先天性皮肤发育不良
Aplasia cutis congenita
ORPHA:1114疾病
定义 英文原文（暂无中文）
A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. Aplasia cutis congenita (ACC) may occasionally be associated with other anomalies.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用
- 发病年龄
- 产前、新生儿期
- 患病率
- 1-5 / 10 000
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PLEC | plectin | Disease-causing germline mutation(s) in |
| ITGB4 | integrin subunit beta 4 | Disease-causing germline mutation(s) in |
| BMS1 | BMS1 ribosome biogenesis factor | Disease-causing germline mutation(s) in |
| DLL4 | delta like canonical Notch ligand 4 | Disease-causing germline mutation(s) (loss of function) in |
| UBA2 | ubiquitin like modifier activating enzyme 2 | Disease-causing germline mutation(s) in |
临床表型 13
极常见 99–80%5
- 先天性表皮发育不全 HP:0001057
- 先天性头顶部表皮发育不全 HP:0004471
- 先天性局部皮肤缺失 HP:0007383
- 颅骨缺损 HP:0001362
- 椎管闭合不全 HP:0010301
常见 79–30%1
- 皮肤溃疡 HP:0200042
偶见 29–5%7
- 骨密度异常 HP:0004348
- 红斑 HP:0010783
- 面部神经麻痹 HP:0010628
- 手指并指 HP:0006101
- 出血时间延长 HP:0003010
- 触觉超敏 HP:5200061
- 并趾 HP:0001770
外部标识与链接
OrphanetOMIM:107600OMIM:600360OMIM:619959MONDO:0007145GARD:5835ICD-10 Q84.8ICD-11 LC60ClinicalTrials.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）