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DO Term : brain small vessel disease 1 [DOID:0090125] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • ORDO:36383,
  • COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome,
  • leukoencephalopathy with Axenfeld-Riegar anomaly,
  • brain small vessel disease with Axenfeld-Riegar anomaly,
  • brain small vessel disease with hemorrhage,
  • BSVD1,
  • 175780,
  • infantile hemiparesis,
  • autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy,
  • COL4A1-related familial vascular leukoencephalopathy,
  • OMIM:175780,
  • COL4A1-related brain small vessel disease with hemorrhage,
  • brain small vessel disease with or without ocular anomalies
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