{"orpha":247691,"name":"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RVCL","RVCL-S","Retinal vasculopathy and cerebral leukoencephalopathy"],"definition":"A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247691/","orphanet_url":"https://www.orpha.net/en/disease/detail/247691","names":{"fr":{"name":"Vasculopathie rétinienne avec leucoencéphalopathie cérébrale et manifestations systémiques","synonyms":["RVCL","RVCL-S","Vasculopathie rétinienne avec leucoencéphalopathie cérébrale"],"definition":"Maladie génétique rare des petites artères cérébrales caractérisée par une perte progressive de l'acuité visuelle due à une vasculopathie rétinienne, associée à des signes et symptômes neurologiques plus variables, notamment un accident vasculaire cérébral, un déclin cognitif, des maux de tête à type de migraine et des crises d'épilepsie, entre autres, débutant typiquement à un âge moyen. Des affections psychiatriques telles que la dépression et l'anxiété peuvent également s'observer. Un sous-groupe de patients présente une atteinte vasculaire systémique avec phénomène de Raynaud, cirrhose hépatique micronodulaire et insuffisance rénale d'origine glomérulaire."},"de":{"name":"Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen","synonyms":["RVCL","RVCL-S","Retinale Vaskulopathie und zerebrale Leukoenzephalopathie"],"definition":"Eine seltene genetisch bedingte zerebrale Erkrankung der kleinen Gefäße, die durch einen fortschreitenden Verlust der Sehschärfe aufgrund einer retinalen Vaskulopathie in Kombination mit unterschiedlicheren neurologischen Anzeichen und Symptomen wie Schlaganfall, kognitivem Verfall, migräneartigen Kopfschmerzen und Krampfanfällen gekennzeichnet ist und typischerweise im mittleren Alter beginnt. Psychiatrische Merkmale wie Depressionen und Angstzustände können ebenfalls auftreten. Bei einer Untergruppe von Patienten liegt eine systemische Gefäßbeteiligung mit Raynaud-Phänomen, mikronodulärer Leberzirrhose und glomerulärer Nierenfunktionsstörung vor."},"es":{"name":"Vasculopatía retiniana con leucoencefalopatía cerebral y manifestaciones sistémicas","synonyms":["RVCL","RVCL-S","Vasculopatía retiniana y leucoencefalopatía cerebral"],"definition":"Es una enfermedad cerebral de pequeños vasos de origen genético y poco frecuente caracterizada por pérdida progresiva de la agudeza visual debido a la vasculopatía retiniana, en combinación con signos y síntomas neurológicos variables que incluyen accidente cerebrovascular, afectación cognitiva, cefaleas de tipo migrañoso y crisis epilépticas, entre otros, que generalmente comienzan en la mediana edad. También pueden presentarse características psiquiátricas como depresión y ansiedad. En un subgrupo de pacientes se ha descrito afectación vascular sistémica con fenómeno de Raynaud, cirrosis hepática micronodular y disfunción renal glomerular."},"it":{"name":"Vasculopatia retinica e leucodistrofia cerebrale","synonyms":["RVCL"]},"nl":{"name":"Retinale vasculopathie met cerebrale leuko-encefalopathie en systemische manifestaties","synonyms":["RVCL","RVCL-S","Retinale vasculopathie en cerebrale leuko-encefalopathie"],"definition":"Een zeldzame genetische aandoening van cerebrale kleine bloedvaten, gekenmerkt door progressief verlies van gezichtsscherpte door retinale vasculopathie, in combinatie met meer variabele neurologische verschijnselen en symptomen, waaronder beroerte, cognitieve aftakeling, op migraine gelijkende hoofdpijn, en insulten, die doorgaans beginnen op middelbare leeftijd. Psychiatrische kenmerken zoals depressie en angst kunnen ook voorkomen. Systemische vasculaire betrokkenheid met fenomeen van Raynaud, micronodulaire levercirrose, en disfunctie van glomerulaire nier is present bij een deel van de patiënten."},"pt":{"name":"Vasculopatia retiniana e leucodistriofia cerebral","definition":"Doença genética rara de pequenos vasos cerebrais caracterizada por perda progressiva de acuidade visual devido a vasculopatia retiniana, em combinação com sinais e sintomas neurológicos mais variáveis, incluindo acidente vascular cerebral, declínio cognitivo, cefaleias semelhantes a enxaquecas e convulsões, entre outros, geralmente começando na meia-idade. Manifestações psiquiátricas como depressão e ansiedade também podem ocorrer. O envolvimento vascular sistémico com fenómeno de Raynaud, cirrose hepática micronodular e disfunção renal glomerular está presente num subconjunto de doentes."},"pl":{"name":"Waskulopatia siatkówki i leukoencefalopatia mózgu","synonyms":["RVCL"]},"cs":{"name":"Retinální vaskulopatie a cerebrální leukodystrofie","synonyms":["RVCL"]},"uk":{"name":"Васкулопатія сітківки з церебральною лейкоенцефалопатією та системними проявами","synonyms":["Васкулопатія сітківки та церебральна лейкоенцефалопатія","RVCL","RVCL-S"],"definition":"A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients."},"zh":{"name":"视网膜血管病变伴脑白质营养不良和全身表现","synonyms":["视网膜血管病变伴脑白质病变"],"definition":"视网膜血管病和脑白质营养不良（RVCL）是一组遗传性小血管疾病，包括脑视网膜血管病（CRV）、遗传性血管性视网膜病变（HRV）和遗传性内皮病伴视网膜病变、肾病和脑卒中（HERNS；见这些词条）；所有患者都表现出进行性视力损害以及各种脑功能障碍。"},"tr":{"name":"Serebral lökoensefalopati ve sistemik belirtiler ile seyreden retinal vaskülopati","synonyms":["RVCL","RVCL-S","Retinal vaskülopati ve serebral lökoensefalopati"]}},"xrefs":[{"source":"OMIM","code":"192315","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B78.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"554838792"},{"source":"MONDO","code":"0008641","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860518","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1217","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3421,"name":"Cerebroretinal vasculopathy","status":"inactive"},{"type":"Moved to","orpha":63261,"name":"HERNS syndrome","status":"inactive"},{"type":"Moved to","orpha":71291,"name":"Hereditary vascular retinopathy","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":477754,"name":"Genetic cerebral small vessel disease","classifications":[156,181]},{"orpha":716459,"name":"Rare disorder with progressive retinal vasculopathy as a major feature","classifications":[189]},{"orpha":717348,"name":"Rare genetic disorder with progressive retinal vasculopathy as a major feature","classifications":[156]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]}],"children":[],"genes":[{"symbol":"TREX1","name":"three prime repair exonuclease 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17660820[PMID]_18583934[PMID]_20876473[PMID]","hgnc":"12269","ensembl":"ENSG00000213689","omim":"606609","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-12","source":"20876473[PMID]_31536185[PMID]","terms":[{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006707","label":"Abnormality of the hepatic vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008223","label":"Compensated hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000096","label":"Glomerulosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011954","label":"Nodular regenerative hyperplasia of liver","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001895","label":"Normochromic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040328","label":"Focal hyperintensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040331","label":"Focal hypointensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012377","label":"Hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040049","label":"Macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002077","label":"Migraine with aura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002083","label":"Migraine without aura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031606","label":"Retinal cotton wool spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030666","label":"Retinal neovascularization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011163","label":"Somatosensory auras","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001009","label":"Telangiectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200030","label":"Punctate vasculitis skin lesions","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very rare (<4-1%)","criteria":null}]}}