Familial glucocorticoid deficiency
ORPHA:361DiseaseAutosomal recessiveChildhood, Infancy
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| STAR | steroidogenic acute regulatory protein | Candidate gene tested in | gene with protein product | 600617 |
| MC2R | melanocortin 2 receptor | Disease-causing germline mutation(s) in | gene with protein product | 607397 |
| MRAP | melanocortin 2 receptor accessory protein | Disease-causing germline mutation(s) in | gene with protein product | 609196 |
| TXNRD2 | thioredoxin reductase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606448 |
| NNT | nicotinamide nucleotide transhydrogenase | Disease-causing germline mutation(s) in | gene with protein product | 607878 |
Фенотипы (HPO)36
Облигатный (100%)2
HP:0000846Adrenal insufficiency
HP:0008163Decreased circulating cortisol level
Очень частый (80–99%)7
HP:0001508Failure to thrive
HP:0002615Hypotension
HP:0007440Generalized hyperpigmentation
HP:0011043Abnormality of circulating adrenocorticotropin level
HP:0012734Ketotic hypoglycemia
HP:0031076Impaired cortisol response to insulin stimulation test
HP:0031214Decreased circulating dehydroepiandrosterone level
Частый (30–79%)13
HP:0000127Renal salt wasting
HP:0001824Weight loss
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002019Constipation
HP:0002039Anorexia
HP:0002153Hyperkalemia
HP:0002173Hypoglycemic seizures
HP:0002574Episodic abdominal pain
HP:0002719Recurrent infections
HP:0002902Hyponatremia
HP:0012432Chronic fatigue
HP:0012605Hypernatriuria
Периодический (5–29%)5
HP:0000826Precocious puberty
HP:0004319Decreased circulating aldosterone level
HP:0025451Testicular adrenal rest tumor
HP:0000028Cryptorchidism
HP:0000098Tall stature
Очень редкий (1–4%)8
HP:0000010Recurrent urinary tract infections
HP:0000027Azoospermia
HP:0000851Congenital hypothyroidism
HP:0001249Intellectual disability
HP:0001325Hypoglycemic coma
HP:0001639Hypertrophic cardiomyopathy
HP:0002445Tetraplegia
HP:0100618Leydig cell neoplasia
Исключён (0%)1
HP:0002960Autoimmunity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.4953 | Ireland | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)