Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
Synonyms

CADASIL1
ID

http://purl.bioontology.org/ontology/OMIM/125310
altLabel

CADASIL1

CASIL

DEMENTIA, HEREDITARY MULTIINFARCT TYPE

CADASIL
cui

C4551768

C0751587
Gene Locus

19p13.2-p13.1
Gene Symbol

CADASIL1

NOTCH3

CASIL

LMNS

IMF2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000541

http://purl.bioontology.org/ontology/OMIM/MTHU018689

http://purl.bioontology.org/ontology/OMIM/MTHU018684

http://purl.bioontology.org/ontology/OMIM/MTHU036673

http://purl.bioontology.org/ontology/OMIM/MTHU018694

http://purl.bioontology.org/ontology/OMIM/MTHU018683

http://purl.bioontology.org/ontology/OMIM/MTHU012413

http://purl.bioontology.org/ontology/OMIM/MTHU004323

http://purl.bioontology.org/ontology/OMIM/MTHU018687

http://purl.bioontology.org/ontology/OMIM/MTHU018688

http://purl.bioontology.org/ontology/OMIM/MTHU018679

http://purl.bioontology.org/ontology/OMIM/MTHU018680

http://purl.bioontology.org/ontology/OMIM/MTHU018682

http://purl.bioontology.org/ontology/OMIM/MTHU018678

http://purl.bioontology.org/ontology/OMIM/MTHU018685

http://purl.bioontology.org/ontology/OMIM/MTHU036392

http://purl.bioontology.org/ontology/OMIM/MTHU001673

http://purl.bioontology.org/ontology/OMIM/MTHU018686

http://purl.bioontology.org/ontology/OMIM/MTHU018691

http://purl.bioontology.org/ontology/OMIM/MTHU018695

http://purl.bioontology.org/ontology/OMIM/MTHU018693

http://purl.bioontology.org/ontology/OMIM/MTHU018681

http://purl.bioontology.org/ontology/OMIM/MTHU002000

http://purl.bioontology.org/ontology/OMIM/MTHU010058

http://purl.bioontology.org/ontology/OMIM/MTHU067112

http://purl.bioontology.org/ontology/OMIM/MTHU018674

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU067111
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

125310
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
Scope Statement

Presents as early-onset strokes in 43% of patients [MISCELLANEOUS]

Caused by mutations in the homolog of the Drosophila Notch 3 gene (NOTCH3, 600276.0001). [MOLECULAR BASIS]

Death usually in sixth decade [MISCELLANEOUS]

Adult onset (third decade) [MISCELLANEOUS]

Penetrance of disease is complete between 30 and 40 years of age [MISCELLANEOUS]
tui

T047
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