{"orpha":85414,"name":"Systemic-onset juvenile idiopathic arthritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Still disease","Systemic-onset JIA"],"definition":"A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittent high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85414/","orphanet_url":"https://www.orpha.net/en/disease/detail/85414","names":{"fr":{"name":"Arthrite juvénile idiopathique systémique","synonyms":["AJI systémique","Maladie de Still"],"definition":"Maladie rhumatologique pédiatrique rare caractérisée par la survenue variable d'une arthrite chronique, de pics de fièvre élevés par intermittence, d'une éruption maculopapulaire pendant les épisodes de fièvre, d'une hépatomégalie et/ou splénomégalie, d'une lymphadénopathie et d'une sérosité."},"de":{"name":"Arthritis, idiopathische juvenile, systemische","synonyms":["Still-Krankheit","sJIA"],"definition":"Eine seltene rheumatologische Erkrankung bei Kindern, die durch das variable Auftreten von chronischer Arthritis, intermittierendem hohem Fieber, makulopapulösem Ausschlag während der Fieberschübe, Hepatomegalie und/oder Splenomegalie, Lymphadenopathie und Serositis gekennzeichnet ist."},"es":{"name":"Artritis idiopática juvenil de inicio sistémico","synonyms":["AIJ de inicio sistémico","Enfermedad de Still"],"definition":"Es una enfermedad reumatológica pediátrica poco frecuente caracterizada por la aparición variable de artritis crónica, fiebre alta intermitente, erupción maculopapular durante los episodios febriles, hepatomegalia y/o esplenomegalia, linfadenopatía y serositis."},"it":{"name":"Artrite idiopatica giovanile a esordio sistemico","synonyms":["JIA a esordio sistemico","Malattia di Still"],"definition":"Si tratta di una malattia reumatologica rara pediatrica, caratterizzata da quadri variabili che possono comprendere artrite cronica, febbre elevata intermittente, eruzione maculo-papulare durante gli episodi febbrili, epatomegalia e/o splenomegalia, linfoadenopatia e sierosite."},"nl":{"name":"Juveniele idiopathische artritis met systemische aanvang","synonyms":["JIA met systemische aanvang","Ziekte van Still"],"definition":"Een zeldzame pediatrische reumatologische aandoening, gekarakteriseerd door variabel voorkomen van chronische artritis, intermitterend hoge piekende koorts, maculopapulaire huiduitslag tijdens episodes van koorts, hepatomegalie en/of splenomegalie, lymfadenopathie, en serositis."},"pt":{"name":"Artrite juvenil idiopática de início sistémico","synonyms":["Doença Still","Febre persistente indeterminada"]},"pl":{"name":"Uogólnione idiopatyczne młodzieńcze zapalenie stawów o wczesnym początku","synonyms":["Choroba Stilla","Uogólnione zapalenie wielostawowe"]},"cs":{"name":"Systémová forma juvenilní idiopatické artritidy","synonyms":["Stillova choroba","Systémová polyartritida","Systémová JIA"]},"uk":{"name":"Системний ювенільний ідіопатичний артрит","synonyms":["Хвороба Стілла","Системний початок ЮРА"],"definition":"A rare pediatric rheumatological disease characterized by the variable occurrence of chronic arthritis, intermittent high spiking fever, maculopapular rash during fever episodes, hepatomegaly and/or splenomegaly, lymphadenopathy, and serositis."},"zh":{"name":"全身型幼年特发性关节炎","synonyms":["系统性多关节炎"]},"tr":{"name":"Sistemik başlangıçlı jüvenil idiyopatik artrit","synonyms":["Stil hastalığı","Sistemik başlangıçlı JIA","Sistemik poliartrit"]}},"xrefs":[{"source":"OMIM","code":"604302","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"618795","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M08.2","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FA24.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"504387587"},{"source":"MONDO","code":"0019434","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0087031","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10966","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10042061","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":717871,"name":"Rare systemic or rheumatologic disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"LACC1","name":"laccase domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25220867[PMID]","hgnc":"26789","ensembl":"ENSG00000179630","omim":"613409","loci":["13q14.11"]},{"symbol":"HLA-DRB1","name":"major histocompatibility complex, class II, DR beta 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":"26598658[PMID]","hgnc":"4948","ensembl":"ENSG00000196126","omim":"142857","loci":["6p21.32"]},{"symbol":"IL6","name":"interleukin 6","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"6018","ensembl":"ENSG00000136244","omim":"147620","loci":["7p15.3"]},{"symbol":"MIF","name":"macrophage migration inhibitory factor","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"7097","ensembl":"ENSG00000240972","omim":"153620","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.1,"area":"Worldwide","status":"Validated","source":"24210707[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Worldwide","status":"Validated","source":"24210707[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-07","source":"27392503[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:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005681","label":"Juvenile rheumatoid arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012122","label":"Anterior uveitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004890","label":"Elevated pulmonary artery pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033430","label":"Non-infectious meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}