远端型肌病
Distal myopathy
ORPHA:599疾病组
定义 英文原文（暂无中文）
Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands.
别名
远端型肌营养不良症
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 1 000 000（United Kingdom）
相关基因 22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 |
|---|---|---|
| ABCD3 | ATP binding cassette subfamily D member 3 | ORPHA:98897 |
| ADSS1 | adenylosuccinate synthase 1 | ORPHA:482601 |
| ANO5 | anoctamin 5 | ORPHA:399096 |
| CAV3 | caveolin 3 | ORPHA:488650 |
| CRYAB | crystallin alpha B | ORPHA:399058 |
| DYSF | dysferlin | ORPHA:45448 |
| FLNC | filamin C | ORPHA:63273 |
| GIPC1 | GIPC PDZ domain containing family member 1 | ORPHA:98897 |
| HNRNPA1 | heterogeneous nuclear ribonucleoprotein A1 | ORPHA:399086 |
| KLHL9 | kelch like family member 9 | ORPHA:399081 |
| LDB3 | LIM domain binding 3 | ORPHA:98912 |
| LRP12 | LDL receptor related protein 12 | ORPHA:98897 |
| MATR3 | matrin 3 | ORPHA:600 |
| MYH7 | myosin heavy chain 7 | ORPHA:59135 |
| MYOT | myotilin | ORPHA:98911 |
| NEB | nebulin | ORPHA:399103 |
| NOTCH2NLC | notch 2 N-terminal like C | ORPHA:98897 |
| NUTM2B-AS1 | NUTM2B antisense RNA 1 | ORPHA:98897 |
| RILPL1 | Rab interacting lysosomal protein like 1 | ORPHA:98897 |
| TIA1 | TIA1 cytotoxic granule associated RNA binding protein | ORPHA:603 |
| TTN | titin | ORPHA:609 |
| VCP | valosin containing protein | ORPHA:329478 |
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）