{"orpha":88635,"name":"Vacuolar myopathy with sarcoplasmic reticulum protein aggregates","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Myopathy due to calsequestrin and SERCA1 protein overload","Vacuolar aggregate myopathy"],"definition":"A rare, genetic vacuolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88635/","orphanet_url":"https://www.orpha.net/en/disease/detail/88635","names":{"fr":{"name":"Myopathie vacuolaire avec agrégation de protéines du réticulum sarcoplasmique","synonyms":["Myopathie avec agrégats de calséquestrine","Myopathie due à une surcharge en calséquestrine et SERCA1"],"definition":"Myopathie due à une surcharge en calséquestrine et SERCA1 se caractérise par des signes modérés de myopathie ou par un taux sanguin élevé en créatine kinase sans symptôme associé."},"de":{"name":"Vakuoläre Myopathie mit Proteinaggregaten des sarkoplasmatischen Retikulums","synonyms":["Myopathie durch Calsequestrin- und SERCA1-Protein-Overload","Myopathie mit vakuolären Aggregaten"],"definition":"Eine seltene, genetisch bedingte vakuoläre Myopathie, die sich durch eine leichte Myopathie oder erhöhte Kreatinkinase-Werte im Blut ohne entsprechende Symptome auszeichnet."},"es":{"name":"Miopatía vacuolar con agregación de proteínas del retículo sarcoplásmico","synonyms":["Miopatía por exceso de calsecuestrina y proteína SERCA1","Miopatía vacuolar con agregados"],"definition":"Es una miopatía vacuolar de origen genético y poco frecuente caracterizada por miopatía leve o por niveles elevados de creatinquinasa en sangre sin síntomas asociados."},"it":{"name":"Miopatia da sovraccarico di calsequestrina e proteina SERCA1"},"nl":{"name":"Vacuolaire myopathie met proteïneaggregaten van sarcoplasmatisch reticulum","synonyms":["Myopathie door overschot aan calsequestrine en SERCA1-proteïne","Myopathie met vacuolaire aggregaten"],"definition":"Een zeldzame, genetische vacuolaire myopathie, gekarakteriseerd door milde myopathie of verhoogde gehaltes van creatinekinase in bloed zonder geassocieerde symptomen."},"pt":{"name":"Miopatia por sobrecarga das proteínas calsequestrina e SERCA1"},"pl":{"name":"Miopatia z obecnością wakuoli i agregatami białek siateczki sarkoplazmatycznej","synonyms":["Myopathy due to calsequestrin and SERCA1 protein overload","Vacuolar aggregate myopathy"]},"cs":{"name":"Myopatie způsobená přetížením kalsekvestrinem a SERCA1 proteinem","synonyms":["Myopathy due to calsequestrin and SERCA1 protein overload","Vacuolar aggregate myopathy"]},"uk":{"name":"Вакуолярна міопатія з агрегатами протеїнів саркоплазматичного ретикулуму","synonyms":["Міопатія, спричинена перевантаженням кальцестрину та білка SERCA1","Вакуолярна агрегатна міопатія"],"definition":"A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms."},"zh":{"name":"空泡性肌病伴肌浆网蛋白聚集","synonyms":["肌集钙蛋白和SERCA1蛋白超载所致肌病"]},"tr":{"name":"Sarkoplazmik retikulum protein agregalı vakuolar miyopati","synonyms":["Vakuolar agregat miyopati","Calsequestrin ve SERCA1 protein aşırı yüklenmesine bağlı miyopati"]}},"xrefs":[{"source":"OMIM","code":"616231","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"177135123"},{"source":"MONDO","code":"0014546","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"14546","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510368","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206634,"name":"Genetic skeletal muscle disease","classifications":[156,181]},{"orpha":209199,"name":"Qualitative or quantitative defects of protein SERCA1","classifications":[156]}],"children":[],"genes":[{"symbol":"CASQ1","name":"calsequestrin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25116801[PMID]","hgnc":"1512","ensembl":"ENSG00000143318","omim":"114250","loci":["1q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Unknown"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"16714317[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16714317[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null}]}}