精子活力障碍所致非综合征性男性不育
Non-syndromic male infertility due to sperm motility disorder
ORPHA:276234疾病
定义
精子运动障碍所致的非综合征性男性不育是一种罕见的遗传性非综合征性男性不育疾病，其特征是精子纤毛/鞭毛结构缺陷，导致新鲜射精液缺乏运动能力或向前运动的能力降低。通常会出现精液量减少、少精子症和结构异常的精子数量增加。
别名
弱精症所致非综合征性男性不育
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 成年期
相关基因 26
| 基因 | 名称 | 关联类型 |
|---|---|---|
| AK9 | adenylate kinase 9 | Disease-causing germline mutation(s) in |
| SSX1 | SSX family member 1 | Disease-causing germline mutation(s) in |
| CATSPER1 | cation channel sperm associated 1 | Disease-causing germline mutation(s) in |
| DRC1 | dynein regulatory complex subunit 1 | Disease-causing germline mutation(s) (loss of function) in |
| SLC26A8 | solute carrier family 26 member 8 | Disease-causing germline mutation(s) in |
| SEPTIN12 | septin 12 | Disease-causing germline mutation(s) in |
| DNAH1 | dynein axonemal heavy chain 1 | Disease-causing germline mutation(s) in |
| CFAP251 | cilia and flagella associated protein 251 | Disease-causing germline mutation(s) in |
| CFAP43 | cilia and flagella associated protein 43 | Disease-causing germline mutation(s) (loss of function) in |
| CFAP44 | cilia and flagella associated protein 44 | Disease-causing germline mutation(s) (loss of function) in |
| SPAG17 | sperm associated antigen 17 | Disease-causing germline mutation(s) in |
| AK7 | adenylate kinase 7 | Disease-causing germline mutation(s) in |
| CFAP69 | cilia and flagella associated protein 69 | Disease-causing germline mutation(s) in |
| FSIP2 | fibrous sheath interacting protein 2 | Disease-causing germline mutation(s) in |
| ARMC2 | armadillo repeat containing 2 | Disease-causing germline mutation(s) in |
| TTC21A | tetratricopeptide repeat domain 21A | Disease-causing germline mutation(s) in |
| SPEF2 | sperm flagellar and cilia associated 2 | Disease-causing germline mutation(s) (loss of function) in |
| DNAH17 | dynein axonemal heavy chain 17 | Disease-causing germline mutation(s) in |
| CFAP65 | cilia and flagella associated protein 65 | Disease-causing germline mutation(s) in |
| CFAP70 | cilia and flagella associated protein 70 | Disease-causing germline mutation(s) in |
| TTC29 | tetratricopeptide repeat domain 29 | Disease-causing germline mutation(s) in |
| AKAP4 | A-kinase anchoring protein 4 | Disease-causing germline mutation(s) (loss of function) in |
| ACTL9 | actin like 9 | Disease-causing germline mutation(s) in |
| USP26 | ubiquitin specific peptidase 26 | Disease-causing germline mutation(s) in |
| TEKT3 | tektin 3 | Disease-causing germline mutation(s) in |
| DNALI1 | dynein axonemal light intermediate chain 1 | Disease-causing germline mutation(s) in |
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）