{"orpha":829,"name":"Adult-onset Still disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["AOSD","Wissler-Fanconi syndrome"],"definition":"A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-829/","orphanet_url":"https://www.orpha.net/en/disease/detail/829","names":{"fr":{"name":"Maladie de Still de l'adulte","synonyms":["AOSD","MSA","Syndrome de Wissler-Fanconi"],"definition":"Maladie multisystémique inflammatoire rare caractérisée par quatre signes cliniques cardinaux : fièvre d'origine inconnue, arthralgie ou arthrite, hyperleucocytose et éruption cutanée caractéristique."},"de":{"name":"Still-Syndrom des Erwachsenen","synonyms":["AOSD","Wissler-Fanconi-Syndrom"],"definition":"Eine seltene entzündliche Multisystemerkrankung, die klinisch durch vier Kardinalsymptome gekennzeichnet ist: Fieber unbekannter Herkunft, Arthralgie oder Arthritis, Hyperleukozytose und typischer Hautausschlag."},"es":{"name":"Enfermedad de Still del adulto","synonyms":["AOSD","Síndrome de Wissler-Fanconi"],"definition":"Es un trastorno inflamatorio multisistémico poco frecuente caracterizado clínicamente por cuatro signos cardinales: fiebre de origen desconocido, artralgia o artritis, hiperleucocitosis y una erupción cutánea típica."},"it":{"name":"Malattia di Still a esordio nell'adulto","synonyms":["AOSD","Sindrome di Wissler-Fanconi"],"definition":"La malattia di Still ad esordio nell'età adulta (AOSD) è una malattia infiammatoria multisistemica rara, caratterizzata da quattro segni clinici principali: la febbre ad eziologia ignota, l'artralgia o l'artrite, l'iperleucocitosi e l'eruzione cutanea caratteristica."},"nl":{"name":"Ziekte van Still met aanvang op volwassen leeftijd","synonyms":["AOSD","Syndroom van Wissler-Fanconi"],"definition":"Een zeldzame inflammatoire multisysteemziekte, klinisch gekarakteriseerd door vier hoofdkenmerken: koorts van onbekende oorsprong, artralgie of artritis, hyperleukocytose, en typische huiduitslag."},"pt":{"name":"Doença Still com início na idade adulta","synonyms":["Síndrome Wissler-Fanconi"],"definition":"Doença inflamatória multissistémica rara, caracterizada clinicamente por quatro sinais cardinais: febre de origem desconhecida, artralgia ou artrite, hiperleucocitose e erupção cutânea típica."},"pl":{"name":"Choroba Stilla z początkiem w wieku dorosłym","synonyms":["AOSD","Zespół Wisslera i Fanconiego"]},"cs":{"name":"Stillova nemoc s nástupem v dospělém věku","synonyms":["AOSD","Wisslerův-Fanconiho syndrom","Wissler-Fanconiho syndrom"]},"uk":{"name":"Хвороба Стілла, що починається у дорослих","synonyms":["AOSD","Синдром Вісслера-Фанконі"],"definition":"A rare inflammatory multisystem disorder characterized clinically by four cardinal signs: fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash."},"zh":{"name":"成人Still病","synonyms":["Wissler-Fanconi综合征"]},"tr":{"name":"Erişkin başlangıçlı Still hastalığı","synonyms":["AOSD","Wissler-Fanconi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"M06.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"FA23","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"549009522"},{"source":"MONDO","code":"0019355","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D016706","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0085253","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"436","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10064056","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"France","status":"Validated","source":"7668903[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Japan","status":"Validated","source":"9465547[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.9,"area":"Japan","status":"Validated","source":"25382730[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Norway","status":"Validated","source":"16467042[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.9,"area":"Norway","status":"Validated","source":"16467042[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_16467042[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.62,"area":"Turkey","status":"Validated","source":"26320744[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.77,"area":"Turkey","status":"Validated","source":"26320744[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-06-14","source":"34175791[PMID]_30855928[PMID]_19028363[PMID]","terms":[{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005059","label":"Arthralgia/arthritis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"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:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001386","label":"Joint swelling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011897","label":"Neutrophilia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025406","label":"Asthenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008940","label":"Generalized lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:6000933","label":"Koebner Phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0040186","label":"Maculopapular exanthema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033050","label":"Pharyngalgia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0025439","label":"Pharyngitis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002102","label":"Pleuritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005828","label":"Transient pulmonary infiltrates","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005528","label":"Bone marrow hypocellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100773","label":"Cartilage destruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012544","label":"Elevated circulating aldolase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012156","label":"Hemophagocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006515","label":"Interstitial pneumonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011034","label":"Amyloidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005521","label":"Disseminated intravascular coagulation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100534","label":"Episcleritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0033430","label":"Non-infectious meningitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000554","label":"Uveitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031693","label":"Severe Epstein Barr virus infection","frequency":"Excluded (0%)","criteria":"Diagnostic criterion"}]}}