OBO ID: DOID:0111567
Term Name: retinal vasculopathy with cerebral leukodystrophy Search Ontology:
Synonyms:
  • CRV
  • hereditary cerebroretinal vasculopathy
  • retinal vasculopathy and cerebral leukoencephalopathy
  • retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
  • retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
  • RVCL
  • RVCL-S
Definition: A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/17660820
References:
Ontology: Human Disease   ( DOID:0111567 )
OTHER retinal vasculopathy with cerebral leukodystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TREX1 Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None