早发性全白内障
Total early-onset cataract
ORPHA:98994疾病亚型
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
相关基因 17
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CRYAA | crystallin alpha A | Disease-causing germline mutation(s) in |
| CRYBB2 | crystallin beta B2 | Disease-causing germline mutation(s) in |
| GJA8 | gap junction protein alpha 8 | 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 |
| NHS | NHS actin remodeling regulator | Candidate gene tested in |
| LIM2 | lens intrinsic membrane protein 2 | 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 |
| AGK | acylglycerol kinase | Disease-causing germline mutation(s) in |
| CRYGB | crystallin gamma B | Disease-causing germline mutation(s) in |
| GCNT2 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Disease-causing germline mutation(s) in |
| LSS | lanosterol synthase | Disease-causing germline mutation(s) in |
| SIPA1L3 | signal induced proliferation associated 1 like 3 | Disease-causing germline mutation(s) in |
| LEMD2 | LEM domain nuclear envelope protein 2 | Disease-causing germline mutation(s) in |
| PGRMC1 | progesterone receptor membrane component 1 | Disease-causing germline mutation(s) in |
| DNMBP | dynamin binding protein | Disease-causing germline mutation(s) (loss of function) in |
外部标识与链接
OrphanetOMIM:601547OMIM:616509OMIM:618415MONDO:0021548GARD:1159ICD-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）