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pseudohypoaldosteronism type 2B

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene.
Uniprot Description An autosomal dominant disorder characterized by hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics.
Mondo Term and Equivalent IDs
MONDO:0013777:  pseudohypoaldosteronism type 2B
MESH:C564161: 
Orphanet:88939: 
UMLS:C1840390: