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Human Disease

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
Ontology
Human Disease   ( DOID:0090125 )
Relationships
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Genes Involved
Zebrafish Models