Cushing syndrome due to bilateral macronodular adrenocortical disease
ORPHA:189427DiseaseAutosomal dominant, Not applicableAll ages
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KDM1A | lysine demethylase 1A | Modifying germline mutation in | gene with protein product | 609132 |
| GNAS | GNAS complex locus | Disease-causing somatic mutation(s) in | gene with protein product | 139320 |
| ARMC5 | armadillo repeat containing 5 | Disease-causing germline mutation(s) in | gene with protein product | 615549 |
Фенотипы (HPO)39
Облигатный (100%)1
HP:0008231Macronodular adrenal hyperplasia
Очень частый (80–99%)2
HP:0002920Decreased circulating ACTH level
HP:0500011Moon facies
Частый (30–79%)21
HP:0000712Emotional lability
HP:0000716Depression
HP:0000787Nephrolithiasis
HP:0000822Hypertension
HP:0000858Irregular menstruation
HP:0000939Osteoporosis
HP:0000978Bruising susceptibility
HP:0001007Hirsutism
HP:0001050Plethora
HP:0001065Striae distensae
HP:0001952Glucose intolerance
HP:0003077Hyperlipidemia
HP:0003118Increased circulating cortisol level
HP:0003466Paradoxical increased cortisol secretion on dexamethasone suppression test
HP:0003701Proximal muscle weakness
HP:0007126Proximal amyotrophy
HP:0012030Increased urinary cortisol level
HP:0012743Abdominal obesity
HP:0025383Dorsocervical fat pad
HP:0031077Abnormal response to corticotropin releasing hormone stimulation test
HP:0031845Abnormal libido
Периодический (5–29%)8
HP:0000725Psychotic episodes
HP:0001061Acne
HP:0001397Hepatic steatosis
HP:0001596Alopecia
HP:0002354Memory impairment
HP:0002659Increased susceptibility to fractures
HP:0004324Increased body weight
HP:0100754Mania
Очень редкий (1–4%)7
HP:0000859Hyperaldosteronism
HP:0002858Meningioma
HP:0002893Pituitary adenoma
HP:0005584Renal cell carcinoma
HP:0008200Primary hyperparathyroidism
HP:0100543Cognitive impairment
HP:0100634Neuroendocrine neoplasm
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.08 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)