Lesch-Nyhan syndrome
Information
- Disease name
- Lesch-Nyhan syndrome
- Disease ID
- DOID:1919
- Description
- "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." [url:https\://pubmed.ncbi.nlm.nih.gov/31182398/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00004314 | Completed | Phase 2 | Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease | February 1996 | |
| NCT05548751 | Recruiting | Physiotherapy Assessment Based on the ICF Model in The Lesch-Nyhan Syndrome: Case Report | September 26, 2022 | September 30, 2022 |
- Disase is a (Disease Ontology)
- DOID:653
- Cross Reference ID (Disease Ontology)
- ICD10CM:E79.1
- Cross Reference ID (Disease Ontology)
- MESH:D007926
- Cross Reference ID (Disease Ontology)
- MIM:300322
- Cross Reference ID (Disease Ontology)
- NCI:C61255
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190918000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0023374
- Exact Synonym (Disease Ontology)
- Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
- Exact Synonym (Disease Ontology)
- deficiency of IMP pyrophosphorylase
- Exact Synonym (Disease Ontology)
- HG-PRT deficiency
- Exact Synonym (Disease Ontology)
- hypoxanthine guanine phosphoribosyltransferase deficiency
- Exact Synonym (Disease Ontology)
- Hypoxanthine-guanine phosphoribosyltransferase deficiency
- Exact Synonym (Disease Ontology)
- Hypoxanthine-guanine-phosphoribosyltransferase deficiency
- Exact Synonym (Disease Ontology)
- Lesch - Nyhan syndrome
- Exact Synonym (Disease Ontology)
- X-linked hyperuricemia
- OrphaNumber from OrphaNet (Orphanet)
- 510
- ICD10 preferred id (Insert disease from ICD10)
- D0003917
- ICD10 class code (Insert disease from ICD10)
- E79.1
- MeSH unique ID (MeSH (Medical Subject Headings))
- D007926