What is the role of type II pseudohypoaldosteronism (PHAII) (Gordon syndrome) in the development of hyperkalemia (high serum potassium level)?

Updated: Jun 20, 2018
  • Author: Eleanor Lederer, MD, FASN; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

Gordon syndrome, or pseudohypoaldosteronism type II (PHAII), characterized by hyperkalemia and hypertension, is caused by mutations in several genes. The following 5 loci are known to be associated with PHAII:

  • PHA2A has been mapped to chromosome 1q31-q42, but no gene is known at the present time
  • PHA2B is caused by mutations in the WNK4 gene on chromosome 17q21
  • PHA2C is caused by mutations in the WNK1 gene on chromosome 12p13
  • PHA2D is caused by mutations in the KLHL3 gene on chromosome5q31
  • PHA2E is caused by mutations in the CUL3 gene on chromosome 2q36

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