X-linked adrenal hypoplasia congenita
ORPHA:95702DiseaseX-linked recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)24
Облигатный (100%)1
HP:0003154Increased circulating ACTH level
Очень частый (80–99%)2
HP:0000953Hyperpigmentation of the skin
HP:0008163Decreased circulating cortisol level
Частый (30–79%)18
HP:0040171Decreased serum testosterone concentration
HP:0046504Decreased libido
HP:0100639Erectile dysfunction
HP:0000044Hypogonadotropic hypogonadism
HP:0000798Oligozoospermia
HP:0000823Delayed puberty
HP:0001531Failure to thrive in infancy
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002018Nausea
HP:0002153Hyperkalemia
HP:0002321Vertigo
HP:0002902Hyponatremia
HP:0008186Adrenocortical cytomegaly
HP:0008207Primary adrenal insufficiency
HP:0008734Decreased testicular size
HP:0012378Fatigue
HP:0030344Decreased circulating luteinizing hormone level
Периодический (5–29%)3
HP:0001250Seizure
HP:0001824Weight loss
HP:0002225Sparse pubic hair
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 8 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)