角膜营养不良
Corneal dystrophy
ORPHA:34533疾病组
定义 英文原文（暂无中文）
A heterogeneous group of bilateral, genetically determined, non-inflammatory eye diseases that are usually restricted to the cornea. The designation is imprecise but remains in use because of its clinical value.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、线粒体遗传、不适用、X 连锁隐性
- 发病年龄
- 各年龄段
- 患病率
- >1 / 1000（United States）
相关基因 21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 |
|---|---|---|
| AGBL1 | AGBL carboxypeptidase 1 | ORPHA:98974 |
| CHST6 | carbohydrate sulfotransferase 6 | ORPHA:98969 |
| COL17A1 | collagen type XVII alpha 1 chain | ORPHA:293381 |
| COL8A2 | collagen type VIII alpha 2 chain | ORPHA:98974 |
| DCN | decorin | ORPHA:101068 |
| GRHL2 | grainyhead like transcription factor 2 | ORPHA:98973 |
| GSN | gelsolin | ORPHA:85448 |
| KRT12 | keratin 12 | ORPHA:98954 |
| KRT3 | keratin 3 | ORPHA:98954 |
| NLRP1 | NLR family pyrin domain containing 1 | ORPHA:352662 |
| OVOL2 | ovo like zinc finger 2 | ORPHA:98973 |
| PAX6 | paired box 6 | ORPHA:2334 |
| PIKFYVE | phosphoinositide kinase, FYVE-type zinc finger containing | ORPHA:98970 |
| SLC4A11 | solute carrier family 4 member 11 | ORPHA:98974 |
| SPARCL1 | SPARC like 1 | ORPHA:101068 |
| TACSTD2 | tumor associated calcium signal transducer 2 | ORPHA:98957 |
| TCF4 | transcription factor 4 | ORPHA:98974 |
| TGFBI | transforming growth factor beta induced | ORPHA:98956 |
| UBIAD1 | UbiA prenyltransferase domain containing 1 | ORPHA:98967 |
| VSX1 | visual system homeobox 1 | ORPHA:98973 |
| ZEB1 | zinc finger E-box binding homeobox 1 | ORPHA:98974 |
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）