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 |
|---|---|---|---|---|---|
| H01595 |
皮膚エリテマトーデス 紅斑性狼瘡 |
Cutaneous lupus erythematosus (CLE) is the skin-related form of lupus erythematosus (LE), with a broad spectrum of clinical manifestations and a variable course. CLE is a frequent finding in patients with ... | 免疫系疾患; 皮膚疾患 | ||
| H01596 | イートン・ランバート症候群 | The Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease of neuromuscular transmission in which autoantibodies against the P/Q-type voltage-gated calcium channel (VGCC) at the presynaptic ... | 免疫系疾患; 神経系疾患 | ||
| H01597 |
レストレスレッグス症候群 むずむず脚症候群 下肢静止不能症候群 |
The restless legs syndrome (RLS), also known as Willis Ekbom disease is a neurologic disorder characterized by unpleasant sensations in the legs accompanied by an urge to move them (akathisia). These symptoms ... | 神経系疾患 | ||
| H01598 |
アジソン病 原発性副腎機能不全 副腎機能低下症 |
Primary adrenocortical insufficiency, also known as Addison disease, is a rare but fatal endocrine disorder characterized by the progressive destruction of the adrenal cortex, resulting in insufficient ... | 内分泌代謝疾患 | NR0B1 [HSA:190] [KO:K08562] | |
| H01599 | 好酸球増多症候群 | Hypereosinophilic syndrome (HES) is a heterogeneous group of rare disorders characterized by marked blood or tissue eosinophilia resulting in a wide variety of clinical manifestations. A number of HES ... | がん | (HES) FIP1L1-PDGFRA [HSA:5156] [KO:K04363] | |
| H01600 | パーキンソン症候群 | Parkinsonian syndromes (PS) are multisystemic diseases that produce not only motor and cognitive function impairment, but also other disorders that require the intervention of specialists other than the ... | 神経変性疾患 |
SNCA [HSA:6622] [KO:K04528] LRRK2 [HSA:120892] [KO:K08844] Parkin [HSA:5071] [KO:K04556] PINK1 [HSA:65018] [KO:K05688] DJ-1 [HSA:11315] [KO:K05687] ATP13A2 [HSA:23400] [KO:K13526] SYNJ1 [HSA:8867] [KO:K20279] DNAJC13 [HSA:23317] [KO:K09533] VPS13C [HSA:54832] [KO:K19525] |
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| H01601 | 未分化大細胞リンパ腫 | Anaplastic large cell lymphoma (ALCL) is a lymphoid neoplasm characterized by a proliferation of large lymphoid cells, referred to as hallmark cells, with strong expression of CD30. The World Health Organization ... | がん |
NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165] |
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| H01602 | 胃食道逆流症 | Gastroesophageal reflux disease (GERD) is a condition in which reflux of the stomach contents into the oesophagus results in symptoms or, occasionally, complications. GERD can be classified as non-erosive ... | 消化器系疾患 | ||
| H01603 | 原発性アルドステロン症 | Primary aldosteronism is a clinical syndrome characterized by excess secretion of aldosterone from the adrenal gland. It is manifested by hypertension and hyporeninemia. In the past, hypokalemia was thought ... | 内分泌代謝疾患 |
(HALD1) CYP11B1 [HSA:1584] [KO:K00497] (HALD3) KCNJ5 [HSA:3762] [KO:K04999] (HALD4) CACNA1H [HSA:8912] [KO:K04855] (PASNA) CACNA1D [HSA:776] [KO:K04851] ATP1A1 [HSA:476] [KO:K01539] ATP2B3 [HSA:492] [KO:K05850] |
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| H01604 | 皮膚筋炎/多発性筋炎 | Polymyositis (PM) and dermatomyositis (DM) are the two major forms of inflammatory muscle diseases. PM and DM, along with sporadic inclusion-body myositis (sIBM), belong to the heterogeneous group of the ... | 筋骨格疾患 | ||
| H01605 | 骨髄線維症 | Myelofibrosis (MF), one of the three classic Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs), is characterized by symptoms mainly derived from anemia and splenomegaly and constitutional ... | がん |
MPL [HSA:4352] [KO:K05082] JAK2 [HSA:3717] [KO:K04447] CALR [HSA:811] [KO:K08057] SH2B3 [HSA:10019] [KO:K12459] |
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| H01606 | リウマチ性多発筋痛症 | Polymyalgia rheumatica (PMR) is a relatively common inflammatory rheumatic disease in people older than 50 years of age. PMR is a clinical condition defined as the presence of inflammatory pain in the ... | 筋骨格疾患 | ||
| H01607 | 乳汁漏出症 | Galactorrhea is a discharge of milk or a milk-like secretion from the breast in the absence of parturition or beyond six months' post-partum in a nonbreastfeeding woman. The condition is more common in ... | 生殖器系疾患 | ||
| H01608 | 痙性斜頸 | Cervical dystonia (CD), formerly referred to as spasmodic torticollis, is a condition characterized by simultaneous and sustained contractions of both agonist and antagonist muscles of the neck, which ... | 神経系疾患 | ||
| H01609 | 不眠症 | Insomnia is a common disorder with a prevalence of about 10% in the general population. The most common complaints related to insomnia are difficulty initiating sleep (sleep-onset insomnia), difficulty ... | 神経系疾患 | ||
| H01610 | 肝吸虫症 | Clonorchiasis is an infectious disease of the biliary passages caused by Clonorchis sinensis of the family Opisthorchiidae. Clonorchis sinensis, the most common human liver fluke, is endemic in East Asia ... | 寄生虫感染症 | ||
| H01611 | アルコール依存症 | Alcohol dependence (AD) is a chronic but often disease that includes problems in controlling one's drinking, being preoccupied with alcohol, continuing to use alcohol even when it causes problems, having ... | 精神及び行動の障害 | hsa05034 Alcoholism |
ALDH2 [HSA:217] [KO:K00128] ADH1B [HSA:125] [KO:K13951] ADH1C [HSA:126] [KO:K13951] HTR2A [HSA:3356] [KO:K04157] GABRA2 [HSA:2555] [KO:K05175] TAS2R16 [HSA:50833] [KO:K08474] |
| H01612 | 本態性血小板血症 | Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms (MPNs), a group of clonal stem cell disorders with similarities at the phenotypic and molecular level. ET is characterized by an ... | 血液疾患 |
(THCYT1) THPO [HSA:7066] [KO:K06854] (THCYT1) SH2B3 [HSA:10019] [KO:K12459] (THCYT1) CALR [HSA:811] [KO:K08057] (THCYT2) MPL [HSA:4352] [KO:K05082] (THCYT3) JAK2 [HSA:3717] [KO:K04447] |
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| H01613 | 濾胞性リンパ腫 | Follicular lymphoma (FL) is generally an indolent B cell lymphoproliferative disorder of transformed follicular center B cells. FL is characterized by diffuse lymphoadenopathy, bone marrow involvement ... | がん |
IgH-BCL2 (translocation) [HSA:596] [KO:K02161] EZH2 (mutation) [HSA:2146] [KO:K11430] MLL2 (mutation) [HSA:9757 8085] [KO:K14959 K09187] CREBBP (mutation) [HSA:1387] [KO:K04498] MEF2B (mutation) [HSA:4207] [KO:K09261] EP300 (mutation) [HSA:2033] [KO:K04498] |
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| H01614 | 多系統萎縮症 | Multiple system atrophy (MSA) is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction ... | 神経変性疾患 | COQ2 [HSA:27235] [KO:K06125] | |
| H01615 |
過敏大腸症 イリタブルコロン |
Irritable bowel syndrome (IBS) is a common functional gastrointestinal disorder. It is characterized by symptoms of abdominal pain, bloating, and abnormal bowel movements, such as diarrhea or constipation ... | 消化器系疾患 | GUCY2C [HSA:2984] [KO:K12320] | |
| H01616 | 脊髄小脳変性症 | Spinocerebellar degenerations are neurodegenerative diseases that involve the cerebellum, brain stem, spinal cord, and basal ganglia to various degrees. Patients display limb and truncal ataxia, dysarthria ... | 神経変性疾患 | ||
| H01617 | 食物媒介吸虫類感染症 | Foodborne trematode infections, which are caused by four main genera: Clonorchis spp. that cause clonorchiasis, Opisthorchis spp. that cause opisthorchiasis, Fasciola spp. that cause fascioliasis and Paragonimus ... | 寄生虫感染症 | ||
| H01618 | 下垂体性巨人症 | Pituitary gigantism is very rare conditions resulting from excessive secretion of growth hormone (GH). Most cases are due to benign pituitary adenomas. Nonadenomatous GH excess is exceptional but occasionally ... | 内分泌代謝疾患 | GPR101 (duplication) [HSA:83550] [KO:K08423] | |
| H01619 | 原発性肺高血圧症 | Primary pulmonary hypertension (PPH) is a progressive disorder characterised by raised pulmonary-artery pressures with pathological changes in precapillary pulmonary arteries. | 循環器系疾患 |
(PPH1) BMPR2 [HSA:659] [KO:K04671] (PPH2) SMAD9 [HSA:4093] [KO:K16791] (PPH3) CAV1 [HSA:857] [KO:K06278] (PPH4) KCNK3 [HSA:3777] [KO:K04914] (PPH5) ATP13A3 [HSA:79572] [KO:K14951] (PPH6) CAPNS1 [HSA:826] [KO:K08583] (PPH7) SOX17 [HSA:64321] [KO:K04495] |
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| H01620 | レイノー症候群 | Raynaud syndrome (RS) is characterized by episodic digital ischemia induced by cold or emotional stress. Pathophysiologic mechanisms include temporary vasospasm and fixed digital artery obstruction. Although ... | 循環器系疾患 | ||
| H01621 | 肺動脈性肺高血圧症 | Pulmonary arterial hypertension (PAH) is a progressive disorder in which endothelial dysfunction and vascular remodeling obstruct small pulmonary arteries, resulting in increased pulmonary vascular resistance ... | 循環器系疾患 |
BMPR2 [HSA:659] [KO:K04671] SMAD9 [HSA:4093] [KO:K16791] CAV1 [HSA:857] [KO:K06278] KCNK3 [HSA:3777] [KO:K04914] ATP13A3 [HSA:79572] [KO:K14951] CAPNS1 [HSA:826] [KO:K08583] SOX17 [HSA:64321] [KO:K04495] ACVRL1 [HSA:94] [KO:K13594] EIF2AK4 [HSA:440275] [KO:K16196] |
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| H01622 | 慢性血栓塞栓性肺高血圧症 | Chronic thromboembolic pulmonary hypertension (CTEPH) is classified as group 4 pulmonary hypertension (PH) by the World Health Organization. It is a rare, but underdiagnosed, complication of acute pulmonary ... | 循環器系疾患 | ||
| H01623 |
MDPL 症候群 下顎低形成、難聴、早老症および脂肪萎縮症候群 |
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a rare autosomal dominant systemic disorder recently described. It has been reported that mutations in POLD1 cause ... | 先天奇形 | POLD1 [HSA:5424] [KO:K02327] | |
| H01624 | 帯状疱疹後神経痛 | Herpes zoster (HZ) presents as a rash of 2-3 weeks duration in immunocompetent patients that is accompanied by moderate or severe pain. In some patients, pain does not resolve when the rash heals but continues ... | ウイルス感染症 |