:K19872] (LGMDR14) POMT2 [HSA:29954] [KO:K00728] (LGMDR15) POMGNT1 [HSA:55624] [KO:K09666] (LGMDR16) DAG1 [HSA:1605] [KO:K06265] (LGMDR17) PLEC [HSA:5339] [KO:K10388] (LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308] (LGMDR19) GMPPB [HSA:29925] [KO:K00966] (LGMDR20) CRPPA [HSA:729920] [KO:K21031] (LGMDR21) POGLUT1 [HSA:56983] [KO:K13667] (LGMDR23) LAMA2 [HSA:3908] [KO:K05637] (LGMDR24) POMGNT2 [HSA:84892] [KO:K18207] (LGMDR25) BVES [HSA:11149] [KO:K21108] (LGMDR26) POPDC3 [HSA:64208] [KO:K26207] (LGMDR27) JAG2 [HSA:3714] [KO:K21635] (LGMDR28) HMGCR [HSA:3156] [KO:K00021] (MDRCMTT) LIMS2 [HSA:55679] [KO:K23354] (MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001] |
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H00596 |
Nonaka myopathy (NM) Nonaka distal myopathy Hereditary inclusion body myopathy (HIBM) |
... progressive myopathy secondary to mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene that encodes a bifunctional enzyme which catalyzes the rate-limiting step in sialic ... | Nervous system disease; Musculoskeletal disease | GNE [HSA:10020] [KO:K12409] | |
H00600 |
Mullerian agenesis Mayer Rokitansky Kuster Hauser syndrome |
... agenesis, also known as Mayer Rokitansky Kuster Hauser (MRKH) syndrome, is characterized by utero-vaginal atresia in an otherwise phenotypically normal female with a normal 46,XX karyotype. It has been ... | Reproductive system disease | WNT4 [HSA:54361] [KO:K00408] | |
H00602 |
Glucocorticoid-remediable aldosteronism (GRA) Familial hyperaldosteronism type I |
Glucocorticoid-remediable aldosteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and increased aldosterone ... | Endocrine and metabolic disease |
CYP11B1 [HSA:1584] [KO:K00497] CYP11B2 [HSA:1585] [KO:K07433] |
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H00603 | Hypertension exacerbated in pregnancy | ... exacerbated by pregnancy" is a syndrome similar to Apparent mineralocorticoid excess (AME) with autosomal dominant early-onset hypertension. The affected individuals have a gain of function mutation in the human ... | Cardiovascular disease | NR3C2 [HSA:4306] [KO:K08555] | |
H00604 | Deafness, autosomal dominant | ... heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing ... | Nervous system disease |
(DFNA1) DIAPH1 [HSA:1729] [KO:K05740] (DFNA2A) KCNQ4 [HSA:9132] [KO:K04929] (DFNA2B) GJB3 [HSA:2707] [KO:K07622] (DFNA3A) GJB2 [HSA:2706] [KO:K07621] (DFNA3B) GJB6 [HSA:10804] [KO:K07625] (DFNA4A) MYH14 [HSA:79784] [KO:K10352] (DFNA4B) CEACAM16 [HSA:388551] [KO:K06499] (DFNA5) GSDME [HSA:1687] [KO:K22146] (DFNA6/14/38) WFS1 [HSA:7466] [KO:K14020] (DFNA7) LMX1A [HSA:4009] [KO:K09371] (DFNA8/12) TECTA [HSA:7007] [KO:K18273] (DFNA9) COCH [HSA:1690] [KO:K23574] (DFNA10) EYA4 [HSA:2070] [KO:K17622] (DFNA11) MYO7A [HSA:4647] [KO:K10359] (DFNA13) COL11A2 [HSA:1302] [KO:K19721] (DFNA15) POU4F3 [HSA:5459] [KO:K09366] (DFNA17) MYH9 [HSA:4627] [KO:K10352] (DFNA20/26) ACTG1 [HSA:71] [KO:K05692] (DFNA22) MYO6 [HSA:4646] [KO:K10358] (DFNA23) SIX1 [HSA:6495] [KO:K15614] (DFNA25) SLC17A8 [HSA:246213] [KO:K12302] (DFNA27) REST [HSA:5978] [KO:K09222] (DFNA28) GRHL2 [HSA:79977] [KO:K09275] (DFNA34) NLRP3 [HSA:114548] [KO:K12800] (DFNA36) TMC1 [HSA:117531] [KO:K21988] (DFNA37) COL11A1 [HSA:1301] [KO:K19721] (DFNA39) DSPP [HSA:1834] [KO:K23573] (DFNA40) CRYM [HSA:1428] [KO:K18258] (DFNA41) P2RX2 [HSA:22953] [KO:K05216] (DFNA44) CCDC50 [HSA:152137] [KO:K25949] (DFNA50) MIR96 [HSA:407053] [KO:K17114] (DFNA56) TNC [HSA:3371] [KO:K06252] (DFNA64) DIABLO [HSA:56616] [KO:K10522] (DFNA65) TBC1D24 [HSA:57465] [KO:K21841] (DFNA66) CD164 [HSA:8763] [KO:K06546] (DFNA67) OSBPL2 [HSA:9885] [KO:K20174] (DFNA68) HOMER2 [HSA:9455] [KO:K15010] (DFNA69) KITLG [HSA:4254] [KO:K05461] (DFNA70) MCM2 [HSA:4171] [KO:K02540] (DFNA71) DMXL2 [HSA:23312] [KO:K24155] (DFNA72) SLC44A4 [HSA:80736] [KO:K15377] (DFNA73) PTPRQ [HSA:374462] [KO:K16910] (DFNA74) PDE1C [HSA:5137] [KO:K13755] (DFNA75) TRRAP [HSA:8295] [KO:K08874] (DFNA76) PLS1 [HSA:5357] [KO:K17275] (DFNA77) ABCC1 [HSA:4363] [KO:K05665] (DFNA78) SLC12A2 [HSA:6558] [KO:K10951] (DFNA79) SCD5 [HSA:79966] [KO:K00507] (DFNA80) GREB1L [HSA:80000] [KO:K27478] (DFNA81) ELMOD3 [HSA:84173] [KO:K23538] (DFNA82) ATP2B2 [HSA:491] [KO:K05850] (DFNA83) MAP1B [HSA:4131] [KO:K10429] (DFNA84) ATP11A [HSA:23250] [KO:K26934] (DFNA85) USP48 [HSA:84196] [KO:K11858] (DFNA86) THOC1 [HSA:9984] [KO:K12878] (DFNA87) PI4KB [HSA:5298] [KO:K19801] (DFNA88) EPHA10 [HSA:284656] [KO:K08897] (DFNA89) ATOH1 [HSA:474] [KO:K09083] (DFNA90) MYO3A [HSA:53904] [KO:K08834] |
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H00605 | Deafness, autosomal recessive | ... heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal- dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing ... | Nervous system disease |
(DFNB1A) GJB2 [HSA:2706] [KO:K07621] (DFNB1A) GJB3 [HSA:2707] [KO:K07622] (DFNB1B) GJB6 [HSA:10804] [KO:K07625] (DFNB2) MYO7A [HSA:4647] [KO:K10359] (DFNB3) MYO15A [HSA:51168] [KO:K10361] (DFNB4) SLC26A4 [HSA:5172] [KO:K14702] (DFNB4) FOXI1 [HSA:2299] [KO:K09401] (DFNB4) KCNJ10 [HSA:3766] [KO:K05003] (DFNB6) TMIE [HSA:259236] [KO:K23907] (DFNB7/11) TMC1 [HSA:117531] [KO:K21988] (DFNB8/10) TMPRSS3 [HSA:64699] [KO:K09634] (DFNB9) OTOF [HSA:9381] [KO:K19949] (DFNB12) CDH23 [HSA:64072] [KO:K06813] (DFNB12) ATP2B2 [HSA:491] [KO:K05850] (DFNB15) GIPC3 [HSA:126326] [KO:K20056] (DFNB16) STRC [HSA:161497] [KO:K24636] (DFNB18A) USH1C [HSA:10083] [KO:K21877] (DFNB18B) OTOG [HSA:340990] [KO:K25030] (DFNB21) TECTA [HSA:7007] [KO:K18273] (DFNB22) OTOA [HSA:146183] [KO:K25029] (DFNB23) PCDH15 [HSA:65217] [KO:K16500] (DFNB24) RDX [HSA:5962] [KO:K05762] (DFNB25) GRXCR1 [HSA:389207] [KO:K17479] (DFNB26) GAB1 [HSA:2549] [KO:K09593] (DFNB26) METTL13 [HSA:51603] [KO:K25166] (DFNB28) TRIOBP [HSA:11078] [KO:K23751] (DFNB29) CLDN14 [HSA:23562] [KO:K06087] (DFNB30) MYO3A [HSA:53904] [KO:K08834] (DFNB31) WHRN [HSA:25861] [KO:K21879] (DFNB32) CDC14A [HSA:8556] [KO:K06639] (DFNB35) ESRRB [HSA:2103] [KO:K08553] (DFNB36) ESPN [HSA:83715] [KO:K24047] (DFNB37) MYO6 [HSA:4646] [KO:K10358] (DFNB39) HGF [HSA:3082] [KO:K05460] (DFNB42) ILDR1 [HSA:286676] [KO:K25781] (DFNB44) ADCY1 [HSA:107] [KO:K08041] (DFNB48) CIB2 [HSA:10518] [KO:K23837] (DFNB49) MARVELD2 [HSA:153562] [KO:K17291] (DFNB53) COL11A2 [HSA:1302] [KO:K19721] (DFNB57) PDZD7 [HSA:79955] [KO:K21882] (DFNB59) PJVK [HSA:494513] [KO:K22147] (DFNB61) SLC26A5 [HSA:375611] [KO:K14703] (DFNB63) LRTOMT [HSA:220074] [KO:K00545] (DFNB66) DCDC2 [HSA:51473] [KO:K23405] (DFNB67) LHFPL5 [HSA:222662] [KO:K23893] (DFNB68) S1PR2 [HSA:9294] [KO:K04292] (DFNB70) PNPT1 [HSA:87178] [KO:K00962] (DFNB74) MSRB3 [HSA:253827] [KO:K07305] (DFNB76) SYNE4 [HSA:163183] [KO:K23401] (DFNB77) LOXHD1 [HSA:125336] [KO:K24822] (DFNB79) TPRN [HSA:286262] [KO:K24164] (DFNB82) GPSM2 [HSA:29899] [KO:K15837] (DFNB84A) PTPRQ [HSA:374462] [KO:K16910] (DFNB84B) OTOGL [HSA:283310] [KO:K25030] (DFNB86) TBC1D24 [HSA:57465] [KO:K21841] (DFNB88) ELMOD3 [HSA:84173] [KO:K23538] (DFNB89) KARS1 [HSA:3735] [KO:K04567] (DFNB91) SERPINB6 [HSA:5269] [KO:K13963] (DFNB93) CABP2 [HSA:51475] [KO:K23531] (DFNB94) NARS2 [HSA:79731] [KO:K01893] (DFNB97) MET [HSA:4233] [KO:K05099] (DFNB98) TSPEAR [HSA:54084] [KO:K24437] (DFNB99) TMEM132E [HSA:124842] [KO:K17599] (DFNB100) PPIP5K2 [HSA:23262] [KO:K13024] (DFNB101) GRXCR2 [HSA:643226] [KO:K24294] (DFNB102) EPS8 [HSA:2059] [KO:K17277] (DFNB103) CLIC5 [HSA:53405] [KO:K05025] (DFNB104) RIPOR2 [HSA:9750] [KO:K24818] (DFNB106) EPS8L2 [HSA:64787] [KO:K17277] (DFNB107) WBP2 [HSA:23558] [KO:K22524] (DFNB108) ROR1 [HSA:4919] [KO:K05122] (DFNB109) ESRP1 [HSA:54845] [KO:K14947] (DFNB110) COCH [HSA:1690] [KO:K23574] (DFNB111) MPZL2 [HSA:10205] [KO:K27316] (DFNB112) BDP1 [HSA:55814] [KO:K15198] (DFNB113) CEACAM16 [HSA:388551] [KO:K06499] (DFNB114) GRAP [HSA:10750] [KO:K23694] (DFNB115) SPNS2 [HSA:124976] [KO:K23677] (DFNB116) CLDN9 [HSA:9080] [KO:K06087] (DFNB117) CLRN2 [HSA:645104] [KO:K23841] (DFNB119) SPATA5L1 [HSA:79029] [KO:K26051] (DFNB120) MINAR2 [HSA:100127206] [KO:K24830] (DFNB121) GPR156 [HSA:165829] [KO:K04617] (DFNB122) TMTC4 [HSA:84899] [KO:K23424] (DFNB123) STX4 [HSA:6810] [KO:K13502] (DFNB124) PKHD1L1 [HSA:93035] [KO:K27624] |
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H00607 | 46,XY gonadal dysgenesis | ... undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified. | Reproductive system disease |
(SRXY1) SRY [HSA:6736] [KO:K09266] (SRXY2) NR0B1 [HSA:190] [KO:K08562] (SRXY3) NR5A1 [HSA:2516] [KO:K08560] (SRXY5) CBX2 [HSA:84733] [KO:K11451] (SRXY6) MAP3K1 [HSA:4214] [KO:K04416] (SRXY7) DHH [HSA:50846] [KO:K11990] (SRXY8) AKR1C2 [HSA:1646] [KO:K00089] (SRXY8) AKR1C4 [HSA:1109] [KO:K00037] (SRXY9) ZFPM2 [HSA:23414] [KO:K17442] (SRXY11) DHX37 [HSA:57647] [KO:K14780] (FS/DDS) WT1 [HSA:7490] [KO:K09234] |
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H00610 | Treacher Collins syndrome | ... (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive ... | Ribosomopathy |
(TCS1) TCOF1 [HSA:6949] [KO:K14562] (TCS2) POLR1D [HSA:9533] [KO:K03027] (TCS3) POLR1C [HSA:51082] [KO:K03020] (TCS4) POLR1B [HSA:84172] [KO:K03002] |
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H00611 | Popliteal pterygium syndrome (PPS) | Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing ... | Congenital malformation | IRF6 [HSA:3664] [KO:K10154] | |
H00612 |
Primary open angle glaucoma Glaucoma 1 |
... blindness. POAG is often accompanied by ocular hypertension and characterized by progressive loss of retinal ganglion cells, atrophy of the optic nerve, and visual field loss. To date, at least 20 genetic ... | Nervous system disease |
(GLC1A) MYOC [HSA:4653] [KO:K23027] (GLC1E) OPTN [HSA:10133] [KO:K19946] (GLC1F) ASB10 [HSA:136371] [KO:K10332] (GLC1G) WDR36 [HSA:134430] [KO:K14554] (GLC1O) NTF4 [HSA:4909] [KO:K12457] |
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H00618 | Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism | ... characterized by enamel defects and enlarged pulp chambers. Unlike its allelic disorder trichodentoosseous dysplasia, AIHHT patients do not show hair and bone abnormalities. AIHHT is an autosomal dominant trait. | Congenital malformation | DLX3 [HSA:1747] [KO:K09315] | |
H00619 | Kenny-Caffey syndrome | ... Recurrent bacterial infections are common in patients with KCS. KCS is mostly inherited as an autosomal dominant trait. Recently, mutations in the FAM111A gene has been identified. Autosomal recessive cases have ... | Congenital malformation |
TBCE [HSA:6905] [KO:K21768] FAM111A [HSA:63901] [KO:K24274] |
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H00620 | Axenfeld-Rieger syndrome | Axenfeld-Rieger syndrome (RIEG) is a rare autosomal dominant disorder mainly affecting the anterior segment of the eyes congenitally. The ocular features include malformations of aniridia, coloboma of ... | Congenital malformation |
(RIEG1) PITX2 [HSA:5308] [KO:K04686] (RIEG3) FOXC1 [HSA:2296] [KO:K09396] |
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H00625 |
Tooth agenesis Hypodontia |
... oral epithelium and underlying mesenchyme. Perturbation of this process results in tooth agenesis. This disease could be inherited as either an autosomal dominant, autosomal recessive, or X-linked trait. | Congenital malformation |
(STHAG1) MSX1 [HSA:4487] [KO:K09341] (STHAG3) PAX9 [HSA:5083] [KO:K09382] (STHAG4) WNT10A [HSA:80326] [KO:K01357] (STHAG7) LRP6 [HSA:4040] [KO:K03068] (STHAG8) WNT10B [HSA:7480] [KO:K01357] (STHAG9) GREM2 [HSA:64388] [KO:K23318] (STHAG10) TSPEAR [HSA:54084] [KO:K24437] (STHAGX1) EDA [HSA:1896] [KO:K05480] (DASS) LTBP3 [HSA:4054] [KO:K08023] |
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H00626 | Focal segmental glomerulosclerosis | Focal segmental glomerulosclerosis (FSGS) is one of the most common forms of glomerular disorders leading to end stage kidney disease (ESKD). FSGS is defined as a clinicopathologic syndrome manifesting ... | Urinary system disease |
(FSGS1) ACTN4 [HSA:81] [KO:K05699] (FSGS2) TRPC6 [HSA:7225] [KO:K04969] (FSGS3) CD2AP [HSA:23607] [KO:K13738] (FSGS4) APOL1 [HSA:8542] [KO:K23585] (FSGS5) INF2 [HSA:64423] [KO:K23958] (FSGS6) MYO1E [HSA:4643] [KO:K10356] (FSGS7) PAX2 [HSA:5076] [KO:K15608] (FSGS8) ANLN [HSA:54443] [KO:K18621] (FSGS9) CRB2 [HSA:286204] [KO:K16681] (FSGS10) LMX1B [HSA:4010] [KO:K09371] (FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001] |
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