{"orpha":85408,"name":"Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Juvenile polyarthritis without rheumatoid factor","Juvenile rheumatoid factor-negative polyarthritis","Rheumatoid factor-negative polyarticular JIA"],"definition":"A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85408/","orphanet_url":"https://www.orpha.net/en/disease/detail/85408","names":{"fr":{"name":"Arthrite juvénile idiopathique polyarticulaire sans facteur rhumatoïde","synonyms":["AJI polyarticulaire sans facteur rhumatoïde","Polyarthrite juvénile facteur rhumatoïde négatif","Polyarthrite juvénile sans facteur rhumatoïde"],"definition":"Forme rare d'arthrite idiopathique juvénile polyarticulaire caractérisée par une arthrite chronique de cause inconnue apparaissant dans l'enfance et affectant dès le début cinq articulations ou plus, en l'absence de facteur rhumatoïde de type IgM."},"de":{"name":"Arthritis, idiopathische juvenile polyartikuläre, Rheumafaktor-negative","synonyms":["Juvenile Polyarthritis ohne Rheumafaktor","Polyarthritis, juvenile, Rheumafaktor-negative","Rheumafaktor-negative polyartikuläre JIA"],"definition":"Eine seltene Form der polyartikulären juvenilen idiopathischen Arthritis, die durch eine im Kindesalter auftretende chronische Arthritis unbekannter Ursache gekennzeichnet ist, die bei Krankheitsbeginn fünf oder mehr Gelenke betrifft und keinen Rheumafaktor IgM aufweist."},"es":{"name":"Artritis idiopática juvenil poliarticular factor reumatoide negativo","synonyms":["AIJ poliarticular factor reumatoide negativo","Poliartritis juvenil factor reumatoide negativo","Poliartritis juvenil sin factor reumatoide"],"definition":"Es una forma poco frecuente de artritis idiopática juvenil poliarticular caracterizada por artritis crónica de causa desconocida de inicio en la infancia, afectando a cinco o más articulaciones al comienzo de la enfermedad y ausencia de factor reumatoide IgM."},"it":{"name":"Artrite idiopatica giovanile poliarticolare con fattore reumatoide negativo","definition":"Si tratta di una forma rara di artrite idiopatica giovanile poliarticolare, caratterizzata da artrite cronica ad esordio infantile ad eziologia non nota, che interessa cinque o più articolazioni al momento dell'esordio, in assenza del fattore reumatoide IgM."},"nl":{"name":"Reumafactor-negatieve polyarticulaire juveniele idiopathische artritis","synonyms":["Juveniele polyartritis zonder reumafactor","Juveniele reumafactor-negatieve polyartritis","Reumafactor-negatieve polyarticulaire JIA"],"definition":"Een zeldzame vorm van polyarticulaire juveniele idiopathische artritis, gekarakteriseerd door aanvang in de kindertijd van chronische artritis met ongekende oorzaak, betrokkenheid van vijf of meer gewrichten bij aanvang van de ziekte, en afwezigheid van reumafactor IgM."},"pt":{"name":"Poliartrite sem fator reumatóide"},"pl":{"name":"Młodzieńcze zapalenie stawów z ujemnym czynnikiem reumatoidalnym","synonyms":["Zapalenie wielostawowe bez czynnika reumatoidalnego","JIA z ujemnym czynnikiem reumatoidalnym","Zapalenie wielostawowe bez czynnika reumatoidalnego","Młodzieńcze zapalenie wielostawowe bez czynnika reumatoidalnego"]},"cs":{"name":"Juvenilní revmatoidní faktor-negativní polyartritida","synonyms":["Polyartritida bez revmatoidního faktoru"]},"uk":{"name":"Ревматоїдний фактор-негативний поліартикулярний ювенільний ідіопатичний артрит","synonyms":["Ювенільний поліартрит без ревматоїдного фактора","Ювенільний ревматоїдний фактор-негативний поліартрит","Ревматоїдний фактор-негативний поліартикулярний ЮРА"],"definition":"A rare form of polyarticular juvenile idiopathic arthritis characterized by childhood-onset chronic arthritis of unknown cause involving five or more joints at disease onset and absence of rheumatoid factor IgM."},"zh":{"name":"类风湿因子阴性的多关节型幼年特发性关节炎","synonyms":["类风湿因子阴性的幼年多发性关节炎"]},"tr":{"name":"Romatoid faktör-negatif poliartiküler jüvenil idiyopatik artrit","synonyms":["Romatoid faktör negatif poliartiküler JIA","Romatoid faktör olmaksızın jüvenil poliartrit","Jüvenil romatoid faktör-negatif poliartrit"]}},"xrefs":[{"source":"ICD-10","code":"M08.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"FA24.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1176663320"},{"source":"MONDO","code":"19432","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3890205","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3931","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":247854,"name":"OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies","status":"inactive"},{"type":"Referred to","orpha":247861,"name":"OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies","status":"inactive"}],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":404580,"name":"Polyarticular 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":"1-9 / 100 000","value":8.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-21","source":"17336654[PMID]_28418334[PMID]_32119492[PMID]","terms":[{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001785","label":"Ankle swelling","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:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100686","label":"Enthesitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005086","label":"Knee osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005186","label":"Synovial hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100769","label":"Synovitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001832","label":"Abnormal metatarsal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011911","label":"Abnormality of metacarpophalangeal joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001384","label":"Abnormality of the hip joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010754","label":"Abnormality of the temporomandibular joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008843","label":"Hip osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011134","label":"Low-grade fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001530","label":"Mild postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040313","label":"Oligoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001094","label":"Iridocyclitis","frequency":"Very rare (<4-1%)","criteria":null}]}}