{"orpha":91138,"name":"Cryoglobulinemic vasculitis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Essential cryoglobulinemia","Essential mixed cryoglobulinemia","Mixed cryoglobulinemia","Primary cryoglobulinemia"],"definition":"A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91138/","orphanet_url":"https://www.orpha.net/en/disease/detail/91138","names":{"fr":{"name":"Vascularite cryoglobulinémique","synonyms":["Cryoglobulinémie essentielle","Cryoglobulinémie essentielle mixte","Cryoglobulinémie mixte","Cryoglobulinémie primaire"],"definition":"Vascularite rare médiée par des complexes immuns, caractérisée par la présence de complexes immuns cryoprécipitables circulants dans le sérum, se manifestant cliniquement par la triade classique de purpura, faiblesse et arthralgie."},"de":{"name":"Kryoglobulinämische Vaskulitis","synonyms":["Kryoglobulinämie, essentielle","Kryoglobulinämie, essentielle gemischte","Kryoglobulinämie, gemischte","Kryoglobulinämie, primäre"],"definition":"Die gemischte Kryoglobulinämie (MC) ist eine seltene Multisystemerkrankung und gekennzeichnet durch im Serum zirkulierende, kälteagglutinierende Immunkomplexe. Die Krankheit wird klinisch durch die klassische Trias Purpura, Muskelschwäche und Arthralgie manifest."},"es":{"name":"Vasculitis crioglobulinémica","synonyms":["Crioglobulinemia esencial","Crioglobulinemia esencial mixta","Crioglobulinemia mixta","Crioglobulinemia primaria"],"definition":"Es una vasculitis poco frecuente mediada por inmunocomplejos caracterizada por la presencia de complejos inmunes circulantes crioprecipitables en suero. Se manifiesta clínicamente por la clásica triada de púrpura, debilidad y artralgia."},"it":{"name":"Vasculite crioglobulinemica","synonyms":["Crioglobulinemia essenziale","Crioglobulinemia mista","Crioglobulinemia mista essenziale","Crioglobulinemia primitiva","MC"],"definition":"La vasculite crioglobulinemica è una vasculite rara mediata da complessi immunitari, caratterizzata dalla presenza di complessi immunitari crioprecipitabili circolanti nel siero. Dal punto di vista clinico, la malattia si manifesta con la triade caratteristica porpora, debolezza e artralgia."},"nl":{"name":"Cryoglobulinemische vasculitis","synonyms":["Essentiële cryoglobulinemie","Essentiële gemengde cryoglobulinemie","Gemengde cryoglobulinemie","Primaire cryoglobulinemie"],"definition":"Een zeldzame door immuuncomplexen gemedieerde vasculitis, gekarakteriseerd door aanwezigheid van circulerende cryoprecipiteerbare immuuncomplexen in serum, en de klassieke triade van purpura, zwakte en artralgie als klinische manifestatie."},"pt":{"name":"Crioglobulinemia mista","definition":"A crioglobulinemia mista (CM) é uma doença multissistémica rara caracterizada pela presença de complexos imunes crioprecipitáveis circulantes no soro, que se manifesta clinicamente por uma tríade clássica de púrpura, fraqueza e artralgia."},"pl":{"name":"Krioglobulinowe zapalenie naczyń","synonyms":["Krioglobulinemia mieszana","Krioglobulinemia pierwotna","MC","Mieszana krioglobulinemia"]},"cs":{"name":"Kryoglobulinemická vaskulitida","synonyms":["Esenciální kryoglobulinémie","Esenciální smíšená kryoglobulinémie","MC","Smíšená kryoglobulinémie","Primární kryoglobulinémie"]},"uk":{"name":"Кріоглобулінемічний васкуліт","synonyms":["Есенціальна кріоглобулінемія","Есенціальна змішана кріоглобулінемія","Змішана кріоглобулінемія","Первинна кріоглобулінемія"],"definition":"A rare immune complex-mediated vasculitis characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifesting clinically with the classical triad of purpura, weakness and arthralgia."},"zh":{"name":"冷球蛋白血症血管炎","synonyms":["特发性混合性冷球蛋白血症"]},"tr":{"name":"Kriyoglobulinemik vaskülit","synonyms":["Karma kriyoglobulinemi","Primer kriyoglobulinemi","Esansiyel kriyoglobulinemi","Esansiyel karma kriyoglobulinemi"]}},"xrefs":[{"source":"OMIM","code":"123550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"4A44.90","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"55133785"},{"source":"MONDO","code":"0007407","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340992","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6386","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027756","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":156149,"name":"Immune complex mediated vasculitis","classifications":[196,198]},{"orpha":280369,"name":"Rare pediatric vasculitis","classifications":[231]},{"orpha":264973,"name":"Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis","classifications":[184,233]},{"orpha":209007,"name":"Systemic inflammatory disease associated with an acquired peripheral neuropathy","classifications":[181]},{"orpha":567560,"name":"Systemic vasculitis associated with glomerulopathy","classifications":[188,233]}],"children":[{"orpha":93554,"name":"Mixed cryoglobulinemia type II","type":"Etiological subtype"},{"orpha":93555,"name":"Mixed cryoglobulinemia type III","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"United States","status":"Validated","source":"6996482[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"18796155[PMID]","terms":[{"hpo":"HP:0012224","label":"Circulating immune complexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100778","label":"Cryoglobulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100721","label":"Mediastinal lymphadenopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000967","label":"Petechiae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","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:0100758","label":"Gangrene","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100820","label":"Glomerulopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009831","label":"Mononeuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006562","label":"Viral hepatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Occasional (29-5%)","criteria":null}]}}