{"orpha":99846,"name":"Autosomal dominant myoglobinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99846/","orphanet_url":"https://www.orpha.net/en/disease/detail/99846","names":{"fr":{"name":"Myoglobinurie autosomique dominante","definition":"La myoglobinurie autosomique dominante est une myopathie métabolique rare caractérisée par une myalgie épisodique avec myoglobinurie, induite par une fièvre, une infection virale ou bactérienne, l'exercice prolongée ou l'abus d'alcool, et pouvant à l'occasion, conduire à une insuffisance rénale aigüe. Entre les épisodes, les patients peuvent être asymptomatiques ou présenter des taux élevés de créatine kinase et une légère faiblesse musculaire. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1997."},"de":{"name":"Myoglobinurie, autosomal-dominante","definition":"Eine seltene metabolische Myopathie, die durch eine episodische Myalgie mit Myoglobinurie gekennzeichnet ist, die durch Fieber, virale oder bakterielle Infektionen, anhaltende körperliche Anstrengung oder Alkoholmissbrauch ausgelöst wird und gelegentlich zu akutem Nierenversagen führen kann. Zwischen den Episoden können die Patienten asymptomatisch sein oder erhöhte Kreatinkinasewerte und leichte Muskelschwäche aufweisen. Seit 1997 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Mioglobinuria autosómica dominante","definition":"Es una miopatía metabólica poco frecuente caracterizada por mialgia episódica con mioglobinuria que está inducida por fiebre, infección viral y bacteriana, el ejercicio prolongado o el abuso de alcohol y que, en ocasiones, puede derivar en fallo renal agudo. Entre episodios, los afectados pueden estar asintomáticos o presentar niveles elevados de creatinquinasa y leve debilidad muscular. Desde 1997 no se ha descrito nuevos casos en la literatura."},"it":{"name":"Mioglobinuria dominante","definition":"La mioglobinuria autosomica dominante è una miopatia metabolica rara, caratterizzata da episodi di mialgia e mioglobinuria, scatenati da febbre, infezioni virali o batteriche, esercizio prolungato ed abuso di alcol; raramente esita nell'insufficienza renale acuta. Tra un episodio e l'altro, i pazienti possono essere asintomatici o presentare un aumento dei livelli di creatina chinasi e lieve debolezza muscolare. Non sono stati descritti nuovi casi dopo il 1997."},"nl":{"name":"Autosomaal dominante myoglobinurie","definition":"Een zeldzame metabole myopathie, gekarakteriseerd door episodische myalgie met myoglobinurie die wordt geïnduceerd door koorts, virale of bacteriële infectie, langdurige inspanning of alcoholmisbruik, en die soms kan leiden tot acuut nierfalen. Tussen episodes kunnen patiënten asymptomatisch zijn, of kunnen ze verhoogde gehaltes van creatinekinase en milde spierzwakte vertonen. Sinds 1997 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Mioglobinúria autossómica dominante"},"pl":{"name":"Autosomalna dominująca mioglobinuria"},"cs":{"name":"Autozomálně dominantní myoglobinurie"},"uk":{"name":"Аутосомно-домінантна міоглобінурія","definition":"A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997."},"zh":{"name":"常染色体显性遗传肌红蛋白尿","definition":"常染色体显性肌红蛋白尿症是一种罕见的代谢性肌病，特征是间歇性肌痛伴肌红蛋白尿，由发烧、病毒或细菌感染、长期运动或酗酒引起，有时可导致急性肾功能衰竭。发作间歇期，患者可能没有症状，或可能出现肌酸激酶水平升高和轻度肌肉无力。自1997年以来，文献中没有进一步的描述。"},"tr":{"name":"Otozomal dominant miyoglobinüri"}},"xrefs":[{"source":"OMIM","code":"160010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"R82.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"149859272"},{"source":"MONDO","code":"0008046","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563546","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834567","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206953,"name":"Muscular lipidosis","classifications":[156,181]},{"orpha":91088,"name":"Other metabolic disease","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"9098484[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9098484[PMID]"}],"phenotypes":null}