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Familial hyperaldosteronism type I

ORPHA:403DiseaseAutosomal dominantAdolescent, Adult, Childhood

Ассоциированные гены (2)

CYP11B1
cytochrome P450 family 11 subfamily B member 1
Part of a fusion gene in
OMIM: 610613
CYP11B2
cytochrome P450 family 11 subfamily B member 2
Part of a fusion gene in
OMIM: 124080

Фенотипы (15)

Облигатный (100%)2
HP:0000822Hypertension
HP:0011739Dexamethasone-suppresible primary hyperaldosteronism
Очень частый (80–99%)2
HP:0008221Adrenal hyperplasia
HP:0040084Abnormal circulating renin
Периодический (5–29%)11
HP:0000360Tinnitus
HP:0000421Epistaxis
HP:0001324Muscle weakness
HP:0001959Polydipsia
HP:0002018Nausea
HP:0002170Intracranial hemorrhage
HP:0002315Headache
HP:0002900Hypokalemia
HP:0011410Caesarian section
HP:0011746Secretory adrenocortical adenoma
HP:0100602Preeclampsia

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы