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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-10-2015
Symbol PHA2C
Location 12p13.33
Name pseudohypoaldosterenism, type 2 C
Other name(s) Gordon hyperkalemia-hypertension syndrome
Corresponding gene WNK1
Main clinical features
  • familial hypertension and hyperkalemia, hyperchloremic acidosis, a normal glomerular filtration rate and low renin levels, responsive to thiazide diuretics
  • Genetic determination autosomal dominant
    Function/system disorder kidney and urinary tract
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/gain of function mostly large intronic deletions with increased expression of the protein