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 |
|---|---|---|---|---|---|
| H01987 |
家族性自律神経失調症 ライリー・デイ症候群 遺伝性感覚性自律神経性ニューロパチー 3型 |
Familial dysautonomia (FD), also known as Riley day syndrome, is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems. Symptoms include decreased ... | 神経系疾患 | ELP1 [HSA:8518] [KO:K11373] | |
| H01988 | Jackson-Weiss 症候群 | Jackson-Weiss syndrome (JWS) is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. While mutations of multiple genes have been identified ... | 先天奇形 |
FGFR1 [HSA:2260] [KO:K04362] FGFR2 [HSA:2263] [KO:K05093] |
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| H01989 | Beare-Stevenson 症候群 | Beare-Stevenson cutis gyrata syndrome (BSTVS) is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, ... | 先天奇形 | FGFR2 [HSA:2263] [KO:K05093] | |
| H01990 |
Muenke 症候群 Muenke 頭蓋骨縫合早期癒合症 |
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R ... | 先天奇形 | FGFR3 [HSA:2261] [KO:K05094] | |
| H01991 | ゼーツレ‐コッツェン症候群 | Saethre-Chotzen syndrome (SCS) is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Mutations in the TWIST gene have been extensively reported ... | 先天奇形 |
TWIST1 [HSA:7291] [KO:K09069] FGFR2 [HSA:2263] [KO:K05093] |
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| H01992 |
頭蓋前頭鼻骨症候群 頭蓋前頭鼻骨異形成 |
Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by loss-of-function mutations of EFNB1. CFNS is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological ... | 先天奇形 | EFNB1 [HSA:1947] [KO:K05463] | |
| H01993 | バラー・ゲロルト症候群 | Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia and craniosynostosis. BGS is caused by mutations in the RECQL4 gene that encodes a member of the RecQ helicase family ... | 先天奇形 | RECQL4 [HSA:9401] [KO:K10730] | |
| H01994 |
ミオクローヌスてんかん Lafora型 ラフォラ病 |
Myoclonic epilepsy of Lafora (MELF), also known as Lafora disease, is an autosomal recessive and fatal form of progressive myoclonus epilepsy. MELF is characterised by epilepsy, myoclonus, progressive ... | 神経系疾患 |
(MELF1) EPM2A [HSA:7957] [KO:K14165] (MELF2) NHLRC1 [HSA:378884] [KO:K10602] |
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| H01995 |
Unverricht-Lundborg 病 進行性ミオクローヌスてんかん 1 型 |
Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy type 1 (EPM1), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 ... | 神経系疾患 | CSTB [HSA:1476] [KO:K13907] | |
| H01996 | ピルビン酸脱水素酵素ホスファターゼ欠損症 | Pyruvate dehydrogenase phosphatase (PDP) deficiency has previously been confirmed only in a few cases. PDP is an enzyme which regulates the activity of the pyruvate dehydrogenase complex. It has been reported ... | 先天性代謝異常症 | PDP1 [HSA:54704] [KO:K01102] | |
| H01997 | ピルビン酸脱水素酵素 E1α 欠損症 | Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. It can also present as a more chronic neurodegenerative disease with extensive cerebral atrophy and ... | 先天性代謝異常症 | PDHA1 [HSA:5160] [KO:K00161] | |
| H01998 | ピルビン酸脱水素酵素 E1β 欠損症 | Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. Recently, patients with PDH deficiency attributable to mutations in PDHB (E1 beta subunit) have been ... | 先天性代謝異常症 | PDHB [HSA:5162] [KO:K00162] | |
| H01999 | ピルビン酸脱水素酵素 E2 欠損症 | Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. Recently, mutations in DLAT, the gene encoding dihydrolipoamide ... | 先天性代謝異常症 | DLAT [HSA:1737] [KO:K00627] | |
| H02000 |
ジヒドロリポアミド脱水素酵素欠損症 E3 欠損症 メープルシロップ尿症 III 型 |
Dihydrolipoamide dehydrogenase (DLD) deficiency, also known as maple syrup urine disease type III, is a rare autosomal recessive disorder. DLD functions as the E3 subunit of three mitochondrial enzyme ... | 先天性代謝異常症 | DLD [HSA:1738] [KO:K00382] | |
| H02001 | 家族性偽高カリウム血症 | Familial pseudohyperkalaemia (PSHK) is an autosomal dominant red cell trait characterized by increased serum potassium in whole blood stored at or below room temperature, as a result of a temperature-based ... | 血液疾患 |
(PSHK1) PIEZO1 [HSA:9780] [KO:K22128] (PSHK2) ABCB6 [HSA:10058] [KO:K05661] |
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| H02002 | 寒冷型有口赤血球症 | Cryohydrocytosis (CHC) is an exceedingly rare condition which shows a mild stomatocytic haemolytic state with hyperbilirubinaemia. Red blood cells from patients with CHC have increased membrane permeability ... | 血液疾患 |
(CHC) SLC4A1 [HSA:6521] [KO:K06573] (SDCHCN) SLC2A1 [HSA:6513] [KO:K07299] |
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| H02003 |
ピルビン酸脱水素酵素 E3 結合タンパク欠損症 PDX1 欠損による乳酸血症 |
Defects in the pyruvate dehydrogenase (PDH) complex is a major cause of primary lactic acidosis and neurological dysfunction in infancy. E3 binding protein (E3BP, formerly Protein X) mediates association ... | 先天性代謝異常症 | PDHX [HSA:8050] [KO:K13997] | |
| H02004 |
フマラーゼ欠損症 フマル酸尿症 |
Fumarase deficiency (fumaric aciduria) is a rare autosomal recessive metabolic disorder caused by deficient activity of fumarate hydratase (FH, fumarase), one of the constituent enzymes of the Krebs tricarboxylic ... | 先天性代謝異常症 | FH [HSA:2271] [KO:K01679] | |
| H02005 |
ミトコンドリア複合体 II 欠損症 コハク酸脱水素酵素欠損症 コハク酸CoQ還元酵素欠損症 |
Mitochondrial complex II (CII, succinate dehydrogenase complex) deficiency is a rare cause of mitochondrial respiratory chain defects. CII functions in the TCA cycle and in the mitochondrial electron transport ... | 先天性代謝異常症, ミトコンドリア病 |
(MC2DN1) SDHA [HSA:6389] [KO:K00234] (MC2DN2) SDHAF1 [HSA:644096] [KO:K18167] (MC2DN3) SDHD [HSA:6392] [KO:K00237] (MC2DN4) SDHB [HSA:6390] [KO:K00235] |
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| H02006 | α ケトグルタル酸脱水素酵素複合体欠損症 | The alpha-ketoglutarate dehydrogenase complex (KGDHC) deficiency is a rare autosomal recessive disorder, most often presenting with severe encephalopathy and hyperlactatemia with neonatal onset. KGDHC ... | 先天性代謝異常症, ミトコンドリア病 |
OGDH [HSA:4967] [KO:K00164] DLD [HSA:1738] [KO:K00382] |
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| H02007 |
GRACILE 症候群 Fellman 症候群 フィンランド型致死性新生児代謝症候群 |
GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, lactic acidosis ... | 先天性代謝異常症, ミトコンドリア病 | BCS1L [HSA:617] [KO:K08900] | |
| H02008 |
ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症 古典型ガラクトース血症 ガラクトース血症 I 型 |
Galactosemia type I results from mutations in GALT encoding the galactose-1-phosphate uridylyltransferase. It is the most commonly detected clinically severe form of galactosemia. Patients may develop ... | 先天性代謝異常症 | GALT [HSA:2592] [KO:K00965] | |
| H02009 |
ガラクトキナーゼ欠損症 ガラクトース血症 II 型 |
Galactokinase deficiency is an autosomal recessive disorder, caused by mutations in the GALK1 gene. The main symptom of this disease is early onset cataracts. Galactose accumulation in the lens of the ... | 先天性代謝異常症 | GALK1 [HSA:2584] [KO:K00849] | |
| H02010 |
ガラクトースエピメラーゼ欠損症 ガラクトース血症 III 型 |
Galactose epimerase deficiency is the least understood form of galactosemia. Originally, galactose epimerase deficiency was identified as a biochemical oddity that impacted only red and white blood cells ... | 先天性代謝異常症 | GALE [HSA:2582] [KO:K01784] | |
| H02011 | 家族性若年性高尿酸血症性腎症 | Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder, which is characterized by elevated serum uric acid concentrations due to a low fractional excretion of uric acid (FEUA) ... | 先天性代謝異常症; 泌尿器系疾患 |
(HNFJ1) UMOD [HSA:7369] [KO:K18274] (HNFJ2) REN [HSA:5972] [KO:K01380] (HNFJ4) SEC61A1 [HSA:29927] [KO:K10956] |
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| H02012 | 髄質性嚢胞腎 | Medullary cystic kidney disease (MCKD) is an autosomal dominant tubulointerstitial nephropathy that causes renal salt wasting and end-stage kidney disease (ESKD). Two types of MCKD are recognized (MCKD1 ... | 先天奇形 |
(MCKD1) MUC1 [HSA:4582] [KO:K06568] (MCKD2) UMOD [HSA:7369] [KO:K18274] |
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| H02013 | グリセロールキナーゼ欠損症 | Glycerol kinase deficiency is an X-linked recessive disorder. There are two types, an isolated form and a complex form (chromosome Xp21 deletion syndrome). Isolated glycerol kinase deficiency results from ... | 先天性代謝異常症 | GK [HSA:2710] [KO:K00864] | |
| H02014 | 毛細血管拡張性運動失調様症候群 | Ataxia-telangiectasia-like disorder (ATLD) is a very rare autosomal recessive disorder, caused by mutations in Mre11 gene. Mre11 is a member of the Mre11/Rad50/Nbs1 (MRN) protein complex, that acts as ... | 免疫系疾患; 神経系疾患 |
(ATLD1) MRE11A [HSA:4361] [KO:K10865] (ATLD2) PCNA [HSA:5111] [KO:K04802] |
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| H02015 | LIG4 症候群 | LIG4 syndrome is an extremely rare autosomal recessive condition caused by mutations in the LIG4 gene which encodes DNA ligase IV. The clinical phenotype closely resembles that of Nijmegen breakage syndrome ... | 免疫系疾患 | LIG4 [HSA:3981] [KO:K10777] | |
| H02016 |
テイ・サックス病 GM2 ガングリオシドーシス I 型 |
Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXA that encodes beta hexosaminidase subunit alpha. In the absence of hexosaminidase A, GM2 ganglioside cannot ... | 先天性代謝異常症, ライソゾーム病 | HEXA [HSA:3073] [KO:K12373] |