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DOID:0090125 - brain small vessel disease 1
Disease Ontology 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.
Synonyms: BSVD, 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,
Echinobase Genes : col4a1
MIM:175780 - porencephaly 1; poren1 |
MIM:607595 - brain small vessel disease with hemorrhage |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee