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 |
|---|---|---|---|---|---|
| H01565 | ウェルニッケ脳症 | Wernicke encephalopathy is a rare but serious neurological pathology due to a vitamin B1 deficiency. It is commonly associated with heavy alcohol consumption. Other clinical associations are with hyperemesis ... | 内分泌代謝疾患 | SLC19A2 [HSA:10560] [KO:K14610] | |
| H01566 | 脚気 | Beriberi is the classical syndrome caused by thiamine (vitamin B1) deficiency. Beriberi has two major clinical manifestations, dry beriberi characterized by neurologic manifestations that include peripheral ... | 内分泌代謝疾患 | ||
| H01567 |
チアミンピロホスホキナーゼ欠損症 チアミン代謝異常症候群 5 |
Thiamine pyrophosphokinase (TPK) deficiency is a recently described rare disorder that has episodic encephalopathy or Leigh syndrome like early-onset global developmental delay. TPK deficiency is one of ... | 先天性代謝異常症 | TPK1 [HSA:27010] [KO:K00949] | |
| H01568 | 3C 症候群 | The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a rare, presumably autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ... | 先天奇形 |
(RTSC1) WASHC5 [HSA:9897] [KO:K18464] (RTSC2) CCDC22 [HSA:28952] [KO:K23343] (RTSC3) VPS35L [HSA:57020] [KO:K25731] (RTSC4) DPYSL5 [HSA:56896] [KO:K07529] |
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| H01569 | CHOPS 症候群 | CHOPS syndrome is a congenital disorder involving multiple abnormalities. The symptoms include cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal ... | 先天奇形 | AFF4 [HSA:27125] [KO:K15185] | |
| H01570 | 常染色体優性遺伝性線条体変性症 | Autosomal-dominant striatal degeneration (ADSD) is a rare autosomal-dominant movement disorder affecting the striatal part of the basal ganglia, with onset in the fourth to fifth decade. The main clinical ... | 神経系疾患 |
(ADSD1) PDE8B [HSA:8622] [KO:K18437] (ADSD2) PDE10A [HSA:10846] [KO:K18438] |
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| H01571 | Singleton-Merten 症候群 | Singleton-Merten syndrome (SMS) is a rare autosomal-dominant multisystem disorder characterized by early and extreme aortic and valvular calcification, dental anomalies (early-onset periodontitis and root ... | 先天奇形 |
(SGMRT1) IFIH1 [HSA:64135] [KO:K12647] (SGMRT2) RIGI [HSA:23586] [KO:K12646] |
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| H01572 | Cole-Carpenter 症候群 | Cole-Carpenter syndrome (CCS) is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. CCS was ... | 先天奇形 |
P4HB [HSA:5034] [KO:K09580] SEC24D [HSA:9871] [KO:K14007] |
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| H01573 | Zimmermann-Laband 症候群 | Zimmermann-Laband syndrome (ZLS) is a rare craniofacial malformation syndrome with predominant intraoral involvement consisting in diffuse gingival fibromatosis of early onset. Most cases are sporadic ... | 先天奇形 |
(ZLS1) KCNH1 [HSA:3756] [KO:K04904] (ZLS2) ATP6V1B2 [HSA:526] [KO:K02147] (ZLS3) KCNN3 [HSA:3782] [KO:K04944] |
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| H01574 |
家族性特発性基底核石灰化症 ファール病 |
Familial idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is an inherited neurological disorder characterized by symmetrical calcification of cerebral structures lacking known ... | 神経系疾患 |
(IBGC1) SLC20A2 [HSA:6575] [KO:K14640] (IBGC4) PDGFRB [HSA:5159] [KO:K05089] (IBGC5) PDGFB [HSA:5155] [KO:K17386] (IBGC6) XPR1 [HSA:9213] [KO:K24195] (IBGC7) MYORG [HSA:57462] [KO:K24727] (IBGC8) JAM2 [HSA:58494] [KO:K06735] (IBGC9) NAA60 [HSA:79903] [KO:K21121] (IBGC10) CMPK2 [HSA:129607] [KO:K13809] (IBGC11) RRP12 [HSA:23223] [KO:K14794] |
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| H01575 | Roifman 症候群 | Roifman syndrome is a multi-system disorder with a physical phenotype that includes B-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy ... | 先天奇形 | RNU4ATAC [HSA:100151683] [KO:K26388] | |
| H01576 | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an autosomal recessive skeletal dysplasia, characterised by radiolucent metaphyseal and vertebral lesions. Patients may exhibit varying ... | 先天奇形 | ACP5 [HSA:54] [KO:K14379] | |
| H01577 | 本態性振戦 | Essential tremor (ET) is a neurological disorder that is considered to be one of the most common adult-onset movement disorders. ET is typically characterized by rhythmic, involuntary shaking of one or ... | 神経系疾患 |
(ETM1) DRD3 [HSA:1814] [KO:K04146] (ETM4) FUS [HSA:2521] [KO:K13098] (ETM5) TENM4 [HSA:26011] [KO:K24473] (ETM6) NOTCH2NLC [HSA:100996717] [KO:K24466] |
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| H01578 |
スモン 亜急性脊髄視神経症 |
Subacute myelo-optico-neuropathy (SMON) is a severe neurodegenerative disorder caused by poisoning due to over-dose and prolonged oral administration of clioquinol. SMON is characterized by subacute onset ... | 神経変性疾患 | ||
| H01579 | Michelin tire baby 症候群 | Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described ... | 先天奇形 |
(CSCSC1) TUBB [HSA:203068] [KO:K07375] (CSCSC2) MAPRE2 [HSA:10982] [KO:K10436] |
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| H01580 |
壊血病 ビタミン C 欠乏症 |
Scurvy occurs because of reduced intake or absorption of vitamin C, which is characterized by bleeding gums, impaired wound healing, petechiae, perifollicular hemorrhage, anemia, arthralgia and joint effusions ... | 先天性代謝異常症 | ||
| H01581 | IgA 腎症 | Primary IgA nephropathy is an immune-complex-mediated glomerulonephritis defined immunohistologically by the presence of glomerular IgA deposits accompanied by a variety of histopathologic lesions. It ... | 免疫系疾患; 泌尿器系疾患 | ||
| H01582 | ペラグラ | Pellagra is a remarkable chronic wasting disorder, the late stage of a severe cellular deficiency of niacin (vitamin B3). The classical triad of pellagra is dermatitis, diarrhea and dementia. Early symptoms ... | 内分泌代謝疾患 | ||
| H01583 |
ヒドロキシキヌレニン尿症 キサンツレン酸尿症 キヌレニナーゼ欠損症 |
Hydroxykynureninuria, also known as xanthurenic aciduria is autosomal recessive disorder of tryptophan metabolism. It is characterized by excessive output of xanthutrenic acid, 3-hydroxykynurenine, and ... | 先天性代謝異常症 | KYNU [HSA:8942] [KO:K01556] | |
| H01584 |
IgA 血管炎 ヘノッホ・シェーンライン紫斑病 |
IgA vasculitis (IgAV), also known as Henoch-Schonlein purpura (HSP), is the most common systemic small vessel vasculitis in childhood with clinical characteristics of non-thrombocytopenic palpable purpura ... | 免疫系疾患 | ||
| H01585 | 自己免疫性溶血性貧血 | Autoimmune hemolytic anemia (AIHA) is a relatively uncommon disorder caused by the increased destruction of red blood cells (RBCs) by anti-RBC autoantibodies with or without complement activation. AIHAs ... | 血液疾患 | ||
| H01586 | 後天性赤芽球癆 | Pure red cell aplasia (PRCA) is a rare condition characterised by selective inhibition and the absence of red cell precursors in the bone marrow with consequent anaemia and reticulocytopenia in the presence ... | 血液疾患 | ||
| H01587 |
播種性血管内凝固症候群 汎発性血管内凝固症候群 |
Disseminated intravascular coagulation (DIC) is an acquired syndrome characterised by the intravascular activation of coagulation with loss of localisation arising from different causes. It can originate ... | 血液疾患 | ||
| H01588 | 群発頭痛 | Cluster headache (CH) is the commonest of the trigeminal autonomic cephalalgias (TAC) characterized by attacks of severe, strictly unilateral pain, which is orbital, supraorbital, temporal, or in any combination ... | 神経系疾患 | ||
| H01589 | 全身性カルニチン欠乏症 | Systemic primary carnitine deficiency is a rare autosomal recessive disorder characterized by cardiomyopathy, muscle weakness, hypoglycemic hypoketotic coma, and hyperammonemia. Carnitine plays essential ... | 先天性代謝異常症 | (CDSP) SLC22A5 [HSA:6584] [KO:K08202] | |
| H01590 | 慢性好酸球性白血病 | Chronic eosinophilic leukemia (CEL) is a chronic myeloproliferative disease of unknown etiology in which a clonal proliferation of eosinophilic precursors results in a persistently elevated number of eosinophils ... | がん |
FIP1L1-PDGFRA (deletion) [HSA:5156] [KO:K04363] BCR-PDGFRA (translocation) [HSA:5156] [KO:K04363] |
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| H01591 | 消化管間質腫瘍 | Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the GI tract, arising from the interstitial cells of Cajal, or their precursor stem cells. GISTs account for about 80% ... | がん |
(GIST) KIT [HSA:3815] [KO:K05091] (GIST) SDHB [HSA:6390] [KO:K00235] (GIST) SDHC [HSA:6391] [KO:K00236] (GISTPS) PDGFRA [HSA:5156] [KO:K04363] |
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| H01592 | 甲状腺髄様癌 | Medullary thyroid carcinoma (MTC) is a malignant tumor originating from thyroid parafollicular C cells and accounts for only <5% of thyroid cancers, but it causes a disproportionate number of thyroid cancer ... | がん |
RET [HSA:5979] [KO:K05126] HRAS [HSA:3265] [KO:K02833] KRAS [HSA:3845] [KO:K07827] |
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| H01593 | 骨粗鬆症 | Osteoporosis is a common disease characterised by a generalised reduction in bone mineral density (BMD), microarchitectural deterioration of bone tissue and an increased risk of fracture. Since BMD values ... | 筋骨格疾患 |
(BMND1) LRP5 [HSA:4041] [KO:K03068] (BMND12) UGT2B17 [HSA:7367] [KO:K00699] (BMND15) MIR2861 [HSA:100422910] (BMND16) WNT1 [HSA:7471] [KO:K03209] (BMND17) LGR4 [HSA:55366] [KO:K04309] (BMND18) PLS3 [HSA:5358] [KO:K17336] (OPDD) COPB2 [HSA:9276] [KO:K17302] PDLIM4 [HSA:8572] [KO:K23353] CALCR [HSA:799] [KO:K04576] COL1A1 [HSA:1277] [KO:K06236] COL1A2 [HSA:1278] [KO:K06236] |
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| H01594 | 重症筋無力症 | Myasthenia gravis (MG) is an autoimmune disorder characterized by a defective transmission of nerve impulses to muscles leading to muscle weakness and fatigability. Some, but not all, muscles are affected ... | 免疫系疾患; 神経系疾患 |