RVCL
MCID: VSC016
MIFTS: 46
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Vasculopathy, Retinal, with Cerebral Leukodystrophy (RVCL)
Categories:
Bone diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Vasculopathy, Retinal, with Cerebral Leukodystrophy:
Characteristics:Orphanet epidemiological data:59
retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Inheritance: Autosomal dominant; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
progressive disorder onset in adulthood death occurs 5 to 10 years after onset HPO:32
vasculopathy, retinal, with cerebral leukodystrophy:
Inheritance autosomal dominant inheritance Onset and clinical course progressive adult onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Nephrological diseases Bone diseases
Orphanet: 59
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NIH Rare Diseases
:
53
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. RVCL is inherited in an autosomal dominant manner and is caused by mutations in the TREX1 gene. Treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause.RVCL is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR).
MalaCards based summary : Vasculopathy, Retinal, with Cerebral Leukodystrophy, also known as rvcl, is related to aicardi-goutieres syndrome and hereditary endotheliopathy, retinopathy, nephropathy, and stroke, and has symptoms including seizures and hemiparesis. An important gene associated with Vasculopathy, Retinal, with Cerebral Leukodystrophy is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Cytosolic DNA-sensing pathway and Chks in Checkpoint Regulation. The drugs Aclarubicin and Aclacinomycins have been mentioned in the context of this disorder. Affiliated tissues include brain, retina and skin, and related phenotypes are leukodystrophy and focal white matter lesions OMIM : 57 Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud's phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by Richards et al., 2007). (192315) KEGG : 37 ![]() UniProtKB/Swiss-Prot : 74 Vasculopathy, retinal, with cerebral leukodystrophy: 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. Wikipedia : 75 Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy (AD-RVCL) (previously known also as... more... |
Human phenotypes related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:59 32 (show all 39)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:192315UMLS symptoms related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:seizures, hemiparesis |
Drugs for Vasculopathy, Retinal, with Cerebral Leukodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
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MalaCards organs/tissues related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:41
Brain,
Retina,
Skin,
Eye,
Liver,
Bone,
Kidney
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Articles related to Vasculopathy, Retinal, with Cerebral Leukodystrophy:(show top 50) (show all 51)
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ClinVar genetic disease variations for Vasculopathy, Retinal, with Cerebral Leukodystrophy:6 (show top 50) (show all 51)
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Search
GEO
for disease gene expression data for Vasculopathy, Retinal, with Cerebral Leukodystrophy.
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Pathways related to Vasculopathy, Retinal, with Cerebral Leukodystrophy according to KEGG:37
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Cellular components related to Vasculopathy, Retinal, with Cerebral Leukodystrophy according to GeneCards Suite gene sharing:
Biological processes related to Vasculopathy, Retinal, with Cerebral Leukodystrophy according to GeneCards Suite gene sharing:
Molecular functions related to Vasculopathy, Retinal, with Cerebral Leukodystrophy according to GeneCards Suite gene sharing:
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