46，XY完全性腺发育不全
46,XY complete gonadal dysgenesis
ORPHA:242疾病
定义 英文原文（暂无中文）
A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.
别名
46,XY单纯性性腺发育不全
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁隐性、Y 连锁
- 发病年龄
- 青少年期、成年期
相关基因 10
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SOX9 | SRY-box transcription factor 9 | Disease-causing germline mutation(s) in |
| SRY | sex determining region Y | Disease-causing germline mutation(s) (loss of function) in |
| WT1 | WT1 transcription factor | Candidate gene tested in |
| DHH | desert hedgehog signaling molecule | Disease-causing germline mutation(s) in |
| NR0B1 | nuclear receptor subfamily 0 group B member 1 | Disease-causing germline mutation(s) in |
| NR5A1 | nuclear receptor subfamily 5 group A member 1 | Disease-causing germline mutation(s) in |
| DMRT1 | doublesex and mab-3 related transcription factor 1 | Role in the phenotype of |
| CBX2 | chromobox 2 | Disease-causing germline mutation(s) (loss of function) in |
| MAP3K1 | mitogen-activated protein kinase kinase kinase 1 | Disease-causing germline mutation(s) in |
| DHX37 | DEAH-box helicase 37 | Disease-causing germline mutation(s) in |
临床表型 4
极常见 99–80%4
- 低促性腺激素性性腺功能减退症 HP:0000044
- 男性假两性畸形 HP:0000037
- 多囊卵巢 HP:0000147
- 睾丸发育不全 HP:0008715
外部标识与链接
OrphanetOMIM:154230OMIM:233420OMIM:300018MONDO:0010765GARD:5068ICD-10 Q99.1ICD-11 LD2A.1ClinicalTrials.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）