{"orpha":100024,"name":"Mu-heavy chain disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["mu-HCD"],"definition":"A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100024/","orphanet_url":"https://www.orpha.net/en/disease/detail/100024","names":{"fr":{"name":"Maladie des chaînes lourdes mu","synonyms":["mu-HCD"],"definition":"La maladie des chaînes lourdes mu (MCL mu) est une forme de maladie des chaînes lourdes (MCL) caractérisée par la production d'une chaîne mu incomplète et sans chaînes légères. Le tableau clinique ressemble à celui des patients atteints de leucémie lymphoïde chronique/ lymphome lymphocytique à petites cellules (LLC/LLPC; voir ces terme)."},"de":{"name":"My-Schwerkettenkrankheit","synonyms":["Mu-HCD"],"definition":"Die Mu (µ)-Schwerketten-Krankheit (Mu-HCD, ein Typ der HCD (s. dort), ist gekennzeichnet durch die Produktion verkürzter monoklonaler µ-Schwerketten ohne assoziierte leichte Ketten. Das klinische Bild ähnelt dem von Patienten mit chronisch-lymphozytärer Leukämie/kleinzellig-lymphozytärem Lymphom (CLL/SLL; s. dort)."},"es":{"name":"Enfermedad de cadenas pesadas mu","definition":"Es un tipo de enfermedad de cadenas pesadas (HCD) caracterizada por la producción de cadenas pesadas mu monoclonales incompletas sin cadenas ligeras asociadas. Su presentación clínica se parece a la de los pacientes con leucemia linfocítica crónica/linfoma linfocítico de células pequeñas (LLC/LLCP)."},"it":{"name":"Malattia delle catene pesanti mu","synonyms":["mu-HCD"],"definition":"La malattia delle catene pesanti mu (HCD-mu) è un tipo di HCD (si veda questo termine) caratterizzato dalla produzione incompleta di catene pesanti-mu monoclonali, in assenza di catene leggere. La presentazione clinica è sovrapponibile a quella della leucemia linfatica cronica/piccolo linfoma linfocitico (CLL/SLL; si veda questo termine)."},"nl":{"name":"Mu-zwareketenziekte","synonyms":["mu-HCD"],"definition":"Een type van zwareketenziekte (HCD), gekarakteriseerd door de productie van onvolledige monoklonale mu-zware ketens zonder geassocieerde lichte ketens. Het klinisch beeld lijkt op dat van patiënten met chronische lymfatische leukemie/klein lymfocytair lymfoom (CLL/SLL)."},"pt":{"name":"Doença da cadeia pesada Mu","definition":"A doença da cadeia pesada Mu (HCD-mu) é um tipo de HCD (ver este termo), caracterizada pela produção incompleta cadeias pesadas -mu monoclonais sem cadeias leves associadas. A apresentação clínica é semelhante à dos doentes com leucemia linfocítica crónica/linfoma linfocítico de pequenas células (CLL/SLL, ver este termo)."},"pl":{"name":"Choroba łańcuchów ciężkich Mu","synonyms":["mu-HCD"]},"cs":{"name":"Nemoc z těžkých řetězců Mu","synonyms":["mu-HCD"]},"uk":{"name":"Хвороба важких ланцюгів Мю","synonyms":["mu-HCD"],"definition":"A type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL)."},"zh":{"name":"μ重链病","synonyms":["mu-HCD"],"definition":"μ重链病是HCD的一种类型，其特征是产生不完整的单克隆重链，没有伴随的轻链。临床表现与慢性淋巴细胞白血病/小淋巴细胞性淋巴瘤(CLL/SLL)相似。"},"tr":{"name":"Mu-ağır zincir hastalığı","synonyms":["mu-HCD"]}},"xrefs":[{"source":"ICD-10","code":"C88.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A84.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"963887455"},{"source":"ICD-11","code":"XH2JK2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"611784632"},{"source":"MONDO","code":"0015044","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0242310","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":86864,"name":"Heavy chain disease","classifications":[194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"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":"15203869[PMID]","terms":[{"hpo":"HP:0010975","label":"Abnormal B cell count","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005561","label":"Abnormality of bone marrow cell morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010702","label":"Increased circulating immunoglobulin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030156","label":"Bence Jones Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null}]}}