| Metadata | |
|---|---|
| ID | DOID:0111567 |
| Name | retinal vasculopathy with cerebral leukodystrophy |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:783787000 |
| Subsets |
DO_rare_slim |
| Synonyms |
CRV [EXACT] hereditary cerebroretinal vasculopathy [EXACT] retinal vasculopathy and cerebral leukoencephalopathy [EXACT] retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations [EXACT] retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena [EXACT] RVCL [EXACT] RVCL-S [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a vascular disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |