Cystinuria

About the Disease
Cystinuria, also known as csnu, is related to 2p21 microdeletion syndrome without cystinuria and hypotonia-cystinuria syndrome. An important gene associated with Cystinuria is SLC3A1 (Solute Carrier Family 3 Member 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Penicillamine and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include Kidney, colon and small intestine, and related phenotypes are abnormality of amino acid metabolism and hematuria

Common Targets
SLC7A9 | NF-kappaB (NFkB) | PBX1 | F5 | MTHFR | RYR1 | SLC3A1

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