Gitelman Syndrome (GTLMNS)

Gitelman Syndrome, also known as familial hypokalemia-hypomagnesemia, is related to pseudohypoaldosteronism, type ib1, autosomal recessive and hypokalemia, and has symptoms including muscle cramp, polyuria and seizures. An important gene associated with Gitelman Syndrome is SLC12A3 (Solute Carrier Family 12 Member 3), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. The drugs Mifepristone and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include Kidney and heart, and related phenotypes are hypokalemia and failure to thrive