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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-09-2011
Symbol FHA3
Location 11q24.3
Name hyperaldosteronism, familial, type III
Corresponding gene KCNJ5
Main clinical features
  • characterized by hypertension secondary to massive adrenal mineralocorticoid production
  • childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol
  • histology revealed massive hyperplasia and cellular hypertrophy of a single cortical compartment that had features of adrenal fasciculata or a transitional zone, with an atrophic glomerulosa
  • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease