{"orpha":81,"name":"Antisynthetase syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AS syndrome","ASS","ASyS","Anti-ARS syndrome","Anti-Jo1 syndrome","Anti-aminoacyl-tRNA synthetase syndrome"],"definition":"A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-81/","orphanet_url":"https://www.orpha.net/en/disease/detail/81","names":{"fr":{"name":"Syndrome des antisynthétases","synonyms":["Syndrome anti-Jo1"],"definition":"Myopathie inflammatoire idiopathique (MII) rare, caractérisée essentiellement par une myosite, une arthrite généralement symétrique et une pneumopathie interstitielle (PI) en association avec la présence d'autoanticorps dirigés contre les aminoacyls-ARNt synthétases (anti-ARS). Parmi les caractéristiques plus inconstantes, on peut citer : l'arthralgie, le phénomène de Raynaud, l'éruption héliotrope, la dysmotilité distale de l'oesophage et les mains de mécanicien."},"de":{"name":"Anti-Synthetase-Syndrom","synonyms":["AS-Syndrom","ASS","ASyS","Anti-ARS-Syndrom","Anti-Aminoacyl-tRNA-Synthetase-Syndrom","Anti-Jo-1-Syndrom"],"definition":"Eine seltene idiopathische entzündliche Myopathie (IIM), die hauptsächlich durch Myositis, allgemein symmetrische Arthritis und interstitielle Lungenerkrankung (ILD) in Verbindung mit Serum-Autoantikörpern gegen Aminoacyl-Transfer-RNA-Synthetasen (Anti-ARS) gekennzeichnet ist. Zu den variableren Merkmalen gehören Arthralgie, Raynaud-Phänomen, heliotropher Hautausschlag, distale Ösophagusdysmotilität und 'Mechaniker-Hände'."},"es":{"name":"Síndrome antisintetasa","synonyms":["Síndrome AS","Síndrome anti-ARS","Síndrome anti-Jo1","Síndrome anti-aminoacil-ARNt sintetasa"],"definition":"Es una miopatía inflamatoria idiopática (MII) poco frecuente caracterizada principalmente por miositis, artritis típicamente simétrica y enfermedad pulmonar intersticial (EPI) asociada a autoanticuerpos séricos anti-aminoacil-ARNt sintetasas (anti-ARS). Otros hallazgos variables son artralgia, fenómeno de Raynaud, erupción heliotrópica, dismotilidad esofágica distal y ''manos de mecánico''."},"it":{"name":"Sindrome da antisintetasi","synonyms":["AAS","ASyS","Sindrome AS","Sindrome anti-ARS","Sindrome anti-Jo1","Sindrome anti-aminoacil-tRNA sintetasi"],"definition":"Si tratta di una miopatia infiammatoria idiopatica (IIM) rara, caratterizzata principalmente da miosite, artrite in genere simmetrica e pneumopatia interstiziale (ILD), con autoanticorpi diretti contro le aminoacil-transfer RNA sintetasi (anti-ARS) nel siero. Altri segni clinici più variabili sono l'artralgia, il fenomeno di Raynaud, l'eruzione eliotropica, la dismotilità esofagea distale e le mani ''da meccanico''."},"nl":{"name":"Antisynthetasesyndroom","synonyms":["Anti-ARS-syndroom","Anti-Jo1-syndroom","Anti-aminoacyl-tRNA-synthetasesyndroom","AS-syndroom","ASS","ASyS"],"definition":"Een zeldzame idiopathische inflammatoire myopathie (IIM), gekenmerkt door hoofdzakelijk myositis, doorgaans symmetrische artritis en interstitiële longziekte (ILD), in associatie met auto-antilichamen tegen aminoacyl-transfer RNA-synthetases (anti-ARS) in serum. Meer variabele kenmerken zijn onder meer artralgie, fenomeen van Raynaud, heliotrope huiduitslag, motiliteitsstoornis van distale oesofagus, en monteurshanden."},"pt":{"name":"Síndrome anti-sintetase","definition":"Uma miopatia inflamatória idiopática (MII) rara, caracterizada principalmente por miosite, artrite geralmente simétrica e doença pulmonar intersticial (DPI) associada a autoanticorpos séricos contra aminoacil-tRNA sintetases (anti-ARS). Características mais variáveis incluem artralgia, fenómeno de Raynaud, erupção heliotrófica, dismotilidade esofágica distal e mãos de mecânico."},"pl":{"name":"Zespół antysyntetazowy","synonyms":["AS syndrome","ASS","ASyS","Anti-ARS syndrome","Anti-Jo1 syndrome","Anti-aminoacyl-tRNA synthetase syndrome"]},"cs":{"name":"Antisyntetázový syndrom","synonyms":["AS syndrom","Anti-Jo1 syndrom"]},"uk":{"name":"Антисинтетазний синдром","synonyms":["Синдром анти-Jo1","Синдром AS"],"definition":"A rare idiopathic inflammatory myopathy (IIM) characterized principally by myositis, generally symmetrical arthritis and interstitial lung disease (ILD) in association with serum autoantibodies to aminoacyl-transfer RNA synthetases (anti-ARS). More variable features include arthralgia, Raynaud phenomenon, heliotrophic rash, distal esophageal dysmotility and mechanic's hands."},"zh":{"name":"抗合成酶综合征","synonyms":["抗Jo1综合症"]},"tr":{"name":"Antisentaz sendromu","synonyms":["AS sendromu","Anti-Jo1 sendromu"]}},"xrefs":[{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1572057936"},{"source":"MONDO","code":"0019344","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537778","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2609059","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"735","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10068801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98482,"name":"Idiopathic inflammatory myopathy","classifications":[181,196]},{"orpha":264745,"name":"Secondary interstitial lung disease specific to adulthood associated with a systemic disease","classifications":[184,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-28","source":"32284267[PMID]_35382516[PMID]_36186825[PMID]_37516893[PMID]","terms":[{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100614","label":"Myositis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0034145","label":"Anti-alanyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034147","label":"Anti-aminoacyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034151","label":"Anti-asparaginyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034153","label":"Anti-cytosolic-5-nucleotidase-1A antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034146","label":"Anti-glycyl tRNA-synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034152","label":"Anti-histidyl tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034148","label":"Anti-isoleucyl tRNA-synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034149","label":"Anti-phenylalanyl tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034143","label":"Anti-threonyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034150","label":"Anti-tyrosyl-tRNA synthetase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6001014","label":"Hiker's feet","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6001013","label":"Mechanic's hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100585","label":"Telangiectasia of the skin","frequency":"Occasional (29-5%)","criteria":null}]}}