{"orpha":206572,"name":"Overlap myositis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult-onset overlap myositis","Non-specific myositis"],"definition":"A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206572/","orphanet_url":"https://www.orpha.net/en/disease/detail/206572","names":{"fr":{"name":"Myosite de chevauchement","synonyms":["Myosite de chevauchement de l'adulte","Myosite non spécifique"],"definition":"Myopathie inflammatoire idiopathique (MII) rare dont le phénotype est hétérogène, caractérisée par une myosite associée à un ou plusieurs signes cliniques et/ou auto-anticorps spécifiques d'un syndrome de chevauchement. La myosite est associée à un ou plusieurs signes cliniques présents dans d'autres maladies parmi lesquelles la polyarthrite, le syndrome de Raynaud, la sclérodactylie, la sclérodermie (proximale jusqu'aux articulations interphalangiennes), la pneumonie interstitielle pulmonaire et/ou les signes cliniques du lupus érythémateux disséminé (LED)."},"de":{"name":"Overlap-Myositis","synonyms":["Myositis, unspezifische","Myositis-Überlappungssyndrom mit Beginn im Erwachsenenalter"],"definition":"Eine seltene idiopathische entzündliche Myopathie (IIM) mit einem heterogenen Phänotyp, der durch Myositis mit mindestens einem klinischen und/oder Autoantikörper-Überlappungsmerkmal gekennzeichnet ist. Zu den möglichen klinischen Überlappungsmerkmalen gehören Polyarthritis, Raynaud-Phänomen, Sklerodaktylie, Sklerodermie (proximal der Metakarpophalangealgelenke), interstitielle Lungenpneumonie und/oder klinische Anzeichen eines systemischen Lupus erythematodes (SLE)."},"es":{"name":"Miositis de solapamiento","synonyms":["Miositis de solapamiento de inicio en el adulto","Miositis no específica"],"definition":"Es una miopatía inflamatoria idiopática (MII) poco frecuente con un fenotipo heterogéneo caracterizado por miositis con al menos un rasgo solapante clínico y/o de autoanticuerpos. Las posibles características clínicas solapantes incluyen la poliartritis, el fenómeno de Raynaud, la esclerodactilia, la esclerodermia (proximal a las articulaciones metacarpofalángicas), la neumonía pulmonar intersticial y/o los signos clínicos de lupus eritematoso sistémico (LES)."},"it":{"name":"Miosite da sovrapposizione","synonyms":["Miosite da sovrapposizione a esordio nell'età adulta"],"definition":"Si tratta di una miopatia infiammatoria idiopatica (IIM) rara, con un fenotipo eterogeneo caratterizzato da miosite associata ad almeno un segno clinico e/o auto-anticorpi presenti in una malattia sovrapponibile. I possibili segni clinici sovrapponibili comprendono la poliartrite, il fenomeno di Raynaud, la sclerodattilia, la sclerodermia (prossimale fino alle articolazioni metacarpo-falangee), la polmonite interstiziale e/o i segni clinici del lupus eritematoso sistemico (LES)."},"nl":{"name":"Overlapmyositis","synonyms":["Niet-specifieke myositis","Overlapmyositis met aanvang op volwassen leeftijd"],"definition":"Een zeldzame idiopathische inflammatoire myopathie (IIM) met een heterogeen fenotype, gekenmerkt door myositis met minstens één klinisch en/of auto-antilichaam overlap-kenmerk. Mogelijke klinische overlap-kenmerken zijn onder meer polyartritis, fenomeen van Raynaud, sclerodactylie, sclerodermie (proximaal aan de metacarpofalangeale gewrichten), interstitiële pneumonie, en/of klinische verschijnselen van systemische lupus erythematosus (SLE)."},"pt":{"name":"Miosite de sobreposição"},"pl":{"name":"Zapalenie mięśni typu \"overlap","synonyms":["Niespecyficzne zapalenie mięśni","Zapalenie mięśni typu \"overlap\" o początku w wieku dorosłym"]},"cs":{"name":"Překryvná myozitida","synonyms":["Překryvná myozitida s počátkem v dospělosti"]},"uk":{"name":"Overlap-міозит","synonyms":["Накладання міозиту у дорослих","Неспецифічний міозит"],"definition":"A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE)."},"zh":{"name":"重叠肌炎","synonyms":["成人起病重叠肌炎"],"definition":"重叠性肌炎（OM）是一种特发性炎症性肌病（IIM），其主要临床表现为肌炎至少伴有一种与临床和/或自身抗体重叠的特征。"},"tr":{"name":"Örtüşen miyozit","synonyms":["Spesifik olmayan miyozit","Erişkin başlangıçlı örtüşen miyozit"]}},"xrefs":[{"source":"ICD-10","code":"M33.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016099","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679784","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98482,"name":"Idiopathic inflammatory myopathy","classifications":[181,196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-02","source":"29865091[PMID]_33458584[PMID]_30968571[PMID]","terms":[{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034088","label":"Anti-Ku antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033560","label":"Anti-PM-Scl antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033555","label":"Anti-Ro/SS-A antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034093","label":"Anti-Ro52/TRIM21 antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033040","label":"Anti-Sm antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030859","label":"Anti-topoisomerase I antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025142","label":"Constitutional symptom","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025131","label":"Finger swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100296","label":"Perifascicular muscle fiber atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008997","label":"Proximal muscle weakness in upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011838","label":"Sclerodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011121","label":"Abnormal skin morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003549","label":"Abnormality of connective tissue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003551","label":"Difficulty climbing stairs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009763","label":"Limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100324","label":"Scleroderma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004269","label":"Subluxation of the small joints of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Very rare (<4-1%)","criteria":null}]}}