neuronal ceroid lipofuscinosis
GPTKB entity
Statements (45)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
neurodegenerative disease lysosomal storage disorder |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:characterizedBy |
cognitive decline
vision loss seizures progressive neurological impairment motor decline |
| gptkbp:diagnosedBy |
gptkb:EEG
MRI genetic testing enzyme assay |
| gptkbp:firstDescribed |
1903
|
| https://www.w3.org/2000/01/rdf-schema#label |
neuronal ceroid lipofuscinosis
|
| gptkbp:ICD-10_code |
E75.4
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D009435
|
| gptkbp:mutationAssociatedWith |
CLN3 gene
CLN1 gene CLN10 gene CLN2 gene CLN5 gene CLN6 gene CLN7 gene CLN8 gene |
| gptkbp:namedAfter |
gptkb:Frederick_Batten
|
| gptkbp:OMIM |
256730
|
| gptkbp:onset |
adult
juvenile late-infantile infantile |
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
progressive and fatal
|
| gptkbp:synonym |
gptkb:NCL
Batten disease |
| gptkbp:treatment |
enzyme replacement therapy
symptomatic management |
| gptkbp:bfsParent |
gptkb:CTSD
gptkb:CLN7FF gptkb:CTSD_(human) gptkb:CLNBL gptkb:Spielmeyer-Vogt_disease |
| gptkbp:bfsLayer |
8
|