白内障-小角膜综合征
Cataract-microcornea syndrome
ORPHA:1377疾病
定义 英文原文（暂无中文）
A rare syndromic, genetic cataract characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a decreased corneal diameter (inferior to 10 mm) in both meridians in an otherwise normal eye, and an inherited cataract, which is mostly bilateral posterior polar with opacification in the lens periphery that progresses to form a total cataract after visual maturity has been achieved. Association with other ocular manifestations, including myopia, iris coloboma, sclerocornea and Peters anomaly may be observed.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 新生儿期
相关基因 8
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CRYAA | crystallin alpha A | Disease-causing germline mutation(s) in |
| CRYBA4 | crystallin beta A4 | Disease-causing germline mutation(s) in |
| CRYBB2 | crystallin beta B2 | 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 |
| GJA8 | gap junction protein alpha 8 | Disease-causing germline mutation(s) in |
| CRYBB1 | crystallin beta B1 | Disease-causing germline mutation(s) in |
| MAF | MAF bZIP transcription factor | Disease-causing germline mutation(s) in |
临床表型 7
极常见 99–80%2
- 白内障 HP:0000518
- 小角膜 HP:0000482
常见 79–30%1
- 近视 HP:0000545
偶见 29–5%4
- 角膜营养不良 HP:0001131
- 角膜混浊 HP:0007957
- 虹膜缺损 HP:0000612
- 眼球震颤 HP:0000639
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）