{"orpha":33226,"name":"Waldenström macroglobulinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare indolent B-cell non-Hodgkin lymphoma, characterized by the infiltration of monoclonal lymphoplasmacytic cells in the bone marrow and the production of serum immunoglobulin M (IgM) monoclonal protein.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-33226/","orphanet_url":"https://www.orpha.net/en/disease/detail/33226","names":{"fr":{"name":"Macroglobulinémie de Waldenström","definition":"Lymphome B non hodgkinien rare d'évolution indolente, caractérisé par une infiltration de cellules lymphoplasmocytaires monoclonales dans la moelle osseuse et la production d'immunoglobulines M (IgM) monoclonales sériques."},"de":{"name":"Makroglobulinämie Waldenström","definition":"Ein seltenes indolentes B-Zell-Non-Hodgkin-Lymphom, das sich durch die Infiltration von monoklonalen Lymphoplasmazellen im Knochenmark und die Produktion von monoklonalem Serum-Immunglobulin M (IgM) auszeichnet."},"es":{"name":"Macroglobulinemia de Waldenström","definition":"Es un linfoma no Hodgkin de células B indolente poco frecuente, caracterizado por la infiltración de células linfoplasmocíticas monoclonales en la médula ósea y por la producción monoclonal de inmunoglobulina M (IgM) sérica."},"it":{"name":"Macroglobulinemia di Waldenström","definition":"La macroglobulinemia di Waldenström (WM) è una malattia linfoproliferativa indolente dei linfociti B, caratterizzata dall'accumulo di cellule monoclonali nel midollo osseo e nei tessuti linfatici periferici, associata alla produzione della proteina monoclonale sierica immunoglobulina M (IgM)."},"nl":{"name":"Macroglobulinemie van Waldenström","definition":"Een zeldzaam indolent B-cel non-Hodgkin-lymfoom, gekenmerkt door infiltratie van monoklonale lymfoplasmacytaire cellen in beenmerg en productie van monoklonaal immunoglobuline M (IgM) in serum."},"pt":{"name":"Macroglobulinemia de Waldenström","definition":"A macroglobulinemia de Waldesntröm (WM) é uma doença linfoproliferativa de células B caracterizada pela acumulação de células monoclonais na medula óssea e nos tecidos linfáticos periféricos, associada à produção monoclonal de imunoglobulina M (IgM) no soro."},"pl":{"name":"Makroglobulinemia Waldenströma","definition":"Makroglobulinemia Waldenstroma (WM) to zaburzenie limfoproliferacyjne niedojrzałych komórek B charakteryzujące się gromadzeniem się monoklonalnych komórek w szpiku kostnym oraz obwodowej tkance limfatycznej, któremu towarzyszy produkcja osoczowego białka monoklonalnego immunoglobuliny M (IgM)."},"cs":{"name":"Waldenströmova makroglobulinemie"},"uk":{"name":"Макроглобулінемія Вальденстрема","definition":"Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein."},"zh":{"name":"华氏巨球蛋白血症"},"tr":{"name":"Waldenström makroglobulinemi"}},"xrefs":[{"source":"OMIM","code":"153600","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"610430","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C88.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A85.4","qualifier":"NTBT","icd_relation":"specific","validated":true,"icd11_uri":"2058944823"},{"source":"MONDO","code":"0100280","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100280","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D008258","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0024419","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7872","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10047801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":300842,"name":"Indolent B-cell non-Hodgkin lymphoma","classifications":[194,202,233]},{"orpha":207046,"name":"Malignant lymphoma with peripheral neuropathy","classifications":[181]}],"children":[],"genes":[{"symbol":"MYD88","name":"MYD88 innate immune signal transduction adaptor","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"23321251[PMID]_23532735[PMID]","hgnc":"7562","ensembl":"ENSG00000172936","omim":"602170","loci":["3p22.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial"],"onset":["Elderly"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.81,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.05,"area":"France","status":"Validated","source":"OTHERitut National du Cancer 2013[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"United States","status":"Validated","source":"22139816[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.55,"area":"United Kingdom","status":"Validated","source":"17416416[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.31,"area":"Spain","status":"Validated","source":"11736938[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2014[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001909","label":"Leukemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005508","label":"Monoclonal immunoglobulin M proteinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000225","label":"Gingival bleeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008046","label":"Abnormal retinal vascular morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100778","label":"Cryoglobulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003565","label":"Elevated erythrocyte sedimentation rate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000421","label":"Epistaxis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002113","label":"Pulmonary infiltrates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000573","label":"Retinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null}]}}