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 |
|---|---|---|---|---|---|
| H00272 | マルチプルスルファターゼ欠損症 | Multiple sulfatase deficiency (MSD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of sulfatase modifying factor 1 (SUMF1), which posttranslationally activates lysosomal ... | 先天性代謝異常症, ライソゾーム病 | SUMF1 [HSA:285362] [KO:K13444] | |
| H00273 | 濃化異骨症 | Pycnodysostosis is an autosomal recessive skeletal disorder caused by deficiency of cathepsin K in the metabolism of the skeletal system, causing defects in bone resorption and bone remodeling. Pycnodysostosis ... | 先天性代謝異常症, ライソゾーム病 | CTSK [HSA:1513] [KO:K01371] | |
| H00274 | パピヨン・ルフェブル症候群 | Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its ... | 先天性代謝異常症, ライソゾーム病 | CTSC [HSA:1075] [KO:K01275] | |
| H00275 | シスチン症 | Cystinosis is an autosomal recessive lysosomal storage disorder caused by deficiency of lysosomal cystine transporter, which leads to intracellular cystine crystals, widespread cellular destruction, renal ... | 先天性代謝異常症, ライソゾーム病 | CTNS [HSA:1497] [KO:K12386] | |
| H00276 |
ガラクトシアリドーシス ノイラミダーゼ欠損および β-ガラクトシダーゼ欠損症 |
Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase [DS:H00281] and alpha-neuraminidase ... | 先天性代謝異常症, ライソゾーム病 | CTSA [HSA:5476] [KO:K13289] | |
| H00277 | 腸管出血性大腸菌感染症 | Enterohemorrhagic Escherichia coli (EHEC) infection is typically contracted through consumption of contaminated food or contact with contaminated water, animal feces or infected animals. EHEC is also referred ... | 細菌感染症 | hsa05130 Pathogenic Escherichia coli infection | |
| H00278 | 腸管病原性大腸菌感染症 | Enteropathogenic Escherichia coli (EPEC) was the first pathotype of E. coli identified in the 1940s, and remains a common cause of infantile diarrhea in developing countries. EPEC and EHEC [DS:H00277] ... | 細菌感染症 | hsa05130 Pathogenic Escherichia coli infection | |
| H00279 | 尿路病原性大腸菌感染症 | Uropathogenic Escherichia coli (UPEC) infection is a prevalent infectious disease with potentially severe complications. UPEC, the most common etiological agent of community-acquired urinary tract infections ... | 細菌感染症 | ||
| H00280 | 腸管毒素原性大腸菌感染症 | Enterotoxigenic Escherichia coli (ETEC) infection is one of the main causes of infantile diarrhea in developing countries and an important etiologic agent for traveler's diarrhea. ETEC strains colonize ... | 細菌感染症 | ||
| H00281 | GM1 ガングリオシドーシス | GM1-gangliosidosis (GM1G) is an autosomal recessive lysosomal storage disorder caused by deficient beta-galactosidase activity. The enzymatic defect results in the accumulation of GM1 ganglioside in nervous ... | 先天性代謝異常症, ライソゾーム病 | GLB1 [HSA:2720] [KO:K12309] | |
| H00282 | クリオピリン関連周期熱症候群 | Cryopyrin associated periodic syndrome (CAPS) arise from mutations in the NLRP3 gene that encodes cryopyrin. These are autosomal dominant inherited diseases characterized by recurrent inflammatory episodes ... | 免疫系疾患 | NLRP3 [HSA:114548] [KO:K12800] | |
| H00283 |
エボラ出血熱 エボラ病 |
Ebola disease, also known as Ebola hemorrhagic fever, is a deadly infectious disease caused by ebolaviruses within the genus Ebolavirus in the family Filoviridae of -ssRNA viruses. Four ebolavirus are ... | ウイルス感染症 | ||
| H00284 | クリミア・コンゴ出血熱 | Crimean-Congo hemorrhagic fever is an often fatal infectious disease caused by Crimean-Congo hemorrhagic fever virus (CCHFV), an orthonairovirus in the order Bunyavirales of -ssRNA viruses, and transmitted ... | ウイルス感染症 | ||
| H00285 |
ブラウ症候群 若年性サルコイドーシス |
Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and ... | 免疫系疾患 | NOD2 [HSA:64127] [KO:K10165] | |
| H00286 | クローン病 | Crohn disease is a chronic, relapsing inflammatory bowel disease (IBD) characterized by granulomatous inflammation, primarily localized to the terminal ileum. Most patients have involvement of the small ... | 免疫系疾患 |
(IBD1) NOD2 [HSA:64127] [KO:K10165] (IBD1) IL6 [HSA:3569] [KO:K05405] (IBD10) ATG16L1 [HSA:55054] [KO:K17890] (IBD17) IL23R [HSA:149233] [KO:K05065] (IBD19) IRGM [HSA:345611] [KO:K14139] (IBD25) IL10RB [HSA:3588] [KO:K05135] (IBD28) IL10RA [HSA:3587] [KO:K05134] |
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| H00287 | 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autoimflammatory disease with early onset, developing erosive arthritis. It is inherited in an autosomal dominant fashion ... | 免疫系疾患 | PSTPIP1 [HSA:9051] [KO:K12804] | |
| H00288 | 家族性地中海熱 | Familial Mediterranean fever (FMF) is the most prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an ... | 免疫系疾患 | MEFV [HSA:4210] [KO:K12803] | |
| H00289 | 反復性胞状奇胎 | Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is ... | 生殖器系疾患 |
(HYDM) NALP7 [HSA:199713] [KO:K20864] (HYDM2) KHDC3L [HSA:154288] [KO:K25076] (HYDM3) MEI1 [HSA:150365] [KO:K25318] (HYDM4) C11orf80 [HSA:79703] [KO:K24789] |
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| H00290 | エカルディ・グティエール症候群 | Aicardi-Goutieres Syndrome (AGS) is an autosomal recessive encephalopathy characterized by basal ganglia and white matter calcification in the presence of chronic cerebrospinal fluid lymphocytosis, and ... | 免疫系疾患 |
(AGS1) TREX1 [HSA:11277] [KO:K10790] (AGS2) RNASEH2B [HSA:79621] [KO:K10744] (AGS3) RNASEH2C [HSA:84153] [KO:K10745] (AGS4) RNASEH2A [HSA:10535] [KO:K10743] (AGS5) SAMHD1 [HSA:25939] [KO:K22544] (AGS6) ADAR [HSA:103] [KO:K12968] (AGS7) IFIH1 [HSA:64135] [KO:K12647] (AGS8) LSM11 [HSA:134353] [KO:K25592] (AGS9) RNU7-1 [HSA:100147744] [KO:K28308] |
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| H00291 | 家族性凍傷状狼瘡 | Familial chilblain lupus (FCL) is a rare, inherited form of cutaneous lupus with prominent skin manifestations in acral parts of the body. Two families with autosomal dominant-inherited chilblain lupus ... | 免疫系疾患 |
(CHBL1) TREX1 [HSA:11277] [KO:K10790] (CHBL2) SAMHD1 [HSA:25939] [KO:K22544] |
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| H00292 | 肥大型心筋症 | Hypertrophic cardiomyopathy (HCM/CMH) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features ... | 循環器系疾患 | hsa05410 Hypertrophic cardiomyopathy |
(CMH1) MYH7 [HSA:4625] [KO:K17751] (CMH1) MYLK2 [HSA:85366] [KO:K00907] (CMH1) CAV3 [HSA:859] [KO:K12959] (CMH2) TNNT2 [HSA:7139] [KO:K12045] (CMH3) TPM1 [HSA:7168] [KO:K10373] (CMH4) MYBPC3 [HSA:4607] [KO:K12568] (CMH6) PRKAG2 [HSA:51422] [KO:K07200] (CMH7) TNNI3 [HSA:7137] [KO:K12044] (CMH8) MYL3 [HSA:4634] [KO:K12749] (CMH9) TTN [HSA:7273] [KO:K12567] (CMH10) MYL2 [HSA:4633] [KO:K10351] (CMH11) ACTC1 [HSA:70] [KO:K12314] (CMH12) CSRP3 [HSA:8048] [KO:K09377] (CMH13) TNNC1 [HSA:7134] [KO:K05865] (CMH14) MYH6 [HSA:4624] [KO:K17751] (CMH15) VCL [HSA:7414] [KO:K05700] (CMH16) MYOZ2 [HSA:51778] [KO:K26050] (CMH17) JPH2 [HSA:57158] [KO:K19530] (CMH18) PLN [HSA:5350] [KO:K05852] (CMH20) NEXN [HSA:91624] [KO:K23918] (CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028] (CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073] (CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867] (CMH25) TCAP [HSA:8557] [KO:K19879] (CMH26) FLNC [HSA:2318] [KO:K27393] (CMH27) ALPK3 [HSA:57538] [KO:K08868] (CMH28) FHOD3 [HSA:80206] [KO:K23939] (CMH29) KLHL24 [HSA:54800] [KO:K10461] (CMH30) CORIN [HSA:10699] [KO:K09614] (CMH31) TRIM63 [HSA:84676] [KO:K10655] |
| H00293 | 不整脈源性右室心筋症 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive ... | 循環器系疾患 | hsa05412 Arrhythmogenic right ventricular cardiomyopathy |
(ARVD1) TGFB3 [HSA:7043] [KO:K13377] (ARVD2) RYR2 [HSA:6262] [KO:K04962] (ARVD5) TMEM43 [HSA:79188] [KO:K27488] (ARVD8) DSP [HSA:1832] [KO:K10381] (ARVD9) PKP2 [HSA:5318] [KO:K12642] (ARVD10) DSG2 [HSA:1829] [KO:K07597] (ARVD11) DSC2 [HSA:1824] [KO:K07601] (ARVD12) JUP [HSA:3728] [KO:K10056] (ARVD13) CTNNA3 [HSA:29119] [KO:K05691] (ARVD14) CDH2 [HSA:1000] [KO:K06736] |
| H00294 | 拡張型心筋症 | Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death ... | 循環器系疾患 | hsa05414 Dilated cardiomyopathy |
(CMD1A/DCM-HH) LMNA [HSA:4000] [KO:K12641] (CMD1C/CMD2L) LDB3 [HSA:11155] [KO:K19867] (CMD1D) TNNT2 [HSA:7139] [KO:K12045] (CMD1E) SCN5A [HSA:6331] [KO:K04838] (CMD1G) TTN [HSA:7273] [KO:K12567] (CMD1I) DES [HSA:1674] [KO:K07610] (CMD1J) EYA4 [HSA:2070] [KO:K17622] (CMD1L) SGCD [HSA:6444] [KO:K12563] (CMD1M) CSRP3 [HSA:8048] [KO:K09377] (CMD1N) TCAP [HSA:8557] [KO:K19879] (CMD1O) ABCC9 [HSA:10060] [KO:K05033] (CMD1P) PLN [HSA:5350] [KO:K05852] (CMD1R) ACTC1 [HSA:70] [KO:K12314] (CMD1S) MYH7 [HSA:4625] [KO:K17751] (CMD1U) PSEN1 [HSA:5663] [KO:K04505] (CMD1V) PSEN2 [HSA:5664] [KO:K04522] (CMD1W) VCL [HSA:7414] [KO:K05700] (CMD1X) FKTN [HSA:2218] [KO:K19872] (CMD1Y) TPM1 [HSA:7168] [KO:K10373] (CMD1Z) TNNC1 [HSA:7134] [KO:K05865] (CMD1AA) ACTN2 [HSA:88] [KO:K21073] (CMD1BB) DSG2 [HSA:1829] [KO:K07597] (CMD1CC/CMD2M) NEXN [HSA:91624] [KO:K23918] (CMD1DD) RBM20 [HSA:282996] [KO:K24052] (CMD1EE) MYH6 [HSA:4624] [KO:K17751] (CMD1FF/CMD2A) TNNI3 [HSA:7137] [KO:K12044] (CMD1GG) SDHA [HSA:6389] [KO:K00234] (CMD1HH) BAG3 [HSA:9531] [KO:K09557] (CMD1II) CRYAB [HSA:1410] [KO:K09542] (CMD1JJ) LAMA4 [HSA:3910] [KO:K06241] (CMD1KK) MYPN [HSA:84665] [KO:K22028] (CMD1LL) PRDM16 [HSA:63976] [KO:K22410] (CMD1MM) MYBPC3 [HSA:4607] [KO:K12568] (CMD1NN) RAF1 [HSA:5894] [KO:K04366] (CMD1OO) VEZF1 [HSA:7716] [KO:K26610] (CMD1QQ) C10orf71 [HSA:118461] [KO:K28413] (CMD2B) GATAD1 [HSA:57798] [KO:K23407] (CMD2C) PPCS [HSA:79717] [KO:K01922] (CMD2D) RPL3L [HSA:6123] [KO:K02925] (CMD2E) JPH2 [HSA:57158] [KO:K19530] (CMD2F) BAG5 [HSA:9529] [KO:K09559] (CMD2G) LMOD2 [HSA:442721] [KO:K22030] (CMD2H) GET3 [HSA:439] [KO:K01551] (CMD2I) CAP2 [HSA:10486] [KO:K17261] (CMD2J) FLII [HSA:2314] [KO:K27496] (CMD2K) MYZAP [HSA:100820829] [KO:K22031] (CMD3B) DMD [HSA:1756] [KO:K10366] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DPA1 [HSA:3113] [KO:K06752] HLA-DPB1 [HSA:3115] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] |
| H00295 | ウイルス性心筋炎 | Myocarditis is clinically defined as cardiac disease associated with inflammation of the myocardium and necrosis and/or degeneration of adjacent myocytes in the absence of an ischemic event. Most often ... | 循環器系疾患 | hsa05416 Viral myocarditis | |
| H00296 | RecQヘリカーゼ欠損症 | RecQ helicases have crucial roles in the maintenance of genome stability. In humans, it is known that deficiencies in four of the five human RecQ helicases cause genetic disorders characterized by cancer ... | 先天奇形 |
(BS) BLM [HSA:641] [KO:K10901] (WS) WRN [HSA:7486] [KO:K10900] (RTS2/RAPADILINO/BGS) RECQL4 [HSA:9401] [KO:K10730] (RECON) RECQL [HSA:5965] [KO:K10899] |
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| H00297 | ペスト | Plague is a deadly infectious disease caused by Yersinia pestis. The pathogen has rodent reservoirs and is transmitted to humans usually by fleas as vectors. There are three major manifestations: bubonic ... | 細菌感染症 | ||
| H00298 | エルシニア感染症 | Yersiniosis (non-plague) is an infectious disease caused by two species, Yersinia enterocolitica and Y. pseudotuberculosis, which is zoonotic, capable of being transmitted from infected animals to man ... | 細菌感染症 | hsa05135 Yersinia infection | |
| H00299 | 細菌性赤痢 | Shigellosis (bacillary dysentery) is a foodborne enterobacterial infection caused by Shigella species. There are four subgroups of Shigella: S. dysenteriae, S. flexneri, S. boydii, and S. sonnei. Of these ... | 細菌感染症 | hsa05131 Shigellosis | |
| H00300 | エンテロバクター感染症 | Enterobacter infections are commonly found in nosocomial settings and Enterobacter spp. have been recognized as increasingly important pathogens. They are intrinsically resistant to aminopenicillins, cefazolin ... | 細菌感染症 | ||
| H00301 | クレブシェラ感染症 | Klebsiella is a gram-negative bacterium of Enterobacteriaceae, which has emerged as an important cause of hospital-acquired infections. Infections caused by extended-spectrum beta-lactamase (ESBL)-producing ... | 細菌感染症 |