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
External Links
Disease Ontology
DOID:1919
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
4860 PNP purine nucleoside phosphorylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
15452 Hprt1 hypoxanthine phosphoribosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24465 Hprt1 hypoxanthine phosphoribosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100124954 prtfdc1 phosphoribosyl transferase domain containing 1 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 21 - 30 of 39 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024