{"orpha":91139,"name":"Simple cryoglobulinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cryoglobulinemia type 1"],"definition":"Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91139/","orphanet_url":"https://www.orpha.net/en/disease/detail/91139","names":{"fr":{"name":"Cryoglobulinémie simple","synonyms":["Cryoglobulinémie type I"],"definition":"La cryoglobulinémie simple, ou cryoglobulinémie de type I, est caractérisée par la présence, dans le sérum, d'un isotype ou une sous-classe d'immunoglobuline (Ig) qui précipite réversiblement à une température inférieure à 37°C."},"de":{"name":"Kryoglobulinämie, einfache","synonyms":["Kryoglobulinämie Typ I"]},"es":{"name":"Crioglobulinemia simple","synonyms":["Crioglobulinemia tipo 1","Crioglobulinemia tipo I"],"definition":"La crioglobulinemia simple (monoclonal) o crioglobulinemia tipo I se refiere a la presencia en el suero de un isotipo o subclase de inmunoglobulina (Ig) que precipita de forma reversible por debajo de los 37ºC."},"it":{"name":"Crioglobulinemia semplice","synonyms":["Crioglobulinemia, tipo 1"]},"nl":{"name":"Eenvoudige cryoglobulinemie","synonyms":["Cryoglobulinemie type 1"],"definition":"Eenvoudige (monoklonale) cryoglobulinemie of cryoglobulinemie type I verwijst naar de aanwezigheid in serum van één isotype of subklasse van immunoglobuline (Ig) dat omkeerbaar precipiteert bij temperaturen onder 37°C."},"pt":{"name":"Crioglobulinemia simples","definition":"Crioglobulinemia simples (monoclonal) ou crioglobulinemia tipo I refere-se à presença sérica de um isótipo ou subclasse de imunoglobulinas (Ig) que precipita reversivelmente abaixo dos 37ºC."},"pl":{"name":"Krioglobulinemia prosta","synonyms":["Krioglobulinemia typu 1"]},"cs":{"name":"Monoklonální kryoglobulinémie","synonyms":["Kryoglobulinémie, typ 1"]},"uk":{"name":"Проста кріоглобулінемія","synonyms":["Кріоглобулінемія типу 1"],"definition":"Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C."},"zh":{"name":"单克隆冷球蛋白血症","synonyms":["冷球蛋白血症1型"]},"tr":{"name":"Basit kriyoglobulinemi","synonyms":["Kriyoglobulinemi tip 1"]}},"xrefs":[{"source":"ICD-10","code":"D89.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4B22","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"317480042"},{"source":"MONDO","code":"0019606","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510006","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6217","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":97992,"name":"Rare hematologic disease","classifications":[194]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult","Elderly"],"prevalence":[{"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":"2021-10-13","source":"31355088[PMID]_32535708[PMID]_30731128[PMID]","terms":[{"hpo":"HP:0001871","label":"Abnormality of blood and blood-forming tissues","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410135","label":"Cold urticaria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006121","label":"Acral ulceration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007067","label":"Distal peripheral sensory neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003496","label":"Increased circulating IgM level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033260","label":"Livedo racemosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011355","label":"Localized skin lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032018","label":"Multiple mononeuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031047","label":"Paraproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001955","label":"Unexplained fevers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012191","label":"B-cell lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000793","label":"Membranoproliferative glomerulonephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012574","label":"Mesangial hypercellularity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032290","label":"Monoclonal elevation of IgG","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005508","label":"Monoclonal immunoglobulin M proteinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006775","label":"Multiple myeloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010833","label":"Spontaneous pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011276","label":"Vascular skin abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005550","label":"Chronic lymphatic leukemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032335","label":"Monoclonal elevation of circulating IgA","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000123","label":"Nephritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006562","label":"Viral hepatitis","frequency":"Very rare (<4-1%)","criteria":null}]}}