{"orpha":85443,"name":"AL amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Light-chain amyloidosis"],"definition":"A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85443/","orphanet_url":"https://www.orpha.net/en/disease/detail/85443","names":{"fr":{"name":"Amylose AL","definition":"Trouble clonal des cellules B caractérisé par l'agrégation et le dépôt de fibrilles amyloïdes insolubles secondaires au mauvais repliement des chaînes légères d'immunoglobulines monoclonales. Il se présente généralement sous la forme d'une amylose AL systémique avec atteinte d'un ou plusieurs organes parenchymateux et, plus rarement, sous la forme d'une amylose localisée avec des dépôts généralement nodulaires, limités à un seul organe et/ou système."},"de":{"name":"AL-Amyloidose","synonyms":["Leichtkettenamyloidose"],"definition":"Eine klonale B-Zell-Erkrankung, die durch die Aggregation und Ablagerung von unlöslichen Amyloidfibrillen gekennzeichnet ist, die aus der Fehlfaltung von monoklonalen Immunglobulin-Leichtketten stammen. Sie äußert sich in der Regel als systemische AL-Amyloidose mit Befall eines oder mehrerer parenchymatöser Organe und, seltener, als lokalisierte Amyloidose mit meist knotigen Ablagerungen, die auf ein einzelnes Organ und/oder System beschränkt sind."},"es":{"name":"Amiloidosis AL","synonyms":["Amiloidosis de cadena ligera"],"definition":"Es un trastorno clonal de las células B caracterizado por la agregación y el depósito de fibrillas de amiloide insolubles derivadas de un plegamiento incorrecto de las cadenas ligeras de inmunoglobulina monoclonal. Suele presentarse como amiloidosis AL sistémica con afectación de uno o más órganos parenquimatosos y, con menor frecuencia, como amiloidosis localizada con depósitos nodulares habitualmente restringidos a un único órgano y/o sistema."},"it":{"name":"Amiloidosi AL","synonyms":["Amiloidosi a catena leggera"],"definition":"Si tratta di una malattia clonale delle cellule B, caratterizzata dall'aggregazione e dal deposito di fibrille amiloidi insolubili derivate dal ripiegamento anomalo delle catene leggere delle immunoglobuline monoclonali. Di solito si manifesta sotto forma di amiloidosi AL sistemica con interessamento di uno o più organi parenchimali e, più di rado, sotto forma di amiloidosi localizzata con depositi di solito nodulari limitati ad un singolo organo e/o sistema."},"nl":{"name":"AL-amyloïdose","synonyms":["Lichteketenamyloïdose"],"definition":"Een aandoening van klonale B-cellen, gekenmerkt door aggregatie en depositie van onoplosbare amyloïdfibrillen afkomstig van verkeerd gevouwen monoklonale lichte ketens van immunoglobuline. De ziekte presenteert zich meestal als systemische AL-amyloïdose met betrokkenheid van één of meerdere parenchymale organen en, minder vaak, als gelokaliseerde amyloïdose met meestal nodulaire afzettingen die beperkt blijven tot één enkel orgaan en/of systeem."},"pt":{"name":"Amiloidose AL","synonyms":["Amiloidose de cadeias leves"],"definition":"Doença clonal de células B caracterizada pela agregação e deposição de fibrilhas amilóides insolúveis que derivam da organização incorreta das cadeias leves de imunoglobulina monoclonal. Apresenta-se geralmente como amiloidose AL sistémica com envolvimento de um ou mais órgãos do parênquima e, menos frequentemente, como amiloidose localizada com depósitos geralmente nodulares restritos a um único órgão e/ou sistema."},"pl":{"name":"Amyloidoza AL","synonyms":["Amyloidoza immunoglobulinowa","Amyloidoza łańcuchów lekkich","Amyloidoza pierwotna"]},"cs":{"name":"AL amyloidóza","synonyms":["Primární amyloidóza","Amyloidóza s lehkými řetězci"]},"uk":{"name":"Амілоїдоз AL","synonyms":["Легколанцюговий амілоїдоз"],"definition":"A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system."},"zh":{"name":"AL型淀粉样变性","synonyms":["长链淀粉样变"]},"tr":{"name":"AL amiloidoz","synonyms":["Primer amiloidoz","Hafif zincir amiloidoz"]}},"xrefs":[{"source":"OMIM","code":"254500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.4","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"E85.9","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"5D00.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1061366491"},{"source":"MONDO","code":"0019438","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000075363","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268381","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5797","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036673","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":209013,"name":"Acquired amyloid peripheral neuropathy","classifications":[181]},{"orpha":69,"name":"Amyloidosis","classifications":[196]},{"orpha":217598,"name":"Non-familial hypertrophic cardiomyopathy","classifications":[146,233]},{"orpha":217720,"name":"Non-familial restrictive cardiomyopathy","classifications":[146]},{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]},{"orpha":98282,"name":"Plasma cell tumor","classifications":[194,202,233]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[{"orpha":314709,"name":"Primary localized amyloidosis","type":"Clinical subtype"},{"orpha":314701,"name":"Primary systemic amyloidosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and 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000","value":7.108,"area":"Japan","status":"Validated","source":"35854312[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.43,"area":"Japan","status":"Validated","source":"35854312[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.569,"area":"Russian Federation","status":"Validated","source":"35854312[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.93,"area":"Russian Federation","status":"Validated","source":"35854312[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.822,"area":"Korea, Republic of","status":"Validated","source":"35854312[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.997,"area":"Korea, Republic of","status":"Validated","source":"35854312[PMID]"},{"type":"Point prevalence","qualification":"Value and 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(29-5%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032550","label":"Howell-Jolly bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030164","label":"Jaw claudication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025168","label":"Left ventricular diastolic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031246","label":"Nonproductive cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012398","label":"Peripheral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005307","label":"Postural hypotension with compensatory tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025389","label":"Pulmonary interstitial high-resolution computed tomography abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008321","label":"Reduced factor X activity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001645","label":"Sudden cardiac death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001279","label":"Syncope","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Excluded (0%)","criteria":null}]}}