RASA1-related capillary malformation-arteriovenous malformation
ORPHA:693907疾病暂无中文名
定义 英文原文（暂无中文）
A rare capillary malformation-arteriovenous malformation characterized by single or multiple cutaneous lesions ranging from round to oval shape with pinkish to purplish-red or reddish-brown macules, randomly distributed over the body. Perilesional pale halo are usually detected on the skin. These lesions may occur with or without arteriovenous malformations/arteriovenous fistulas involving muscle, bone, spine and brain. Parkes Weber syndrome with segmental distribution may also be present. Most patients are asymptomatic except for the capillary malformations, the family history is often positive for capillary malformations.
别名
CM-AVM1
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| RASA1 | RAS p21 protein activator 1 | Disease-causing germline mutation(s) in |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）