早发性核性白内障
Early-onset nuclear cataract
ORPHA:98991疾病亚型
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
相关基因 18
| 基因 | 名称 | 关联类型 |
|---|---|---|
| WFS1 | wolframin ER transmembrane glycoprotein | 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 |
| CRYBB2 | crystallin beta B2 | Disease-causing germline mutation(s) in |
| CRYBB3 | crystallin beta B3 | 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 |
| GJA3 | gap junction protein alpha 3 | Disease-causing germline mutation(s) in |
| GJA8 | gap junction protein alpha 8 | Disease-causing germline mutation(s) in |
| MIP | major intrinsic protein of lens fiber | Disease-causing germline mutation(s) in |
| CRYBB1 | crystallin beta B1 | Disease-causing germline mutation(s) in |
| NHS | NHS actin remodeling regulator | Disease-causing germline mutation(s) in |
| BFSP1 | beaded filament structural protein 1 | Disease-causing germline mutation(s) in |
| EPHA2 | EPH receptor A2 | Disease-causing germline mutation(s) in |
| FYCO1 | FYVE and coiled-coil domain autophagy adaptor 1 | Disease-causing germline mutation(s) in |
| UNC45B | unc-45 myosin chaperone B | Disease-causing germline mutation(s) in |
| CRYBA2 | crystallin beta A2 | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:116400OMIM:600881OMIM:607304MONDO:0020376ICD-10 Q12.0ICD-11 LA12.1ClinicalTrials.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）