Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
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:0100022 | Abnormality of movement |
| HP:0000029 | Testicular atrophy |
| HP:0000121 | Nephrocalcinosis |
| HP:0000787 | Nephrolithiasis |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001266 | Choreoathetosis |
