Orotic Aciduria

About the Disease
Orotic Aciduria, also known as hereditary orotic aciduria, is related to developmental and epileptic encephalopathy 50 and lysinuric protein intolerance. An important gene associated with Orotic Aciduria is UMPS (Uridine Monophosphate Synthetase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include liver, bone marrow and kidney, and related phenotypes are global developmental delay and aminoaciduria

Common Targets
RC3H1 | UMPS

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