甲硫氨酸循环和含硫氨基酸代谢异常
Disorder of methionine cycle and sulfur amino acid metabolism
ORPHA:79173疾病组
别名
胞质甲基转移或硫氨基酸代谢紊乱
相关基因 17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 |
| AHCY | adenosylhomocysteinase | ORPHA:88618 |
| CBS | cystathionine beta-synthase | ORPHA:394 |
| CTH | cystathionine gamma-lyase | ORPHA:212 |
| GNMT | glycine N-methyltransferase | ORPHA:289891 |
| GPHN | gephyrin | ORPHA:308400 |
| HCFC1 | host cell factor C1 | ORPHA:369962 |
| LMBRD1 | LMBR1 domain containing 1 | ORPHA:79284 |
| MAT1A | methionine adenosyltransferase 1A | ORPHA:168598 |
| MMACHC | metabolism of cobalamin associated C | ORPHA:79282 |
| MMADHC | metabolism of cobalamin associated D | ORPHA:79283 |
| MOCS1 | molybdenum cofactor synthesis 1 | ORPHA:308386 |
| MOCS2 | molybdenum cofactor synthesis 2 | ORPHA:308393 |
| MTHFR | methylenetetrahydrofolate reductase | ORPHA:395 |
| MTR | 5-methyltetrahydrofolate-homocysteine methyltransferase | ORPHA:2170 |
| MTRR | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | ORPHA:2169 |
| SUOX | sulfite oxidase | ORPHA:99731 |
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）