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Lesch-Nyhan syndrome
Summary
- Synonym
-
- Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
- HG-PRT 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 hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26.
- Super Class
- X-linked recessive disease purine-pyrimidine metabolic disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00491 | Purine nucleoside phosphorylase | |
| P00492 | Hypoxanthine-guanine phosphoribosyltransferase | |
| P07741 | Adenine phosphoribosyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001266 | Choreoathetosis |
| HP:0100716 | Self-injurious behavior |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001252 | Hypotonia |
| HP:0002421 | Poor head control |
| HP:0000029 | Testicular atrophy |
| HP:0001854 | Podagra |
| HP:0002827 | Hip dislocation |
| HP:0004322 | Short stature |
| HP:0001270 | Motor delay |
