{"orpha":100026,"name":"Gamma-heavy chain disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Franklin disease","Gamma-HCD"],"definition":"A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100026/","orphanet_url":"https://www.orpha.net/en/disease/detail/100026","names":{"fr":{"name":"Maladie des chaînes lourdes gamma","synonyms":["Gamma-HCD","Maladie de Franklin"],"definition":"La maladie des chaînes lourdes gamma (MCL gamma) est une forme de maladie des chaînes lourdes (MCL) caractérisée par la production d'une chaîne gamma incomplète et sans chaînes légères. Le tableau clinique le plus fréquent est celui d'une maladie auto-immune et/ou lymphoproliférative systémique."},"de":{"name":"Gamma-Schwerkettenkrankheit","synonyms":["Franklin-Krankheit","Gamma-HCD"],"definition":"Die Gamma-Schwerketten-Krankheit (Gamma-HCD), ein Typ der HCD (s. dort), ist gekennzeichnet durch die Produktion verkürzter monoklonaler Gamma-Schwerketten ohne assoziierte leichte Ketten. Das klinische Bild ähnelt am meisten dem von Patienten mit systemischen lymphoproliferativen Autoimmunkrankheiten."},"es":{"name":"Enfermedad de cadenas pesadas gamma","definition":"Es un tipo de enfermedad de cadenas pesadas (HCD) caracterizado por la producción de cadenas pesadas gamma monoclonales incompletas sin cadenas ligeras asociadas. Su presentación clínica más común se parece a la de los pacientes con enfermedades sistémicas linfoproliferativas/autoinmunes."},"it":{"name":"Malattia delle catene pesanti gamma","synonyms":["Gamma-HCD","Malattia di Franklin"],"definition":"La malattia delle catene pesanti gamma (HCD-gamma) è un tipo di HCD (si veda questo termine) caratterizzato dalla produzione di catene pesanti monoclonali gamma incomplete, in assenza di catene leggere. Il quadro clinico si sovrappone per molti aspetti a quello dei pazienti con disturbi sistemici autoimmuni/linfoproliferativi."},"nl":{"name":"Gamma-zwareketenziekte","synonyms":["Gamma-HCD","Ziekte van Franklin"],"definition":"Een type van zwareketenziekte (HCD), gekarakteriseerd door de productie van onvolledige monoklonale gamma-zware ketens zonder geassocieerde lichte ketens. De klinische presentatie lijkt meestal op die van patiënten met systemische lymfoproliferatieve/auto-immuunziekten."},"pt":{"name":"Doença da cadeia pesada gama","definition":"A doença das cadeias pesadas gama (gama-HCD) é um tipo de HCD (ver este termo) caracterizada pela produção de cadeias pesadas gama monoclonais incompletas sem cadeias leves associadas. A apresentação clínica mais comum é semelhante à dos doentes com doenças sistémicas linfoproliferativas / autoimunes."},"pl":{"name":"Choroba łańcuchów ciężkich gamma","synonyms":["Choroba Franklina","Gamma-HCD"]},"cs":{"name":"Nemoc z těžkých řetězců gama","synonyms":["Franklinova nemoc","Gama HCD"]},"uk":{"name":"Хвороба важких ланцюгів Гамма","synonyms":["Хвороба Франкліна","Гамма-HCD"],"definition":"A type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases."},"zh":{"name":"γ重莲病","synonyms":["Franklin病"],"definition":"γ重链病HCD的一种类型，其特征是产生不完全的单克隆γ重链，没有伴随的轻链。临床表现通常与系统性淋巴增生性/自身免疫性疾病患者相似。"},"tr":{"name":"Gama ağır zincir hastalığı","synonyms":["Gama-HCD","Franklin hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"C88.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A84.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"705015637"},{"source":"MONDO","code":"0015046","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018854","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10346","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":120.0,"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":null,"terms":[{"hpo":"HP:0004332","label":"Abnormal lymphocyte morphology","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:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","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:0100648","label":"Neoplasm of the tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001370","label":"Rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}