{"orpha":98619,"name":"Rare isolated myopia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98619/","orphanet_url":"https://www.orpha.net/en/disease/detail/98619","names":{"fr":{"name":"Myopie isolée rare","definition":"Anomalie génétique rare de la réfraction caractérisée par une myopie sévère non syndromique, pouvant être associée à une cataracte et à une dégénérescence vitréorétinienne (décollement de la rétine) pouvant conduire à la cécité."},"de":{"name":"Myopie, isolierte, seltene"},"es":{"name":"Miopía aislada rara","definition":"La miopía aislada poco frecuente es un trastorno por anomalía de la refracción, genético y poco frecuente, caracterizado por miopía grave no sindrómica, que puede estar asociada a cataratas y degeneración vitreorretiniana (desprendimiento de retina), lo que puede conducir a ceguera."},"it":{"name":"Miopia isolata rara","definition":"La miopia isolata rara è un'anomalia genetica rara della rifrazione, caratterizzata da miopia grave non sindromica, che può associarsi a cataratta e degenerazione vitreoretinica (distacco della retina), con conseguente cecità."},"nl":{"name":"Zeldzame geïsoleerde myopie","definition":"Zeldzame geïsoleerde myopie is een zeldzame, genetische refractie-anomalie, en wordt gekarakteriseerd door niet-syndromale, ernstige myopie die kan geassocieerd zijn met cataract en vitreoretinale degeneratie (netvliesloslating), mogelijk met blindheid tot gevolg."},"pt":{"name":"Miopia isolada rara"},"pl":{"name":"Rzadka izolowana krótkowzroczność","definition":"*Rzadka izolowana krótkowzroczność jest rzadką, genetycznie uwarunkowaną wadą refrakcji, która charakteryzuje się izolowaną, ciężką krótkowzrocznością, która może być związana z zaćmą i zwyrodnieniem ciałka szklistego i siatkówki (odwarstwieniem siatkówki) i która może prowadzić do całkowitej utraty wzroku."},"cs":{"name":"Vzácná izolovaná myopie"},"uk":{"name":"Рідкісна ізольована короткозорість","definition":"Rare isolated myopia is a rare, genetic, refraction anomaly disorder characterized by non-syndromic severe myopia, which may be associated with cataract and vitreoretinal degeneration (retinal detachment) that may lead to blindness."},"zh":{"name":"罕见单纯性近视","definition":"罕见孤立性近视是一种罕见的遗传性屈光异常疾病，以非综合征性重度近视为特征，可能与白内障和能导致失明的玻璃体视网膜变性(视网膜脱离)相关。"},"tr":{"name":"Nadir izole miyopi"}},"xrefs":[{"source":"OMIM","code":"608908","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614292","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615431","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615946","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H52.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9D00.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0020207","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751232","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98618,"name":"Rare refraction anomaly","classifications":[156,189]}],"children":[],"genes":[{"symbol":"LRPAP1","name":"LDL receptor related protein associated protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23830514[PMID]","hgnc":"6701","ensembl":"ENSG00000163956","omim":"104225","loci":["4p16.3"]},{"symbol":"P3H2","name":"prolyl 3-hydroxylase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21885030[PMID]","hgnc":"19317","ensembl":"ENSG00000090530","omim":"610341","loci":["3q28"]},{"symbol":"SCO2","name":"synthesis of cytochrome C oxidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23643385[PMID]","hgnc":"10604","ensembl":"ENSG00000284194","omim":"604272","loci":["22q13.33"]},{"symbol":"SLC39A5","name":"solute carrier family 39 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24891338[PMID]","hgnc":"20502","ensembl":"ENSG00000139540","omim":"608730","loci":["12q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}