Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurodegenerative disease
rare disease lysosomal storage disorder |
| gptkbp:accumulationOf |
lipopigments
|
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
Batten disease
Juvenile Neuronal Ceroid Lipofuscinosis |
| gptkbp:category |
neuronal ceroid lipofuscinoses
|
| gptkbp:cause |
premature death
|
| gptkbp:diagnosedBy |
genetic testing
enzyme assay |
| gptkbp:firstDescribed |
1903
|
| gptkbp:hasOrphanetID |
ORPHA:792
|
| https://www.w3.org/2000/01/rdf-schema#label |
CLN3 disease
|
| gptkbp:ICD-10_code |
E75.4
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
CLN3 gene
|
| gptkbp:namedAfter |
gptkb:Frederick_Batten
|
| gptkbp:OMIM |
204200
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
progressive
|
| gptkbp:symptom |
cognitive decline
vision loss seizures motor impairment behavioral problems |
| gptkbp:symptomOnsetAge |
5-10 years
|
| gptkbp:treatment |
supportive care
symptomatic management |
| gptkbp:bfsParent |
gptkb:16p13.13
|
| gptkbp:bfsLayer |
7
|