KEGG   NETWORK: N00773
Entry
N00773                      Network                                

Name
HSD11B2 deficiency in steroid hormone biosynthesis
Definition
Progesterone -- CYP17A1 >> CYP21A2 >> CYP11B1/2 -> Cortisol -- HSD11B2* // Cortisone
  Expanded
C00410 -- 1586 >> 1589 >> (1584,1585) -> C00735 -- 3291v1 // C00762
Class
nt06019 Steroid hormone biosynthesis
Type
Variant
Disease
H00259  Apparent mineralocorticoid excess syndrome
Gene
1586  CYP17A1; cytochrome P450 family 17 subfamily A member 1
1589  CYP21A2; cytochrome P450 family 21 subfamily A member 2
1584  CYP11B1; cytochrome P450 family 11 subfamily B member 1
1585  CYP11B2; cytochrome P450 family 11 subfamily B member 2
3291  HSD11B2; hydroxysteroid 11-beta dehydrogenase 2
Variant
3291v1 (HSD11B2*)  HSD11B2 deficiency
Metabolite
C00410  Progesterone
C00735  Cortisol
C00762  Cortisone
Reference
  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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