Vasculopathy, Retinal, with Cerebral Leukodystrophy (RVCL)

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Disease Ontology 12 DOID:0111567 OMIM 56 192315 KEGG 36 H01000 MeSH 43 C566007 D002561 D012164 UMLS via Orphanet 72 C1860518

Orphanet 58 ORPHA247691 MedGen 41 C1860518 SNOMED-CT via HPO 68 112641009 127377003 128613002 165468009 166603001 166643006 192781003 197679002 20022000 21861000 230690007 246545002 246635007 247479008 252157006 255314001 25786006 263681008 266261006 277843001 28998008 29555009 29738008 313307000 34436003 37231002 37796009 397540003 397974008 398026008 39832008 52448006 53298000 53312001 59073000 68345001 6950007 75183008 7973008 8011004 84757009 85102008 90708001 90834002 91175000 more UMLS 71 C1860518

NIH Rare Diseases : ⁵² Hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS) is a rare genetic disease that affects the inner lining of the blood vessels. This lining is called the endothelium , and a disease that affects the endothelium is known as an endotheliopathy. Specifically, the parts of the body that are affected include the small blood vessels of the brain (microangiopathy), retina (vascular retinopathy ), and kidneys (nephropathy). Signs and symptoms may include progressive vision loss beginning in adulthood, psychiatric or neurological problems, an increased risk for a stroke , and kidney disease . Researchers have discovered that HERNS is caused by genetic changes (mutations or pathogenic variants) in the TREX1 gene . There are other diseases that are also caused by pathogenic variants in TREX1 . Two of these diseases are called cerebroretinal vasculopathy (CRV) and hereditary vascular retinopathy (HVR) . These diseases have similar signs and symptoms with varying severity. All of these diseases together are known as retinal vasculopathy with cerebral leukodystrophy (RVCL) . In many cases, the more general term RVCL is used to describe any of these diseases. HERNS is inherited in an autosomal dominant manner. Diagnosis is based on observing symptoms of the disease and can be confirmed with genetic testing . Treatment options for HERNS may be limited, but medications or procedures may help slow the progression of symptoms.

MalaCards based summary : Vasculopathy, Retinal, with Cerebral Leukodystrophy, also known as rvcl, is related to aicardi-goutieres syndrome and hydrocephalus due to congenital stenosis of aqueduct of sylvius, 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 Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and retina, and related phenotypes are leukodystrophy and focal white matter lesions

Disease Ontology : ¹² 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.

OMIM : ⁵⁶ 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 : ³⁶ Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare autosomal dominant microvascular endotheliopathy with middle-age onset. At around the age of 45, affected individuals may develop retinal and cerebral dysfunction. Death occurs in most cases within 10 years of the first symptoms appearing. The disease-causing mutations of TREX1 lead to truncation and abnormal localization of the 3'-5' exonuclease.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy (AD-RVCL) (previously known also as... more...

GeneReviews: NBK546576

Clinical features from OMIM:

192315

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