OBO ID: DOID:1919
Term Name: Lesch-Nyhan syndrome Search Ontology:
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
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. https://pubmed.ncbi.nlm.nih.gov/31182398/
References:
Ontology: Human Disease   ( DOID:1919 )
OTHER Lesch-Nyhan syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HPRT1 Lesch-Nyhan syndrome 300322
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)