Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy: genes and variants
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is linked to 1 analyzed protein (NOTCH3). 1 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
NOTCH3: Neurogenic locus notch homolog protein 3
Its signaling helps maintain vascular smooth-muscle and mural-cell identity in small arteries. Pathogenic cysteine-altering variants cause CADASIL, with migraine, recurrent ischemic strokes, white-matter disease, and progressive cognitive impairment.
1 disease-causing and 0 uncertain variants in NOTCH3 are linked to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy.
Weakly linked (only a few uncertain records): TREX1.
Known disease-causing variants in Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| NOTCH3 C155G | 155 | EGF-like 3 | Disease-causing |
Same protein, different disease
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 is also caused by NOTCH3 variants; they fall mostly in different places as the Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy variants (89 disease-causing).
- Lateral meningocele syndrome is also caused by NOTCH3 variants; they fall mostly in different places as the Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy variants (12 disease-causing).
- Myofibromatosis, infantile, 2 is also caused by NOTCH3 variants; they fall mostly in different places as the Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy variants (12 disease-causing).
Diseases related to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
- Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, also linked to NOTCH3
- Myofibromatosis, infantile, 2, also linked to NOTCH3
- Auditory neuropathy, also linked to NOTCH3
- Lateral meningocele syndrome, also linked to NOTCH3
- Adams-Oliver syndrome, also linked to NOTCH3
- Ischemic stroke, also linked to NOTCH3
Frequently asked questions
Which genes are linked to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy?
In CATVariant, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy is linked to 1 analyzed protein: NOTCH3 (Neurogenic locus notch homolog protein 3).
How many genetic variants are linked to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy?
8 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
Download every variant as CSV · Browse all diseases · Methods · About the Center