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 |
|---|---|---|---|---|---|
| H01505 | 封入体筋炎 | Inclusion body myositis (IBM) is the most frequent acquired myopathy after age 45. It is distinguished from other inflammatory myopathies by its selective pattern of muscle involvement and slowly progressive ... | 神経系疾患; 筋骨格疾患 | ||
| H01506 |
肝性脳症 肝性昏睡 門脈体循環性脳障害 |
Hepatic encephalopathy (HE) is a brain dysfunction caused by liver insufficiency or portal systemic shunting. HE most commonly occurs in decompensated liver cirrhosis and incorporates a spectrum of manifestations ... | 神経系疾患; 消化器系疾患 | ||
| H01507 | 血清反応陰性関節炎 | Seronegative spondyloarthropathies (SpA) represent a group of chronic articular inflammatory diseases which differ from rheumatoid arthritis for the typical absence of rheumatoid factor in serum, and have ... | 免疫系疾患 | HLA-B [HSA:3106] [KO:K06751] | |
| H01508 | 唾液腺癌 | Salivary gland carcinomas are rare tumours representing about 0.5% of all malignancies and less than 5 % of all head and neck cancers. These are a heterogeneous group of tumors that include 24 histologically ... | がん |
CRTC1-MAML2 (translocation) [HSA:23373 84441] [KO:K15309 K06061] MYB-NF1B (translocation) [HSA:4602] [KO:K09420] ETV6-NTRK3 (translocation) [HSA:4916] [KO:K05101] EGFR (overexpression) [HSA:1956] [KO:K04361] HER2 (overexpression) [HSA:2064] [KO:K05083] CDKN2A (deletion) [HSA:1029] [KO:K06621] |
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| H01509 | 扁桃癌 | Tonsillar cancer (TC) is the most common oropharyngeal cancer and tumours are mainly squamous cell carcinomas. Traditionally, risk factors for the development of TC include the use of alcohol and/or tobacco ... | がん |
CDKN2A (overexpression) [HSA:1029] [KO:K06621] MYC (amplification) [HSA:4609] [KO:K04377] HIF1A (overexpression) [HSA:3091] [KO:K08268] |
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| H01510 | 悪性傍神経節腫 | Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. Malignancy is defined by presence of metastases, tumor ... | がん |
SDHD [HSA:6392] [KO:K00237] SDHB [HSA:6390] [KO:K00235] SDHC [HSA:6391] [KO:K00236] NF1 [HSA:4763] [KO:K08052] RET [HSA:5979] [KO:K05126] VHL [HSA:7428] [KO:K03871] TMEM127 [HSA:55654] [KO:K25206] MAX [HSA:4149] [KO:K04453] KIF1B [HSA:23095] [KO:K10392] EPAS1 [HSA:2034] [KO:K09095] FH [HSA:2271] [KO:K01679] |
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| H01511 | 肥満細胞白血病 | Mast cell leukemia (MCL), the leukemic manifestation of systemic mastocytosis (SM), is characterized by leukemic expansion of immature mast cells (MCs) in the bone marrow (BM) and other internal organs; ... | がん | KIT (mutation) [HSA:3815] [KO:K05091] | |
| H01512 | ランゲルハンス細胞組織球症 | Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by a clonal proliferation of specialized cells with characteristics resembling antigen-presenting cells that reside in the ... | がん |
BRAF (mutation) [HSA:673] [KO:K04365] MAP2K1 (mutation) [HSA:5604] [KO:K04368] |
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| H01513 |
網膜芽細胞腫 網膜芽腫 |
The retinoblastoma is an eye tumor of childhood that arises in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formation usually begins with mutation in ... | がん |
RB1 (mutation) [HSA:5925] [KO:K06618] MDM4 (amplification) [HSA:4194] [KO:K10127] MDM2 (amplification) [HSA:4193] [KO:K06643] KIF14 (amplification) [HSA:9928] [KO:K17915] CDH11 (loss) [HSA:1009] [KO:K06803] p16/INK (loss) [HSA:1029] [KO:K06621] |
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| H01514 | ランドウ・クレフナー症候群 | Landau-Kleffner syndrome (LKS) is an epileptic encephalopathy that usually manifests itself in children aged 3-8 years with previously normal development. All LKS patients have abnormal EEG that is compatible ... | 神経系疾患 | GRIN2A [HSA:2903] [KO:K05209] | |
| H01515 | 猩紅熱 | Scarlet fever, also called scarlatina, is caused by Streptococcus pyogenes (GroupA Streptococcus, GAS). The important diagnostic signs of scarlet fever include fever, sore throat, rash and bright red tongue ... | 細菌感染症 | ||
| H01516 |
成人スチル病 成人スティル病 |
Adult-onset Still disease (AOSD) is a systemic inflammatory disorder. The disease manifestations are protean ranging from high fever, arthralgia, skin rash, sore throat, lymphadenopathy, and hepatosplenomegaly ... | 免疫系疾患 | ||
| H01517 | 丹毒 | Streptococcus pyogenes (group A Streptococcus) is the usual etiologic agent of erysipelas. Symptoms and signs of erysipelas are chills, fever, a well-demarcated, erythematous, indurated, rapidly spreading ... | 細菌感染症 | ||
| H01518 |
ロボミコーシス ロボ病 ラカジオージス |
Lobomycosis, also known as Lobo disease or lacaziosis, is a chronic, granulomatous and cutaneous-subcutaneous infection that primarily occurs in tropical climates of Latin America. It is a zoonotic disease ... | 真菌感染症 | ||
| H01519 | 疥癬 | Scabies is a disease caused by the ectoparasitic mite Sarcoptes scabiei. Scabies is a contagious cutaneous inflammation and common among many different species of animals. S. scabiei burrows into the skin ... | 寄生虫感染症 | ||
| H01520 |
クロモミコーシス クロモブラストミコーシス |
Chromomycosis, also known as Chromoblastomycosis, is a chronic fungal infection of the skin and the subcutaneous tissue caused by a transcutaneous traumatic inoculation of a specific group of dematiaceous ... | 真菌感染症 | ||
| H01521 |
ニューモシスチス肺炎 カリニ肺炎 |
Pneumocystis pneumonia (PCP) is an infectious disease caused by Pneumocystis jirovecii that belongs to the genus Pneumocystis. Members of the genus Pneumocystis are unicellular, eukaryotic organisms that ... | 真菌感染症 | ||
| H01522 | ゾリンジャー・エリソン症候群 | Zollinger-Ellison syndrome (ZES) is a rare endocrinopathy caused by tumors of the pancreas and duodenum. These tumors, called gastrinomas, release gastrin to produce large amounts of acid that result in ... | 内分泌代謝疾患 | MEN1 [HSA:4221] [KO:K14970] | |
| H01523 | ウィスコット・アルドリッチ症候群 | The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, and characterised by thrombocytopenia ... | 免疫系疾患 |
(WAS1) WAS [HSA:7454] [KO:K05747] (WAS2) WIPF1 [HSA:7456] [KO:K19475] |
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| H01524 | ディジョ−ジ症候群 | DiGeorge syndrome (DGS) is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. This syndrome ... | 原発性免疫不全症 | TBX1 [HSA:6899] [KO:K10175] | |
| H01525 |
22q11.2 欠失症候群 キャッチ 22 |
The 22q11.2 deletion syndrome is the most common microdeletion disorder with an estimated prevalence of 1 in 3000-6000 live births. Most of the patients show the common 3 Mb deletion, but proximal 1.5 ... | 染色体異常 | TBX1 [HSA:6899] [KO:K10175] | |
| H01526 | レッグ・カルベ・ペルテス病 | Legg-Calve-Perthes disease (LCPD) is a particular type of femoral head necrosis occurring in children. It is more common among boys, and bilateral involvement occurs in 8-24% of cases. The disease is usually ... | 筋骨格疾患 | COL2A1 [HSA:1280] [KO:K19719] | |
| H01527 |
慢性炎症性脱髄性多発神経炎 多巣性運動ニューロパチー |
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a polyneuropathy that is often disabling, with more than 50% of patients reported as having temporary disability, and about 10% eventually ... | 免疫系疾患; 神経系疾患 | ||
| H01528 | 悪性症候群 | Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening side effect to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction ... | 神経系疾患 | ||
| H01529 | 大腿骨頭壊死症 | Avascular necrosis of the femoral head (ANFH) is one of the most common diseases of osteonecrosis that leads to destruction of the hip joint. Osteonecrosis is a pathological process in which cellular death ... | 筋骨格疾患 |
(ANFH1) COL2A1 [HSA:1280] [KO:K19719] (ANFH2) TRPV4 [HSA:59341] [KO:K04973] SERPINE1 [HSA:5054] [KO:K03982] VEGFA [HSA:7422] [KO:K05448] NOS3 [HSA:4846] [KO:K13242] ABCB1 [HSA:5243] [KO:K05658] |
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| H01530 |
ピンタ カラート |
Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and endemic syphilis. Pinta, also ... | 細菌感染症 | ||
| H01531 |
ベジェル 地方病性梅毒 |
Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and bejel. Bejel, also known as ... | 細菌感染症 | ||
| H01532 | 痛風 | Gout is a kind of arthritis associated with hyperuricemia. It is triggered due to precipitation and deposition of inflammatory monosodium urate crystals in synovial and other tissues, accompanied by severe ... | 筋骨格疾患 |
(GOUT1) ABCG2 [HSA:9429] [KO:K05681] (GOUT2) SLC2A9 [HSA:56606] [KO:K08146] (GOUT4) SLC17A3 [HSA:10786] [KO:K12300] (GOUT5/DLACD) LDHD [HSA:197257] [KO:K00102] |
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| H01533 | 日本脳炎 | Japanese encephalitis is an infection of the central nervous system caused by Japanese encephalitis virus (JEV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes ... | ウイルス感染症 | ||
| H01534 | 西部ウマ脳炎 | Western equine encephalitis is an infection of the central nervous system caused by Western equine encephalitis virus (WEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted ... | ウイルス感染症 |