Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder inborn error of metabolism |
| gptkbp:affects |
males predominantly
|
| gptkbp:category |
neurological disorder
purine metabolism disorder |
| gptkbp:characterizedBy |
intellectual disability
gout spasticity chorea neurological dysfunction self-mutilation hyperuricemia |
| gptkbp:deficiencyCauses |
gptkb:hypoxanthine-guanine_phosphoribosyltransferase_(HPRT)
|
| gptkbp:firstDescribed |
gptkb:Michael_Lesch
gptkb:William_Nyhan 1964 |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Nyhan syndrome
|
| gptkbp:ICD-10_code |
E79.1
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:HPRT1_gene
|
| gptkbp:OMIM |
300322
|
| gptkbp:symptom |
aggressive behavior
dystonia orange sand in diapers uric acid kidney stones |
| gptkbp:synonym |
gptkb:Lesch-Nyhan_disease
gptkb:Lesch-Nyhan_syndrome |
| gptkbp:treatment |
allopurinol (for hyperuricemia)
|
| gptkbp:bfsParent |
gptkb:Frances_Robinson_Nyhan
|
| gptkbp:bfsLayer |
6
|