{"orpha":99845,"name":"Genetic recurrent myoglobinuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99845/","orphanet_url":"https://www.orpha.net/en/disease/detail/99845","names":{"fr":{"name":"Myoglobinurie récurrente génétique","definition":"La myoglobinurie récurrente génétique est une erreur innée du métabolisme caractérisée par une excrétion urinaire anormale de myoglobine due à une destruction aiguë des fibres musculaires squelettiques."},"de":{"name":"Myoglobinurie, rekurrente, genetisch bedingte","definition":"Die Genetische rezidivierende Myoglobinurie ist ein angeborener Stoffwechseldefekt mit abnormer Ausscheidung von Myoglobin im Urin im Gefolge einer akuten Destruktion von Muskelfasern."},"es":{"name":"Mioglobinuria recurrente genética","definition":"La mioglobinuria recurrente genética es un error innato del metabolismo, caracterizado por una excreción urinaria de mioglobina anormal, ocasionada por una destrucción aguda de las fibras del músculo esquelético."},"it":{"name":"Mioglobinuria ricorrente"},"nl":{"name":"Genetische recidiverende myoglobinurie","definition":"Genetische recidiverende myoglobinurie is een aangeboren defect van stofwisseling, gekenmerkt door abnormale excretie van myoglobine in urine door acute destructie van skeletspiervezels."},"pt":{"name":"Mioglobinúria recorrente"},"pl":{"name":"Genetyczna nawracająca mioglobinuria"},"cs":{"name":"Geneticky podmíněná rekurentní myoglobinurie"},"uk":{"name":"Генетично обумовлена рецидивуюча міоглобінурія","definition":"Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers."},"zh":{"name":"遗传性复发肌红蛋白尿","definition":"遗传性复发性肌红蛋白尿症是一种先天代谢异常，其特征是由于骨骼肌纤维的急性破坏而导致尿中肌红蛋白的异常排泄。"},"tr":{"name":"Genetik tekrarlayan miyoglobinüri"}},"xrefs":[{"source":"OMIM","code":"268200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"550500","qualifier":"BTNT","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":"694361225"},{"source":"MONDO","code":"0020504","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274324","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":352312,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement","classifications":[150,156]},{"orpha":206953,"name":"Muscular lipidosis","classifications":[156,181]},{"orpha":91088,"name":"Other metabolic disease","classifications":[150,156]}],"children":[],"genes":[{"symbol":"LPIN1","name":"lipin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"13345","ensembl":"ENSG00000134324","omim":"605518","loci":["2p25.1"]},{"symbol":"MT-CO1","name":"mitochondrially encoded cytochrome c oxidase I","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7419","ensembl":"ENSG00000198804","omim":"516030","loci":["mitochondria"]},{"symbol":"MT-CO3","name":"mitochondrially encoded cytochrome c oxidase III","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7422","ensembl":"ENSG00000198938","omim":"516050","loci":["mitochondria"]},{"symbol":"OBSCN","name":"obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34957489[PMID]","hgnc":"15719","ensembl":"ENSG00000154358","omim":"608616","loci":["1q42.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-27","source":"26909335[PMID]_32129275[PMID]_24946698[PMID]","terms":[{"hpo":"HP:0003652","label":"Recurrent myoglobinuria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0040319","label":"Dark urine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030234","label":"Highly elevated creatine kinase","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010969","label":"Abnormality of glycolipid metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012544","label":"Elevated circulating aldolase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003738","label":"Exercise-induced myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008305","label":"Exercise-induced myoglobinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003554","label":"Type 2 muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003558","label":"Viral infection-induced rhabdomyolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045037","label":"Abnormality of jaw muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030195","label":"Fatigable weakness of swallowing muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100520","label":"Oliguria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005521","label":"Disseminated intravascular coagulation","frequency":"Very rare (<4-1%)","criteria":null}]}}