Glucocorticoid-remediable aldosteronism (GRA);
Familial hyperaldosteronism type I

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.

Endocrine disease

nt06310 CRH-ACTH-cortisol signaling

CYP11B1 [HSA:1584] [KO:K00497]
CYP11B2 [HSA:1585] [KO:K07433]

PMID:21404100

PMID:17496764

PMID:17262198

PMID:15761539

PMID:11004715