Orphanet: COL4A1 related familial vascular leukoencephalopathy
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COL4A1-related familial vascular leukoencephalopathy

Disease definition

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

ORPHA:36383

Classification level: Disorder
  • Synonym(s):
    • COL4A1-related brain small vessel disease with hemorrhage
    • COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: -
  • OMIM: 175780  607595
  • UMLS: C1843512  C2930808
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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