retinal vasculopathy with cerebral leukodystrophy

Summary

DOID:0111567 - retinal vasculopathy with cerebral leukodystrophy

Disease Ontology 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.

Synonyms: CRV, RVCL, RVCL-S, 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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), vascular disease (is_a)