{"orpha":43115,"name":"Hereditary myopathy with lactic acidosis due to ISCU deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ISCU-related myopathy","Myopathy due to succinate dehydrogenase and aconitase deficiency","Myopathy with exercise intolerance, Swedish type"],"definition":"A rare disorder of energy metabolism characterized clinically by myopathy with severe exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes, succinate dehydrogenase and aconitase.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-43115/","orphanet_url":"https://www.orpha.net/en/disease/detail/43115","names":{"fr":{"name":"Myopathie héréditaire avec acidose lactique par déficit en ISCU","synonyms":["Myopathie associée à ISCU","Myopathie avec intolérance à l'effort type suédois","Myopathie par déficit en succinate déshydrogénase et aconitase"],"definition":"Trouble rare du métabolisme énergétique caractérisé, sur le plan clinique, par une myopathie avec intolérance sévère à l'effort et, sur le plan biochimique, par des déficits en enzymes de la chaîne respiratoire mitochondriale des muscles squelettiques (succinate déshydrogénase et aconitase)."},"de":{"name":"Hereditäre Myopathie mit Laktatazidose durch ISCU-Mangel","synonyms":["Myopathie mit Belastungsintoleranz, Schwedischer Typ","ISCU-Myopathie","Myopathie durch Succinatdehydrogenase- und Aconitase-Mangel"],"definition":"Eine seltene Störung des Energiestoffwechsels, die klinisch durch eine Myopathie mit schwerer Belastungsintoleranz und biochemisch durch einen Mangel an den Enzymen der mitochondrialen Atmungskette der Skelettmuskulatur, Succinatdehydrogenase und Aconitase gekennzeichnet ist."},"es":{"name":"Miopatía hereditaria con acidosis láctica por deficiencia de ISCU","synonyms":["Miopatía asociada a ISCU","Miopatía con intolerancia al ejercicio tipo sueco","Miopatía por deficiencia de succinato deshidrogenasa y aconitasa"],"definition":"Es un trastorno poco frecuente del metabolismo energético caracterizado clínicamente por miopatía con intolerancia grave al ejercicio y bioquímicamente por deficiencias de las enzimas succinato deshidrogenasa, y de la cadena respiratoria mitocondrial del músculo esquelético."},"it":{"name":"Miopatia ereditaria con acidosi lattica da deficit di ISCU","synonyms":["Deficit di aconitasi","Miopatia ISCU","Miopatia con intolleranza all'esercizio, tipo svedese","Miopatia da deficit del cluster ferro-zolfo"]},"nl":{"name":"Hereditaire myopathie met lactaatacidose door ISCU-deficiëntie","synonyms":["Erfelijke myopathie met melkzuuracidose door ISCU-deficiëntie","ISCU-myopathie","Myopathie door deficiëntie van succinaatdehydrogenase en aconitase","Myopathie met inspanningsintolerantie, Zweeds type"],"definition":"Een zeldzame aandoening van het energiemetabolisme, klinisch gekenmerkt door myopathie met ernstige inspanningsintolerantie, en biochemisch gekenmerkt door deficiëntie van enzymen van de mitochondriale ademhalingsketen, succinaatdehydrogenase en aconitase, in skeletspieren."},"pt":{"name":"Miopatia hereditária com acidose lática devida a deficiência de ISCU","synonyms":["Miopatia ISCU-relacionada","Miopatia com intolerância ao exercício, tipo Sueco","Miopatia devido a deficiência de succinato desidrogenase e aconitase"],"definition":"Doença rara do metabolismo energético caracterizado clinicamente por miopatia com intolerância grave ao exercício e bioquimicamente por deficiências de enzimas da cadeia respiratória mitocondrial do músculo esquelético, succinato desidrogenase e aconitase."},"pl":{"name":"Dziedziczna miopatia z kwasicą mleczanową spowodowana niedoborem ISCU","synonyms":["Miopatia ISCU","Miopatia z niedoboru kompleksów jonów żelaza i siarki","Miopatia z nietolerancją wysiłku, typ szwedzki","Niedobór akonitazy"]},"cs":{"name":"Dědičná myopatie s laktátovou acidózou způsobená deficitem ISCU","synonyms":["Deficit akonitasy","ISCU myopatie","Myopatie s deficitem klastru železo-síra","Myopatie s intolerancí cvičení, švédský typ"]},"uk":{"name":"Спадкова міопатія з молочнокислим ацидозом внаслідок дефіциту ISCU","synonyms":["Дефіцит аконітази","Міопатія внаслідок дефіциту залізо-сірчаного кластеру","Міопатія ISCU","Міопатія з непереносимістю фізичних навантажень, шведський тип"],"definition":"A rare disorder of energy metabolism characterized clinically by myopathy with severe exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes, succinate dehydrogenase and aconitase."},"zh":{"name":"ISCU缺乏所致遗传性肌病伴乳酸酸中毒","synonyms":["运动不耐受性肌病瑞典型"]},"tr":{"name":"ISCU eksikliğine bağlı laktik asidoz ile seyreden kalıtsal miyopati","synonyms":["ISCU miyopatisi","Akonitaz eksikliği","Demir-sülfür küme eksikliği miyopatisi","Egzersiz intoleransı olan miyopati, İsveç tipi"]}},"xrefs":[{"source":"OMIM","code":"255125","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"619514265"},{"source":"MONDO","code":"0009706","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564972","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850718","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254843,"name":"Exercise intolerance with lactic acidosis","classifications":[150,156]},{"orpha":98486,"name":"Metabolic myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ISCU","name":"iron-sulfur cluster assembly enzyme","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301757[PMID]","hgnc":"29882","ensembl":"ENSG00000136003","omim":"611911","loci":["12q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"20301757[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301757[PMID]"}],"phenotypes":null}