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MIRAGE
Lesch-Nyhan syndrome
Summary
- Synonym
-
- Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
- HG-PRT deficiency
- HPRT1 deficiency
- Hypoxanthine-guanine phosphoribosyltransferase deficiency
- Hypoxanthine-guanine-phosphoribosyltransferase deficiency
- Lesch - Nyhan syndrome
- X-linked hyperuricemia
- deficiency of IMP pyrophosphorylase
- hypoxanthine guanine phosphoribosyltransferase deficiency
- 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.
- Super Class
- X-linked recessive disease purine-pyrimidine metabolic disorder
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002421 | Poor head control |
| HP:0002827 | Hip dislocation |
| HP:0003149 | Hyperuricosuria |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0004322 | Short stature |
| HP:0011462 | Young adult onset |
| HP:0011463 | Childhood onset |
| HP:0100716 | Self-injurious behavior |
