brain small vessel disease 1

Term ID

DOID:0090125

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

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. (3)

References

• OMIM:175780
• ORDO:36383

Ontology

Human Disease   ( DOID:0090125 )