Disease_Mapped_To_Gene Pediatric Nephrology Terminology Cellosaurus Disease Terminology SLC12A3 Gene Syndrome Rare Non-Neoplastic Disorder Gitelman Syndrome Cellosaurus Disease or Syndrome C0268450 NICHD Gitelman Syndrome An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia. C84730 An inherited disorder caused by mutations in the SLC12A3 gene, characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia. Gitelman Syndrome NICHD Terminology