远端遗传性运动神经病
Distal hereditary motor neuropathy
ORPHA:53739疾病组
别名
远端脊髓肌萎缩
相关基因 14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 |
|---|---|---|
| BSCL2 | BSCL2 lipid droplet biogenesis associated, seipin | ORPHA:100998 |
| DCTN1 | dynactin subunit 1 | ORPHA:139589 |
| FBXO38 | F-box protein 38 | ORPHA:139525 |
| GARS1 | glycyl-tRNA synthetase 1 | ORPHA:139536 |
| HSPB1 | heat shock protein family B (small) member 1 | ORPHA:139525 |
| HSPB3 | heat shock protein family B (small) member 3 | ORPHA:139525 |
| HSPB8 | heat shock protein family B (small) member 8 | ORPHA:139525 |
| IGHMBP2 | immunoglobulin mu DNA binding protein 2 | ORPHA:98920 |
| PLEKHG5 | pleckstrin homology and RhoGEF domain containing G5 | ORPHA:206580 |
| REEP1 | receptor accessory protein 1 | ORPHA:139536 |
| SIGMAR1 | sigma non-opioid intracellular receptor 1 | ORPHA:139552 |
| SLC5A7 | solute carrier family 5 member 7 | ORPHA:139589 |
| TBCE | tubulin folding cofactor E | ORPHA:496756 |
| TRPV4 | transient receptor potential cation channel subfamily V member 4 | ORPHA:1216 |
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）