cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
gptkb:CADASIL
|
| gptkbp:affects |
small blood vessels in the brain
|
| gptkbp:category |
cerebrovascular disease
leukoencephalopathy |
| gptkbp:diagnosedBy |
genetic testing
MRI brain imaging |
| gptkbp:firstDescribed |
1993
|
| gptkbp:frequency |
rare
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:NOTCH3_gene
|
| gptkbp:OMIM |
125310
|
| gptkbp:symptom |
gptkb:migraine_with_aura
cognitive decline psychiatric disturbances recurrent strokes |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Notch3
|
| gptkbp:bfsLayer |
8
|