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Disease Ontology Browser
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory