Glucocorticoid-remediable aldosteronism (GRA); Familial hyperaldosteronism type I
Supergrp
Primary aldosteronism [DS:H01603] High blood pressure [DS:H01633]
Description
Glucocorticoid-remediable aldosteronism (GRA), also known as familial hypoaldosteronism type I, is an autosomal dominant disease that causes hypertension, hypokalemia, decreased plasma renin activity and increased aldosterone levels. GRA is caused by a chimeric gene that links the 11 [beta]-hydroxylase promoter sequence to the aldosterone synthase gene's coding region. As a result, aldosterone is ectopically synthesized in the cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate the mineralocorticoid receptor (MR) and upregulate Na reabsorption and K secretion. Most individuals have severe hypertension since infancy but milder phenotypes have been described.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the adrenal glands or adrenal hormone system
5A72 Hyperaldosteronism
H00602 Glucocorticoid-remediable aldosteronism (GRA)
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06310 CRH-ACTH-cortisol signaling
H00602 Glucocorticoid-remediable aldosteronism (GRA)
