{"orpha":696063,"name":"PLIN4-related distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MRUPAV","Myopathy with rimmed ubiquitin-positive autophagic vacuolation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696063/","orphanet_url":"https://www.orpha.net/en/disease/detail/696063","names":{"fr":{"name":"Myopathie distale associée à PLIN4"},"de":{"name":"Myopathie, distale, PLIN4-assoziierte","synonyms":["MRUPAV","Myopathie mit geränderten Ubiquitin-positiven autophagischen Vakuolisierungen"]},"es":{"name":"Miopatía distal asociada al gen PLIN4","synonyms":["MRUPAV","Miopatía con vacuolas autofágicas ribeteadas ubiquitina-positivas","Miopatía con vacuolas ribeteadas autofágicas ubiquitina-positivas"]},"it":{"name":"Miopatia distale correlata a PLIN4","synonyms":["MRUPAV","Miopatia con vacuolizzazione autofagica cerchiata positiva per l'ubiquitina"]},"nl":{"name":"PLIN4-gerelateerde distale myopathie","synonyms":["MRUPAV","Myopathie met omrande ubiquitinepositieve autofagische vacuolisatie"]},"pt":{"name":"PLIN4-related myopathy"},"pl":{"name":"PLIN4-related distal myopathy","synonyms":["MRUPAV","Myopathy with rimmed ubiquitin-positive autophagic vacuolation"]},"cs":{"name":"PLIN4-related distal myopathy","synonyms":["MRUPAV","Myopathy with rimmed ubiquitin-positive autophagic vacuolation"]}},"xrefs":[{"source":"OMIM","code":"601846","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PLIN4","name":"perilipin 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35499779[PMID]","hgnc":"29393","ensembl":"ENSG00000167676","omim":"613247","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":40.0,"area":"Worldwide","status":"Validated","source":"35499779[PMID]_37145156[PMID]_15236412[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"35499779[PMID]_37145156[PMID]_15236412[PMID]_ORPHANET"}],"phenotypes":null}