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pseudohypoaldosteronism type 2C

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene.
Uniprot Description An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, mild hyperchloremic metabolic acidosis in some cases, and correction of physiologic abnormalities by thiazide diuretics.
Mondo Term and Equivalent IDs
MONDO:0013778:  pseudohypoaldosteronism type 2C
MESH:C564162: 
Orphanet:88940: 
UMLS:C1840391: