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 |
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| H01716 | 特発性間質性肺炎 | Idiopathic interstitial pneumonias (IIP) are a heterogeneous subset of interstitial lung diseases, characterized by unknown aetiology. Despite the varied nature of IIPs, the common histological feature ... | 呼吸器系疾患 | ||
| H01717 | 視神経炎 | Optic neuritis is a demyelinating inflammatory disease of the optic nerve that presents with an abrupt loss of vision. The majority of patients are between the ages of 20 and 50 years, with a mean age ... | 神経系疾患 | ||
| H01718 | 川崎病 | Kawasaki disease (KD) is an acute systemic vasculitis of childhood that does not have a known cause or aetiology. KD is a self-limited illness that is not associated with the production of autoantibodies ... | 免疫系疾患 | ||
| H01719 | 視神経症 | Optic neuropathy is damage to the optic nerve that causes vision loss frequently. The optic nerve is susceptible to a number of pathologic processes. Causes of the disease include demyelinating, inflammatory ... | 神経系疾患 | ||
| H01720 | 東南アジア楕円赤血球症 | Southeast Asian ovalocytosis (SAO) is a very common condition in the aboriginal peoples from Papua New Guinea, Indonesia, Malaysia, the Philippines, and southern Thailand, in areas where malaria is endemic ... | 血液疾患 | (SAO) SLC4A1 [HSA:6521] [KO:K06573] | |
| H01721 |
抗糸球体基底膜腎炎 グッドパスチャー症候群 |
Goodpasture syndrome (GS), or anti-glomerular basement membrane (anti-GBM) disease, is a rare and organ-specific autoimmune disease defined by anti-GBM antibody-mediated damage (mainly immunoglobulin G-1) ... | 免疫系疾患 | ||
| H01722 | ギャロウェイ・モワト症候群 | Galloway-Mowat Syndrome (GAMOS) is an autosomal recessively inherited condition characterized by the association of nephrotic syndrome and central nervous system involvement. Several case reports and studies ... | 先天奇形 |
(GAMOS1) WDR73 [HSA:84942] [KO:K24754] (GAMOS2) LAGE3 [HSA:8270] [KO:K15902] (GAMOS3) OSGEP [HSA:55644] [KO:K01409] (GAMOS4) TP53RK [HSA:112858] [KO:K08851] (GAMOS5) TPRKB [HSA:51002] [KO:K15901] (GAMOS6) WDR4 [HSA:10785] [KO:K15443] (GAMOS7) NUP107 [HSA:57122] [KO:K14301] (GAMOS8) NUP133 [HSA:55746] [KO:K14300] (GAMOS9) GON7 [HSA:84520] [KO:K15903] (GAMOS10) YRDC [HSA:79693] [KO:K07566] |
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| H01723 | 深部静脈血栓症 | Deep vein thrombosis (DVT) is the formation of blood clots (thrombi) in the deep veins. It can lead to complications such as postphlebitic syndrome, pulmonary embolism and death. DVT has genetic and acquired ... | 血液疾患 |
SERPINC1 [HSA:462] [KO:K03911] PROC [HSA:5624] [KO:K01344] PROS1 [HSA:5627] [KO:K03908] |
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| H01724 |
HTLV-1 関連脊髄症 熱帯性痙性不全対麻痺症 |
Human T lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic progressive myelopathy characterized by bilateral pyramidal tract involvement with sphincteric ... | 免疫系疾患; 神経系疾患 | ||
| H01725 | 原発性免疫不全症 | Primary immunodeficiency diseases (PIDs) are genetically determined disorders of the immune system resulting in greatly enhanced susceptibility to infectious disease, autoimmunity and malignancy. Many ... | 免疫系疾患 | hsa05340 Primary immunodeficiency |
(IMD14A/14B) PIK3CD [HSA:5293] [KO:K00922] (IMD69) IFNG [HSA:3458] [KO:K04687] (IMD73A/73B/73C) RAC2 [HSA:5880] [KO:K07860] (IMD75) TET2 [HSA:54790] [KO:K24309] (IMD94) IL6ST [HSA:3572] [KO:K05060] (IMD100) OAS1 [HSA:4938] [KO:K14216] (IMD101) POLR3F [HSA:10621] [KO:K03025] (IMD102) SASH3 [HSA:54440] [KO:K23706] (IMD107) OTULIN [HSA:90268] [KO:K18343] (IMD108) CEBPE [HSA:1053] [KO:K10051] (IMD109) TNFRSF9 [HSA:3604] [KO:K05146] (IMD111/HATIS) DPP9 [HSA:91039] [KO:K08656] (IMD113) ARPC5 [HSA:10092] [KO:K05754] (IMD114) SLC19A1 [HSA:6573] [KO:K14609] (IMD118) MCTS1 [HSA:28985] [KO:K07575] (IMD125) FLT3LG [HSA:2323] [KO:K05454] (IMD126) PTCRA [HSA:171558] [KO:K06056] (IMD132B) TRAF3 [HSA:7187] [KO:K03174] (IMD134) IL27RA [HSA:9466] [KO:K19598] |
| H01726 | 膜性増殖性糸球体腎炎 | Membranoproliferative glomerulonephritis (MPGN) represents a pattern of glomerular injury, characterized by mesangial proliferation and expansion, lobularization of the glomerular tufts, and double contours ... | 免疫系疾患; 泌尿器系疾患 |
CFH [HSA:3075] [KO:K04004] CFHR5 [HSA:81494] [KO:K23817] DGKE [HSA:8526] [KO:K00901] |
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| H01727 | 原発性肺胞低換気症候群 | Primary alveolar hypoventilation syndrome (PAHS) is a rare disorder which shows hypoxemia and hypercapnia without apparent associated pulmonary, neuromuscular, and central nervous diseases. PAHS is characterized ... | 呼吸器系疾患 | ||
| H01729 | 心室期外収縮 | Premature ventricular complex (PVC) is characterized by the premature occurrence of a QRS complex that is bizarre in shape and lasts longer than 120 msec. The T wave is large and usually of opposite polarity ... | 循環器系疾患 | ||
| H01730 | 心筋梗塞 | Myocardial infarction (MI) or acute myocardial infarction (AMI) is a term for an event of heart attack. It is due to formation of plaques in the interior walls of the arteries resulting in reduced blood ... | 循環器系疾患 |
ESR1 [HSA:2099] [KO:K08550] F13A1 [HSA:2162] [KO:K03917] F7 [HSA:2155] [KO:K01320] GCLC [HSA:2729] [KO:K11204] GCLM [HSA:2730] [KO:K11205] ITGB3 [HSA:3690] [KO:K06493] LRP8 [HSA:7804] [KO:K20052] LTA [HSA:4049] [KO:K05468] OLR1 [HSA:4973] [KO:K08763] PSMA6 [HSA:5687] [KO:K02730] TNFSF4 [HSA:7292] [KO:K05469] LGALS2 [HSA:3957] [KO:K10090] |
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| H01731 |
脆弱Ｘ症候群関連疾患 脆弱X随伴振戦／失調症候群 |
Fragile X tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation CGG repeat expansions (range: 55-200) in the fragile X mental retardation 1 (FMR1) gene. Common ... | 染色体異常 | FMR1 [HSA:2332] [KO:K15516] | |
| H01732 | アンジェルマン症候群 | Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional maternal copy of UBE3A, a gene within 15q11-q13 ... | 染色体異常 | UBE3A [HSA:7337] [KO:K10587] | |
| H01733 | ウェルナー症候群 | Werner syndrome (WS) is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract ... | 内分泌代謝疾患 | WRN [HSA:7486] [KO:K10900] | |
| H01734 | ロスムンド・トムソン症候群 | Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies. RTS type 1 is associated with juvenile cataracts ... | 先天奇形 |
(RTS1) ANAPC1 [HSA:64682] [KO:K03348] (RTS2) RECQL4 [HSA:9401] [KO:K10730] (RTS3) CRIPT [HSA:9419] [KO:K24826] (RTS4) DNA2 [HSA:1763] [KO:K10742] |
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| H01735 | リンパ管腫症 | Lymphangiomatosis is a well-recognized congenital benign tumour, frequently seen in infancy and childhood, characterized by the presence of multiple lymphangiomas. The lymphangiomatosis spectrum encompasses ... | 新生物 | ||
| H01736 | 総動脈幹遺残症 | Persistent truncus arteriosus (PTA) is a rare congenital condition in which a solitary arterial trunk arises from the base of the heart and supplies the coronary, pulmonary and systemic arteries. It is ... | 循環器系疾患 |
NKX2-6 [HSA:137814] [KO:K09346] GATA6 [HSA:2627] [KO:K17897] |
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| H01737 | 表皮水疱症 | Inherited epidermolysis bullosa (EB) is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily ... | 先天奇形 | (EBLA) DSP [HSA:1832] [KO:K10381] | |
| H01738 | ヌーナン症候群 | Noonan syndrome (NS) is an autosomal dominant disorder characterised by short stature, craniofacial dysmorphism, congenital cardiac defects, cryptorchidism in men, coagulation defects, and neurocognitive ... | 先天奇形 |
(NS1) PTPN11 [HSA:5781] [KO:K07293] (NS2/10) LZTR1 [HSA:8216] [KO:K23330] (NS3) KRAS [HSA:3845] [KO:K07827] (NS4) SOS1 [HSA:6654] [KO:K03099] (NS5) RAF1 [HSA:5894] [KO:K04366] (NS6) NRAS [HSA:4893] [KO:K07828] (NS7) BRAF [HSA:673] [KO:K04365] (NS8) RIT1 [HSA:6016] [KO:K07832] (NS9) SOS2 [HSA:6655] [KO:K03099] (NS11) MRAS [HSA:22808] [KO:K07831] (NS12) RRAS2 [HSA:22800] [KO:K07830] (NS13) MAPK1 [HSA:5594] [KO:K04371] (NS14) SPRED2 [HSA:200734] [KO:K04703] |
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| H01739 | 多嚢胞性卵巣症候群 | Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by elevated androgen levels, menstrual irregularities, and/or small cysts on one or both ovaries. Clinical manifestations ... | 内分泌代謝疾患 | ||
| H01740 | 巨大血小板性血小板減少症 | Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations ... | 血液疾患 |
(MATINS) MYH9 [HSA:4627] [KO:K10352] (BSS) GP1BA [HSA:2811] [KO:K06261] (BSS) GP1BB [HSA:2812] [KO:K06262] (BSS) GP9 [HSA:2815] [KO:K06263] (BDPLT15) ACTN1 [HSA:87] [KO:K05699] (BDPLT16) ITGA2B [HSA:3674] [KO:K06476] (BDPLT19) PRKACG [HSA:5568] [KO:K04345] (BDPLT24) ITGB3 [HSA:3690] [KO:K06493] (STSL1) ABCG8 [HSA:64241] [KO:K05684] (STSL2) ABCG5 [HSA:64240] [KO:K05683] (MACTHC1) TUBB1 [HSA:81027] [KO:K07375] (MACTHC2) TUBA8 [HSA:51807] [KO:K07374] GATA1 [HSA:2623] [KO:K09182] VWF [HSA:7450] [KO:K03900] DIAPH1 [HSA:1729] [KO:K05740] |
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| H01741 | 中條-西村症候群 | Autoinflammation lipodystrophy and dermatosis syndrome (ALDD) is a systemic inflammatory condition characterized by recurrent episodes of fever, cutaneous lesions, lipodystrophy, and visceral inflammatory ... | 免疫系疾患 | PSMB8 [HSA:5696] [KO:K02740] | |
| H01742 | 冠動脈疾患 | Coronary artery disease (CAD) is one of the leading causes of death globally. CAD is coupled to a pathogenic process in which lipids and lipoproteins accumulate in the subendothelial intimal layer of the ... | 循環器系疾患 |
(ADCAD1) MEF2A [HSA:4205] [KO:K09260] (ADCAD2) LRP6 [HSA:4040] [KO:K03068] (CHDS1) CX3CR1 [HSA:1524] [KO:K04192] (CHDS5) KALRN [HSA:8997] [KO:K15048] (CHDS6) MMP3 [HSA:4314] [KO:K01394] (CHDS7) CD36 [HSA:948] [KO:K06259] |
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| H01743 | 自己炎症合併フォスフォリパーゼＣγ2 関連抗体欠損・免疫異常症 | Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is a rare autosomal dominant autoinflammatory disease characterized by early-onset recurrent erythematous plaques ... | 免疫系疾患 | PLCG2 [HSA:5336] [KO:K05859] | |
| H01744 | ポリグルコサン小体ミオパチー | Polyglucosan body myopathy (PGBM) is a rare autosomal recessive disorder characterized by chronic autoinflammation, invasive bacterial infections, and muscular amylopectinosis. Patients carried biallelic ... | 免疫系疾患 |
(PGBM1) RBCK1 [HSA:10616] [KO:K10630] (PGBM2) GYG1 [HSA:2992] [KO:K00750] |
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| H01745 | CFC 症候群 | Cardio-facio-cutaneous (CFC) syndrome is a congenital disorder characterized by short stature, a characteristic face, cardiac defects, developmental delay and mental retardation. Affected individuals present ... | 先天奇形 |
(CFC1) BRAF [HSA:673] [KO:K04365] (CFC2) KRAS [HSA:3845] [KO:K07827] (CFC3) MAP2K1 [HSA:5604] [KO:K04368] (CFC4) MAP2K2 [HSA:5605] [KO:K04369] |
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| H01746 | 乳児発症性 STING 関連血管炎 | STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy (SAVI) is a rare hereditary autoinflammatory disorder caused by gain-of-function mutations in TMEM173, the gene encoding ... | 免疫系疾患 | STING1 [HSA:340061] [KO:K12654] |