Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
ORPHA:90795DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)11
HP:0000062Ambiguous genitalia
HP:0000822Hypertension
HP:0001507Growth abnormality
HP:0002900Hypokalemia
HP:0003351Decreased circulating renin concentration
HP:0005616Accelerated skeletal maturation
HP:0008163Decreased circulating cortisol level
HP:0025380Increased circulating androstenedione concentration
HP:0030348Increased circulating androgen concentration
HP:0031213Elevated circulating 17-hydroxyprogesterone
HP:0032330Increased urinary 11-deoxycorticosterone level
Частый (30–79%)13
HP:0000040Long penis
HP:0000061Ambiguous genitalia, female
HP:0000826Precocious puberty
HP:0000858Irregular menstruation
HP:0000953Hyperpigmentation of the skin
HP:0001007Hirsutism
HP:0001061Acne
HP:0003154Increased circulating ACTH level
HP:0004322Short stature
HP:0008236Isosexual precocious puberty
HP:0008665Clitoral hypertrophy
HP:0012411Premature pubarche
HP:0012412Premature adrenarche
Периодический (5–29%)6
HP:0000127Renal salt wasting
HP:0000147Polycystic ovaries
HP:0000771Gynecomastia
HP:0001596Alopecia
HP:0025451Testicular adrenal rest tumor
HP:0030088Increased serum testosterone level
Очень редкий (1–4%)2
HP:0002170Intracranial hemorrhage
HP:0010314Premature thelarche
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.47 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)