Estrogen resistance syndrome
ORPHA:785DiseaseAutosomal recessiveAdolescent
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)14
HP:0000013Hypoplasia of the uterus
HP:0000098Tall stature
HP:0000786Primary amenorrhea
HP:0000837Increased circulating gonadotropin level
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001548Overgrowth
HP:0002663Delayed epiphyseal ossification
HP:0003117Abnormality of circulating hormone level
HP:0003187Breast hypoplasia
HP:0003799Marked delay in bone age
HP:0008187Absence of secondary sex characteristics
HP:0008197Absence of pubertal development
HP:0008675Enlarged polycystic ovaries
Частый (30–79%)7
HP:0000842Hyperinsulinemia
HP:0000956Acanthosis nigricans
HP:0001061Acne
HP:0001677Coronaryartery atherosclerosis
HP:0001952Glucose intolerance
HP:0002574Episodic abdominal pain
HP:0010679Elevated tissue non-specific alkaline phosphatase
Исключён (0%)3
HP:0000834Abnormality of the adrenal glands
HP:0030087Abnormal testosterone level
HP:0100133Abnormality of the pubic hair
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)