Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
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
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   abnormal protein/gain of function mostly large intronic deletions with increased expression of the protein
    Remark(s)