Lesch-Nyhan syndrome (DOID:1919)
Alliance: disease page
Synonyms: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; deficiency of IMP pyrophosphorylase; HG-PRT deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency; Lesch - Nyhan syndrome; X-linked hyperuricemia
Alt IDs: OMIM:300322, ICD10CM:E79.1, MESH:D007926, NCI:C61255, UMLS_CUI:C0023374
Definition: A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26.