皮肤色素沉着过少
Hypopigmentation of the skin
ORPHA:79376疾病组
相关基因 22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 |
|---|---|---|
| AP3B1 | adaptor related protein complex 3 subunit beta 1 | ORPHA:664500 |
| AP3D1 | adaptor related protein complex 3 subunit delta 1 | ORPHA:664511 |
| DCT | dopachrome tautomerase | ORPHA:597733 |
| HPS1 | HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | ORPHA:231500 |
| HPS3 | HPS3 biogenesis of lysosomal organelles complex 2 subunit 1 | ORPHA:231512 |
| HPS4 | HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 | ORPHA:231500 |
| HPS5 | HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 | ORPHA:231512 |
| HPS6 | HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | ORPHA:231512 |
| KIT | KIT proto-oncogene, receptor tyrosine kinase | ORPHA:2884 |
| LRMDA | leucine rich melanocyte differentiation associated | ORPHA:352745 |
| LYST | lysosomal trafficking regulator | ORPHA:167 |
| MITF | melanocyte inducing transcription factor | ORPHA:42665 |
| MLPH | melanophilin | ORPHA:79478 |
| MYO5A | myosin VA | ORPHA:79476 |
| OCA2 | OCA2 melanosomal transmembrane protein | ORPHA:79432 |
| RAB27A | RAB27A, member RAS oncogene family | ORPHA:79477 |
| RHOA | ras homolog family member A | ORPHA:589608 |
| SLC24A5 | solute carrier family 24 member 5 | ORPHA:370097 |
| SLC45A2 | solute carrier family 45 member 2 | ORPHA:79435 |
| SNAI2 | snail family transcriptional repressor 2 | ORPHA:2884 |
| TYR | tyrosinase | ORPHA:79431 |
| TYRP1 | tyrosinase related protein 1 | ORPHA:79433 |
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）