{"orpha":708133,"name":"Autosomal dominant ACTN2-related distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708133/","orphanet_url":"https://www.orpha.net/en/disease/detail/708133","names":{"fr":{"name":"Myopathie distale autosomique dominante associée à ACTN2"},"de":{"name":"Distale Myopathie, ACTN2-assoziierte, autosomal-dominante"},"es":{"name":"Miopatía distal asociada a ACTN2 autosómica dominante"},"it":{"name":"Miopatia distale autosomica dominante correlata ad ACTN2"},"nl":{"name":"Autosomaal dominante ACTN2-gerelateerde distale myopathie"},"pt":{"name":"Autosomal dominant ACTN2-related distal myopathy"},"pl":{"name":"Miopatia dystalna związana z ACTN2 o dziedziczeniu autosomalnym dominującym"},"cs":{"name":"Autosomal dominant ACTN2-related distal myopathy"}},"xrefs":[{"source":"OMIM","code":"618655","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206650,"name":"Autosomal dominant distal myopathy","classifications":[156,181]},{"orpha":593,"name":"Myofibrillar myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACTN2","name":"actinin alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34386585[PMID]_30900782[PMID]","hgnc":"164","ensembl":"ENSG00000077522","omim":"102573","loci":["1q43"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}