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 |
|---|---|---|---|---|---|
| H00152 | シトステロール血症 | Sitosterolemia is an autosomal recessive lipid disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption ... | 先天性代謝異常症 |
(STSL1) ABCG8 [HSA:64241] [KO:K05684] (STSL2) ABCG5 [HSA:64240] [KO:K05683] |
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| H00153 | 家族性複合型高脂血症 | Familial combined hyperlipidemia (FCHL) is linked and associated with the gene encoding upstream transcription factor 1 (USF1) and characterized by elevated levels of serum total cholesterol, triglycerides ... | 先天性代謝異常症 |
(FCHL1) USF1 [HSA:7391] [KO:K09106] (FCHL3) LPL [HSA:4023] [KO:K01059] |
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| H00154 | 高リポ蛋白血症 I 型 | Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and ... | 先天性代謝異常症 |
LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001] |
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| H00155 | 家族性高コレステロール血症 | Familial hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation ... | 先天性代謝異常症 |
(FHCL1) LDLR [HSA:3949] [KO:K12473] (FHCL1) EPHX2 [HSA:2053] [KO:K08726] (FHCL1) GHR [HSA:2690] [KO:K05080] (FHCL1) PPP1R17 [HSA:10842] [KO:K08067] (FHCL1) APOA2 [HSA:336] [KO:K08758] (FHCL2) APOB [HSA:338] [KO:K14462] (FHCL3) PCSK9 [HSA:255738] [KO:K13050] (FHCL4) LDLRAP1 [HSA:26119] [KO:K12474] |
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| H00156 |
高リポ蛋白血症 III 型 異常βリポ蛋白血症 |
Hyperlipoproteinemia type III is an autosomal recessive disorder characterized by the accumulation of intermediate-density lipoprotein due to mutation of apolipoprotein E. | 先天性代謝異常症 | APOE [HSA:348] [KO:K04524] | |
| H00157 | 高リポ蛋白血症 V 型 | Type V hyperlipoproteinemia is a hereditary disorder characterized by an increase of chylomicrons and VLDL and a decrease of LDL and HDL in the plasma after a fast. It has been reported that mutations ... | 先天性代謝異常症 | APOA5 [HSA:116519] [KO:K09025] | |
| H00158 | レシチンコレステロールアシルトランスフェラーゼ欠損症 | Lecithin:cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue ... | 先天性代謝異常症 | LCAT [HSA:3931] [KO:K00650] | |
| H00159 | タンジール病 | Tangier disease is an autosomal recessive disorder caused by mutation of ABCA1 gene leading to the accumulation of cholesterol in tissue macrophages and prevalent atherosclerosis. | 先天性代謝異常症 | ABCA1 [HSA:19] [KO:K05641] | |
| H00160 |
無βリポタンパク血症 バッセン・コーンツヴァイク病 |
Abetalipoproteinemia is an autosomal recessive disorder of lipid metabolism caused by mutation of MTTP gene involved in the transport of lipids and required in the secretion of beta-lipoproteins. | 先天性代謝異常症 | MTTP [HSA:4547] [KO:K14463] | |
| H00161 | スミス・レムリ・オピッツ症候群 | Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by deficiency of 7-dehydrocholesterol reductase in cholesterol biosynthesis. | 先天性代謝異常症 | (SLOS) DHCR7 [HSA:1717] [KO:K00213] | |
| H00162 | シェーグレン・ラルソン症候群 | Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis | 先天性代謝異常症 | ALDH3A2 [HSA:224] [KO:K00128] | |
| H00163 | アルカプトン尿症 | Alkaptonuria is a rare, inherited defect of homogentisic acid 1,2-dioxygenase that leads to the widespread deposition of polymeric homogentisic acid, and clinical symptoms from degeneration of joints and ... | 先天性代謝異常症 | HGD [HSA:3081] [KO:K00451] | |
| H00164 | カルバモイルリン酸合成酵素 I 欠損症 | Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia. | 先天性代謝異常症 | CPS1 [HSA:1373] [KO:K01948] | |
| H00165 | チロシン血症 | The tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. Type I, the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH) ... | 先天性代謝異常症 |
(TYRSN1) FAH [HSA:2184] [KO:K01555] (TYRSN2) TAT [HSA:6898] [KO:K00815] (TYRSN3) HPD [HSA:3242] [KO:K00457] |
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| H00166 | ヘルマンスキー・パドラック症候群 | Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding. | 先天性代謝異常症 |
(HPS1) HPS1 [HSA:3257] [KO:K20193] (HPS2) AP3B1 [HSA:8546] [KO:K12397] (HPS3) HPS3 [HSA:84343] [KO:K20190] (HPS4) HPS4 [HSA:89781] [KO:K20194] (HPS5) HPS5 [HSA:11234] [KO:K20191] (HPS6) HPS6 [HSA:79803] [KO:K20192] (HPS7) DTNBP1 [HSA:84062] [KO:K20189] (HPS8) BLOC1S3 [HSA:388552] [KO:K20186] (HPS9) BLOC1S6 [HSA:26258] [KO:K20188] (HPS10) AP3D1 [HSA:8943] [KO:K12396] (HPS11) BLOC1S5 [HSA:63915] [KO:K20187] |
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| H00167 |
フェニルケトン尿症 高フェニルアラニン血症 |
Phenylketonuria (PKU) is one of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine ... | 先天性代謝異常症 |
(PKU) PAH [HSA:5053] [KO:K00500] (HPABH4A) PTS [HSA:5805] [KO:K01737] (HPABH4B) GCH1 [HSA:2643] [KO:K01495] (HPABH4C) QDPR [HSA:5860] [KO:K00357] (HPABH4D) PCBD1 [HSA:5092] [KO:K01724] (HPANBH4) DNAJC12 [HSA:56521] [KO:K09532] |
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| H00168 | 眼皮膚白皮症 | Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. | 先天性代謝異常症 |
(OCA1) TYR [HSA:7299] [KO:K00505] (OCA2) OCA2 [HSA:4948] [KO:K24200] (OCA2) MC1R [HSA:4157] [KO:K04199] (OCA3) TYRP1 [HSA:7306] [KO:K00506] (OCA4) SLC45A2 [HSA:51151] [KO:K15378] (OCA6) SLC24A5 [HSA:283652] [KO:K13753] (OCA7) LRMDA [HSA:83938] [KO:K24399] (OCA8) DCT [HSA:1638] [KO:K01827] |
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| H00169 |
眼白子症 ワールデンブルグ症候群 II 型 |
Ocular albinism type I is an X-linked disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type ... | 先天性代謝異常症 |
(OA1) GPR143 [HSA:4935] [KO:K08470] (WS2A) MITF [HSA:4286] [KO:K09455] |
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| H00170 | まだら症 | Piebaldism is caused by mutations of kit proto-oncogene implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected ... | 先天性代謝異常症 | (PBT) KIT [HSA:3815] [KO:K05091] | |
| H00171 | ヒスチジン血症 | Histidinemia is an autosomal recessive disorder resulting from histidase deficiency. It results in increased histidine and histamine in blood, and decreased urocanic acid in blood and skin. | 先天性代謝異常症 | HAL [HSA:3034] [KO:K01745] | |
| H00172 | メープルシロップ尿症 | Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by a defect in the oxidative decarboxylation of branched-chain amino acids (BCAA) leading to mental and physical retardation ... | 先天性代謝異常症 |
(MSUD1A) BCKDHA [HSA:593] [KO:K00166] (MSUD1B) BCKDHB [HSA:594] [KO:K00167] (MSUD2) DBT [HSA:1629] [KO:K09699] (DLDD) DLD [HSA:1738] [KO:K00382] (MSUDMV) PPM1K [HSA:152926] [KO:K17505] |
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| H00173 | イソ吉草酸血症 | Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase resulting in the accumulation of derivatives ... | 先天性代謝異常症 | IVD [HSA:3712] [KO:K00253] | |
| H00174 |
メチルマロン酸尿症 メチルマロン酸血症 |
Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of ... | 先天性代謝異常症 |
(MAMM) MMUT [HSA:4594] [KO:K01847] (MACA) MMAA [HSA:166785] [KO:K07588] (MACB) MMAB [HSA:326625] [KO:K00798] (MACD) MMADHC [HSA:27249] [KO:K26006] (MATR) CD320 [HSA:51293] [KO:K06734] (MCE) MCEE [HSA:84693] [KO:K05606] |
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| H00175 | プロピオン酸血症 | Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism. | 先天性代謝異常症 |
PCCA [HSA:5095] [KO:K01965] PCCB [HSA:5096] [KO:K01966] |
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| H00176 | 副腎白質ジストロフィー | Adrenoleukodystrophy (ALD) is an X-linked disorder caused by mutation in the ABCD1 gene that encodes ABCD1/ALDP, a peroxisomal ABC transporter. ALD is biochemically characterized by the accumulation of ... | 先天性代謝異常症, ペルオキシソーム病 | ABCD1 [HSA:215] [KO:K05675] | |
| H00177 | 新生児型副腎白質ジストロフィー | The neonatal form of adrenoleukodystrophy (NALD) and Infantile Refsum disease (IRD) are milder form of Zellweger syndrome spectrum (ZSS) disorders. They are caused by defects in one of PEX genes, which ... | 先天性代謝異常症, ペルオキシソーム病 |
(PBD1B) PEX1 [HSA:5189] [KO:K13338] (PBD2B) PEX5 [HSA:5830] [KO:K13342] (PBD3B) PEX12 [HSA:5193] [KO:K13345] (PBD4B) PEX6 [HSA:5190] [KO:K13339] (PBD5B) PEX2 [HSA:5828] [KO:K06664] (PBD6B) PEX10 [HSA:5192] [KO:K13346] (PBD7B) PEX26 [HSA:55670] [KO:K13340] (PBD8B) PEX16 [HSA:9409] [KO:K13335] (PBD9B) PEX7 [HSA:5191] [KO:K13341] (PBD10B) PEX3 [HSA:8504] [KO:K13336] (PBD14B) PEX11B [HSA:8799] [KO:K13352] |
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| H00178 | グルタル酸血症 | Glutaric aciduria type I (GA1) is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase leading to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary ... | 先天性代謝異常症 |
(GA1) GCDH [HSA:2639] [KO:K00252] (GA2A) ETFA [HSA:2108] [KO:K03522] (GA2B) ETFB [HSA:2109] [KO:K03521] (GA2C) ETFDH [HSA:2110] [KO:K00311] (GA3) SUGCT [HSA:79783] [KO:K18703] |
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| H00179 | 3-ヒドロキシ-3-メチルグルタリルCoAリアーゼ欠損症 | 3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia ... | 先天性代謝異常症 | HMGCL [HSA:3155] [KO:K01640] | |
| H00180 |
ホロカルボキシラーゼ合成酵素欠損症 複合カルボキシラーゼ欠損症 |
Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder of biotin metabolism that results from holocarboxylase synthetase activity disruption. HLCS deficiency is also called multiple ... | 先天性代謝異常症 | HLCS [HSA:3141] [KO:K01942] | |
| H00181 |
3-メチルクロトニルグリシン尿症 3-メチルクロトニル-CoA カルポキシラーゼ欠損症 |
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with a variable phenotype. | 先天性代謝異常症 |
(MCC1D) MCCC1 [HSA:56922] [KO:K01968] (MCC2D) MCCC2 [HSA:64087] [KO:K01969] |