cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
Findings
No curated finding names cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.
Definition from the Mondo Disease Ontology (MONDO:0000914), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AbuliaHPOHP:0012671
- 1 of 1 reported patient
- LeukoencephalopathyHPOHP:0002352
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Memory impairmentHPOHP:0002354
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Perseverative thoughtHPOHP:0030223
- 1 of 1 reported patient
- Personality changesHPOHP:0000751
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NOTCH3HGNC:7883
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
9 names
Resolves to: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
- Also called
- autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1CADASILCADASIL syndromeCADASIL type 1CADASIL1CASILcerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1dementia, hereditary multi-infarct typehereditary multi-infarct dementia