部分Y染色体缺失
Chromosome Y microdeletion syndrome
ORPHA:1646疾病
定义 英文原文（暂无中文）
A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.
别名
Y染色体缺失所致男性不育症
基本事实
- 遗传方式
- 不适用、Y 连锁
- 发病年龄
- 成年期
- 患病率
- 1-5 / 10 000
相关基因 9
| 基因 | 名称 | 关联类型 |
|---|---|---|
| USP9Y | ubiquitin specific peptidase 9 Y-linked | Role in the phenotype of |
| DAZ1 | deleted in azoospermia 1 | Candidate gene tested in |
| DAZ2 | deleted in azoospermia 2 | Candidate gene tested in |
| DAZ3 | deleted in azoospermia 3 | Candidate gene tested in |
| DAZ4 | deleted in azoospermia 4 | Candidate gene tested in |
| DDX3Y | DEAD-box helicase 3 Y-linked | Candidate gene tested in |
| RBMY1A1 | RNA binding motif protein Y-linked family 1 member A1 | Candidate gene tested in |
| TSPY1 | testis specific protein Y-linked 1 | Modifying germline mutation in |
| AZF1 | azoospermia factor 1 | Role in the phenotype of |
临床表型 6
极常见 99–80%4
- 生精异常 HP:0008669
- 睾丸体积过小 HP:0008734
- 男性不育 HP:0003251
- 非梗阻性无精症 HP:0011961
常见 79–30%1
- 少精症 HP:0000798
偶见 29–5%1
- 隐睾 HP:0000028
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）