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brain small vessel disease 1
Summary
- Synonym
-
- BSVD1
- COL4A1-related brain small vessel disease with hemorrhage
- COL4A1-related familial vascular leukoencephalopathy
- COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
- autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy
- brain small vessel disease with Axenfeld-Riegar anomaly
- brain small vessel disease with hemorrhage
- brain small vessel disease with or without ocular anomalies
- infantile hemiparesis
- leukoencephalopathy with Axenfeld-Riegar anomaly
- Definition
- A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34.
- Super Class
- autosomal dominant disease brain small vessel disease
External Links
- Disease Ontology
- DOID:0090125
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
