brain small vessel disease 1

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: col4a1

OMIM:

MIM:175780 - porencephaly 1; poren1
MIM:607595 - brain small vessel disease with hemorrhage

MIM:175780 - porencephaly 1; poren1

MIM:607595 - brain small vessel disease with hemorrhage

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), brain disease (is_a)