{"orpha":29073,"name":"Multiple myeloma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Kahler disease","Medullary plasmacytoma","Myelomatosis","Plasma cell myeloma"],"definition":"Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-29073/","orphanet_url":"https://www.orpha.net/en/disease/detail/29073","names":{"fr":{"name":"Myélome multiple","synonyms":["Maladie de Kahler","Myélomatose","Myélome à plasmocytes","Plasmacytome médullaire"],"definition":"Tumeur maligne des plasmocytes caractérisée par une surproduction de plasmocytes anormaux dans la moelle osseuse et par la destruction osseuse. Les caractéristiques cliniques sont des douleurs osseuses, une insuffisance rénale, une immunodéficience, une anémie et la présence d'immunoglobulines (Ig) anormales."},"de":{"name":"Myelom, multiples","synonyms":["Kahler-Krankheit","Myelomatose","Plasmazellmyelom","Plasmozytom, medulläres"],"definition":"Das Multiple Myelom (MM) ist ein Malignom der Plasmazellen, der durch eine Überproduktion abnormer Plasmazellen im Knochenmark und eine Zerstörung des Skeletts gekennzeichnet ist. Zu den klinischen Symptomen gehören Knochenschmerzen, Nierenfunktionsstörungen, Immunschwäche, Anämie und das Vorhandensein abnormer Immunglobuline (Ig)."},"es":{"name":"Mieloma múltiple","synonyms":["Enfermedad de Kahler","Mieloma de células plasmáticas","Mielomatosis","Plasmocitoma medular"],"definition":"Es un tumor maligno de células plasmáticas caracterizado por la sobreproducción de células plasmáticas anómalas en la médula ósea y la destrucción del hueso. Las características clínicas son dolor óseo, insuficiencia renal, inmunodeficiencia, anemia y presencia de inmunoglobulinas (Ig) anómalas."},"it":{"name":"Mieloma multiplo","synonyms":["Malattia di Kahler","Mieloma dei plasmociti","Mieloma delle cellule plasmatiche","Mielomatosi","Plasmacitoma midollare"]},"nl":{"name":"Multipel myeloom","synonyms":["Medullair plasmacytoom","Meervoudig myeloom","Myelomatose","Plasmacelmyeloom","Ziekte van Kahler"],"definition":"Meervoudig myeloom (MM) is een kwaadaardige tumor van plasmacellen die wordt gekarakteriseerd door een overproductie van abnormale plasmacellen in het beenmerg en osteopenie. De klinische kenmerken zijn pijn aan de botten, stoornissen aan de nieren, immunodeficiëntie, anemie en de aanwezigheid van abnormale immunoglobulinen (Ig)."},"pt":{"name":"Mieloma múltiplo","synonyms":["Doença de Kahler"]},"pl":{"name":"Szpiczak mnogi","synonyms":["Choroba Kahlera","Mielomatoza","plasmocytoma szpiku","Szpiczak z komórek plazmatycznych"]},"cs":{"name":"Mnohočetný myelom","synonyms":["Kahlerova nemoc","Medulární plazmocytom","Myelomatóza","Plazmocytární myelom"]},"uk":{"name":"Множинна мієлома","synonyms":["Хвороба Калера","Медулярна плазмоцитома","Мієломатоз","Плазмоклітинна мієлома"],"definition":"Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig)."},"zh":{"name":"多发性骨髓瘤","synonyms":["骨髓浆细胞瘤"]},"tr":{"name":"Multipil myelom","synonyms":["Miyelomatoz","Kahler hastalığı","Plazma hücreli miyelom","Medüller plazmasitom"]}},"xrefs":[{"source":"OMIM","code":"254500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C90.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A83.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"526287100"},{"source":"MONDO","code":"0009693","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009101","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026764","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7108","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10028228","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":209016,"name":"Hematological disease associated with an acquired peripheral neuropathy","classifications":[181]},{"orpha":98282,"name":"Plasma cell tumor","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"CCND1","name":"cyclin D1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23502783[PMID]","hgnc":"1582","ensembl":"ENSG00000110092","omim":"168461","loci":["11q13.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"United States","status":"Validated","source":"National Cancer OTHERitute 2005[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.9,"area":"Europe","status":"Validated","source":"World Health Organization 2008[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":7.7,"area":"France","status":"Validated","source":"OTHERitut National du Cancer 2013[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Europe","status":"Validated","source":"World Health Organization 2008[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.6,"area":"United States","status":"Validated","source":"National Cancer OTHERitute 2005[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Iran, Islamic Republic of","status":"Validated","source":"23725136[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":5.1,"area":"Australia","status":"Validated","source":"Cancer OTHERitute New South Wales 2008[OTHER]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"Denmark","status":"Validated","source":"36413106[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-15","source":"30521185[PMID]","terms":[{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002152","label":"Hyperproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000014","label":"Abnormality of the bladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004341","label":"Abnormality of vitamin B12 metabolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012719","label":"Functional abnormality of the gastrointestinal tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003261","label":"Increased circulating IgA level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002953","label":"Vertebral compression fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}