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 |
|---|---|---|---|---|---|
| H01234 | トリメチルアミン尿症 | Trimethylaminuria (TMAU), also known as fish odour syndrome, is a metabolic disorder. TMAU usually presents with a body odour resembling that of rotten or decaying fish, the result of excess excretion ... | 先天性代謝異常症 | FMO3 [HSA:2328] [KO:K00485] | |
| H01235 | 血小板型出血性疾患 | Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these ... | 血液疾患 |
(BDPLT5/QPD) PLAU [HSA:5328] [KO:K01348] (BDPLT8) P2RY12 [HSA:64805] [KO:K04298] (BDPLT11) GP6 [HSA:51206] [KO:K06264] (BDPLT13) TBXA2R [HSA:6915] [KO:K04264] (BDPLT15) ACTN1 [HSA:87] [KO:K05699] (BDPLT16) ITGA2B [HSA:3674] [KO:K06476] (BDPLT17) GFI1B [HSA:8328] [KO:K09223] (BDPLT18) RASGRP2 [HSA:10235] [KO:K12361] (BDPLT19) PRKACG [HSA:5568] [KO:K04345] (BDPLT20) SLFN14 [HSA:342618] [KO:K24445] (BDPLT21) FLI1 [HSA:2313] [KO:K09436] (BDPLT22) EPHB2 [HSA:2048] [KO:K05111] (BDPLT24) ITGB3 [HSA:3690] [KO:K06493] (BDPLT25) TPM4 [HSA:7171] [KO:K10375] ITGA2 [HSA:3673] [KO:K06481] |
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| H01236 | 家族性関節軟骨石灰化症 | Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular ... | 筋骨格疾患 | ANKH [HSA:56172] [KO:K22734] | |
| H01237 | 亜硫酸オキシダーゼ欠損症 | Sulfite oxidase deficiency is a rare inherited disease with severe neurological symptoms such as intractable neonatal or infantile seizures, hypotonia or hypertonia, feeding difficulties, profound developmental ... | 先天性代謝異常症 | (ISOD) SUOX [HSA:6821] [KO:K00387] | |
| H01238 | Phelan-McDermid 症候群 | Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly ... | 染色体異常 | SHANK3 [HSA:85358] [KO:K15009] | |
| H01239 | プロサポシン欠損症 | Combined SAP deficiency is a fatal infantile lysosomal storage disorder with hepatosplenomegaly and severe neurological disease. It is caused by mutations in the PSAP gene leading to absence or non-functionality ... | 先天性代謝異常症, ライソゾーム病 | PSAP [HSA:5660] [KO:K12382] | |
| H01240 | 自己免疫性血小板減少性紫斑病 | Immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder, and the most common cause of isolated thrombocytopenia in children. Destruction of autoantibody-sensitized platelets by Fc[gamma]R-bearing ... | 免疫系疾患 | FCGR2C [HSA:9103] [KO:K16824] | |
| H01241 | 先天性横隔膜ヘルニア | Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially ... | 先天奇形 |
(DIH3) ZFPM2 [HSA:23414] [KO:K17442] (DIH4) ALDH1A2 [HSA:8854] [KO:K07249] (DIH5) PLS3 [HSA:5358] [KO:K17336] |
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| H01242 | サッカロピン尿症 | Saccharopinuria is a metabolic disorder caused by a defect in a bifunctional protein with lysine-ketoglutarate reductase (LKR) activity and saccharopine dehydrogenase (SDH) activity, aminoadipic semialdehyde ... | 先天性代謝異常症 | AASS [HSA:10157] [KO:K14157] | |
| H01243 | Huntington disease-like syndrome | Huntington disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years ... | 神経変性疾患 |
(HDL1) PRNP [HSA:5621] [KO:K05634] (HDL2) JPH3 [HSA:57338] [KO:K19530] (HDL4) TBP [HSA:6908] [KO:K03120] |
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| H01244 | T+B+ 重症複合免疫不全症 | Recently, several groups reported a novel clinical and immunological phenotype of T+B+NK+SCID (severe combined immunodeficiencies) associated with recessive RAG1 hypomorphic mutations. The immunological ... | 原発性免疫不全症 | RAG-1 [HSA:5896] [KO:K10628] | |
| H01245 | 外胚葉異形成症を伴わない免疫不全症 | A NEMO mutant causing immunodeficiency without any sign of anhidrotic ectodermal dysplasia (EDA) has been identified. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal ... | 原発性免疫不全症 | IKBKG [HSA:8517] [KO:K07210] | |
| H01246 | 非症候群性先天性ばち指 | Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the ... | 先天奇形 | HPGD [HSA:3248] [KO:K00069] | |
| H01247 | ピリドキシン依存性てんかん | Pyridoxine-dependent epilepsy (PDE) is an autosomal recessive epileptic encephalopathy characterized by a therapeutic response to pharmacological dosages of pyridoxine hydrochloride (vitamin B6) and resistance ... | 神経系疾患 | ALDH7A1 [HSA:501] [KO:K14085] | |
| H01248 | MCT1 欠損症 | Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. Patients were found to have missense mutations in monocarboxylate ... | 先天性代謝異常症 | SLC16A1 [HSA:6566] [KO:K08179] | |
| H01249 | エチルマロン酸脳症 | Ethylmalonic encephalopathy (EE) is an autosomal recessive metabolic disease caused by mutations in the ETHE1 gene. EE is characterized by early onset of neurological degeneration, chronic diarrhea, recurrent ... | 先天性代謝異常症 | ETHE1 [HSA:23474] [KO:K17725] | |
| H01250 | 遺伝性歯肉増殖症 | Hereditary gingival fibromatosis (GINGF) is a rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular ... | 消化器系疾患 |
(GINGF1) SOS1 [HSA:6654] [KO:K03099] (GINGF5) REST [HSA:5978] [KO:K09222] (GINGF6) ZNF862 [HSA:643641] [KO:K28074] |
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| H01251 | 限局性皮質異形成 II 型 | Focal cortical dysplasia of Taylor (FCDT) is a subtype of cortical displasias. FCDT is characterized by epilepsy associated malformations that are often composed of balloon cells and dysplastic neurons ... | 先天奇形 |
MTOR [HSA:2475] [KO:K07203] TSC1 [HSA:7248] [KO:K07206] TSC2 [HSA:7249] [KO:K07207] |
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| H01252 | 先天性葉酸吸収不全 | Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder caused by impaired intestinal folate absorption. HFM is characterized by anemia, hypoimmunoglobulinemia, and recurrent infections ... | 先天性代謝異常症 | SLC46A1 [HSA:113235] [KO:K14613] | |
| H01253 | 卵胞刺激ホルモン単独欠損症 | Isolated follicle-stimulating hormone deficiency (IFSHD) can be caused by mutations in the gene encoding the beta chain of follicle-stimulating hormone (FSH). FSH is essential for normal puberty and fertility ... | 内分泌代謝疾患 | FSHB [HSA:2488] [KO:K05250] | |
| H01254 | プロトロンビン欠乏症 | Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated ... | 血液疾患 | F2 [HSA:2147] [KO:K01313] | |
| H01255 |
若年発症型ジストニー Dystonia-deafness syndrome 1 |
Juvenile-onset dystonia, also known as Dystonia-deafness syndrome 1 (DDS1), is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation ... | 先天奇形 | ACTB [HSA:60] [KO:K05692] | |
| H01256 | 中心窩低形成 | Foveal hypoplasia (FVH) is characterized by absence or abnormal foveomacular reflex, unclear definition of the foveomacular area, and presence of capillaries running abnormally close to the macula. It ... | 神経系疾患 |
(FVH1) PAX6 [HSA:5080] [KO:K08031] (FVH2) SLC38A8 [HSA:146167] [KO:K14994] (FVH3) AHR [HSA:196] [KO:K09093] |
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| H01257 | GABA トランスアミナーゼ欠損症 | GABA-transaminase deficiency is a very rare inborn error of GABA degradation. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures ... | 先天性代謝異常症 | ABAT [HSA:18] [KO:K13524] | |
| H01258 | 全般てんかん及び発作性ジスキネジア | Epilepsy is one of the most common and debilitating neurological disorders, and paroxysmal dyskinesia is another heterogeneous group of neurological disorders characterized by sudden, unpredictable, disabling ... | 神経系疾患 | KCNMA1 [HSA:3778] [KO:K04936] | |
| H01259 | 巨大軸索性ニューロパチー | Giant axonal neuropathy is a disorder that shows giant axons, caused by accumulation of neurofilaments. Giant axonal neuropathy 1 (GAN1) is autosomal recessively inherited and caused by mutations in GAN ... | 神経変性疾患 |
(GAN1) GAN [HSA:8139] [KO:K10453] (GAN2) DCAF8 [HSA:50717] [KO:K11804] |
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| H01260 | フィブロネクチン腎症 | Glomerulopathy with fibronectin deposits (GFND) is a hereditary kidney disease with proteinuria, microscopic hematuria, and hypertension that lead to end-stage renal failure in the second to sixth decade ... | 泌尿器系疾患 | FN1 [HSA:2335] [KO:K05717] | |
| H01261 | 先天性グルコース・ガラクトース吸収不全症 | Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder that is due to mutations in the gene coding for the sodium-glucose cotransporter (SGLT1/SLC5A1). GGM is characterized by neonatal ... | 先天性代謝異常症 | SLC5A1 [HSA:6523] [KO:K14158] | |
| H01262 | ホルムイミノトランスフェラーゼ欠損症 | Formiminotransferase deficiency is an autosomal recessive disorder of folate metabolism. It is due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). Features of ... | 先天性代謝異常症 | FTCD [HSA:10841] [KO:K13990] | |
| H01263 |
進行性心臓伝導障害 進行性家族性心臓ブロック |
Progressive cardiac conduction defect (PCCD) is a cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system. It leads to complete atrioventricular ... | 循環器系疾患 |
(PFHB1A) SCN5A [HSA:6331] [KO:K04838] (PFHB1B) TRPM4 [HSA:54795] [KO:K04979] |