{"orpha":86864,"name":"Heavy chain disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HCD"],"definition":"Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86864/","orphanet_url":"https://www.orpha.net/en/disease/detail/86864","names":{"fr":{"name":"Maladie des chaînes lourdes","synonyms":["HCD"],"definition":"La maladie des chaînes lourdes (MCL) est un groupe de syndromes lymphoprolifératifs rares impliquant les lymphocytes B et caractérisés par la production monoclonale de chaines lourdes tronquées sans chaînes légères associées."},"de":{"name":"Schwerketten-Krankheit","synonyms":["HCD"],"definition":"Die Schwerketten-Krankheiten (HCDs) sind seltene, monoklonale lymphozytär-plasmazellulär-proliferative Störungen. Involviert sind die B-Zellen mit der Produktion verkürzter Schwerketten (heavy chains) ohne assoziierte Leichtketten (light chains)."},"es":{"name":"Enfermedad de las cadenas pesadas","synonyms":["ECP","HCD"],"definition":"Las enfermedades de cadenas pesadas (HCDs) son trastornos proliferativos linfoplasmocitarios monoclonales poco frecuentes que implican a las células B y que se caracterizan por la síntesis de cadenas pesadas truncadas sin cadenas ligeras asociadas."},"it":{"name":"Malattia delle catene pesanti","synonyms":["HCD"],"definition":"Le malattie delle catene pesanti (HCD) sono un gruppo di patologie proliferative delle linfoplasmacellule monoclonali dei linfociti B, caratterizzate dalla sintesi di catene pesanti troncanti, in assenza di catene leggere."},"nl":{"name":"Zwareketenziekte","synonyms":["HCD"],"definition":"Zwareketenziektes (HCD's) zijn zeldzame monoklonale lymfoplasmacel-proliferatieve aandoeningen waarbij B-cellen zijn betrokken en die gekarakteriseerd worden door synthese van getrunceerde zware ketens zonder geassocieerde lichte ketens."},"pt":{"name":"Doenças de cadeias pesadas"},"pl":{"name":"Choroba łańcuchów ciężkich","synonyms":["HCD"]},"cs":{"name":"Nemoc těžkých řetězců","synonyms":["HCD"]},"uk":{"name":"Хвороба важких ланцюгів","synonyms":["HCD"],"definition":"Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains."},"zh":{"name":"重链病","synonyms":["HCD"]},"tr":{"name":"Ağır zincir hastalığı","synonyms":["HCD"]}},"xrefs":[{"source":"ICD-10","code":"C88.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"C88.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"2A84","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"702525006"},{"source":"MONDO","code":"0019464","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006362","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018852","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10019350","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":98282,"name":"Plasma cell tumor","classifications":[194,202,233]}],"children":[{"orpha":100025,"name":"Alpha-heavy chain disease","type":"Clinical subtype"},{"orpha":100026,"name":"Gamma-heavy chain disease","type":"Clinical subtype"},{"orpha":100024,"name":"Mu-heavy chain disease","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"RARECARE surveillance of rare cancers in Europe[OTHER]"}],"phenotypes":null}