{"orpha":700154,"name":"TARDBP-related predominantly upper-limb distal myopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700154/","orphanet_url":"https://www.orpha.net/en/disease/detail/700154","names":{"fr":{"name":"Myopathie distale prédominante des membres supérieurs associée à TARDBP"},"de":{"name":"Spät-beginnende distale Myopathie, TARDBP-assoziierte"},"es":{"name":"Miopatía distal predominantemente de miembros superiores asociada a TARDBP"},"it":{"name":"Miopatia distale a predominanza negli arti superiori correlata a TARDBP"},"nl":{"name":"TARDBP-gerelateerde distale myopathie van hoofdzakelijk bovenste ledematen"},"pt":{"name":"TARDBP-related predominantly upper-limb distal myopathy"},"pl":{"name":"TARDBP-related predominantly upper-limb distal myopathy"},"cs":{"name":"TARDBP-related predominantly upper-limb distal myopathy"}},"xrefs":[{"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]}],"children":[],"genes":[{"symbol":"TARDBP","name":"TAR DNA binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38079474[PMID]","hgnc":"11571","ensembl":"ENSG00000120948","omim":"605078","loci":["1p36.22"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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}