Hyperandrogenism due to cortisone reductase deficiency
ORPHA:168588Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| H6PD | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 138090 |
| HSD11B1 | hydroxysteroid 11-beta dehydrogenase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600713 |
Фенотипы (HPO)10
Частый (30–79%)6
HP:0000822Hypertension
HP:0000858Irregular menstruation
HP:0008258Congenital adrenal hyperplasia
HP:0025436Elevated serum 11-deoxycortisol
HP:0030348Increased circulating androgen concentration
HP:0031186Abnormal circulating deoxycorticosterone level
Периодический (5–29%)4
HP:0000826Precocious puberty
HP:0002900Hypokalemia
HP:0003351Decreased circulating renin concentration
HP:0012412Premature adrenarche
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)