早发性片状性白内障
Early-onset lamellar cataract
ORPHA:441452疾病亚型
基本事实
- 遗传方式
- 常染色体显性
相关基因 11
| 基因 | 名称 | 关联类型 |
|---|---|---|
| BFSP2 | beaded filament structural protein 2 | Disease-causing germline mutation(s) in |
| CRYAA | crystallin alpha A | Disease-causing germline mutation(s) in |
| CRYAB | crystallin alpha B | Disease-causing germline mutation(s) in |
| CRYBA1 | crystallin beta A1 | Disease-causing germline mutation(s) in |
| CRYBA4 | crystallin beta A4 | Disease-causing germline mutation(s) in |
| CRYGC | crystallin gamma C | Disease-causing germline mutation(s) in |
| CRYGD | crystallin gamma D | Disease-causing germline mutation(s) in |
| HSF4 | heat shock transcription factor 4 | Disease-causing germline mutation(s) in |
| MIP | major intrinsic protein of lens fiber | Disease-causing germline mutation(s) in |
| CRYGS | crystallin gamma S | Disease-causing germline mutation(s) in |
| CRYGB | crystallin gamma B | Disease-causing germline mutation(s) in |
外部标识与链接
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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）