KEGG   DISEASE: Apparent mineralocorticoid excess syndrome
Entry
H00259                      Disease                                
Name
Apparent mineralocorticoid excess syndrome;
11-beta-ketoreductase deficiency
  Supergrp
High blood pressure [DS:H01633]
Description
Apparent mineralocorticoid excess (AME) syndrome is characterized by hypertension, low plasma renin and aldosterone and hypokalaemia caused by deficiency of 11b-hydroxysteroid dehydrogenase type 2 which is a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone.
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
     H00259  Apparent mineralocorticoid excess syndrome
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06019  Steroid hormone biosynthesis
   H00259  Apparent mineralocorticoid excess syndrome
Pathway
hsa00140  Steroid hormone biosynthesis
Network
nt06019 Steroid hormone biosynthesis
Gene
HSD11B2 [HSA:3291] [KO:K00071]
Other DBs
ICD-11: 5A72.1
MeSH: D043204
OMIM: 218030
Reference
PMID:16980198
  Authors
Hammer F, Stewart PM
  Title
Cortisol metabolism in hypertension.
  Journal
Best Pract Res Clin Endocrinol Metab 20:337-53 (2006)
DOI:10.1016/j.beem.2006.07.001
Reference
PMID:15761540
  Authors
Palermo M, Quinkler M, Stewart PM
  Title
Apparent mineralocorticoid excess syndrome: an overview.
  Journal
Arq Bras Endocrinol Metabol 48:687-96 (2004)
DOI:10.1590/S0004-27302004000500015

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   OMIM (1)   
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