KEGG   DISEASE: Glucocorticoid-remediable aldosteronism (GRA)
Entry
H00602                      Disease                                

Name
Glucocorticoid-remediable aldosteronism (GRA);
Familial hyperaldosteronism type I
  Supergrp
Primary aldosteronism [DS:H01603]
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 disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hypertensive diseases
   H00602  Glucocorticoid-remediable aldosteronism (GRA)
 Endocrine and metabolic diseases
  Adrenal gland diseases
   H00602  Glucocorticoid-remediable aldosteronism (GRA)
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)
Related
pathway
hsa00140  Steroid hormone biosynthesis
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
Network
nt06310  CRH-ACTH-cortisol signaling
  Element
N00298  CYP11B1-CYP11B2 fusion to ACTH-cortisol signaling pathway
Gene
CYP11B1 [HSA:1584] [KO:K00497]
CYP11B2 [HSA:1585] [KO:K07433]
Other DBs
ICD-11: 5A72.0
ICD-10: E26.0 I15.2
MeSH: C563177
OMIM: 103900
Reference
  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
Reference
  Authors
Williams SS
  Title
Advances in genetic hypertension.
  Journal
Curr Opin Pediatr 19:192-8 (2007)
DOI:10.1097/MOP.0b013e32801e217c
Reference
  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
Reference
  Authors
McMahon GT, Dluhy RG
  Title
Glucocorticoid-remediable aldosteronism.
  Journal
Arq Bras Endocrinol Metabol 48:682-6 (2004)
DOI:10.1590/S0004-27302004000500014
Reference
  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
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