皮肤色素沉着过多
Hyperpigmentation of the skin
ORPHA:79375疾病组
相关基因 17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 |
|---|---|---|
| ABCB6 | ATP binding cassette subfamily B member 6 (LAN blood group) | ORPHA:241 |
| ADAM10 | ADAM metallopeptidase domain 10 | ORPHA:178307 |
| ADAR | adenosine deaminase RNA specific | ORPHA:41 |
| GNA11 | G protein subunit alpha 11 | ORPHA:79483 |
| GNAQ | G protein subunit alpha q | ORPHA:79483 |
| GRHL2 | grainyhead like transcription factor 2 | ORPHA:423454 |
| KITLG | KIT ligand | ORPHA:79146 |
| KRT14 | keratin 14 | ORPHA:86920 |
| KRT5 | keratin 5 | ORPHA:79145 |
| POFUT1 | protein O-fucosyltransferase 1 | ORPHA:79145 |
| POGLUT1 | protein O-glucosyltransferase 1 | ORPHA:79145 |
| PSENEN | presenilin enhancer, gamma-secretase subunit | ORPHA:79145 |
| PUS3 | pseudouridine synthase 3 | ORPHA:488627 |
| SASH1 | SAM and SH3 domain containing 1 | ORPHA:231040 |
| SLC29A3 | solute carrier family 29 member 3 | ORPHA:168569 |
| SMARCB1 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | ORPHA:93921 |
| SPRED1 | sprouty related EVH1 domain containing 1 | ORPHA:137605 |
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）