You are using an outdated browser. Please upgrade your browser to improve your experience.

autosomal dominant distal renal tubular acidosis

Disease Summary
Associated Targets (1)


Mondo Description Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia.
Uniprot Description An autosomal dominant disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification.
Mondo Term and Equivalent IDs
MONDO:0008368:  autosomal dominant distal renal tubular acidosis