卵母细胞减数分裂停滞引起的女性不育
Female infertility due to oocyte meiotic arrest
ORPHA:488191疾病
定义 英文原文（暂无中文）
A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 青少年期、成年期
相关基因 15
| 基因 | 名称 | 关联类型 |
|---|---|---|
| KPNA7 | karyopherin subunit alpha 7 | Disease-causing germline mutation(s) in |
| NLRP2 | NLR family pyrin domain containing 2 | Disease-causing germline mutation(s) in |
| NLRP5 | NLR family pyrin domain containing 5 | Disease-causing germline mutation(s) in |
| MOS | MOS proto-oncogene, serine/threonine kinase | Disease-causing germline mutation(s) in |
| CHEK1 | checkpoint kinase 1 | Disease-causing germline mutation(s) in |
| PADI6 | peptidyl arginine deiminase 6 | Disease-causing germline mutation(s) in |
| FBXO43 | F-box protein 43 | Disease-causing germline mutation(s) in |
| PATL2 | PAT1 homolog 2 | Disease-causing germline mutation(s) (loss of function) in |
| TUBB8 | tubulin beta 8 class VIII | Disease-causing germline mutation(s) in |
| WEE2 | WEE2 oocyte meiosis inhibiting kinase | Disease-causing germline mutation(s) (loss of function) in |
| PANX1 | pannexin 1 | Disease-causing germline mutation(s) (gain of function) in |
| ZFP36L2 | ZFP36 like 2 zinc finger CCCH-type | Disease-causing germline mutation(s) in |
| TLE6 | TLE family member 6, subcortical maternal complex member | Disease-causing germline mutation(s) in |
| CDC20 | cell division cycle 20 | Disease-causing germline mutation(s) in |
| NLRP7 | NLR family pyrin domain containing 7 | Disease-causing germline mutation(s) in |
临床表型 6
必现 100%2
- 减数分裂异常 HP:0031515
- 女性不孕症 HP:0008222
常见 79–30%1
- 卵母细胞第一次减数分裂中期停滞 HP:0031516
偶见 29–5%1
- 卵细胞形态异常 HP:0020155
排除 0%2
- 生精异常 HP:0008669
- 多囊卵巢 HP:0000147
外部标识与链接
OrphanetOMIM:616780OMIM:616814OMIM:617234MONDO:0044626ICD-10 N97.8ICD-11 GA31.0YClinicalTrials.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）