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pseudohypoaldosteronism type 2D

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 KLHL3 gene.
Uniprot Description A disorder characterized by severe hypertension, hyperkalemia, hyperchloremia, hyperchloremic metabolic acidosis, and correction of physiologic abnormalities by thiazide diuretics. PHA2D inheritance is autosomal dominant or recessive.
Mondo Term and Equivalent IDs
MONDO:0013781:  pseudohypoaldosteronism type 2D
Orphanet:300525: 
UMLS:C3469605: