Lesch-Nyhan syndrome

Summary

DOID:1919 - Lesch-Nyhan syndrome

Disease Ontology 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 HPRT1 gene on chromosome Xq26.

Synonyms: Complete hypoxanthine-guanine phosphoribosyltransferase deficiency, deficiency of IMP pyrophosphorylase, HG-PRT deficiency, hypoxanthine guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder), Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous], Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]), Lesch - Nyhan syndrome, Lesch-Nyhan syndrome (disorder), X-linked hyperuricemia (disorder) [Ambiguous], HPRT1 deficiency, Hypoxanthine-guanine phosphoribosyltransferase deficiency, Hypoxanthine-guanine-phosphoribosyltransferase deficiency, X-linked hyperuricemia

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hprt1

MIM:

MIM:300322 - lesch-nyhan syndrome; lns

MIM:300322 - lesch-nyhan syndrome; lns

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): purine-pyrimidine metabolic disorder (is_a), X-linked recessive disease (is_a)