Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
males predominantly
purine metabolism |
| gptkbp:alsoKnownAs |
gptkb:Lesch-Nyhan_disease
|
| gptkbp:characterizedBy |
intellectual disability
gout spasticity chorea kidney stones neurological dysfunction hyperuricemia self-mutilating behaviors |
| gptkbp:deficiencyCauses |
hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
|
| 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:OMIM |
300322
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
aggression
developmental delay involuntary movements self-injury uric acid crystals in urine |
| gptkbp:treatment |
supportive care
allopurinol |
| gptkbp:bfsParent |
gptkb:Nyhan_syndrome
gptkb:X-linked_intellectual_disability |
| gptkbp:bfsLayer |
7
|