46,XX testicular difference of sex development
ORPHA:393Malformation syndromeAutosomal dominantAdolescent, Antenatal, Neonatal
Ассоциированные гены5
| 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 |
| SOX3 | SRY-box transcription factor 3 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 313430 |
| NR0B1 | nuclear receptor subfamily 0 group B member 1 | Role in the phenotype of | gene with protein product | 300473 |
| 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)4
Очень частый (80–99%)4
HP:0000026Male hypogonadism
HP:0000062Ambiguous genitalia
HP:0000147Polycystic ovaries
HP:0008734Decreased testicular size
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.5 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)