早发性部分白内障
Early-onset partial cataract
ORPHA:98992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 28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 |
|---|---|---|
| BFSP1 | beaded filament structural protein 1 | ORPHA:98991 |
| BFSP2 | beaded filament structural protein 2 | ORPHA:98985 |
| CHMP4B | charged multivesicular body protein 4B | ORPHA:441447 |
| CRYAA | crystallin alpha A | ORPHA:98988 |
| CRYAB | crystallin alpha B | ORPHA:98991 |
| CRYBA1 | crystallin beta A1 | ORPHA:98985 |
| CRYBA2 | crystallin beta A2 | ORPHA:98988 |
| CRYBA4 | crystallin beta A4 | ORPHA:441452 |
| CRYBB1 | crystallin beta B1 | ORPHA:98991 |
| CRYBB2 | crystallin beta B2 | ORPHA:441447 |
| CRYBB3 | crystallin beta B3 | ORPHA:98988 |
| CRYGB | crystallin gamma B | ORPHA:98988 |
| CRYGC | crystallin gamma C | ORPHA:98991 |
| CRYGD | crystallin gamma D | ORPHA:98989 |
| CRYGS | crystallin gamma S | ORPHA:98985 |
| EPHA2 | EPH receptor A2 | ORPHA:441447 |
| FYCO1 | FYVE and coiled-coil domain autophagy adaptor 1 | ORPHA:98991 |
| GJA3 | gap junction protein alpha 3 | ORPHA:98991 |
| GJA8 | gap junction protein alpha 8 | ORPHA:98985 |
| HSF4 | heat shock transcription factor 4 | ORPHA:441452 |
| LEMD2 | LEM domain nuclear envelope protein 2 | ORPHA:441447 |
| MAF | MAF bZIP transcription factor | ORPHA:98989 |
| MIP | major intrinsic protein of lens fiber | ORPHA:98989 |
| NHS | NHS actin remodeling regulator | ORPHA:98991 |
| PANK4 | pantothenate kinase 4 (inactive) | ORPHA:98993 |
| PITX3 | paired like homeodomain 3 | ORPHA:98993 |
| UNC45B | unc-45 myosin chaperone B | ORPHA:441447 |
| WFS1 | wolframin ER transmembrane glycoprotein | ORPHA:98991 |
外部标识与链接
OrphanetOMIM:115660OMIM:115800OMIM:116300MONDO:0020377ICD-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)