KEGG MEDICUS 疾患情報 |
Top |
| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
|---|---|---|---|---|---|
| H02498 | 糖尿病性心筋症 | Diabetic cardiomyopathy has been defined as left ventricular dysfunction that occurs among patients with diabetes mellitus independent of a recognized cause such as coronary artery disease or hypertension ... | 循環器系疾患; 内分泌代謝疾患 | hsa05415 Diabetic cardiomyopathy | |
| H02499 |
AL アミロイド症 免疫グロブリン軽鎖アミロイド症 |
Immunoglobulin light chain (AL) amyloidosis is the most common form of systemic amyloidosis. AL amyloidosis is a disorder of plasma cells or less commonly B cells that produce misfolded immunoglobulin ... | 内分泌代謝疾患 | ||
| H02500 | ネフローゼ症候群と表皮水疱症を伴う先天性間質性肺疾患 | Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa (ILNEB) is a multiorgan disorder caused by mutations in ITGA3. ITGA3 encodes a transmembrane integrin receptor subunit ... | 先天奇形 | ITGA3 [HSA:3675] [KO:K06482] | |
| H02501 | 後頭皮質異形成 | Occipital cortical malformation (OCCM) is an autosomal recessive disorder caused by mutations in LAMC3. OCCM is characterized by thickening and smoothening of the occipital cortex along with polymicrogyria ... | 先天奇形 | LAMC3 [HSA:10319] [KO:K06247] | |
| H02502 | 関節弛緩・低身長および近視 | Joint laxity, short stature, and myopia (JLSM) is a rare autosomal recessive connective-tissue disease caused by mutations in GZF1. JLSM is characterized by severe myopia and significant articular involvement ... | 先天奇形 | GZF1 [HSA:64412] [KO:K22402] | |
| H02503 | Richieri-Costa-Pereira 症候群 | Richieri-Costa-Pereira syndrome (RCPS) is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, and limb anomalies. This disorder is caused by decreased levels ... | 先天奇形 | EIF4A3 [HSA:9775] [KO:K13025] | |
| H02504 | 血小板機能障害を伴う反復性消化性潰瘍 | Gastrointestinal ulceration, recurrent, with dysfunctional platelets (GURDP) is an inherited cytosolic phospholipase A2 (cPLA2) deficiency due to mutations in PLA2G4A. Patients have severe peptic ulcers ... | 消化器系疾患 | PLA2G4A [HSA:5321] [KO:K16342] | |
| H02505 | アテローム性動脈硬化 | Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority ... | 循環器系疾患 | hsa05417 Lipid and atherosclerosis |
LDLR [HSA:3949] [KO:K12473] APOB [HSA:338] [KO:K14462] PCSK9 [HSA:255738] [KO:K13050] LDLRAP1 [HSA:26119] [KO:K12474] ABCG5 [HSA:64240] [KO:K05683] ABCG8 [HSA:64241] [KO:K05684] LCAT [HSA:3931] [KO:K00650] ABCA1 [HSA:19] [KO:K05641] APOA1 [HSA:335] [KO:K08757] MEF2A [HSA:4205] [KO:K09260] LRP6 [HSA:4040] [KO:K03068] |
| H02506 | 心・肢先端・顔面異形成 | Cardioacrofacial dysplasia (CAFD) is a congenital malformation syndrome caused by mutations in PRKACA and PRKACB, that encode the catalytic subunits of protein kinase A. Affected individuals shared an ... | 先天奇形 |
(CAFD1) PRKACA [HSA:5566] [KO:K04345] (CAFD2) PRKACB [HSA:5567] [KO:K04345] |
|
| H02507 | Pilarowski-Bjornsson 症候群 | Pilarowski-Bjornsson syndrome (PILBOS) is a neurodevelopmental disability characterized by autism, speech apraxia, developmental delay and facial dysmorphic features. It has been reported that missense ... | 精神及び行動の障害 | CHD1 [HSA:1105] [KO:K11367] | |
| H02508 | 脳梁、心臓、目および生殖器形成不全症候群 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a multisystemic developmental disorder caused by mutations in CDH2. CDH2 encodes N-cadherin, whose essential roles in neural ... | 先天奇形 | CDH2 [HSA:1000] [KO:K06736] | |
| H02509 | 水疱性口内炎熱 | Vesicular stomatitis fever is an infectious disease caused by Vesicular stomatitis virus (VSV), belonging to the genus Vesiculovirus, within the family Rhabdoviridae and the order Mononegavirales of -ssRNA ... | ウイルス感染症 | ||
| H02510 | 特徴的顔貌、外胚葉異常および四肢不全麻痺を伴う神経発達障害 | Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis (NEDFET) is caused by mutations in GTPBP1 and GTPBP2. They encode GTP-binding proteins 1 and 2, which are ... | 神経系疾患 |
(NEDFET1) GTPBP1 [HSA:9567] [KO:K24887] (NEDFET2/JABELS) GTPBP2 [HSA:54676] [KO:K24888] |
|
| H02511 | ジェームスタウンキャニオン脳炎 | Jamestown Canyon encephalitis is a rare infectious disease characterized by acute fever, meningitis, or meningoencephalitis. It is caused by Jamestown Canyon virus (JCV), a mosquito-borne orthobunyavirus ... | ウイルス感染症 | ||
| H02512 | キャッシュバレーウイルス感染症 | Cache Valley virus infection is an infectious disease caused by Cache Valley virus (CVV), a mosquito-borne orthobunyavirus in the order Bunyavirales of -ssRNA viruses. CVV was first isolated in 1956 from ... | ウイルス感染症 | ||
| H02513 | 眼咽頭遠位型ミオパチー | Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and ... | 筋骨格疾患 |
(OPDM1) LRP12 [HSA:29967] [KO:K20050] (OPDM2) GIPC1 [HSA:10755] [KO:K20056] (OPDM3) NOTCH2NLC [HSA:100996717] [KO:K24466] (OPDM4) RILPL1 [HSA:353116] [KO:K20173] (OPDM5) ABCD3 [HSA:5825] [KO:K05677] |
|
| H02514 | 涙管欠損 | Lacrimal duct defect (LCDD) is a congenital disease characterized by lacrimal duct partial absence or total lacrimal duct absence. LCDD is one of the causes of epiphora in infants and adolescents. Mutations ... | 先天奇形 | IGSF3 [HSA:3321] [KO:K06522] | |
| H02515 | Li-Ghorbani-Weisz-Hubshman 症候群 | Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is an intellectual disability syndrome caused by mutations in KAT8. Patients are with intellectual disability, seizures, autism, dysmorphisms, and other anomalies ... | 先天奇形 | KAT8 [HSA:84148] [KO:K11308] | |
| H02516 | アルコール性肝疾患 | Alcoholic liver disease (ALD) refers to the damages to the liver and its functions due to alcohol overconsumption. It ranges from simple steatosis to steatohepatitis, cirrhosis, and even hepatocellular ... | 消化器系疾患 | hsa04936 Alcoholic liver disease | |
| H02517 | Olmsted 症候群 | Olmsted syndrome (OLMS) is a very rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching. | 先天奇形 |
(OLMS1) TRPV3 [HSA:162514] [KO:K04972] (OLMS2) PERP [HSA:64065] [KO:K10136] (OLMSX) MBTPS2 [HSA:51360] [KO:K07765] |
|
| H02518 | 乳酸アシドーシスと脳奇形を伴う重症新生児脳症 | Neonatal severe encephalopathy with lactic acidosis and brain abnormalities (NELABA) is characterized by neonatal-onset encephalopathy, metabolic features including lactic acidosis, and brain abnormalities ... | 先天性代謝異常症 | LIPT2 [HSA:387787] [KO:K23735] | |
| H02519 | 小脳低形成と大脳皮質形成異常を伴う巨大脳梁症候群 | Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is a neurodevelopmental disorder caused by mutations in MAST1, that encodes a microtubule associated protein | 先天奇形 | MAST1 [HSA:22983] [KO:K08789] | |
| H02520 | ホスホエノールピルビン酸カルボキシキナーゼ欠損症 | Phosphoenolpyruvate carboxykinase deficiency (PCKD) is a rare disorder of gluconeogenesis presenting with recurrent hypoglycemia, hepatic dysfunction, and lactic acidosis. There are two discrete subcellular ... | 先天性代謝異常症 |
(PCKDC) PCK1 [HSA:5105] [KO:K01596] (PCKDM) PCK2 [HSA:5106] [KO:K01596] |
|
| H02521 | Diets-Jongmans 症候群 | Diets-Jongmans syndrome (DIJOS) is an inherited neurodevelopmental disorder characterized by intellectual disability, short stature, and facial dysmorphism. DIJOS is caused by mutations in KDM3B that encodes ... | 先天奇形 | KDM3B [HSA:51780] [KO:K15601] | |
| H02522 | Imagawa-Matsumoto 症候群 | Imagawa-Matsumoto syndrome is a very rare overgrowth syndrome that resembles Weaver syndrome [DS:H01751]. Mutations in SUZ12 cause this disease. SUZ12 is a core component of polycomb repressive complex ... | 先天奇形 | SUZ12 [HSA:23512] [KO:K11463] | |
| H02523 | 尿生殖器および/または脳の奇形症候群 | Genitourinary and/or brain malformation syndrome (GUBS) is caused by mutations in PPP1R12A. The brain abnormalities are variable. PPP1R12A encodes a component of myosin phosphatase, a key enzyme instrumental ... | 先天奇形 | PPP1R12A [HSA:4659] [KO:K06270] | |
| H02524 | 運動失調・汎血球減少症候群 | Ataxia-pancytopenia syndrome (ATXPC) is an autosomal dominant disorder, characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure and myeloid leukemia, sometimes ... | 血液疾患 | SAMD9L [HSA:219285] [KO:K23949] | |
| H02525 | 自然免疫の障害 | Innate immune responses represent the first line of defense against potentially invading organisms. Disorders of innate immunity (e.g. phagocyte and complement disorders) delay the induction of the immune ... | 免疫系疾患 |
(IMD44) STAT2 [HSA:6773] [KO:K11221] (IMD45) IFNAR2 [HSA:3455] [KO:K05131] (IMD57) RIPK1 [HSA:8737] [KO:K02861] (IMD63) IL2RB [HSA:3560] [KO:K05069] (IMD65) IRF9 [HSA:10379] [KO:K04693] (IMD77) MPEG1 [HSA:219972] [KO:K26547] (IMD80) MCM10 [HSA:55388] [KO:K10736] (IMD90) FADD [HSA:8772] [KO:K02373] (IMD91) ZNFX1 [HSA:57169] [KO:K27391] (IMD95) IFIH1 [HSA:64135] [KO:K12647] (IMD103) CARD9 [HSA:64170] [KO:K12794] (IMD106) IFNAR1 [HSA:3454] [KO:K05130] (IMD115) RNF31 [HSA:55072] [KO:K11974] (IMD117) IRF1 [HSA:3659] [KO:K09444] (IMD127) TNF [HSA:7124] [KO:K03156] |
|
| H02526 | 獲得免疫の障害 | T cells and B cells are the primary cells of the adaptive immune system. B cells mediate antibody production and play a major role in antibody-mediated immunity. T cells govern cell-mediated immune responses ... | 免疫系疾患 |
(IMD13) UNC119 [HSA:9094] [KO:K23539] (IMD41) IL2RA [HSA:3559] [KO:K05068] (IMD46) TFRC [HSA:7037] [KO:K06503] (IMD52) LAT [HSA:27040] [KO:K07362] (IMD53) RELB [HSA:5971] [KO:K09253] (IMD56) IL21R [HSA:50615] [KO:K05075] (IMD60) BACH2 [HSA:60468] [KO:K09042] (IMD62) ARHGEF1 [HSA:9138] [KO:K12330] (IMD64) RASGRP1 [HSA:10125] [KO:K04350] (IMD66) MRTFA [HSA:57591] [KO:K22525] (IMD70) IVNS1ABP [HSA:10625] [KO:K15046] (IMD72) NCKAP1L [HSA:3071] [KO:K05750] (IMD76) FCHO1 [HSA:23149] [KO:K20042] (IMD78) TPP2 [HSA:7174] [KO:K01280] (IMD79) CD4 [HSA:920] [KO:K06454] (IMD81) LCP2 [HSA:3937] [KO:K07361] (IMD82) SYK [HSA:6850] [KO:K05855] (IMD84) IKZF3 [HSA:22806] [KO:K09220] (IMD86) SPPL2A [HSA:84888] [KO:K09596] (IMD87) DEF6 [HSA:50619] [KO:K20072] (IMD88) TBX21 [HSA:30009] [KO:K10166] (IMD89) CARD10 [HSA:29775] [KO:K20912] (IMD92) REL [HSA:5966] [KO:K09254] (IMD93) FNIP1 [HSA:96459] [KO:K20400] (IMD99) CTNNBL1 [HSA:56259] [KO:K12864] (IMD123) CD28 [HSA:940] [KO:K06470] |
|
| H02527 | FLAD1 欠損による脂質蓄積ミオパチー | Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD) was recently reported as a novel riboflavin metabolism disorder resembling multiple acyl-CoA dehydrogenase deficiency (MADD). MADD, also known as ... | 先天性代謝異常症 | FLAD1 [HSA:80308] [KO:K00953] |