46,XX ovotesticular difference of sex development
ORPHA:2138Malformation syndromeAutosomal dominant, Autosomal recessiveAdolescent, Antenatal, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SOX9 | SRY-box transcription factor 9 | Disease-causing germline mutation(s) in | gene with protein product | 608160 |
| SRY | sex determining region Y | Disease-causing germline mutation(s) in | gene with protein product | 480000 |
| NR5A1 | nuclear receptor subfamily 5 group A member 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 184757 |
Фенотипы (HPO)14
Очень частый (80–99%)14
HP:0000008Abnormal morphology of female internal genitalia
HP:0000022Abnormality of male internal genitalia
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000047Hypospadias
HP:0000048Bifid scrotum
HP:0000062Ambiguous genitalia
HP:0000130Abnormality of the uterus
HP:0000144Decreased fertility
HP:0000147Polycystic ovaries
HP:0008736Hypoplasia of penis
HP:0010459True hermaphroditism
HP:0012856Abnormal scrotal rugation
HP:0100779Urogenital sinus anomaly
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 500 | Worldwide | Case(s) |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)