X连锁先天性全身型多毛症
X-linked congenital generalized hypertrichosis
ORPHA:79495疾病亚型
定义 英文原文（暂无中文）
X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.
别名
先天性全身多毛症， Macias-Flores型
基本事实
- 遗传方式
- X 连锁显性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SOX3 | SRY-box transcription factor 3 | Disease-causing germline mutation(s) in |
外部标识与链接
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）