播散性浅表光线性汗孔角化病
Disseminated superficial actinic porokeratosis
ORPHA:79152疾病
定义 英文原文（暂无中文）
A rare skin disease that is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、成年期、儿童期、老年期
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MVK | mevalonate kinase | Disease-causing germline mutation(s) in |
| SLC17A9 | solute carrier family 17 member 9 | Disease-causing germline mutation(s) in |
| MVD | mevalonate diphosphate decarboxylase | Disease-causing germline mutation(s) in |
| FDPS | farnesyl diphosphate synthase | Disease-causing germline mutation(s) in |
临床表型 4
极常见 99–80%1
- 汗孔角化病 HP:0200044
常见 79–30%1
- 光感性皮肤 HP:0000992
偶见 29–5%2
- 瘙痒 HP:0000989
- 鳞状细胞癌 HP:0002860
外部标识与链接
OrphanetOMIM:175900OMIM:607728OMIM:612293MONDO:0019212GARD:10983ICD-10 Q82.8ICD-11 ED52ClinicalTrials.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）