Female infertility due to oocyte meiotic arrest
ORPHA:488191DiseaseAutosomal recessiveAdolescent, Adult
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TLE6 | TLE family member 6, subcortical maternal complex member | Disease-causing germline mutation(s) in | gene with protein product | 612399 |
| ZFP36L2 | ZFP36 like 2 zinc finger CCCH-type | Disease-causing germline mutation(s) in | gene with protein product | 612053 |
| WEE2 | WEE2 oocyte meiosis inhibiting kinase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614084 |
| PANX1 | pannexin 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 608420 |
| PATL2 | PAT1 homolog 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614661 |
| TUBB8 | tubulin beta 8 class VIII | Disease-causing germline mutation(s) in | gene with protein product | 616768 |
Фенотипы (HPO)6
Облигатный (100%)2
HP:0008222Female infertility
HP:0031515Abnormal meiosis
Частый (30–79%)1
HP:0031516Oocyte arrest at metaphase I
Периодический (5–29%)1
HP:0020155Abnormal oocyte morphology
Исключён (0%)2
HP:0000147Polycystic ovaries
HP:0008669Abnormal spermatogenesis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)