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 |
|---|---|---|---|---|---|
| H00182 | シスタチオニン尿症 | Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria ... | 先天性代謝異常症 | CTH [HSA:1491] [KO:K01758] | |
| H00183 | ホモシスチン尿症 | Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. | 先天性代謝異常症 |
CBS [HSA:875] [KO:K01697] MTHFR [HSA:4524] [KO:K25004] (HMAE) MTRR [HSA:4552] [KO:K00597] (HMAG) MTR [HSA:4548] [KO:K00548] (HMAD) MMADHC [HSA:27249] [KO:K26006] |
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| H00184 | 高メチオニン血症 | Hypermethioninemia is an inborn error of methionine metabolism. | 先天性代謝異常症 |
MAT1A [HSA:4143] [KO:K00789] AHCY [HSA:191] [KO:K01251] GNMT [HSA:27232] [KO:K00552] ADK [HSA:132] [KO:K00856] |
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| H00185 | シトルリン血症 | Citrullinemia (CTLN) is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase/citrin and characterized primarily by elevated serum and urine citrulline levels. | 先天性代謝異常症 |
(CTLN1) ASS1 [HSA:445] [KO:K01940] (CTLN2) SLC25A13 [HSA:10165] [KO:K15105] |
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| H00186 | 高アルギニン血症 | Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy. | 先天性代謝異常症 | ARG1 [HSA:383] [KO:K01476] | |
| H00187 | オルニチントランスカルバミラーゼ欠損症 | Ornithine transcarbamylase deficiency, the most common urea cycle defect, results in failure to thrive, hypotonia, seizures and mental retardation. | 先天性代謝異常症 | OTC [HSA:5009] [KO:K00611] | |
| H00188 | 高リジン血症 | Hyperlysinemia is an autosomal recessive metabolic disorder caused by aminoadipate-semialdehyde synthase deficiency and characterized by an abnormal increase of lysine in the blood. | 先天性代謝異常症 | AASS [HSA:10157] [KO:K14157] | |
| H00189 | 高オルニチン血症 | Ornithinemia due to deficiency of ornithine ketoacid aminotransferase induces hyperornithinemia and gyrate atrophy. | 先天性代謝異常症 | OAT [HSA:4942] [KO:K00819] | |
| H00190 | 高プロリン血症 | Hyperprolinemia (HP) is a phenotype present in two distinct, autosomal recessive metabolic disorders caused by defects in the l-proline catabolic pathway. Hyperprolinemia type I (HPI) and type II (HPII) ... | 先天性代謝異常症 |
(HYRPRO1) PRODH [HSA:5625] [KO:K00318] (HYRPRO2) ALDH4A1 [HSA:8659] [KO:K00294] |
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| H00191 |
非ケトーシス型高グリシン血症 グリシン脳症 |
Nonketotic hyperglycinemia is an inborn error of glycine metabolism caused by a deficiency of the glycine cleavage system, which is composed of four proteins in the mitochondria and results in severe neurologic ... | 先天性代謝異常症 |
(GCE1) GLDC [HSA:2731] [KO:K00281] (GCE2) AMT [HSA:275] [KO:K00605] |
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| H00192 | キサンチン尿症 | Xanthinuria is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2) ... | 先天性代謝異常症 |
(XAN1) XDH [HSA:7498] [KO:K00106] (XAN2) MOCOS [HSA:55034] [KO:K15631] |
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| H00193 | ジヒドロピリミジン脱水素酵素欠損症 | Dihydropyrimidine dehydrogenase enzyme deficiency is a pharmacogenetic syndrome leading to severe side-effects in patients receiving therapies containing the anticancer drug 5-fluorouracil. | 先天性代謝異常症 | DPYD [HSA:1806] [KO:K00207] | |
| H00194 |
レッシュ・ナイハン症候群 ヒポキサンチン・グアニンホスホリボシルトランスフェラーゼ欠損症 |
Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological ... | 先天性代謝異常症 | HPRT1 [HSA:3251] [KO:K00760] | |
| H00195 |
アデニンホスホリボシルトランスフェラーゼ欠損症 2-8ジヒドロキシアデニン結石 |
Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine. | 先天性代謝異常症 | APRT [HSA:353] [KO:K00759] | |
| H00196 | ホスホリボシルピロリン酸合成酵素亢進症 | Phosphoribosylpyrophosphate synthetase superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. | 先天性代謝異常症 | PRPS1 [HSA:5631] [KO:K00948] | |
| H00197 | アデニロコハク酸リアーゼ欠損症 | Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures. | 先天性代謝異常症 | ADSL [HSA:158] [KO:K01756] | |
| H00198 | オロト酸尿症 | Orotic aciduria is characterized by megaloblastic anemia that is unresponsive to vitamin B12 and folic acid. | 先天性代謝異常症 | UMPS [HSA:7372] [KO:K13421] | |
| H00199 |
ジヒドロピリミジナーゼ欠損症 ジヒドロピリミジン尿症 |
Dihydropyrimidinase deficiency is characterized by dihydropyrimidinuria and is associated with seizures and mental retardation. | 先天性代謝異常症 | DPYS [HSA:1807] [KO:K01464] | |
| H00200 | βウレイドプロピオナーゼ欠損症 | Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental ... | 先天性代謝異常症 | UPB1 [HSA:51733] [KO:K01431] | |
| H00201 | 骨髄性ポルフィリン症 | Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic ... | 先天性代謝異常症 |
(EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP) UROD [HSA:7389] [KO:K01599] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
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| H00202 | 肝性ポルフィリン症 | Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic | 先天性代謝異常症 |
(PCT) UROD [HSA:7389] [KO:K01599] (AIP) HMBS [HSA:3145] [KO:K01749] (VP) PPOX [HSA:5498] [KO:K00231] (ALADP) ALAD [HSA:210] [KO:K01698] (HCP) CPOX [HSA:1371] [KO:K00228] |
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| H00203 |
無カタラーゼ血症 高原病 |
Acatalasemia, also known as acatalasia, is an autosomal recessive peroxisomal disorder caused by deficiency of erythrocyte catalase that metabolizes both hydrogen peroxide and a variety of substrates such ... | 先天性代謝異常症 | CAT [HSA:847] [KO:K03781] | |
| H00204 | Heimler 症候群 | Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss, amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been ... | 先天性代謝異常症, ペルオキシソーム病 |
(HMLR1) PEX1 [HSA:5189] [KO:K13338] (HMLR2) PEX6 [HSA:5190] [KO:K13339] |
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| H00205 | ペルオキシソーム形成異常症 | Peroxisome biogenesis disorder (PBD) is a group of lethal disorders caused by mutation of peroxisomal biogenesis factor (PEX) genes. PBDs fall into 4 main phenotypic classes; Zellweger syndrome (ZS), neonatal ... | 先天性代謝異常症, ペルオキシソーム病 |
(PBD1A/1B) PEX1 [HSA:5189] [KO:K13338] (PBD2A/2B) PEX5 [HSA:5830] [KO:K13342] (PBD3A/3B) PEX12 [HSA:5193] [KO:K13345] (PBD4A/4B) PEX6 [HSA:5190] [KO:K13339] (PBD5A/5B) PEX2 [HSA:5828] [KO:K06664] (PBD6A/6B) PEX10 [HSA:5192] [KO:K13346] (PBD7A/7B) PEX26 [HSA:55670] [KO:K13340] (PBD8A/8B) PEX16 [HSA:9409] [KO:K13335] (PBD9B) PEX7 [HSA:5191] [KO:K13341] (PBD10A) PEX3 [HSA:8504] [KO:K13336] (PBD11A/11B) PEX13 [HSA:5194] [KO:K13344] (PBD12A) PEX19 [HSA:5824] [KO:K13337] (PBD13A) PEX14 [HSA:5195] [KO:K13343] (PBD14B) PEX11B [HSA:8799] [KO:K13352] |
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| H00206 | メバロン酸キナーゼ欠損症 | Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia ... | 先天性代謝異常症 | MVK [HSA:4598] [KO:K00869] | |
| H00207 | 肢根型点状軟骨異形成症 | Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone ... | 先天性代謝異常症, ペルオキシソーム病 |
(RCDP1) PEX7 [HSA:5191] [KO:K13341] (RCDP2) GNPAT [HSA:8443] [KO:K00649] (RCDP3) AGPS [HSA:8540] [KO:K00803] (RCDP4) FAR1 [HSA:84188] [KO:K13356] (RCDP5) PEX5 [HSA:5830] [KO:K13342] |
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| H00208 | 高ビリルビン血症 | Gilbert disease and Crigler-Najjar syndromes result in unconjugated hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin ... | 先天性代謝異常症 |
(CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699] (DJS) ABCC2 [HSA:1244] [KO:K05666] (RS) SLCO1B1 [HSA:10599] [KO:K05043] (RS) SLCO1B3 [HSA:28234] [KO:K05043] |
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| H00209 | メンケス症候群 | Menkes disease (MD) is an X-linked recessive disorder of copper deficiency caused by mutation of a copper-transporting P-type ATPase, resulting in dysfunction of copper-dependent enzymes. The patients ... | 先天性代謝異常症 | ATP7A [HSA:538] [KO:K17686] | |
| H00210 |
ウィルソン病 肝レンズ核変性症 |
Wilson disease is an autosomal recessive disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper ... | 先天性代謝異常症 | ATP7B [HSA:540] [KO:K17686] | |
| H00211 | ヘモクロマトーシス | Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body. | 先天性代謝異常症 |
(HFE1) HFE [HSA:3077] [KO:K26535] (HFE2A) HJV [HSA:148738] [KO:K23100] (HFE2B) HAMP [HSA:57817] [KO:K23106] (HFE3) TFR2 [HSA:7036] [KO:K23910] (HFE4) SLC40A1 [HSA:30061] [KO:K14685] (HFE5) FTH1 [HSA:2495] [KO:K00522] |