Lesch-Nyhan Syndrome

About the Disease
Lesch-Nyhan Syndrome, also known as hypoxanthine-guanine phosphoribosyltransferase deficiency, is related to disorder of purine metabolism and hyperuricemia, hprt-related, and has symptoms including vomiting, opisthotonus and abnormality of extrapyramidal motor function. An important gene associated with Lesch-Nyhan Syndrome is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism and Disease. The drugs Dopamine and Ecopipam have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and bone marrow, and related phenotypes are spasticity and behavioral abnormality

Common Targets
SLC22A12 | DRD5 | DRD1 | HPRT1 | APP

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