You are using an outdated browser. Please upgrade your browser to improve your experience.

retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.
Uniprot Description A microvascular endotheliopathy resulting in central nervous system degeneration and retinopathy, with progressive loss of vision, stroke, motor impairment, and cognitive decline. The ocular manifestations are characterized by telangiectasias, microaneurysms and retinal capillary obliteration starting in the macula. Diseased cerebral white matter has prominent small infarcts that often coalesce to pseudotumors.
Mondo Term and Equivalent IDs
MONDO:0008641:  retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
DOID:0111567: 
GARD:0001217: 
GARD:0002558: 
GARD:0010535: 
MESH:C566007: 
Orphanet:247691: 
SCTID:720854004: 
SCTID:721141004: 
UMLS:C1860518: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found