46,XY性发育异常
46,XY difference of sex development
ORPHA:98085疾病组
别名
46,XY DSD
基本事实
- 患病率
- <1 / 1 000 000（Denmark）
相关基因 18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 |
|---|---|---|
| AR | androgen receptor | ORPHA:90797 |
| ATRX | ATRX chromatin remodeler | ORPHA:847 |
| CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | ORPHA:168558 |
| DHH | desert hedgehog signaling molecule | ORPHA:168563 |
| DHX37 | DEAH-box helicase 37 | ORPHA:251510 |
| GATA4 | GATA binding protein 4 | ORPHA:251510 |
| HHAT | hedgehog acyltransferase | ORPHA:1422 |
| HSD17B3 | hydroxysteroid 17-beta dehydrogenase 3 | ORPHA:752 |
| MAP3K1 | mitogen-activated protein kinase kinase kinase 1 | ORPHA:251510 |
| NR5A1 | nuclear receptor subfamily 5 group A member 1 | ORPHA:251510 |
| PPP2R3C | protein phosphatase 2 regulatory subunit B''gamma | ORPHA:1770 |
| SOX9 | SRY-box transcription factor 9 | ORPHA:251510 |
| SRD5A2 | steroid 5 alpha-reductase 2 | ORPHA:753 |
| SRY | sex determining region Y | ORPHA:251510 |
| TSPYL1 | TSPY like 1 | ORPHA:168593 |
| WT1 | WT1 transcription factor | ORPHA:347 |
| WWOX | WW domain containing oxidoreductase | ORPHA:251510 |
| ZFPM2 | zinc finger protein, FOG family member 2 | ORPHA:251510 |
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）