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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| H01355 | カーンズ・セイアー症候群 | Kearns-Sayre Syndrome is a multisystem disorder characterized by ophthalmoplegia, pigmentary retinopathy, heart block, and cerebellar ataxia. This disease is caused by various large-scale deletions of ... | 先天性代謝異常症 |
MT-ATP6 [HSA:4508] [KO:K02126] MT-ATP8 [HSA:4509] [KO:K02125] MT-CO3 [HSA:4514] [KO:K02262] MT-CYB [HSA:4519] [KO:K00412] MT-ND3 [HSA:4537] [KO:K03880] MT-ND4 [HSA:4538] [KO:K03881] MT-ND4L [HSA:4539] [KO:K03882] MT-ND5 [HSA:4540] [KO:K03883] MT-ND6 [HSA:4541] [KO:K03884] |
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| H01356 |
赤色ぼろ線維・ミオクローヌスてんかん症候群 MERRF 症候群 福原病 |
Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF) is a mitochondrial encephalomyopathy characterized by myoclonic seizures, cerebellar ataxia, myopathy, and ragged-red fibers (RRFs) on muscle biopsy ... | 先天性代謝異常症, ミトコンドリア病 |
TRNK [HSA:4566] [KO:K14229] TRNL1 [HSA:4567] [KO:K14228] TRNH [HSA:4564] [KO:K14226] TRNS1 [HSA:4574] [KO:K14233] TRNS2 [HSA:4575] [KO:K14233] TRNI [HSA:4565] [KO:K14227] TRNF [HSA:4558] [KO:K14231] TRNP [HSA:4571] [KO:K14232] MTND5 [HSA:4540] [KO:K03883] |
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| H01357 | アレルギー性接触性皮膚炎 | Allergic contact dermatitis (ACD) is a T-cell mediated skin inflammation caused by repeated skin exposure to contact allergens. Although regarded as a dermatosis that is typically triggered by environmental ... | 免疫系疾患 | ||
| H01358 | アトピー性皮膚炎 | Atopic dermatitis (ATOD) is a relapsing chronic inflammatory skin disease characterized by eczematous skin lesions and intense pruritus. A genetic defect in the filaggrin (FLG) protein and/or environmental ... | 免疫系疾患; 皮膚疾患 | (ATOD2) FLG [HSA:2312] [KO:K10384] | |
| H01359 | アナフィラキシー | Anaphylaxis is a severe, life-threatening, systemic allergic reaction that is almost always unanticipated and may lead to death by airway obstruction or vascular collapse. Anaphylaxis can be triggered ... | 免疫系疾患 | ||
| H01360 | アレルギー性鼻炎 | Allergic rhinitis (AR) is an inflammation of nasal mucosa mediated by IgE-associated processes, which is characterised by pruritus, sneezing, rhinorrhoea, and nasal congestion. The development of AR entails ... | 免疫系疾患 |
IL13 [HSA:3596] [KO:K05435] FOXJ1 [HSA:2302] [KO:K09402] |
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| H01361 | 好酸球性食道炎 | Eosinophilic esophagitis (EoE) is a chronic immune and antigen-mediated clinicopathologic disease that is characterized by eosinophil infiltration into the esophageal epithelium and results in esophageal ... | 免疫系疾患 | ||
| H01362 | 疱疹状皮膚炎 | Dermatitis herpetiformis (DH) is a chronic, polymorphic, pruritic skin disease that develops mostly in patients with latent gluten-sensitive enteropathy. There is an association with the genotypes HLA ... | 免疫系疾患; 皮膚疾患 |
HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-DR3 HLA-B8 |
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| H01363 | NARP症候群 | Neuropathy ataxia and retinis pigmentosa (NARP syndrome) is a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. Point mutations of the mitochondrial DNA ATPase ... | 先天性代謝異常症, ミトコンドリア病 | MT-ATP6 [HSA:4508] [KO:K02126] | |
| H01364 |
HADH欠損症 短鎖3ヒドロキシアシルCoA脱水素酵素欠損症 |
3-Hydroxyacyl-CoA dehydrogenase (HADH, SCHAD) deficiency is an autosomal recessive metabolic disorder, resulting from mutations in the HADH gene. HADH deficiency is one of the mitochondrial fatty acid ... | 先天性代謝異常症, ミトコンドリア病 | HADH [HSA:3033] [KO:K00022] | |
| H01365 | レーバー遺伝性視神経萎縮症 およびジストニア | Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is ... | 先天性代謝異常症 |
MT-ND6 [HSA:4541] [KO:K03884] MT-ND4 [HSA:4538] [KO:K03881] MT-ND1 [HSA:4535] [KO:K03878] MT-ND3 [HSA:4537] [KO:K03880] |
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| H01366 | 細菌性結膜炎 | Bacterial conjunctivitis is an infection caused by bacterial pathogens, such as Haemophilus influenza, Streptococcus pneumoniae and Moraxella catarrhalis. Most cases of conjunctivitis in adults are likely ... | 細菌感染症 | ||
| H01367 | 小児肝不全 | Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. Clinically, patients manifest with ... | 先天性代謝異常症, ミトコンドリア病 |
(ILFS1) LARS [HSA:51520] [KO:K01869] (ILFS2) NBAS [HSA:51594] [KO:K20473] (ILFS3) RINT1 [HSA:60561] [KO:K20474] (LFIT) TRMU [HSA:55687] [KO:K21027] |
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| H01368 |
チトクロムc酸化酵素欠損症 ミトコンドリア複合体 IV 欠損症 (MT-C4D) |
Cytochrome c oxidase (COX) deficiency is a mitochondrial disease that is caused by the lack of the COX. Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain (complex ... | 先天性代謝異常症, ミトコンドリア病 |
(MC4DN1) SURF1 [HSA:6834] [KO:K14998] (MC4DN2) SCO2 [HSA:9997] [KO:K23755] (MC4DN3) COX10 [HSA:1352] [KO:K02257] (MC4DN4) SCO1 [HSA:6341] [KO:K07152] (MC4DN5) LRPPRC [HSA:10128] [KO:K17964] (MC4DN6) COX15 [HSA:1355] [KO:K02259] (MC4DN7) COX6B1 [HSA:1340] [KO:K02267] (MC4DN8) TACO1 [HSA:51204] [KO:K18189] (MC4DN9) COA5 [HSA:493753] [KO:K18178] (MC4DN10) COX14 [HSA:84987] [KO:K18181] (MC4DN11) COX20 [HSA:116228] [KO:K18184] (MC4DN12) PET100 [HSA:100131801] [KO:K18186] (MC4DN13) COA6 [HSA:388753] [KO:K18179] (MC4DN14) COA3 [HSA:28958] [KO:K18175] (MC4DN15) COX8A [HSA:1351] [KO:K02273] (MC4DN16) COX4I1 [HSA:1327] [KO:K02263] (MC4DN17) COA8 [HSA:84334] [KO:K23506] (MC4DN18) COX6A2 [HSA:1339] [KO:K02266] (MC4DN19) PET117 [HSA:100303755] [KO:K18188] (MC4DN20) COX5A [HSA:9377] [KO:K02264] (MC4DN21) NDUFA4 [HSA:4697] [KO:K03948] (MC4DN22) COX16 [HSA:51241] [KO:K18182] (MC4DN23) COX11 [HSA:1353] [KO:K02258] (MC4DN24) FASTKD5 [HSA:60493] [KO:K27757] (COXPD44) FASTKD2 [HSA:22868] [KO:K18190] (MT-C4D) COX1 [HSA:4512] [KO:K02256] (MT-C4D) COX2 [HSA:4513] [KO:K02261] (MT-C4D) COX3 [HSA:4514] [KO:K02262] |
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| H01369 | ATP合成酵素欠損症 | ATP synthase deficiency is mitochondrial disease caused by inborn defects in the mitochondrial F1Fo-ATP synthase (respiratory chain complex V). Many patients die within a few months or years. It has been ... | 先天性代謝異常症, ミトコンドリア病 |
(MC5DN1) ATPAF2 [HSA:91647] [KO:K07556] (MC5DN2) TMEM70 [HSA:54968] [KO:K17966] (MC5DN3) ATP5F1E [HSA:514] [KO:K02135] (MC5DN4A/4B) ATP5F1A [HSA:498] [KO:K02132] (MC5DN5) ATP5F1D [HSA:513] [KO:K02134] (MC5DN6) ATP5MK [HSA:84833] [KO:K18194] (MC5DN7) ATP5PO [HSA:539] [KO:K02137] (MC5DM1/NARP/MIBSN) ATP6 [HSA:4508] [KO:K02126] (HUMOP) ATP5F1B [HSA:506] [KO:K02133] |
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| H01370 | SHORT 症候群 | SHORT syndrome is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies, teething delay, partial lipodystrophy ... | 先天奇形 | PIK3R1 [HSA:5295] [KO:K02649] | |
| H01371 | 特発性乳児高カルシウム血症 | Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that ... | 先天性代謝異常症 |
(HCINF1) CYP24A1 [HSA:1591] [KO:K07436] (HCINF2) SLC34A1 [HSA:6569] [KO:K14683] |
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| H01372 | 尋常性白斑 | Vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying hair, and mucous membranes. Some familial forms of vitiligo ... | 皮膚疾患 |
(VAMAS1) NLRP1 [HSA:22861] [KO:K12798] (VAMAS2) FOXD3 [HSA:27022] [KO:K09397] |
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| H01373 | Achromobacter xylosoxidans 感染 | Achromobacter xylosoxidans, also known as Alcaligenes xylosoxidans, is an environmental opportunistic pathogen that causes nosocomial infections targeting immunocompromised patients suffering from cancer ... | 細菌感染症 | ||
| H01374 | Helicobacter cinaedi 感染 | Helicobacter cinaedi (previously called Campylobacter cinaedi) causes cellulitis, bacteremia and diarrhea frequently in immunocompromised patients and occasionally in immunocompetent individuals. In addition ... | 細菌感染症 | ||
| H01375 | グルコース-6-リン酸脱水素酵素欠損症 | Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked, hereditary disorder due to mutations in the G6PD gene, resulting in protein variants with different levels of enzyme activity, that are ... | 先天性代謝異常症 | G6PD [HSA:2539] [KO:K00036] | |
| H01376 | 四肢顔面骨形成不全症 | Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager ... | 先天奇形 |
(AFD1) SF3B4 [HSA:10262] [KO:K12831] (AFDCIN) POLR1A [HSA:25885] [KO:K02999] (POADS) DHODH [HSA:1723] [KO:K00254] (WAD) EVC2 [HSA:132884] [KO:K19608] (WAD) EVC [HSA:2121] [KO:K19605] |
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| H01377 | Mitchell-Riley 症候群 | Mitchell-Riley syndrome is a neonatal diabetes syndrome that involves abnormalities of the anterior gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of ... | 先天性代謝異常症 | RFX6 [HSA:222546] [KO:K19521] | |
| H01378 | Bosch-Boonstra 視神経萎縮症候群 | Bosch-Boonstra optic atrophy syndrome is an autosomal dominant disorder characterized by mild to moderate intellectual impairment and optic atrophy. Heterozygous mutations in the NR2F1 gene have been associated ... | 神経系疾患 | NR2F1 [HSA:7025] [KO:K08547] | |
| H01379 | Arcobacter butzleri 感染 | Arcobacter butzleri is the best characterized of all Arcobacters and an emerging pathogen that causes diarrhea, recurrent abdominal cramps and bacteremia. A. butzleri is isolated often from aqueous environments ... | 細菌感染症 | ||
| H01380 | 細菌性膣炎 | Bacterial vaginosis (BV) flora is dominated by Gardnerella vaginalis and includes many anaerobic organisms as contrasted with normal lactobacillus-dominated vaginal flora. BV flora is thought to be related ... | 細菌感染症 | ||
| H01381 | 先天性アンチトロンビン欠損症 | Inherited Antithrombin (AT) deficiency is an autosomal dominant disorder, that is associated with an increased risk for venous thromboembolism (VTE) and pregnancy loss. AT is a potent inactivator of thrombin ... | 血液疾患 | SERPINC1 [HSA:462] [KO:K03911] | |
| H01382 |
結節性多発動脈炎 血管炎・自己炎症・免疫不全・血液学的異常症候群 ADA2 欠損症 |
Polyarteritis nodosa, also known as vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS), is a systemic necrotizing vasculitis that affects medium and small muscular ... | 免疫系疾患 | CECR1 [HSA:51816] [KO:K19572] | |
| H01383 |
高リポ蛋白血症 IIa 型 LDL レセプター欠損症 |
Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol, xanthomas, and the development of premature cardiovascular disease. Hyperlipoproteinemia type ... | 先天性代謝異常症 | LDLR [HSA:3949] [KO:K12473] | |
| H01384 | ミトコンドリア劣性遺伝性運動失調症候群 | Mitochondrial recessive ataxia syndrome (MIRAS) is the mitochondrial disease, that is caused by mutations of the POLG1 gene encoding the mitochondrial DNA polymerase gamma enzyme. MIRAS includes the sensory ... | 先天性代謝異常症, ミトコンドリア病 | POLG [HSA:5428] [KO:K02332] |