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GENATLAS PHENOTYPE
last update : 25/08/2006
Symbol NR3C2
Location 4q31
Name hypertension, early onset, with severe exacerbation in pregnancy
Corresponding gene NR3C2
Main clinical features
  • with supressed plasma renin activity, low serum aldosterone . susceptibility risk factor for autosomal dominant, eclampsia
    • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Gene product
    Name mineralocorticoid receptor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     missense mutation (S810L), in the ligand-binding domain, leading to constitutive activity and altering receptor specificity with progesterone and other steroids lacking 21-hydroxyl groups, converting receptor antagonists (such as progesterone) to agonists