Lesch-Nyhan syndrome

Term ID

DOID:1919

Synonyms

• Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
• deficiency of IMP pyrophosphorylase
• HG-PRT deficiency
• HPRT1 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 HPRT1 gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/31182398/

References

• ICD10CM:E79.1
• MESH:D007926
• MIM:300322
• NCI:C61255
• SNOMEDCT_US_2023_03_01:190918000
• UMLS_CUI:C0023374

Ontology

Human Disease   ( DOID:1919 )