Version: 8.0.0
Date: Tue Jan 28 2025
Lesch-Nyhan syndrome
DOID:1919
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Lesch-Nyhan syndrome

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
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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