Uniprot Description An autosomal recessive 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:0011268: renal tubular acidosis, distal, 3, with or without sensorineural hearing loss