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pseudohypoaldosteronism type 2E

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 CUL3 gene.
Uniprot Description An autosomal dominant disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics.
Mondo Term and Equivalent IDs
MONDO:0013782:  pseudohypoaldosteronism type 2E
Orphanet:300530: 
UMLS:C3469606: