brain small vessel disease 1 (DOID:0090125)
Alliance: disease page
Synonyms: 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; 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; infantile hemiparesis; leukoencephalopathy with Axenfeld-Riegar anomaly
Alt IDs: OMIM:175780, ORDO:36383
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.