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GENATLAS PHENOTYPE
last update : 17-03-2009
Symbol HSD11B2D
Location 16q22.1
Name cortisol 11-beta-ketoreductase deficiency
Other name(s) apparent mineralocorticoid excess 2
Corresponding gene HSD11B2
Other symbol(s) AME2
Main clinical features
  • hypertension, hyporeninemia, hypoaldosteronemia, hypokalemic metabolic alkalosis and apparent mineralocorticoid excess
  • including a severe form associated with failure to thrive, poor growth, nephrocalcinosis and sudden fatality (type I) and a mild form characterized by low-renin hypertension (type II)
    • Genetic determination autosomal recessive
    Related entries including apparent mineralocorticoid excess 2 (OMIM 207765)
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name hydroxysteroid dehydrogenase 11-beta 2 (HSD11B2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s)
  • mutations in HSD11B2 result in cortisol-induced activation of mineralocorticoid receptors and cause hypertension with hypokalemia, metabolic alkalosis, and suppressed circulating renin and aldosterone concentrations (Atanasov 2007)
  • impaired 11beta-HSD2 protein stability rather than reduced gene expression or loss of catalytic activity seems to be responsible for the development of hypertension in some individuals (Atanasov 2007)