家族性扩张型心肌病
Familial dilated cardiomyopathy
ORPHA:217607疾病组
相关基因 31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 |
|---|---|---|
| DES | desmin | ORPHA:98909 |
| DMD | dystrophin | ORPHA:206546 |
| DNAJC30 | DnaJ heat shock protein family (Hsp40) member C30 | ORPHA:104 |
| DOLK | dolichol kinase | ORPHA:91131 |
| EMD | emerin | ORPHA:98863 |
| EYA4 | EYA transcriptional coactivator and phosphatase 4 | ORPHA:217622 |
| FHL1 | four and a half LIM domains 1 | ORPHA:98863 |
| FKTN | fukutin | ORPHA:206554 |
| LMNA | lamin A/C | ORPHA:98853 |
| MT-ATP6 | mitochondrially encoded ATP synthase membrane subunit 6 | ORPHA:104 |
| MT-CO3 | mitochondrially encoded cytochrome c oxidase III | ORPHA:104 |
| MT-CYB | mitochondrially encoded cytochrome b | ORPHA:104 |
| MT-ND1 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | ORPHA:104 |
| MT-ND2 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | ORPHA:104 |
| MT-ND4 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | ORPHA:104 |
| MT-ND4L | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | ORPHA:104 |
| MT-ND5 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | ORPHA:104 |
| MT-ND6 | mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | ORPHA:104 |
| MYH7 | myosin heavy chain 7 | ORPHA:636965 |
| NDUFS2 | NADH:ubiquinone oxidoreductase core subunit S2 | ORPHA:104 |
| PGM1 | phosphoglucomutase 1 | ORPHA:319646 |
| RRM2B | ribonucleotide reductase regulatory TP53 inducible subunit M2B | ORPHA:480 |
| SGCA | sarcoglycan alpha | ORPHA:62 |
| SGCB | sarcoglycan beta | ORPHA:119 |
| SGCD | sarcoglycan delta | ORPHA:219 |
| SGCG | sarcoglycan gamma | ORPHA:353 |
| SYNE1 | spectrin repeat containing nuclear envelope protein 1 | ORPHA:98853 |
| SYNE2 | spectrin repeat containing nuclear envelope protein 2 | ORPHA:98853 |
| TAFAZZIN | tafazzin, phospholipid-lysophospholipid transacylase | ORPHA:111 |
| TMEM43 | transmembrane protein 43 | ORPHA:98853 |
| TTN | titin | ORPHA:289377 |
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）