Disease

Gitelman Syndrome

About the Disease
Gitelman Syndrome, also known as familial hypokalemia-hypomagnesemia, is related to pseudohypoaldosteronism, type i, autosomal recessive and chondrocalcinosis, 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 Progesterone and Mifepristone have been mentioned in the context of this disorder. Affiliated tissues include Kidney, heart and skin, and related phenotypes are hypokalemia and failure to thrive

Common Targets
SLC12A3 | TRNF | TRNI | NPHS1

疾病靶点研报
Gitelman Syndrome

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