眼皮肤白化病
Oculocutaneous albinism
ORPHA:55疾病组
定义 英文原文（暂无中文）
A group of rare genetic hypopigmentation disorders characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6, OCA7 and OCA8.
别名
OCA
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 100 000
相关基因 7来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| DCT | dopachrome tautomerase | ORPHA:597733 |
| LRMDA | leucine rich melanocyte differentiation associated | ORPHA:352745 |
| OCA2 | OCA2 melanosomal transmembrane protein | ORPHA:79432 |
| SLC24A5 | solute carrier family 24 member 5 | ORPHA:370097 |
| SLC45A2 | solute carrier family 45 member 2 | ORPHA:79435 |
| TYR | tyrosinase | ORPHA:79431 |
| TYRP1 | tyrosinase related protein 1 | ORPHA:79433 |
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）