{"orpha":85438,"name":"Enthesitis-related juvenile idiopathic arthritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Enthesitis-related JIA","Juvenile ERA"],"definition":"A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85438/","orphanet_url":"https://www.orpha.net/en/disease/detail/85438","names":{"fr":{"name":"Arthrite juvénile idiopathique associée aux enthésopathies","synonyms":["AJI associée aux enthésopathies"],"definition":"Maladie rhumatismale inflammatoire rare touchant les enfants âgés de moins de 16 ans, caractérisée par une arthrite et/ou une enthésite et/ou une uvéite antérieure aiguë. Au moment du diagnostic, les articulations les plus souvent touchées sont celles des genoux, des chevilles et des hanches. Il n'est pas rare que la maladie affecte également les petites articulations des pieds et des orteils."},"de":{"name":"Arthritis, idiopathische juvenile, Enthesitis-assoziierte","synonyms":["Enthesitis-assoziierte JIA","Juvenile ERA"],"definition":"Eine seltene entzündliche rheumatische Erkrankung bei Kindern unter 16 Jahren, die durch Arthritis und/oder Enthesitis und/oder akute anteriore Uveitis gekennzeichnet ist. Die am häufigsten betroffenen Gelenke bei der Diagnose sind die Knie, Knöchel und Hüften. Auch die kleinen Gelenke der Füße und Zehen sind häufig betroffen."},"es":{"name":"Artritis idiopática juvenil asociada a entesitis","synonyms":["AIJ asociada a entesitis","ARE juvenil"],"definition":"Es una enfermedad reumática inflamatoria poco frecuente en pacientes menores de 16 años de edad caracterizada por artritis y/o entesitis y/o uveítis anterior aguda. Las articulaciones más comúnmente afectadas en el momento del diagnóstico son las rodillas, los tobillos y las caderas. Las pequeñas articulaciones de los pies y de los dedos de los pies también suelen estar afectadas."},"it":{"name":"Entesite correlata all'artrite idiopatica giovanile","synonyms":["Spondiloartropatia giovanile"],"definition":"Si tratta di una malattia reumatica infiammatoria rara, che colpisce i bambini di età inferiore ai 16 anni, caratterizzata da artrite e/o entesite e/o uveite anteriore acuta. Alla diagnosi, le articolazioni maggiormente interessate sono le ginocchia, le caviglie e le anche; spesso sono coinvolte anche le piccole articolazioni del piede e delle dita del piede."},"nl":{"name":"Enthesitis-gerelateerde juveniele idiopathische artritis","synonyms":["Enthesitis-gerelateerde JIA","Juveniele ERA"],"definition":"Een zeldzame inflammatoire reumatische aandoening bij een kind jonger dan 16 jaar, gekarakteriseerd door artritis en/of enthesitis en/of acute anterieure uveïtis. De meest frequent getroffen gewrichten bij diagnose zijn knie, enkel, en heup. Kleine gewrichten van voet en teen zijn ook vaak betrokken."},"pt":{"name":"Artrite relacionada com entesite","synonyms":["Artrite relacionada com entesite"]},"pl":{"name":"Młodzieńcze idiopatyczne zapalenie stawów związane z zapaleniem przyczepów ścięgnistych","synonyms":["ERA","JIA związane z zapaleniem przyczepów ścięgnistych"]},"cs":{"name":"Artritida s entezitidou","synonyms":["ERA","Juvenilní spondyloartropatie"]},"uk":{"name":"Ентезит-асоційований ювенільний ідіопатичний артрит","synonyms":["ЮРА, повязаний з ентезитом","Ювенільний ЮРА"],"definition":"A rare inflammatory rheumatic disease in a child younger than 16 years characterized by arthritis and/or enthesitis and/or acute anterior uveitis. The most commonly affected joints at diagnosis are the knees, ankles, and hips. The small joints of the feet and toes are also often involved."},"zh":{"name":"附着点炎症相关幼年特发性关节炎","synonyms":["附着点炎相关性JIA"]},"tr":{"name":"Entezite bağlı jüvenil idiyopatik artrit","synonyms":["ERA","Entezit-ilişkili JIA"]}},"xrefs":[{"source":"ICD-10","code":"M08.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FA24.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1128255226"},{"source":"MONDO","code":"0019437","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495919","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10969","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-21","source":"29609643[PMID]_30884197[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100686","label":"Enthesitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100712","label":"Abnormal lumbar spine morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008364","label":"Abnormality of the calcaneus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100536","label":"Abnormality of the fascia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001384","label":"Abnormality of the hip joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008843","label":"Hip osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005086","label":"Knee osteoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040313","label":"Oligoarthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012317","label":"Sacroiliac arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004690","label":"Thickened Achilles tendon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","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:0011842","label":"Abnormality of skeletal morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003366","label":"Abnormality of the femoral neck or head region","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100711","label":"Abnormality of the thoracic spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003019","label":"Abnormality of the wrist","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012122","label":"Anterior uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031090","label":"Finger dactylitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006217","label":"Limited mobility of proximal interphalangeal joint","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007813","label":"Nongranulomatous uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006698","label":"Dilatation of the ventricular cavity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000794","label":"IgA deposition in the glomerulus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very rare (<4-1%)","criteria":null}]}}