{"orpha":93556,"name":"Heavy chain deposition disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HCDD"],"definition":"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93556/","orphanet_url":"https://www.orpha.net/en/disease/detail/93556","names":{"fr":{"name":"Maladie de dépôt des chaînes lourdes","synonyms":["HCDD"],"definition":"Maladie rare des dépôts d'immunoglobuline monoclonale non-amyloïde, caractérisée par la production d'immunoglobulines monoclonales à chaînes lourdes tronquées et sans chaînes légères détectables, se déposant dans les tissus et entraînant un dysfonctionnement des organes, mais sans organisation en feuillets bêta-amyloïdes et sans composant-P amyloïde. Cette maladie est souvent associée au myélome multiple. Les patients présentent le plus souvent une atteinte rénale (se manifestant par une hypertension, un dysfonctionnement rénal progressif, une anémie et un syndrome néphrotique avec microhématurie), mais d'autres organes (tels que le foie ou la peau) peuvent également être touchés. La production d'isotypes IgG1 ou IgG3 entraîne une hypercomplémentémie."},"de":{"name":"Schwerketten-Speicherkrankheit","synonyms":["HCDD"],"definition":"Eine nicht-amyloide monoklonale Immunglobulin-Speicherkrankheit, die durch die Produktion monoklonaler Immunglobuline mit verkürzten schweren Ketten und ohne nachweisbare leichte Ketten gekennzeichnet ist, die sich in Geweben ablagern und Organstörungen verursachen, aber keine gefalteten Amyloid-Beta-Schichten bilden oder eine Amyloid-P-Komponente enthalten. Die Erkrankung tritt häufig in Verbindung mit einem multiplen Myelom auf. Am häufigsten sind die Nieren betroffen (mit Bluthochdruck, progressiver Nierenfunktionsstörung, Anämie und nephrotischem Syndrom mit Mikrohämaturie), aber auch andere Organe (z. B. Leber oder Haut) können betroffen sein. Die Produktion der Isotypen IgG1 oder IgG3 führt zu einer Hyperkomplementämie."},"es":{"name":"Enfermedad por depósito de cadenas pesadas","definition":"Es una enfermedad poco frecuente por depósito de inmunoglobulina monoclonal no amiloide caracterizada por la producción de inmunoglobulinas monoclonales con cadenas pesadas truncadas y sin cadenas ligeras detectables, que se depositan en los tejidos ocasionando disfunción orgánica, pero sin formar láminas plegadas de beta amiloide ni contener un componente P amiloide. La afección ocurre con frecuencia en asociación con mieloma múltiple. Los pacientes suelen presentar afectación renal (que se manifiesta como hipertensión, disfunción renal progresiva, anemia y síndrome nefrótico con microhematuria), pero también pueden verse afectados otros órganos (como el hígado o la piel). La producción de isotipos IgG1 o IgG3 produce hipercomplementemia."},"it":{"name":"Malattia da depositi di catene pesanti","synonyms":["HCDD"],"definition":"Si tratta di una malattia rara da deposito di immunoglobuline monoclonali non amiloidi, caratterizzata dalla produzione di immunoglobuline monoclonali con catene pesanti troncate, in assenza di catene leggere, che si depositano nei tessuti causando una disfunzione d'organo, ma non formano foglietti beta pieghettati né contengono una componente amiloide P. La malattia si associa spesso al mieloma multiplo. Di solito i pazienti presentano un coinvolgimento renale (che si manifesta con ipertensione, disfunzione renale progressiva, anemia e sindrome nefrosica con microematuria), ma la malattia può interessare anche altri organi (fegato, cute). La produzione degli isotipi IgG1 o IgG3 esita nell'ipercomplementemia."},"nl":{"name":"Zwareketendepositieziekte","synonyms":["HCDD"],"definition":"Een zeldzame aandoening met depositie van niet-amyloïde monoklonale immunoglobulinen, gekenmerkt door productie van monoklonale immunoglobulinen met getrunceerde zware ketens en geen detecteerbare lichte ketens, die worden afgezet in weefsels en orgaandisfunctie veroorzaken, maar die geen amyloïde bèta-platen vormen of een amyloïd P-component bevatten. De aandoening komt vaak voor in associatie met multipel myeloom. Patiënten vertonen meestal betrokkenheid van nier (die zich manifesteert als hypertensie, progressieve nierdisfunctie, anemie, en nefrotisch syndroom met microhematurie), maar andere organen (zoals lever of huid) kunnen ook aangetast worden. Productie van IgG1- of IgG3-isotypes resulteert in hypercomplementemie."},"pt":{"name":"Doença de deposição de cadeias pesadas","definition":"Doença rara de deposição de imunoglobulina monoclonal não amilóide caracterizada pela produção de imunoglobulinas monoclonais com cadeias pesadas truncadas e sem cadeias leves detectáveis, que são depositadas nos tecidos e causam disfunção orgânica, mas não formam lâminas pregueadas de beta amilóide ou contêm um componente P amilóide. A condição ocorre frequentemente em associação com mieloma múltiplo. Os doentes habitualmente apresentam envolvimento renal (manifestando-se como hipertensão, disfunção renal progressiva, anemia e síndrome nefrótica com microhematúria), mas outros órgãos (como o fígado ou a pele) também podem ser afetados. A produção de isotipos IgG1 ou IgG3 resulta em hipercomplementemia."},"pl":{"name":"Choroba deponowania łańcuchów ciężkich","synonyms":["HCDD"]},"cs":{"name":"Nemoc z depozice těžkých řetězců","synonyms":["HCDD"]},"uk":{"name":"Хвороба відкладення важких ланцюгів","synonyms":["HCDD"],"definition":"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by production of monoclonal immunoglobulins with truncated heavy chains and no detectable light chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition frequently occurs in association with multiple myeloma. Patients most commonly present with renal involvement (manifesting as hypertension, progressive renal dysfunction, anemia, and nephrotic syndrome with microhematuria), but other organs (such as the liver or skin) may also be affected. Production of IgG1 or IgG3 isotypes results in hypercomplementemia."},"zh":{"name":"重链沉积病","synonyms":["HCDD"]},"tr":{"name":"Ağır zincir birikimi hastalığı","synonyms":["HCDD"]}},"xrefs":[{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A83.50","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2018948190"},{"source":"MONDO","code":"0019728","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1333947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":86861,"name":"Non-amyloid monoclonal immunoglobulin deposition disease","classifications":[188,194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}