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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
Disease Ontology
DOID:1919
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11821 Aprt adenine phosphoribosyl transferase
15452 Hprt1 hypoxanthine phosphoribosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24465 Hprt1 hypoxanthine phosphoribosyltransferase 1
292072 Aprt adenine phosphoribosyl transferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
48224 Aprt Adenine phosphoribosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100124954 prtfdc1 phosphoribosyl transferase domain containing 1 Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
172232 aprt-1 Adenine phosphoribosyltransferase;adenine phosphoribosyltransferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source
852051 APT2 adenine phosphoribosyltransferase APT2
854986 APT1 adenine phosphoribosyltransferase APT1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 39 in total
HPO ID HPO Term
HP:0001256 Intellectual disability, mild
HP:0002149 Hyperuricemia
HP:0000708 Atypical behavior
HP:0004374 Hemiplegia/hemiparesis
HP:0001903 Anemia
HP:0000083 Renal insufficiency
HP:0002342 Intellectual disability, moderate
HP:0001257 Spasticity
HP:0100022 Abnormality of movement
HP:0000790 Hematuria
Displaying 1 entry
Gene ID Gene Symbol Description
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024