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GENATLAS PHENOTYPE
last update : 1/09/2006
Symbol PHA1A2
Location 4q31
Name pseudohypoaldosteronism, type 1
Corresponding gene NR3C2
Main clinical features
  • characterized by neonatal renal salt wasting with dehydration-hypotension, hyperkalemia and metabolic acidosis, despite elevated aldosterone levels, improving with age and asymptomatic without treatment by ten years of age
    • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name mineralocorticoid receptor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein mutation c3055C>T (R947X) in exon 9 of the MR gene leading to a premature stop codon
    Remark(s) Codon 947 of the mineralocorticoid receptor is the first mutational hot spot