| H00602 | |
| H number | H00602 |
| Name | Glucocorticoid-remediable aldosteronism (GRA); Familial hyperaldosteronism type I |
| 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 |
| Network | nt06310(H00602) CRH-ACTH-cortisol signaling |
| Gene | CYP11B1 [HSA:1584] [KO:K00497] CYP11B2 [HSA:1585] [KO:K07433] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A72.0 ICD-10: E26.0 I15.2 MeSH: C563177 OMIM: 103900 |
| Reference | PMID:21404100 AUTHORS Simonetti GD, Mohaupt MG, Bianchetti MG TITLE Monogenic forms of hypertension. JOURNAL Eur J Pediatr 171:1433-9 (2012) DOI:10.1007/s00431-011-1440-7 PMID:17496764 AUTHORS Williams SS TITLE Advances in genetic hypertension. JOURNAL Curr Opin Pediatr 19:192-8 (2007) DOI:10.1097/MOP.0b013e32801e217c PMID:17262198 AUTHORS Rosskopf D, Schurks M, Rimmbach C, Schafers R TITLE Genetics of arterial hypertension and hypotension. JOURNAL Naunyn Schmiedebergs Arch Pharmacol 374:429-69 (2007) DOI:10.1007/s00210-007-0133-2 PMID:15761539 AUTHORS McMahon GT, Dluhy RG TITLE Glucocorticoid-remediable aldosteronism. JOURNAL Arq Bras Endocrinol Metabol 48:682-6 (2004) DOI:10.1590/S0004-27302004000500014 PMID:11004715 AUTHORS Torpy DJ, Stratakis CA, Chrousos GP TITLE Familial hyperaldosteronism. JOURNAL Braz J Med Biol Res 33:1149-55 (2000) DOI:10.1590/S0100-879X2000001000004 |