缺损性小眼
Isolated colobomatous microphthalmia
ORPHA:98938疾病
定义
缺损性小眼球是一种以单侧或双侧小眼球伴眼缺损为特征的眼部发育障碍。
别名
小眼-无眼-眼球缺损综合征
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- 1-5 / 10 000（United Kingdom）
相关基因 13
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SIX6 | SIX homeobox 6 | Candidate gene tested in |
| SOX2 | SRY-box transcription factor 2 | Disease-causing germline mutation(s) in |
| OTX2 | orthodenticle homeobox 2 | Disease-causing germline mutation(s) in |
| STRA6 | signaling receptor and transporter of retinol STRA6 | Disease-causing germline mutation(s) in |
| PORCN | porcupine O-acyltransferase | Disease-causing germline mutation(s) in |
| VSX2 | visual system homeobox 2 | Disease-causing germline mutation(s) in |
| RAX | retina and anterior neural fold homeobox | Disease-causing germline mutation(s) in |
| GDF6 | growth differentiation factor 6 | Candidate gene tested in |
| GDF3 | growth differentiation factor 3 | Disease-causing germline mutation(s) in |
| ABCB6 | ATP binding cassette subfamily B member 6 (LAN blood group) | Disease-causing germline mutation(s) in |
| TENM3 | teneurin transmembrane protein 3 | Disease-causing germline mutation(s) in |
| ALDH1A3 | aldehyde dehydrogenase 1 family member A3 | Disease-causing germline mutation(s) in |
| RBP4 | retinol binding protein 4 | Disease-causing germline mutation(s) in |
外部标识与链接
OrphanetOMIM:251505OMIM:300345OMIM:601186MONDO:0000170MONDO:170GARD:3644ICD-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）