Congenital lipoid adrenal hyperplasia due to STAR deficency
ORPHA:90790DiseaseAutosomal recessiveChildhood, Infancy, Neonatal
Фенотипы (HPO)25
Очень частый (80–99%)3
HP:0000953Hyperpigmentation of the skin
HP:0003154Increased circulating ACTH level
HP:0008730Female external genitalia in individual with 46,XY karyotype
Частый (30–79%)9
HP:0000055Abnormality of female external genitalia
HP:0000841Hyperactive renin-angiotensin system
HP:0001945Fever
HP:0002013Vomiting
HP:0002153Hyperkalemia
HP:0002902Hyponatremia
HP:0008163Decreased circulating cortisol level
HP:0008221Adrenal hyperplasia
HP:0030347Abnormal circulating androgen level
Периодический (5–29%)10
HP:0000037Male pseudohermaphroditism
HP:0000053Macroorchidism
HP:0000707Abnormality of the nervous system
HP:0000952Jaundice
HP:0001250Seizure
HP:0001298Encephalopathy
HP:0001508Failure to thrive
HP:0001943Hypoglycemia
HP:0002090Pneumonia
HP:0010885Avascular necrosis
Очень редкий (1–4%)3
HP:0003002Breast carcinoma
HP:0012114Endometrial carcinoma
HP:0040187Neonatal sepsis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)