腓骨肌萎缩症4型
Charcot-Marie-Tooth disease type 4
ORPHA:64749疾病组
定义 英文原文（暂无中文）
A group of autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT) characterized by progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. CMT4 is usually more severe than other forms of CMT, and the onset occurs earlier.
别名
常染色体隐性遗传性脱髓鞘Charcot-Marie-Tooth病
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期、婴儿期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 12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 |
|---|---|---|
| EGR2 | early growth response 2 | ORPHA:99951 |
| FGD4 | FYVE, RhoGEF and PH domain containing 4 | ORPHA:99954 |
| FIG4 | FIG4 phosphoinositide 5-phosphatase | ORPHA:139515 |
| GDAP1 | ganglioside induced differentiation associated protein 1 | ORPHA:99948 |
| HK1 | hexokinase 1 | ORPHA:99953 |
| MTMR2 | myotubularin related protein 2 | ORPHA:99955 |
| NDRG1 | N-myc downstream regulated 1 | ORPHA:99950 |
| PRX | periaxin | ORPHA:99952 |
| SBF1 | SET binding factor 1 | ORPHA:363981 |
| SBF2 | SET binding factor 2 | ORPHA:99956 |
| SH3TC2 | SH3 domain and tetratricopeptide repeats 2 | ORPHA:99949 |
| SURF1 | SURF1 cytochrome c oxidase assembly factor | ORPHA:391351 |
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）