Aromatase deficiency
ORPHA:91DiseaseAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)20
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001510Growth delay
HP:0001513Obesity
HP:0002653Bone pain
HP:0002663Delayed epiphyseal ossification
HP:0002750Delayed skeletal maturation
HP:0002857Genu valgum
HP:0003077Hyperlipidemia
HP:0003251Male infertility
HP:0003782Eunuchoid habitus
HP:0008072Maternal virilization in pregnancy
HP:0008222Female infertility
HP:0008675Enlarged polycystic ovaries
HP:0010458Female pseudohermaphroditism
HP:0000028Cryptorchidism
HP:0000061Ambiguous genitalia, female
HP:0000098Tall stature
HP:0000786Primary amenorrhea
HP:0000815Hypergonadotropic hypogonadism
Частый (30–79%)6
HP:0000855Insulin resistance
HP:0000956Acanthosis nigricans
HP:0001397Hepatic steatosis
HP:0002050Macroorchidism, postpubertal
HP:0002230Generalized hirsutism
HP:0005978Type II diabetes mellitus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 38 | 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)