CADASIL1

GPTKB entity

Statements (18)
Predicate Object
gptkbp:instanceOf genetic disorder
gptkbp:affects gptkb:nervous_system
gptkbp:associatedWith gptkb:NOTCH3
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed 1993
gptkbp:fullName Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1
https://www.w3.org/2000/01/rdf-schema#label CADASIL1
gptkbp:inheritance autosomal dominant
gptkbp:OMIM 125310
gptkbp:onset adulthood
gptkbp:prevalence rare
gptkbp:progression progressive
gptkbp:symptom gptkb:migraine_with_aura
cognitive decline
psychiatric disturbances
recurrent strokes
gptkbp:bfsParent gptkb:NOTCH3_gene
gptkbp:bfsLayer 8