KEGG MEDICUS 疾患情報

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エントリ 名称 概要 カテゴリ パスウェイ 病因遺伝子
H00409 2型糖尿病 Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... 内分泌代謝疾患 hsa04930 Type II diabetes mellitus (T2D1) CAPN10 [HSA:11132] [KO:K08579]
(T2D5) TBC1D4 [HSA:9882] [KO:K17902]
IGF2BP2 [HSA:10644] [KO:K17392]
SLC30A8 [HSA:169026] [KO:K14695]
KCNJ11 [HSA:3767] [KO:K05004]
MTNR1B [HSA:4544] [KO:K04286]
ENPP1 [HSA:5167] [KO:K01513]
PPARG [HSA:5468] [KO:K08530]
HNF1B [HSA:6928] [KO:K08034]
TCF7L2 [HSA:6934] [KO:K04491]
WFS1 [HSA:7466] [KO:K14020]
PAX4 [HSA:5078] [KO:K08032]
HNF1B [HSA:6928] [KO:K08034]
AKT2 [HSA:208] [KO:K04456]
ABCC8 [HSA:6833] [KO:K05032]
GCK [HSA:2645] [KO:K12407]
NEUROD1 [HSA:4760] [KO:K08033]
GPD2 [HSA:2820] [KO:K00111]
IRS1 [HSA:3667] [KO:K16172]
PPP1R3A [HSA:5506] [KO:K07189]
HNF4A [HSA:3172] [KO:K07292]
H00604 遺伝性難聴 (常染色体優性) Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... 神経系疾患 (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]
(DFNA21) RIPOR2 [HSA:9750] [KO:K24818]
(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]
(DFNA91) ESPN [HSA:83715] [KO:K24047]
H00854 ウォルフラム症候群 Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 ... 内分泌代謝疾患 (WFS1/WFSL) WFS1 [HSA:7466] [KO:K14020]
(WFS2) CISD2 [HSA:493856] [KO:K23882]
H00917 先天性赤血球形成異常性貧血
先天性赤血球生成不全性貧血
先天性赤血球異形成貧血 		Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Non-erythroid ... 血液疾患 (CDAN1A) CDAN1 [HSA:146059] [KO:K19531]
(CDAN1B) CDIN1 [HSA:84529] [KO:K24865]
(CDAN2) SEC23B [HSA:10483] [KO:K14006]
(CDAN3A) KIF23 [HSA:9493] [KO:K17387]
(CDAN3B) RACGAP1 [HSA:29127] [KO:K16733]
(CDAN4A/4B) KLF1 [HSA:10661] [KO:K09204]
H01105 頭蓋-レンズ-縫合異形成 Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by ... 先天奇形 SEC23A [HSA:10484] [KO:K14006]
H01174 先天性下痢症 Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours ... 消化器系疾患 (DIAR1) SLC26A3 [HSA:1811] [KO:K14078]
(DIAR2/MVID1) MYO5B [HSA:4645] [KO:K10357]
(DIAR3) SPINT2 [HSA:10653] [KO:K23421]
(DIAR4) NEUROG3 [HSA:50674] [KO:K08028]
(DIAR5) EPCAM [HSA:4072] [KO:K06737]
(DIAR6) GUCY2C [HSA:2984] [KO:K12320]
(DIAR7) DGAT1 [HSA:8694] [KO:K11155]
(DIAR8) SLC9A3 [HSA:6550] [KO:K12040]
(DIAR9) WNT2B [HSA:7482] [KO:K00182]
(DIAR10) PLVAP [HSA:83483] [KO:K17309]
(DIAR11) PERCC1 [HSA:105371045] [KO:K28457]
(DIAR12/MVID2) STX3 [HSA:6809] [KO:K08486]
(DIAR13) ACSL5 [HSA:51703] [KO:K01897]
(DIAR14) GRWD1 [HSA:83743] [KO:K14848]
(DIAR15) MYO1A [HSA:4640] [KO:K10356]
H01202 白内障 Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can ... 神経系疾患 (CTRCT1) GJA8 [HSA:2703] [KO:K07617]
(CTRCT2) CRYGC [HSA:1420] [KO:K23483]
(CTRCT3) CRYBB2 [HSA:1415] [KO:K23482]
(CTRCT4) CRYGD [HSA:1421] [KO:K23483]
(CTRCT5) HSF4 [HSA:3299] [KO:K09417]
(CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
(CTRCT9) CRYAA [HSA:1409] [KO:K09541]
(CTRCT10) CRYBA1 [HSA:1411] [KO:K23482]
(CTRCT11) PITX3 [HSA:5309] [KO:K09357]
(CTRCT12) BFSP2 [HSA:8419] [KO:K10379]
(CTRCT13) GCNT2 [HSA:2651] [KO:K00742]
(CTRCT14) GJA3 [HSA:2700] [KO:K07612]
(CTRCT15) MIP [HSA:4284] [KO:K09863]
(CTRCT16) CRYAB [HSA:1410] [KO:K09542]
(CTRCT17) CRYBB1 [HSA:1414] [KO:K23482]
(CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
(CTRCT19) LIM2 [HSA:3982] [KO:K24190]
(CTRCT20) CRYGS [HSA:1427] [KO:K23483]
(CTRCT21) MAF [HSA:4094] [KO:K09035]
(CTRCT22) CRYBB3 [HSA:1417] [KO:K23482]
(CTRCT23) CRYBA4 [HSA:1413] [KO:K23482]
(CTRCT30) VIM [HSA:7431] [KO:K07606]
(CTRCT31) CHMP4B [HSA:128866] [KO:K12194]
(CTRCT33) BFSP1 [HSA:631] [KO:K10378]
(CTRCT34) FOXE3 [HSA:2301] [KO:K09398]
(CTRCT36) TDRD7 [HSA:23424] [KO:K18405]
(CTRCT38) AGK [HSA:55750] [KO:K09881]
(CTRCT39) CRYGB [HSA:1419] [KO:K23483]
(CTRCT40) NHS [HSA:4810] [KO:K24144]
(CTRCT41) WFS1 [HSA:7466] [KO:K14020]
(CTRCT42) CRYBA2 [HSA:1412] [KO:K23482]
(CTRCT43) UNC45B [HSA:146862] [KO:K21991]
(CTRCT44) LSS [HSA:4047] [KO:K01852]
(CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
(CTRCT46) LEMD2 [HSA:221496] [KO:K24080]
(CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
(CTRCT48) DNMBP [HSA:23268] [KO:K20705]
(CTRCT49) PANK4 [HSA:55229] [KO:K24265]
(CTRCT50) TRPM3 [HSA:80036] [KO:K04978]
H01222 カウデン症候群 Cowden syndrome (CS) is an autosomal dominant inherited cancer syndrome characterized by benign and malignant breast, thyroid, and endometrial neoplasias in addition to cutaneous findings and macrocephaly ... 先天奇形 (CWS1) PTEN [HSA:5728] [KO:K01110]
(CWS2) SDHB [HSA:6390] [KO:K00235]
(CWS3) SDHD [HSA:6392] [KO:K00237]
(CWS4) KLLN [HSA:100144748] [KO:K23389]
(CWS5) PIK3CA [HSA:5290] [KO:K00922]
(CWS6) AKT1 [HSA:207] [KO:K04456]
(CWS7) SEC23B [HSA:10483] [KO:K14006]
H01247 ピリドキシン依存性てんかん Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive epileptic encephalopathy characterized by a therapeutic response to pharmacological dosages of pyridoxine hydrochloride (vitamin B6) and resistance ... 神経系疾患 ALDH7A1 [HSA:501] [KO:K14085]
H01284 マリネスコ・シェーグレン症候群 Marinesco-Sjogren syndrome is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia, progressive myopathy and cataracts. Mutations in the endoplasmic reticulum associated ... 神経系疾患 SIL1 [HSA:64374] [KO:K14001]
H01572 Cole-Carpenter 症候群 Cole-Carpenter syndrome (CLCRP) is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. CLCRP ... 先天奇形 (CLCRP1) P4HB [HSA:5034] [KO:K09580]
(CLCRP2) SEC24D [HSA:9871] [KO:K14007]
H01705 若年発症型両側性感音難聴
突発性両側性感音難聴 		Bilateral sudden sensorineural hearing loss (SNHL) represents a rare disease entity, constituting less than 5 % of all sudden SNHL cases. Unlike unilateral disease, bilateral sudden SNHL appears to be ... 神経系疾患 ACTG1 [HSA:71] [KO:K05692]
CDH23 [HSA:64072] [KO:K06813]
COCH [HSA:1690] [KO:K23574]
KCNQ4 [HSA:9132] [KO:K04929]
TECTA [HSA:7007] [KO:K18273]
TMPRSS3 [HSA:64699] [KO:K09634]
WFS1 [HSA:7466] [KO:K14020]
EYA4 [HSA:2070] [KO:K17622]
MYO6 [HSA:4646] [KO:K10358]
MYO15A [HSA:51168] [KO:K10361]
POU4F3 [HSA:5459] [KO:K09366]
H02287 難聴、ジストニアおよび脳ミエリン形成不全症 Deafness, dystonia, and cerebral hypomyelination (DDCH) is a severe X-linked syndrome, characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes. ... 先天奇形 BCAP31 [HSA:10134] [KO:K14009]
H02330 膵リパーゼ欠損症 Congenital pancreatic lipase deficiency is a rare autosomal recessive exocrine pancreatic failure characterized by decreased absorption of dietary fat and greasy voluminous stools, but apparent normal ... 先天性代謝異常症 PNLIP [HSA:5406] [KO:K14073]
H02461 小頭症を伴う神経発達障害 Neurodevelopmental disorder (NED) with microcephaly is a group of syndromic neurodevelopmental disorders. Most of them have complications in addition to microcephaly. Several underlying genetic causes ... 先天奇形 (NEDMEBA) TRAPPC6B [HSA:122553] [KO:K20304]
(NDMSBA) PLAA [HSA:9373] [KO:K14018]
(NEDMABA) SMPD4 [HSA:55627] [KO:K12353]
(NEDAHM) SVBP [HSA:374969] [KO:K23357]
(NEDMCMS) TMX2 [HSA:51075] [KO:K25112]
(NEDMEHM) MTHFS [HSA:10588] [KO:K01934]
(NMIHBA) PRUNE1 [HSA:58497] [KO:K01514]
(NEDHYMS) ADARB1 [HSA:104] [KO:K13194]
(NEDSEBA) EXOC7 [HSA:23265] [KO:K07195]
(NEDMISB) EXOC8 [HSA:149371] [KO:K19986]
(NEDSOSB) SEC31A [HSA:22872] [KO:K14005]
(NEDMSC) VPS50 [HSA:55610] [KO:K23288]
(NEDMHS) CPSF3 [HSA:51692] [KO:K14403]
(NEDMIMS) CHKA [HSA:1119] [KO:K14156]
(NEDMISS) TRAPPC10 [HSA:7109] [KO:K20307]
(NEDMVIC) DOHH [HSA:83475] [KO:K06072]
(NEDSMBA) PPFIBP1 [HSA:8496] [KO:K27096]
(NEDMISH) FLVCR1 [HSA:28982] [KO:K08220]
H02535 顔異形を伴う神経発達障害 Neurodevelopmental disorder (NED) with dysmorphic facies is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to dysmorphic facies. Several underlying genetic ... 先天奇形 (NEDFACH) EXOC2 [HSA:55770] [KO:K17637]
(NDCAGF) INTS1 [HSA:26173] [KO:K13138]
(NEDDFAS) EMC10 [HSA:284361] [KO:K23570]
(NEDCAFD) TTC5 [HSA:91875] [KO:K24928]
(CFNDS) CCDC32 [HSA:90416] [KO:K27410]
(CPPRDD) LRRC32 [HSA:2615] [KO:K26316]
(HINCONS) RALA [HSA:5898] [KO:K07834]
(ALKUS) SMG8 [HSA:55181] [KO:K18734]
(NEDFLPH) TMEM147 [HSA:10430] [KO:K26498]
(NEDGFAX) TCEAL1 [HSA:9338] [KO:K26769]
(NEDGFC) FRA10AC1 [HSA:118924] [KO:K13121]
(NEDFBA) SRSF1 [HSA:6426] [KO:K12890]
(NEDGEF) ZNF668 [HSA:79759] [KO:K27106]
(NEDITPO) SMG9 [HSA:56006] [KO:K18735]
(NEDFSAB) CHASERR [HSA:100507217]
(NEDGSAF/NEDHGFA) SEL1L [HSA:6400] [KO:K14026]
(NEDSFB) NAV3 [HSA:89795] [KO:K23919]
(NEDFBS) GTF3C3 [HSA:9330] [KO:K15201]
(NEDSZFB) KLHL20 [HSA:27252] [KO:K10457]
H02696 早期発症型てんかん Early-onset epilepsy (EPEO) is a neurological abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders ... 神経系疾患 (EPEO1) PLPBP [HSA:11212] [KO:K06997]
(EPEO2) SETD1A [HSA:9739] [KO:K11422]
(EPEO3) ATP6V0C [HSA:527] [KO:K02155]
(EPEO4) ALDH7A1 [HSA:501] [KO:K14085]
(EPEO5) CNTN2 [HSA:6900] [KO:K06760]
H03035 Halperin-Birk 症候群 Halperin-Birk syndrome (HLBKS) is a lethal autosomal recessive neurological syndrome characterized by spastic quadriplegia with multiple contractures, profound developmental delay and convulsions. Brain ... 先天奇形 SEC31A [HSA:22872] [KO:K14005]
18 件中 1 〜 18 を表示
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