{"orpha":314652,"name":"Variant ABeta2M amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Autosomal dominant beta2-microglobulinic amyloidosis"],"definition":"A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of an amyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314652/","orphanet_url":"https://www.orpha.net/en/disease/detail/314652","names":{"fr":{"name":"Amylose ABeta2M variante","synonyms":["Amylose à bêta-2 microglobuline autosomique dominante"],"definition":"Forme rare d'amylose caractérisée par l'accumulation et le dépôt viscéral étendu de la variante anamyloïdogène de la bêta&nbsp;2 microglobuline entraînant un dysfonctionnement gastro-intestinal progressif, un syndrome de Sjögren et une neuropathie autonome."},"de":{"name":"ABeta2M-Amyloidose, variante","synonyms":["Beta-2-Mikroglobulin-Amyloidose, autosomal-dominante"],"definition":"Eine seltene Form der Amyloidose, die durch eine Anhäufung und ausgedehnte viszerale Ablagerung der anamyloidogenen Variante des Beta-2-Mikroglobulins gekennzeichnet ist und zu fortschreitender gastrointestinaler Dysfunktion, Sjögren-Syndrom und autonomer Neuropathie führt."},"es":{"name":"Amiloidosis variante ABeta2M","synonyms":["Amiloidosis beta2-microglobulínica autosómica dominante"],"definition":"Es una forma poco frecuente de amiloidosis caracterizada por el acúmulo y el depósito visceral extenso de la variante no-amiloidogénica de la beta2-microglobulina que conduce a disfunción gastrointestinal progresiva, síndrome de Sjögren y neuropatía autónoma."},"it":{"name":"Amiloidosi variante ABeta2M","synonyms":["Amiloidosi beta2-microglobulinica autosomica dominante"]},"nl":{"name":"Variant ABèta2M-amyloïdose","synonyms":["Autosomaal dominante bèta2-microglobuline-amyloïdose"],"definition":"Een zeldzame vorm van amyloïdose, gekarakteriseerd door ophoping en wijdverbreide afzetting in ingewanden van een niet-amyloïdogene variant van bèta-2-microglobuline, wat leidt tot progressieve gastro-intestinale disfunctie, syndroom van Sjögren en autonome neuropathie."},"pt":{"name":"Amiloidose variante ABeta2M","synonyms":["Amiloidose beta2-microglobulinica autossómica dominante"]},"pl":{"name":"Wariant amyloidozy ABeta2M","synonyms":["Autosomalna dominująca amyloidoza z beta2-microglobuliną"]},"cs":{"name":"Varianta ABeta2M amyloidózy","synonyms":["Varianta amyloidózy chronicky dialyzovaných","Autozomálně dominantní amyloidóza s beta2-mikroglobulinem"]},"uk":{"name":"Амілоїдоз, варіант ABeta2M","synonyms":["Аутосомно-домінантний бета2-мікроглобуліновий амілоїдоз"],"definition":"A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy."},"zh":{"name":"Aβ2M变异的淀粉样变","synonyms":["常染色体显性β2-微球蛋白淀粉样沉积"],"definition":"一种罕见的淀粉样变性病，其特征是β2微球蛋白淀粉样变体的积累和广泛的内脏沉积，导致进行性胃肠功能障碍，Sj-gren综合征和自主神经病变。"},"tr":{"name":"Varyant ABeta2M amiloidoz","synonyms":["Otozomal dominant beta2-mikroglobulinik amiloidoz"]}},"xrefs":[{"source":"OMIM","code":"105200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1466418791"},{"source":"MONDO","code":"0017810","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302669","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":439246,"name":"ABeta2M amyloidosis","classifications":[196]},{"orpha":444116,"name":"Hereditary amyloidosis","classifications":[156]}],"children":[],"genes":[{"symbol":"B2M","name":"beta-2-microglobulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22693999[PMID]","hgnc":"914","ensembl":"ENSG00000166710","omim":"109700","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"22693999[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22693999[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-01","source":"33112446[PMID]_32392555[PMID]_26333542[PMID]_31226597[PMID]_25750126[PMID]","terms":[{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001917","label":"Renal amyloidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010286","label":"Abnormal salivary gland morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011805","label":"Abnormal skeletal muscle morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025015","label":"Abnormal vascular morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100292","label":"Amyloidosis of peripheral nerves","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003365","label":"Arthralgia of the hip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030843","label":"Cardiac amyloidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011915","label":"Cardiovascular calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012309","label":"Cutaneous amyloidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005244","label":"Gastrointestinal infarctions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012280","label":"Hepatic amyloidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031368","label":"Intestinal perforation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012065","label":"Multiple bony cystic lesions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030834","label":"Shoulder pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030836","label":"Wrist pain","frequency":"Occasional (29-5%)","criteria":null}]}}