脂肪酸氧化和酮体代谢异常
Disorder of fatty acid oxidation and ketone body metabolism
ORPHA:79174疾病组
相关基因 13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 |
|---|---|---|
| ACAD9 | acyl-CoA dehydrogenase family member 9 | ORPHA:99901 |
| ACADM | acyl-CoA dehydrogenase medium chain | ORPHA:42 |
| ACADS | acyl-CoA dehydrogenase short chain | ORPHA:26792 |
| ACADVL | acyl-CoA dehydrogenase very long chain | ORPHA:26793 |
| ACAT1 | acetyl-CoA acetyltransferase 1 | ORPHA:134 |
| CPT1A | carnitine palmitoyltransferase 1A | ORPHA:156 |
| HADHA | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | ORPHA:5 |
| HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase | ORPHA:20 |
| HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 | ORPHA:35701 |
| OXCT1 | 3-oxoacid CoA-transferase 1 | ORPHA:832 |
| SLC16A1 | solute carrier family 16 member 1 | ORPHA:438075 |
| SLC22A5 | solute carrier family 22 member 5 | ORPHA:158 |
| SLC25A20 | solute carrier family 25 member 20 | ORPHA:159 |
外部标识与链接
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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）