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gptkbp:instanceOf
|
genetic disorder
cerebral small vessel disease
|
|
gptkbp:abbreviation
|
gptkb:CADASIL
|
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gptkbp:affects
|
small blood vessels in the brain
|
|
gptkbp:alternativeName
|
gptkb:Cerebral_Autosomal_Dominant_Arteriopathy_with_Subcortical_Infarcts_and_Leukoencephalopathy
|
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gptkbp:diagnosedBy
|
genetic testing
MRI brain imaging
|
|
gptkbp:firstDescribed
|
1993
|
|
gptkbp:hasNoCure
|
true
|
|
gptkbp:hasOrphanetID
|
ORPHA636
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CADASIL disease
|
|
gptkbp:ICD-10_code
|
I67.850
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:MeSH_ID
|
D020754
|
|
gptkbp:mutationAssociatedWith
|
gptkb:NOTCH3_gene
|
|
gptkbp:notableContributor
|
gptkb:Marie-Germaine_Bousser
Eric Tournier-Lasserve
|
|
gptkbp:OMIM
|
125310
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:prognosis
|
progressive
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:dementia
gptkb:migraine_with_aura
cognitive decline
psychiatric disturbances
recurrent strokes
|
|
gptkbp:treatment
|
symptomatic management
|
|
gptkbp:bfsParent
|
gptkb:CADASIL_protein
|
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gptkbp:bfsLayer
|
8
|