{"orpha":439254,"name":"ITM2B amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial cerebral amyloid angiopathy","ITM2B-related amyloidosis","ITM2B-related cerebral amyloid angiopathy"],"definition":"A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-439254/","orphanet_url":"https://www.orpha.net/en/disease/detail/439254","names":{"fr":{"name":"Amylose ITM2B","synonyms":["Amylose associée à ITM2B","Angiopathie amyloïde cérébrale familiale"],"definition":"Maladie neurodégénérative rare caractérisée par une démence et une ataxie progressives, une angiopathie amyloïde cérébrale étendue et des dépôts amyloïdes dans le parenchyme. Deux sous-types de la maladie ont été identifiés : amylose ABri et amylose ADan."},"de":{"name":"ITM2B-Amyloidose","synonyms":["Amyloidangiopathie, zerebrale, familiäre Form","ITM2B-bedingte Amyloidose","Zerebrale Amyloidangiopathie, ITM2B-abhängige"],"definition":"Eine seltene neurodegenerative Erkrankung, die durch fortschreitende Demenz und Ataxie, eine ausgedehnte zerebrale Amyloidangiopathie und parenchymale Amyloidablagerungen gekennzeichnet ist. Es wurden zwei Subtypen identifiziert: ABri-Amyloidose und ADan-Amyloidose."},"es":{"name":"Amiloidosis ITM2B","synonyms":["Angiopatía amiloide cerebral familiar"],"definition":"Es una enfermedad neurodegenerativa poco frecuente caracterizada por demencia progresiva y ataxia, angiopatía amiloide cerebral generalizada y depósitos parenquimatosos de amiloide. Se han identificado dos subtipos: amiloidosis ABri y amiloidosis ADan."},"it":{"name":"Amiloidosi ITM2B","synonyms":["Amiloidosi ITM2B-correlata","Angiopatia amiloide cerebrale ITM2B-correlata"],"definition":"È una malattia neurodegenerativa rara, caratterizzata da demenza e atassia progressive, angiopatia amiloide cerebrale diffusa e depositi parenchimali di amiloide. Sono noti due sottotipi della malattia: l'amiloidosi ABri e l'amiloidosi ADan."},"nl":{"name":"ITM2B-amyloïdose","synonyms":["Familiale cerebrale amyloïde angiopathie","ITM2B-gerelateerde amyloïdose","ITM2B-gerelateerde cerebrale amyloïde angiopathie"],"definition":"Een zeldzame, neurodegeneratieve ziekte die gekarakteriseerd wordt door progressieve dementie en ataxie, wijdverspreide cerebrale amyloïde angiopathie en parenchymale afzetting van amyloïd. Er werden twee subtypes geïdentificeerd: ABri-amyloïdose en ADan-amyloïdose."},"pt":{"name":"Amiloidose ITM2B"},"pl":{"name":"Amyloidoza ITM2B","synonyms":["Amyloidoza zależna od ITM2B","Rodzinna mózgowa angiopatia amyloidowa","Mózgowa angiopatia amyloidowa zależna od ITM2B"]},"cs":{"name":"ITM2B amyloidóza","synonyms":["ITM2B-vázaná amyloidóza","ITM2B-vázaná cerebrální amyloidová angiopatie"]},"uk":{"name":"Амілоїдоз ITM2B","synonyms":["Сімейна церебральна амілоїдна ангіопатія","Амілоїдоз, повязаний з ІТМ2В","Церебральна амілоїдна ангіопатія, повязана з ІТМ2В"],"definition":"A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis."},"zh":{"name":"ITM2B淀粉样变性","synonyms":["ITM2B相关脑淀粉样变性血管病"],"definition":"一种罕见的神经退行性疾病，其特征在于进行性痴呆和共济失调，广泛的脑淀粉样血管病和实质性淀粉样蛋白沉积。已经鉴定出两种亚型，ABri淀粉样变性和ADan淀粉样变性。"},"tr":{"name":"ITM2B amiloidoz","synonyms":["ITM2B ilişkili amiloidoz","Ailesel serebral amiloid anjiyopati","ITM2B-ilişkili serebral amiloid anjiyopati"]}},"xrefs":[{"source":"OMIM","code":"117300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"176500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E85.4+","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"I68.0*","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"503091580"},{"source":"MONDO","code":"0018591","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568806","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":69,"name":"Amyloidosis","classifications":[196]},{"orpha":276058,"name":"Genetic neurodegenerative disease with dementia","classifications":[156]},{"orpha":444116,"name":"Hereditary amyloidosis","classifications":[156]},{"orpha":98534,"name":"Neurodegenerative disease with dementia","classifications":[181]}],"children":[{"orpha":97345,"name":"ABri amyloidosis","type":"Clinical subtype"},{"orpha":97346,"name":"ADan amyloidosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"ITM2B","name":"integral membrane protein 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10391242[PMID]","hgnc":"6174","ensembl":"ENSG00000136156","omim":"603904","loci":["13q14.2"],"via":{"orpha":97345,"name":"ABri amyloidosis"}},{"symbol":"ITM2B","name":"integral membrane protein 2B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10781099[PMID]","hgnc":"6174","ensembl":"ENSG00000136156","omim":"603904","loci":["13q14.2"],"via":{"orpha":97346,"name":"ADan amyloidosis"}}],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24473189[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24473189[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-15","source":"19601795[PMID]_22482447[PMID]","terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011970","label":"Cerebral amyloid angiopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002352","label":"Leukoencephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002185","label":"Neurofibrillary tangles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null}]}}