{"orpha":37748,"name":"Schnitzler syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Chronic urticaria with gammopathy","Chronic urticaria with macroglobulinemia"],"definition":"Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-37748/","orphanet_url":"https://www.orpha.net/en/disease/detail/37748","names":{"fr":{"name":"Syndrome de Schnitzler","synonyms":["Urticaire chronique avec gammopathie","Urticaire chronique avec macroglobulinémie"],"definition":"Le syndrome de Schnitzler est une maladie rare et sous-diagnostiquée de l'adulte caractérisée par des fièvres éruptives récurrentes, des douleurs osseuses et/ou articulaires, des adénopathies, une fatigue, la présence d'IgM monoclonales, une leucocytose et une réponse inflammatoire systémique."},"de":{"name":"Schnitzler-Syndrom","synonyms":["Chronische Urtikaria mit Gammopathie","Chronische Urtikaria mit Makroglobulinämie"],"definition":"Das Schnitzler-Syndrom ist eine seltene, aber wohl auch zu selten diagnostizierte Krankheit Erwachsener. Kennzeichnend sind rezidivierende, von Fieber begleitete Exantheme, Knochen- und/oder Gelenkschmerzen, vergrößerte Lymphknoten, Erschöpfung, monoklonale IgM-Komponente, Leukozytose und systemische Entzündungszeichen."},"es":{"name":"Síndrome de Schnitzler","synonyms":["Urticaria crónica con gammapatía","Urticaria crónica con macroglobulinemia"],"definition":"El síndrome de Schnitzler es un trastorno poco frecuente e infradiagnosticado en adultos que se caracteriza por una erupción febril, dolor de huesos y/o articulaciones, inflamación de los ganglios linfáticos, fatiga, un componente monoclonal IgM, leucocitosis y una respuesta inflamatoria sistémica."},"it":{"name":"Sindrome di Schnitzler","synonyms":["Orticaria cronica con gammapatia","Orticaria cronica con macroglobulinemia"]},"nl":{"name":"Syndroom van Schnitzler","synonyms":["Chronische netelroos met gammopathie","Chronische netelroos met macroglobulinemie","Chronische urticaria met gammopathie","Chronische urticaria met macroglobulinemie"],"definition":"Een zeldzame, ondergediagnosticeerde aandoening bij volwassenen, gekenmerkt door recidiverende febriele huiduitslag, bot- en/of gewrichtspijn, vergrote lymfeklieren, vermoeidheid, een monoklonale IgM-component, leukocytose, en systemische inflammatoire respons."},"pt":{"name":"Síndrome Schnitzler","synonyms":["Utricária crónica com gamopatia","Utricária crónica com macroglobulinemia"],"definition":"O síndrome de Schnitzler é uma doença rara e subdiagnosticada em adultos caracterizada por erupções febris recorrentes, dor óssea e/ou das articulações, aumento dos gânglios linfáticos, fadiga, um componente monoclonal IgM, leucocitose e resposta inflamatória sistémica."},"pl":{"name":"Zespół Schnitzlera","synonyms":["Pokrzywka przewlekła z makroglobulinemią","Porzywka przewlekła z gammapatią"]},"cs":{"name":"Schnitzlerové syndrom","synonyms":["Chronická kopřivka provázející gamapatii","Chronická kopřivka s makroglobulinemií"]},"uk":{"name":"Синдром Шніцлера","synonyms":["Хронічна кропивянка з гамопатією","Хронічна кропивянка з макроглобулінемією"],"definition":"Schnitzler syndrome is a rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response."},"zh":{"name":"Schnitzler综合征","synonyms":["慢性荨麻疹-丙种球蛋白病"]},"tr":{"name":"Schnitzler sendromu","synonyms":["Gammopatili kronik ürtiker","Makroglobulinemili kronik ürtiker"]}},"xrefs":[{"source":"ICD-10","code":"L50.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1867840545"},{"source":"MONDO","code":"0018304","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D019873","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0524988","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12390","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062908","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":102237,"name":"Unexplained periodic fever syndrome","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"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:0002653","label":"Bone pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003496","label":"Increased circulating IgM level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200034","label":"Papule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null}]}}