钴胺素代谢和转运异常
Disorder of cobalamin metabolism and transport
ORPHA:79171疾病组
相关基因 15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 |
| AMN | amnion associated transmembrane protein | ORPHA:35858 |
| CBLIF | cobalamin binding intrinsic factor | ORPHA:332 |
| CD320 | CD320 molecule | ORPHA:280183 |
| CUBN | cubilin | ORPHA:35858 |
| HCFC1 | host cell factor C1 | ORPHA:369962 |
| LMBRD1 | LMBR1 domain containing 1 | ORPHA:79284 |
| 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 |
| MTR | 5-methyltetrahydrofolate-homocysteine methyltransferase | ORPHA:2170 |
| MTRR | 5-methyltetrahydrofolate-homocysteine methyltransferase reductase | ORPHA:2169 |
| TCN1 | transcobalamin 1 | ORPHA:2967 |
| TCN2 | transcobalamin 2 | ORPHA:859 |
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）