单纯毛发及指甲外胚层发育不良
Pure hair and nail ectodermal dysplasia
ORPHA:69084疾病
定义 英文原文（暂无中文）
Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.
别名
头发-甲外胚层发育不良
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| KRT85 | keratin 85 | Disease-causing germline mutation(s) in |
| KRT74 | keratin 74 | Disease-causing germline mutation(s) (loss of function) in |
| HOXC13 | homeobox C13 | Disease-causing germline mutation(s) (loss of function) in |
外部标识与链接
OrphanetOMIM:602032OMIM:614927OMIM:614928MONDO:0019071ICD-10 Q82.8ICD-11 LD27.0YClinicalTrials.gov 检索
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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）