Arts Syndrome

About the Disease
Arts Syndrome, also known as arts, is related to charcot-marie-tooth disease type 5 and urolithiasis, and has symptoms including ataxia, seizures and unspecified visual loss. An important gene associated with Arts Syndrome is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Metabolism and Metabolism of nucleotides. The drugs Sirolimus and Tangerine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and kidney, and related phenotypes are optic atrophy and blindness

Common Targets
PRPS1

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