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Pseudohypoaldosteronism type 2B(PHA2B)

MedGen UID:
374457
Concept ID:
C1840390
Disease or Syndrome
Synonym: PHA2B
 
Gene (location): WNK4 (17q21.2)
 
Monarch Initiative: MONDO:0013777
OMIM®: 614491
Orphanet: ORPHA88939

Disease characteristics

Excerpted from the GeneReview: Pseudohypoaldosteronism Type II
Pseudohypoaldosteronism type II (PHAII) is characterized by hyperkalemia despite normal glomerular filtration rate (GFR) and frequently by hypertension. Other associated findings in both children and adults include hyperchloremia, metabolic acidosis, and suppressed plasma renin levels. Aldosterone levels are variable, but are relatively low given the degree of hyperkalemia (elevated serum potassium is a potent stimulus for aldosterone secretion). Hypercalciuria is well described. [from GeneReviews]
Authors:
David H Ellison   view full author information

Clinical features

From HPO
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.
Hyperchloremia
MedGen UID:
39325
Concept ID:
C0085679
Disease or Syndrome
An abnormally increased chloride concentration in the blood.
Hyperchloremic metabolic acidosis
MedGen UID:
369924
Concept ID:
C1969073
Disease or Syndrome
A form of metabolic acidosis with increased serum chloride levels.
Pseudohypoaldosteronism
MedGen UID:
18721
Concept ID:
C0033805
Disease or Syndrome
A state of renal tubular unresponsiveness or resistance to the action of aldosterone.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Pseudohypoaldosteronism type 2B in Orphanet.

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