远端型遗传性运动神经病2型
Distal hereditary motor neuropathy type 2
ORPHA:139525疾病
定义 英文原文（暂无中文）
A rare autosomal dominant distal hereditary motor neuropathy characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. Sensory involvement is typically less pronounced or absent. The severity of the condition is variable, and both lower and upper extremities may be involved.
别名
远端脊髓性肌萎缩症2型
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、成年期
- 患病率
- <1 / 1 000 000
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HSPB1 | heat shock protein family B (small) member 1 | Disease-causing germline mutation(s) in |
| HSPB8 | heat shock protein family B (small) member 8 | Disease-causing germline mutation(s) in |
| HSPB3 | heat shock protein family B (small) member 3 | Disease-causing germline mutation(s) in |
| FBXO38 | F-box protein 38 | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:158590OMIM:608634OMIM:613376MONDO:0015352ICD-10 G12.2ICD-11 8B61.4ClinicalTrials.gov 检索
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）