{"orpha":3086,"name":"Autosomal dominant vitreoretinochoroidopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADVIRC"],"definition":"A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3086/","orphanet_url":"https://www.orpha.net/en/disease/detail/3086","names":{"fr":{"name":"Vitréo-rétino-choroïdopathie autosomique dominante","synonyms":["ADVIRC"],"definition":"La vitréo-rétino-choroïdopathie autosomique dominante (ADVIRC) est une maladie vitréorétinienne génétique caractérisée par des anomalies du développement oculaire, telles qu'une microcornée, une chambre antérieure peu profonde, un glaucome et une cataracte. Une pigmentation choriorétinienne anormale est présente, s'étendant généralement à 360° entre les veines du vortex et l'ora serrata."},"de":{"name":"Vitreoretinochoroidopathie, autosomal-dominante","synonyms":["ADVIRC"],"definition":"Die Autosomal-dominante Vitreo-retino-choroidopathie (ADVIRC) ist eine genetisch bedingte vitreo-retinale Erkrankung. Charakteristisch sind Entwicklungsanomalien der Augen, wie Mikrokornea, flache Vorderkammer, Glaukom und Katarakt. Es besteht eine abnorme chorio-retinale Pigmentierung, die in der Regel zwischen den Vortexvenen und der Ora serrata als 360&#176; umfassendes Band auftritt."},"es":{"name":"Retinocoroidopatía vítrea autosómica dominante","synonyms":["ADVIRC"],"definition":"Es una enfermedad genética vitreorretiniana caracterizada por anomalías oculares del desarrollo como microcórnea, una cámara anterior superficial, glaucoma y cataratas. Se observa pigmentación coriorretiniana anómala, normalmente entre las venas del vórtice y el borde anterior de la retina de 360 grados."},"it":{"name":"Vitreo-retino-coroidopatia autosomica dominante","synonyms":["ADVIRC"],"definition":"La vitreoretinocoroidopatia autosomica dominante (ADVIRC) è una malattia vitreo-retinica genetica, caratterizzata da anomalie dello sviluppo oculare, come la microcornea, la camera anteriore bassa, il glaucoma e la cataratta. È presente una pigmentazione anomala della corioretina, di solito tra le vene vorticose e l'ora serrata su 360 gradi."},"nl":{"name":"Autosomaal dominante vitreoretinochoroïdopathie","synonyms":["ADVIRC"],"definition":"Een zeldzame, genetische vitreoretinale aandoening, gekarakteriseerd door afwijkingen van de oogontwikkeling zoals microcornea, een ondiepe voorste kamer, glaucoom en cataract. Er is abnormale chorioretinale pigmentatie aanwezig, meestal gelegen tussen de venae vorticosae en het begin van het netvlies (ora serrata) op 360 graden."},"pt":{"name":"Vitreo-retino-coroidopatia autossómica dominante"},"pl":{"name":"Autosomalna dominująca witreoretinochoroidopatia","synonyms":["ADVIRC"]},"cs":{"name":"Autozomálně dominantní vitreoretinochoroidopatie","synonyms":["ADVIRC"]},"uk":{"name":"Аутосомно-домінантна вітреоретинохоріоідеопатія","synonyms":["ADVIRC"],"definition":"A rare, genetic, vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees."},"zh":{"name":"常染色体显性遗传玻璃体视网膜脉络膜病","synonyms":["ADVIRC"]},"tr":{"name":"Otozomal dominant vitreoretinokoroidopati","synonyms":["ADVIRC"]}},"xrefs":[{"source":"OMIM","code":"193220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"96951767"},{"source":"MONDO","code":"0008662","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536352","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888099","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5507","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":716441,"name":"Rare isolated progressive vitreoretinopathy","classifications":[156,189]},{"orpha":519294,"name":"Syndromic microspherophakia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"BEST1","name":"bestrophin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18611979[PMID]_21072067[PMID]","hgnc":"12703","ensembl":"ENSG00000167995","omim":"607854","loci":["11q12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"15452077[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}