真性小眼球
Isolated complete colobomatous microphthalmia
ORPHA:35612疾病亚型
定义 英文原文（暂无中文）
A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.
别名
小眼症
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用
- 发病年龄
- 婴儿期、新生儿期
相关基因 10
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SIX6 | SIX homeobox 6 | Candidate gene tested in |
| BEST1 | bestrophin 1 | Disease-causing germline mutation(s) in |
| SOX2 | SRY-box transcription factor 2 | Disease-causing germline mutation(s) in |
| CRB1 | crumbs cell polarity complex component 1 | Disease-causing germline mutation(s) in |
| MFRP | membrane frizzled-related protein | Disease-causing germline mutation(s) in |
| OTX2 | orthodenticle homeobox 2 | Disease-causing germline mutation(s) in |
| RAX | retina and anterior neural fold homeobox | Disease-causing germline mutation(s) in |
| PRSS56 | serine protease 56 | Disease-causing germline mutation(s) in |
| ALDH1A3 | aldehyde dehydrogenase 1 family member A3 | Disease-causing germline mutation(s) in |
| TMEM98 | transmembrane protein 98 | Disease-causing germline mutation(s) in |
临床表型 6
极常见 99–80%5
- 脉络膜形态异常 HP:0000610
- 青光眼 HP:0000501
- 高度远视 HP:0008499
- 小眼症 HP:0000568
- 斜视 HP:0000486
偶见 29–5%1
- 视网膜色素异常 HP:0007703
外部标识与链接
OrphanetOMIM:600165OMIM:609549OMIM:611897MONDO:0005514ICD-10 Q11.2ICD-11 LA10.0ClinicalTrials.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）