{"orpha":898,"name":"Wagner disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dominant hyaloideoretinal dystrophy of Wagner","VCAN-related vitreoretinopathy","Vitreoretinal degeneration, Wagner type","Wagner syndrome"],"definition":"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-898/","orphanet_url":"https://www.orpha.net/en/disease/detail/898","names":{"fr":{"name":"Maladie de Wagner","synonyms":["Dystrophie hyaloïdéo-rétinienne dominante de Wagner","Dégénérescence vitréo-rétinienne de Wagner","Syndrome de Wagner","Vitréo-rétinopathie liée à VCAN"],"definition":"La maladie de Wagner est une vitréorétinopathie héréditaire rare qui se caractérise par des anomalies du vitré associées à une myopie, une cataracte, une atrophie chorio-rétinienne et un décollement rétinien tractionnel périphérique ou rhegmatogène."},"de":{"name":"Wagner-Krankheit","synonyms":["Degeneration, vitreoretinale, Typ Wagner","Vitreoretinopathie, VCAN-abhängige","Wagner-Syndrom"],"definition":"Die Wagner-Krankheit ist eine seltene erbliche Vitreoretinopathie, die durch einen anomalen Glaskörper in Verbindung mit Kurzsichtigkeit, Katarakt, chorioretinaler Atrophie und peripherer traktiver oder rhegmatogener Netzhautablösung gekennzeichnet ist."},"es":{"name":"Enfermedad de Wagner","synonyms":["Degeneración vitreorretiniana de Wagner","Distrofia dominante hialoideo-retiniana de Wagner","Síndrome de Wagner","Vitreorretinopatía asociada a VCAN"],"definition":"Es una vitreorretinopatía hereditaria poco frecuente caracterizada por un vítreo anómalo asociado a miopía, cataratas, atrofia coriorretiniana y desprendimiento de retina periférico traccional o regmatógeno."},"it":{"name":"Malattia di Wagner","synonyms":["Degenerazione vitreoretinica di Wagner","Distrofia ialoidoretinica di Wagner","Sindrome di Wagner","Vitreoretinopatia legata a VCAN"]},"nl":{"name":"Ziekte van Wagner","synonyms":["Dominante hyaloïdeoretinale dystrofie van Wagner","Syndroom van Wagner","VCAN-gerelateerde vitreoretinopathie","Vitreoretinale degeneratie, Wagner-type"],"definition":"Een zeldzame hereditaire vitreoretinopathie, gekenmerkt door een afwijkend corpus vitreum geassocieerd met myopie, cataract, chorioretinale atrofie, en perifere tractionele of regmatogene netvliesloslating."},"pt":{"name":"Doença de Wagner","synonyms":["Degenerescência vitreo-retiniana"]},"pl":{"name":"Choroba Wagnera","synonyms":["Witreoretinopatia związana z VCAN","Zespół Wagnera","Zwyrodnienie ciała szklistego i siatkówki, typ Wagnera"]},"cs":{"name":"Wagnerova choroba","synonyms":["Wagnerova dominantní hyaloideoretinální dystrofie","VCAN-vázaná vitreoretinopatie","Vitreoretinální degenerace, Wagnerův typ","Wagnerův syndrom"]},"uk":{"name":"Хвороба Вагнера","synonyms":["Домінантна гіалоідеоретинальна дистрофія Вагнера","Вітреоретинопатія, повязана з VCAN","Вітреоретинальна дегенерація, тип Вагнера","Синдром Вагнера"],"definition":"Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment."},"zh":{"name":"Wagner病","synonyms":["Wagner显性遗传玻璃体视网膜营养不良"]},"tr":{"name":"Wagner hastalığı","synonyms":["Wagner sendromu","VCAN-ilişkili vitreoretinopati","Vitreoretinal dejenerasyon, Wagner tipi","Wagner dominant hyaloideoretinal distrofisi"]}},"xrefs":[{"source":"OMIM","code":"143200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B80","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"780893571"},{"source":"MONDO","code":"0007740","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536075","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840452","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7871","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10063383","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":716441,"name":"Rare isolated progressive vitreoretinopathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"VCAN","name":"versican","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301747[PMID]","hgnc":"2464","ensembl":"ENSG00000038427","omim":"118661","loci":["5q14.2-q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"32818279[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"39336769[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-07-04","source":"32854301[PMID]_29071374[PMID]_29071374[PMID]","terms":[{"hpo":"HP:0030466","label":"Abnormal full-field electroretinogram","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030663","label":"Optically empty vitreous","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007819","label":"Presenile cataracts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025007","label":"Ectopic fovea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012122","label":"Anterior uveitis","frequency":"Very rare (<4-1%)","criteria":null}]}}