RVCLS
MCID: VSC063
MIFTS: 61
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Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations (RVCLS)
Categories:
Bone diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and...
MalaCards integrated aliases for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:
Characteristics:Inheritance:
Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:
Autosomal dominant 57
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations:
Autosomal dominant 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
progressive disorder onset in adulthood death occurs 5 to 10 years after onset HPO:30
vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations:
Onset and clinical course progressive GeneReviews:24
Penetrance Penetrance of rvcl-s is age dependent; however, it is thought that all individuals with a heterozygous pathogenic trex1 variant will develop features of this condition if they live long enough.
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Eye diseases Neuronal diseases Bone diseases Cardiovascular diseases
ICD10:
32
ICD11:
33
Orphanet: 58
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GARD: 19 Retinal vasculopathy with cerebral leukodystrophy and systemic manifestations (RVCL-S) affects the small blood vessels in the central nervous system and other organs. Symptoms begin in adulthood and can include loss of vision, Raynaud's disease, kidney and liver disease, and cognitive problems that get worse over time. Other symptoms may include migraines, gastrointestinal bleeding, and hypothyroidism. RVCL-S is caused by genetic variations in the TREX1 gene, and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies of the brain, and may be confirmed by the results of genetic testing. MalaCards based summary: Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations, also known as retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, is related to aicardi-goutieres syndrome 1 and vascular dementia, and has symptoms including hemiparesis and seizures. An important gene associated with Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Cytosolic sensors of pathogen-associated DNA and Pathways of nucleic acid metabolism and innate immune sensing. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include retina, eye and brain, and related phenotypes are raynaud phenomenon and hypertension UniProtKB/Swiss-Prot: 73 An adult-onset, autosomal dominant endotheliopathy affecting the microvessels of the brain. It results 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. A subset of patients have systemic vascular involvement that can manifest as Raynaud phenomenon, micronodular cirrhosis, and glomerular dysfunction. OMIM®: 57 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCLS) 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 phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by Richards et al., 2007). (192315) (Updated 08-Dec-2022) Disease Ontology: 11 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. Wikipedia: 75 Retinal vasculopathy with cerebral leukocencephalopathy and systemic manifestations (RVCL or RVCL-S,... more...
GeneReviews:
NBK546576
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Human phenotypes related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:58 30 (show top 50) (show all 75)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:192315 (Updated 08-Dec-2022)UMLS symptoms related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:hemiparesis; seizures MGI Mouse Phenotypes related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:45
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Drugs for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 8)
Interventional clinical trials:
Cochrane evidence based reviews: vasculopathy, retinal, with cerebral leukodystrophy |
Organs/tissues related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:
MalaCards :
Retina,
Eye,
Brain,
Bone,
Liver,
Kidney,
Thyroid
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Articles related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:(show top 50) (show all 145)
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ClinVar genetic disease variations for Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations:5 (show top 50) (show all 270)
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Cellular components related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations according to GeneCards Suite gene sharing:
Biological processes related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations according to GeneCards Suite gene sharing:(show all 19)
Molecular functions related to Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations according to GeneCards Suite gene sharing:
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