{"orpha":85446,"name":"Wild type ABeta2M amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ABeta2Mwt amyloidosis","Dialysis-related amyloidosis","Dialysis-related arthropathy","Wild type ABeta2-microglobulinic amyloidosis"],"definition":"A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (&#946;2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85446/","orphanet_url":"https://www.orpha.net/en/disease/detail/85446","names":{"fr":{"name":"Amylose ABeta2M wild type","synonyms":["Amylose ABeta2Mwt","Amylose liée à la dialyse","Amylose à bêta-2 microglobuline wild type","Arthropathie liée à la dialyse"],"definition":"Forme d'amylose survenant chez les patients atteints d'insuffisance rénale chronique (IRC), sous dialyse de longue durée, caractérisée par l'accumulation de fibrilles amyloïdes constituées de dépôts de bêta&nbsp;2 microglobuline (&#946;2M) dans le système musculo-squelettique, entraînant un syndrome du canal carpien (SCC), une arthropathie chronique, des lésions osseuses kystiques, une ostéoarthropathie destructrice et des fractures pathologiques."},"de":{"name":"ABeta2M-Amyloidose, Wild-Typ","synonyms":["ABeta2Mwt-Amyloidose","Amyloidose, Dialyse-bedingte","Beta2-Mikroglobulin-Amyloidose","Dialyse-bedingte Arthropathie"],"definition":"Eine seltene Form der Amyloidose, die bei Patienten mit chronischer Nierenerkrankung (CKD) auftritt, die sich einer Langzeitdialyse unterziehen. Sie ist gekennzeichnet durch die Ansammlung von Amyloidfibrillen, die aus Beta-2-Mikroglobulin (&#946;2M)-Ablagerungen im Bewegungsapparat bestehen und zu Karpaltunnelsyndrom (CTS), chronischer Arthropathie, zystischen Knochenläsionen, destruktiver Osteoarthropathie und pathologischen Frakturen führen."},"es":{"name":"Amiloidosis ABeta2M forma nativa","synonyms":["Amiloidosis ABeta2M microglobulínica tipo salvaje","Amiloidosis ABeta2Mwt","Amiloidosis asociada a diálisis"],"definition":"Es una forma de amiloidosis que afecta a pacientes con enfermedad renal crónica (ERC) en diálisis a largo plazo. Está caracterizada por el acúmulo de fibrillas de amiloide que consisten en depósitos de microglobulina beta 2 (&#946;2M) en el sistema musculoesquelético que conduce al síndrome del túnel carpiano (STC) , artropatía crónica, lesiones óseas quísticas, osteoartropatía destructiva y fracturas patológicas."},"it":{"name":"Amiloidosi ABeta2M wild-type","synonyms":["Amiloidosi ABeta2Mwt","Amiloidosi dialisi-correlata","Artropatia dialisi-correlata","Amiloidosi ABeta2-microglobulinica wild-type"]},"nl":{"name":"Wild-type ABèta2M-amyloïdose","synonyms":["ABeta2Mwt-amyloïdose","Dialysegerelateerde amyloïdose","Dialysegerelateerde artropathie","Wild-type ABèta2-microglobuline-amyloïdose"],"definition":"Een vorm van amyloïdose die patiënten met chronische nierziekte (CKD) treft bij langdurige dialyse, gekenmerkt door accumulatie van amyloïdfibrillen bestaande uit bèta-2 microglobuline in musculoskeletaal systeem, wat leidt tot carpale tunnel-syndroom (CTS), chronische artropathie, cystische botlaesies, destructieve osteoartropathie, en pathologische fracturen."},"pt":{"name":"Amiloidose ABeta2M tipo selvagem","synonyms":["Amiloidose ABeta2-microglobulínica tipo selvagem","Amiloidose ABeta2Mwt","Amiloidose diálise-relacionada","Artropatia diálise-relacionada"]},"pl":{"name":"Dziki typ amyloidozy ABeta2M","synonyms":["Amyloidoza ABeta2Mwt","Amyloidoza dializacyjna","Artropatia związana z dializami","Dziki typ amyloidozy ABeta2-mikroglobulinowej"],"definition":"Postać amyloidozy występująca u pacjentów z przewlekłą chorobą nerek poddawanych długotrwałej dializie i charakteryzująca się gromadzeniem włókien amyloidowych złożonych ze złogów beta 2-mikroglobuliny (2M) w układzie mięśniowo-szkieletowym, co prowadzi do zespołu cieśni nadgarstka, przewlekłej artropatii, torbielowatych zmian kostnych, destrukcyjnej osteoartropatii i patologicznych złamań."},"cs":{"name":"Divoký typ ABeta2M amyloidózy","synonyms":["ABeta2Mwt amyloidóza","Amyloidóza asociovaná s dialýzou","Artropatie asociovaná s dialýzou","Divoký typ ABeta2-mikroglobulární amyloidózy"]},"uk":{"name":"Амілоїдоз дикого типу ABeta2M","synonyms":["Амілоїдоз ABeta2Mwt","Амілоїдоз, повязаний з діалізом","Артропатія, повязана з діалізом","Дикий тип ABeta2-мікроглобулінового амілоїдозу"],"definition":"A form of amyloidosis affecting patients with chronic kidney disease (CKD), on long term dialysis characterized by the accumulation of amyloid fibrils consisting of beta 2 microglobulin (&#946;2M) deposits in the musculoskeletal system leading to carpal tunnel syndrome (CTS), chronic arthropathy, cystic bone lesions, destructive osteoarthropathy, and pathologic fractures."},"zh":{"name":"野生型β2微球蛋白型淀粉样变性","synonyms":["野生型β2微球蛋白型淀粉样变性"]},"tr":{"name":"Yabani tip ABeta2M amiloidoz","synonyms":["ABeta2Mwt amiloidoz","Diyaliz-ilişkili amiloidoz","Diyaliz-ilişkili artropati","Yabanıl tip ABeta2-mikroglobulinik amiloidoz"]}},"xrefs":[{"source":"ICD-10","code":"E85.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5D00.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"499046814"},{"source":"MONDO","code":"0019440","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268405","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.5,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-09","source":"27994478[PMID]","terms":[{"hpo":"HP:0001369","label":"Arthritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030834","label":"Shoulder pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001227","label":"Abnormality of the thenar eminence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003447","label":"Axonal loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007078","label":"Decreased amplitude of sensory action potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000762","label":"Decreased nerve conduction velocity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012534","label":"Dysesthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005106","label":"Abnormality of the vertebral endplates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003040","label":"Arthropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100261","label":"Abnormal tendon morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030843","label":"Cardiac amyloidosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004389","label":"Intestinal pseudo-obstruction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Very rare (<4-1%)","criteria":null}]}}