Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
purine metabolism
|
| gptkbp:affectsMostly |
males
|
| gptkbp:alsoKnownAs |
gptkb:LNS
|
| gptkbp:characterizedBy |
intellectual disability
gout spasticity kidney stones neurological dysfunction hyperuricemia self-mutilating behaviors |
| gptkbp:deficiencyCauses |
gptkb:hypoxanthine-guanine_phosphoribosyltransferase
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
gptkb:Michael_Lesch
gptkb:William_Nyhan 1964 |
| https://www.w3.org/2000/01/rdf-schema#label |
Lesch–Nyhan syndrome
|
| gptkbp:ICD-10_code |
E79.1
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:MeSH_ID |
D007926
|
| gptkbp:mutationAssociatedWith |
gptkb:HPRT1_gene
|
| gptkbp:namedAfter |
gptkb:Michael_Lesch
gptkb:William_Nyhan |
| gptkbp:OMIM |
300322
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
aggression
developmental delay dystonia chorea |
| gptkbp:treatment |
allopurinol
symptomatic management |
| gptkbp:bfsParent |
gptkb:Frances_Robinson_Nyhan
|
| gptkbp:bfsLayer |
6
|