{"orpha":85410,"name":"Oligoarticular juvenile idiopathic arthritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Oligoarticular JIA","Pauciarticular chronic arthritis"],"definition":"A rare inflammatory rheumatic disease characterized by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85410/","orphanet_url":"https://www.orpha.net/en/disease/detail/85410","names":{"fr":{"name":"Arthrite juvénile idiopathique oligoarticulaire","synonyms":["AJI oligoarticulaire","Arthrite chronique pauci-articulaire","Oligoarthrite juvénile"],"definition":"Maladie rhumatismale inflammatoire rare caractérisée par une arthrite d'apparition juvénile qui affecte moins de cinq articulations au cours des six premiers mois après le début de la maladie."},"de":{"name":"Arthritis, idiopathische juvenile, oligoartikuläre","synonyms":["Arthritis, chronische pauciartikuläre","Oligoarthritis mit antinukleäre Faktoren","Oligoartikuläre JIA"],"definition":"Eine seltene entzündlich-rheumatische Erkrankung, die durch eine juvenile Arthritis gekennzeichnet ist, die in den ersten 6 Monaten nach Krankheitsbeginn weniger als 5 Gelenke betrifft."},"es":{"name":"Artritis idiopática juvenil oligoarticular","synonyms":["AIJ oligoarticular","Artritis crónica pauciarticular"],"definition":"Es una enfermedad reumática inflamatoria poco frecuente caracterizada por artritis de inicio juvenil que afecta a menos de 5 articulaciones durante los primeros 6 meses después del inicio de la enfermedad."},"it":{"name":"Artrite idiopatica giovanile oligoarticolare","synonyms":["Artrite pauciarticolare cronica"],"definition":"Si tratta di una malattia reumatica infiammatoria rara, caratterizzata da artrite ad esordio giovanile, che interessa meno di cinque articolazioni nei sei mesi che seguono l'esordio della malattia."},"nl":{"name":"Oligoarticulaire juveniele idiopathische artritis","synonyms":["Oligoarticulaire JIA","Pauciarticulaire chronische artritis"],"definition":"Een zeldzame, inflammatoire reumatische ziekte, gekarakteriseerd door juveniel optredende artritis die minder dan 5 gewrichten aantast tijdens de eerste 6 maanden na aanvang van de ziekte."},"pt":{"name":"Artrite oligoarticular juvenil"},"pl":{"name":"Młodzieńcze zapalenie kilku stawów","synonyms":["JIA pojedynczych stawów","Przewlekłe zapalenie kilku stawów"]},"cs":{"name":"Oligoartikulární forma juvenilní idiopatické artritidy","synonyms":["Pauciartikulární juvenilní artritida"]},"uk":{"name":"Олігосуглобовий ювенільний ідіопатичний артрит","synonyms":["Олігосуглобовий ЮРА","Хронічний суглобово-суглобовий хронічний артрит"],"definition":"A rare inflammatory rheumatic disease characterized by juvenile onset arthritis that affects fewer than 5 joints during the first 6 months after disease onset."},"zh":{"name":"少关节型幼年特发性关节炎","synonyms":["少关节型慢性关节炎"]},"tr":{"name":"Oligoartiküler jüvenil idiyopatik artrit","synonyms":["Oligoartiküler JIA","Pauciartiküler kronik artrit"]}},"xrefs":[{"source":"ICD-10","code":"M08.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FA24.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1990556904"},{"source":"MONDO","code":"0019433","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536312","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931171","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4261","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":247839,"name":"OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies","status":"inactive"},{"type":"Referred to","orpha":247846,"name":"OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":92,"name":"Juvenile idiopathic arthritis","classifications":[184,196,231,233]},{"orpha":280926,"name":"Systemic diseases with anterior uveitis","classifications":[189]}],"children":[],"genes":[{"symbol":"ANKRD55","name":"ankyrin repeat domain 55","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"23603761[PMID]","hgnc":"25681","ensembl":"ENSG00000164512","omim":"615189","loci":["5q11.2"]},{"symbol":"CD247","name":"CD247 molecule","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22294642[PMID]","hgnc":"1677","ensembl":"ENSG00000198821","omim":"186780","loci":["1q24.2"]},{"symbol":"IL2RA","name":"interleukin 2 receptor subunit alpha","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22294642[PMID]","hgnc":"6008","ensembl":"ENSG00000134460","omim":"147730","loci":["10p15.1"]},{"symbol":"IL2RB","name":"interleukin 2 receptor subunit beta","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"23603761[PMID]","hgnc":"6009","ensembl":"ENSG00000100385","omim":"146710","loci":["22q12.3"]},{"symbol":"PTPN2","name":"protein tyrosine phosphatase non-receptor type 2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22294642[PMID]","hgnc":"9650","ensembl":"ENSG00000175354","omim":"176887","loci":["18p11.21"]},{"symbol":"PTPN22","name":"protein tyrosine phosphatase non-receptor type 22","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23603761[PMID]","hgnc":"9652","ensembl":"ENSG00000134242","omim":"600716","loci":["1p13.2"]},{"symbol":"STAT4","name":"signal transducer and activator of transcription 4","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23603761[PMID]","hgnc":"11365","ensembl":"ENSG00000138378","omim":"600558","loci":["2q32.2-q32.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.5,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-21","source":"28428675[PMID]_26968301[PMID]_21621220[PMID]_21320644[PMID]_28052441[PMID]","terms":[{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040313","label":"Oligoarthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011117","label":"Abnormal circulating interleukin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030356","label":"Increased serum interferon-gamma level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005086","label":"Knee osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007833","label":"Anterior chamber synechiae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000585","label":"Band keratopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null}]}}