典型有机酸尿症
Classic organic aciduria
ORPHA:79163疾病组
相关基因 29来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ABCD4 | ATP binding cassette subfamily D member 4 | ORPHA:369955 |
| ACAD8 | acyl-CoA dehydrogenase family member 8 | ORPHA:79159 |
| ACADSB | acyl-CoA dehydrogenase short/branched chain | ORPHA:79157 |
| ACAT1 | acetyl-CoA acetyltransferase 1 | ORPHA:134 |
| ACSF3 | acyl-CoA synthetase family member 3 | ORPHA:289504 |
| AUH | AU RNA binding methylglutaconyl-CoA hydratase | ORPHA:67046 |
| BTD | biotinidase | ORPHA:79241 |
| DNAJC19 | DnaJ heat shock protein family (Hsp40) member C19 | ORPHA:66634 |
| HCFC1 | host cell factor C1 | ORPHA:369962 |
| HIBCH | 3-hydroxyisobutyryl-CoA hydrolase | ORPHA:88639 |
| HLCS | holocarboxylase synthetase | ORPHA:79242 |
| HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase | ORPHA:20 |
| HTRA2 | HtrA serine peptidase 2 | ORPHA:505208 |
| IVD | isovaleryl-CoA dehydrogenase | ORPHA:33 |
| LMBRD1 | LMBR1 domain containing 1 | ORPHA:79284 |
| MCCC1 | methylcrotonyl-CoA carboxylase subunit 1 | ORPHA:6 |
| MCCC2 | methylcrotonyl-CoA carboxylase subunit 2 | ORPHA:6 |
| MICOS13 | mitochondrial contact site and cristae organizing system subunit 13 | ORPHA:67047 |
| MMAA | metabolism of cobalamin associated A | ORPHA:79310 |
| MMAB | metabolism of cobalamin associated B | ORPHA:79311 |
| MMACHC | metabolism of cobalamin associated C | ORPHA:79282 |
| MMADHC | metabolism of cobalamin associated D | ORPHA:79283 |
| MMUT | methylmalonyl-CoA mutase | ORPHA:289916 |
| OPA3 | outer mitochondrial membrane lipid metabolism regulator OPA3 | ORPHA:67047 |
| PCCA | propionyl-CoA carboxylase subunit alpha | ORPHA:35 |
| PCCB | propionyl-CoA carboxylase subunit beta | ORPHA:35 |
| SERAC1 | serine active site containing 1 | ORPHA:352328 |
| TAFAZZIN | tafazzin, phospholipid-lysophospholipid transacylase | ORPHA:111 |
| TIMM50 | translocase of inner mitochondrial membrane 50 | ORPHA:505216 |
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）