KEGG   VARIANT: 3291v1
Entry
3291v1                      Variant                                
Name
HSD11B2 deficiency
Type
Loss of function
Gene
HSD11B2  hydroxysteroid 11-beta dehydrogenase 2 [KO:K00071]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 614232
Network
nt06019  Steroid hormone biosynthesis
Disease
H00259  Apparent mineralocorticoid excess syndrome
Reference
PMID:17314322
  Authors
Atanasov AG, Ignatova ID, Nashev LG, Dick B, Ferrari P, Frey FJ, Odermatt A
  Title
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess.
  Journal
J Am Soc Nephrol 18:1262-70 (2007)
DOI:10.1681/ASN.2006111235
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