Generalized pseudohypoaldosteronism type 1
ORPHA:171876Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SCNN1A | sodium channel epithelial 1 subunit alpha | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600228 |
| SCNN1B | sodium channel epithelial 1 subunit beta | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600760 |
| SCNN1G | sodium channel epithelial 1 subunit gamma | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600761 |
Фенотипы (HPO)22
Очень частый (80–99%)6
HP:0000848Increased circulating renin level
HP:0001942Metabolic acidosis
HP:0002153Hyperkalemia
HP:0002902Hyponatremia
HP:0011740Glucocortocoid-insensitive primary hyperaldosteronism
HP:0040085Abnormal circulating aldosterone
Частый (30–79%)5
HP:0001531Failure to thrive in infancy
HP:0001944Dehydration
HP:0002013Vomiting
HP:0031274Hypovolemic shock
HP:0200117Recurrent upper and lower respiratory tract infections
Периодический (5–29%)11
HP:0001047Atopic dermatitis
HP:0001081Cholelithiasis
HP:0001824Weight loss
HP:0002754Osteomyelitis
HP:0003508Proportionate short stature
HP:0008872Feeding difficulties in infancy
HP:0011110Recurrent tonsillitis
HP:0011675Arrhythmia
HP:0012735Cough
HP:0030828Wheezing
HP:0200039Pustule
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 | United Kingdom | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)