{"orpha":444092,"name":"Autoimmune interstitial lung disease-arthritis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["COPA syndrome"],"definition":"A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-444092/","orphanet_url":"https://www.orpha.net/en/disease/detail/444092","names":{"fr":{"name":"Syndrome autoimmun de pneumopathie interstitielle-arthrite","synonyms":["Syndrome du COPA"],"definition":"Maladie systémique ou rhumatologique rare caractérisée par une pneumopathie interstitielle (souvent accompagnée d'une hémorragie pulmonaire) et une arthrite inflammatoire, associée à des auto-anticorps à titre élevé (notamment des anticorps antinucléaires, antineutrophiles cytoplasmiques, et le facteur rhumatoïde). Les patients manifestent, de l'enfance à l'adolescence, une tachypnée, une toux, une hémoptysie et/ou des douleurs articulaires. Certains patients peuvent également développer une maladie glomérulaire."},"de":{"name":"Autoimmune interstitielle Lungenkrankheit-Arthritis-Syndrom","synonyms":["COPA-Syndrom"],"definition":"Eine seltene genetisch bedingte systemische oder rheumatologische Erkrankung, die durch eine interstitielle Lungenerkrankung (oft mit Lungenblutungen) und entzündliche Arthritis gekennzeichnet ist und mit hochtitrigen Autoantikörpern (einschließlich anti-nuklearer und anti-neutrophiler zytoplasmatischer Antikörper und Rheumafaktor) einhergeht. Die Krankheit manifestiert sich vom Säuglings- bis zum Jugendalter mit Tachypnoe, Husten, Hämoptoe und/oder Gelenkschmerzen. Einige Patienten können auch eine glomeruläre Erkrankung entwickeln."},"es":{"name":"Síndrome de enfermedad pulmonar intersticial autoinmune-artritis","synonyms":["Síndrome COPA"],"definition":"Es una enfermedad sistémica o reumatológica genética y poco frecuente caracterizada por enfermedad pulmonar intersticial (a menudo con hemorragia pulmonar) y artritis inflamatoria, asociada a títulos elevados de autoanticuerpos (incluyendo los anticuerpos anticitoplasma de neutrófilo y antinucleares y el factor reumatoide). La enfermedad debuta entre el periodo de lactancia y la adolescencia con taquipnea, tos, hemoptisis y/o dolor articular. Algunos pacientes también pueden desarrollar enfermedad glomerular."},"it":{"name":"Sindrome autoimmune malattia polmonare interstiziale-artrite","synonyms":["Difetto di COPA"],"definition":"Si tratta di una malattia sistemica o reumatica genetica rara, caratterizzata da pneumopatia interstiziale (spesso con emorragia polmonare) e artrite infiammatoria, associata ad autoanticorpi a titolo elevato (anticorpi citoplasmatici antinucleari e antineutrofili e fattore reumatoide). Tra il periodo neonatale e l'adolescenza, i pazienti presentano tachipnea, tosse, emottisi e/o dolore articolare. Alcuni pazienti sviluppano una malattia glomerulare."},"nl":{"name":"Auto-immune interstitiële longziekte - artritis-syndroom","synonyms":["COPA-syndroom"],"definition":"Een zeldzame, genetische systemische of reumatologische aandoening, gekarakteriseerd door interstitiële longziekte (vaak met pulmonale hemorragie) en inflammatoire artritis, geassocieerd met hoge titer van auto-antilichamen (waaronder antinucleaire en antineutrofiele cytoplasmatische antilichamen, en reumafactor). Patiënten presenteren zich vanaf de zuigelingentijd tot de adolescentie met tachypneu, hoest, hemoptoë, en/of gewrichtspijn. Sommige patiënten ontwikkelen mogelijk ook glomerulaire aandoening."},"pt":{"name":"Síndrome de doença pulmonar intersticial autoimune-artrite"},"pl":{"name":"Zespół autoimmunologicznej śródmiąższowej choroby płuc i zapalenia stawów","synonyms":["COPA syndrome"]},"cs":{"name":"Syndrom zahrnující autoimunitní intersticiální plicní chorobu a artritidu","synonyms":["COPA defekt"]},"uk":{"name":"Синдром аутоімунного інтерстиціального захворювання легень-артриту","synonyms":["Синдром COPA"],"definition":"A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease."},"zh":{"name":"自身免疫性间质性肺病-关节炎综合征","synonyms":["COPA综合征"],"definition":"一种罕见的遗传性系统性或风湿性疾病，其特征是间质性肺病（常伴有肺出血）和炎症性关节炎，伴有高滴度的自身抗体（包括抗核抗体，抗中性粒细胞胞浆抗体和类风湿因子）。患者从婴儿期到青春期出现呼吸急促，咳嗽，咯血和/或关节痛。一些患者也可能发展为肾小球疾病。"},"tr":{"name":"Otoimmün interstisyel akciğer hastalığı-artrit sendromu","synonyms":["COPA sendromu"]}},"xrefs":[{"source":"OMIM","code":"616414","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M35.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB05.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014629","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5243948","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083948","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":264992,"name":"Genetic interstitial lung disease","classifications":[156]},{"orpha":567556,"name":"Genetic systemic disease with glomerulopathy as a major feature","classifications":[156,188,233]},{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":280373,"name":"Rare pediatric systemic disease","classifications":[231]},{"orpha":264699,"name":"Secondary interstitial lung disease specific to childhood associated with a systemic disease","classifications":[184,233]},{"orpha":182228,"name":"Systemic autoimmune disease","classifications":[196]}],"children":[],"genes":[{"symbol":"COPA","name":"coat protein complex I subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25894502[PMID]","hgnc":"2230","ensembl":"ENSG00000122218","omim":"601924","loci":["1q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25894502[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25894502[PMID]"}],"phenotypes":null}