Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
lysosomal storage disease |
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
Sanfilippo syndrome
|
| gptkbp:causedBy |
mutation in genes involved in heparan sulfate degradation
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1963
Sylvester Sanfilippo |
| https://www.w3.org/2000/01/rdf-schema#label |
MPS III
|
| gptkbp:ICD-10_code |
E76.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
252900
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
MPS IIIA
MPS IIIB MPS IIIC MPS IIID |
| gptkbp:symptom |
sleep disturbances
loss of motor skills behavioral problems progressive intellectual disability |
| gptkbp:treatment |
supportive care
symptom management |
| gptkbp:bfsParent |
gptkb:Mucopolysaccharidosis
|
| gptkbp:bfsLayer |
5
|