{"orpha":100025,"name":"Alpha-heavy chain disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Immunoproliferative small intestinal disease","Mediterranean lymphoma","Alpha-HCD","IPSID"],"definition":"A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100025/","orphanet_url":"https://www.orpha.net/en/disease/detail/100025","names":{"fr":{"name":"Maladie des chaînes lourdes alpha","synonyms":["Alpha-HCD","IPSID","Lymphome méditerranéen","Maladie immunoproliférative de l'intestin grêle"],"definition":"La maladie des chaînes lourdes alpha (MCL alpha) est une forme de maladie des chaînes lourdes (MCL) caractérisée par la production d'une chaîne alpha incomplète et sans chaînes légères. La MCL alpha est considéré comme une forme de maladie immunoproliférative de l'intestin grêle (IPSID pour <i>immunoproliferative small intestinal disease</i>). Le tableau clinique est dominé par une diarrhée chronique avec malabsorption."},"de":{"name":"Alpha-Schwerkettenkrankheit","synonyms":["Alpha-HCD","IPSID","Immunoproliferative Erkrankung des Dünndarms","Mediterranes Lymphom"],"definition":"Die Alpha-Schwerkettenkrankheit (Alpha-HCD) ist ein Typ der HCD (s. dort) und gekennzeichnet durch unvollständige monoklonale schwere Alpha-Ketten ohne assoziierte leichte Ketten. Die Alpha-HCD wird als Subtyp der immunproliferativen Dünndarm-Krankheit (IPSID) angesehen. Das klinische Bild wird geprägt durch chronische Diarrhoe und Zeichen der Malabsorption."},"es":{"name":"Enfermedad de cadenas pesadas alfa","synonyms":["Alfa-HCD","Enfermedad inmunoproliferativa del intestino delgado","IPSID","Linfoma mediterráneo"],"definition":"Es un tipo de enfermedad de cadenas pesadas (ECP) caracterizada por la producción de cadenas pesadas alfa monoclonales incompletas sin cadenas ligeras asociadas. La ECP alfa se considera un subtipo de enfermedad inmunoproliferativa del intestino delgado (EIPID). La presentación clínica incluye diarrea crónica con evidencia de malabsorción."},"it":{"name":"Malattia delle catene pesanti alfa","synonyms":["Alfa-HCD","IPSID","Linfoma mediterraneo","Malattia immunoproliferativa dell'intestino tenue"],"definition":"La malattia delle catene pesanti alfa (alfa-HCD) è una forma di HCD (si veda questo termine), caratterizzata dalla produzione di catene pesanti alfa monoclonali, in assenza di catene leggere. L'alfa-HCD è considerata un sottotipo della malattia immunoproliferativa dell'intestino tenue (IPSID; si veda questo termine). Il quadro clinico comprende la diarrea cronica ed il malassorbimento"},"nl":{"name":"Alfa-zwareketenziekte","synonyms":["Alfa-HCD","IPSID","Immunoproliferatieve ziekte van dunne darm","Mediterraan lymfoom"],"definition":"Een type van zwareketenziekte (HCD) gekarakteriseerd door de productie van onvolledige monoklonale alfa-zware ketens zonder geassocieerde lichte ketens. Alfa-HCD wordt beschouwd als een subtype van immunoproliferatieve dunnedarmziekte (IPSID). De klinische presentatie omvat chronische diarree met bewijs van malabsorptie."},"pt":{"name":"Doença da cadeia pesada alfa","definition":"A doença de cadeias pesadas alfa (HCD-alfa) é um tipo de HCD (ver este termo) caracterizada pela produção de cadeias pesadas alfa monoclonais incompletas sem cadeias leves associadas. A HCD-alfa é considerada como sendo um subtipo de doença imunoproliferativa do intestino delgado (IPSID; ver este termo). A apresentação clínica inclui diarreia crónica com evidência de má absorção."},"pl":{"name":"Choroba łańcuchów ciężkich alfa","synonyms":["Alfa-HCD","Chłoniak śródziemnomorski","Immunoproliferacyjna choroba jelita cienkiego","IPSID"]},"cs":{"name":"Nemoc z těžkých řetězců alfa","synonyms":["Alfa HCD","IPSID","Imunoproliferativní nemoc tenkého střeva","Středomořský lymfom"]},"uk":{"name":"Хвороба важких ланцюгів Альфа","synonyms":["Альфа-HCD","Імунопроліферативні захворювання тонкої кишки","IPSID","Середземноморська лімфома"],"definition":"A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption."},"zh":{"name":"α重链病","synonyms":["免疫增殖性小肠疾病"],"definition":"α重链病史HCD的一种类型，其特征是产生不完整的单克隆α-重链，没有伴随的轻链。α-HCD被认为是免疫增殖性小肠疾病(IPSID)的一个亚型。临床表现包括慢性腹泻和吸收不良的证据。"},"tr":{"name":"Alfa-ağır zincir hastalığı","synonyms":["IPSID","Alpha-HCD","Akdeniz lenfoması","İmmünoproliferatif ince bağırsak hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"C88.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"2A84.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"680227490"},{"source":"ICD-11","code":"XH1Y65","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1906266505"},{"source":"MONDO","code":"0015045","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007161","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0021071","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":103915,"name":"OBSOLETE: Immunoproliferative small intestinal disease","status":"inactive"}],"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":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":400.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","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:0002244","label":"Abnormality of the small intestine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002961","label":"Dysgammaglobulinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}