{"orpha":324718,"name":"ABetaA21G amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ABeta amyloidosis, Flemish type","ABetaA21G-related amyloidosis","HCHWA, Flemish type","Hereditary cerebral hemorrhage with amyloidosis, Flemish type"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324718/","orphanet_url":"https://www.orpha.net/en/disease/detail/324718","names":{"fr":{"name":"Amylose ABetaA21G","synonyms":["Amylose ABeta, type flamande","Amylose associée à ABetaA21G","HCHWA type flamande","Hémorragie cérébrale héréditaire avec amylose type flamande"],"definition":"Forme d'hémorragie cérébrale héréditaire avec amyloïdose se manifestant à 45 ans, caractérisée par une démence progressive semblable à la maladie d'Alzheimer et une hémorragie intracérébrale lobaire chez certains patients. Ce sous-type est dû à une mutation du gène <i>APP</i> (21q21.2), codant pour la protéine précurseur de la bêta-amyloïde. Cette mutation augmente l'accumulation de la protéine bêta-amyloïde sur les parois artérielles et capillaires des méninges, du cortex cérébelleux et cérébral, conduisant à la fragilisation et, à terme, à la rupture de ces vaisseaux."},"de":{"name":"ABetaA21G-Amyloidose","synonyms":["ABeta-Amyloidose vom flämischen Typ","Amyloidose, ABetaA21G-assoziierte","Beta-Amyloidose vom flämischen Typ","HCHWA Typ Flandern","Zerebrale Hämorrhagie mit Amyloidose, hereditäre, flämischer Typ"],"definition":"Eine hereditäre Form der Hirnblutung mit Amyloidose, die durch eine fortschreitende, der Alzheimer-Krankheit ähnliche Demenz und bei einigen Patienten durch eine lobäre intrazerebrale Blutung charakterisiert ist. Das Erkrankungsalter liegt bei 45 Jahren. Dieser Subtyp ist auf eine Mutation im <i>APP</i>-Gen (21q21.2) zurückzuführen, das für das Beta-Amyloid-Vorläuferprotein kodiert. Diese Mutation führt zu einer vermehrten Anhäufung von Amyloid-beta-Protein in den Wänden der Arterien und Kapillaren der Hirnhäute, der Kleinhirnrinde und der Großhirnrinde, was zu einer Schwächung und schließlich zur Ruptur dieser Gefäße führt."},"es":{"name":"Amiloidosis ABetaA21G","synonyms":["Amiloidosis ABeta tipo flamenco","Amiloidosis asociada a ABetaA21G","HCHWA tipo flamenco","Hemorragia cerebral hereditaria con amiloidosis tipo flamenco"],"definition":"Es una forma de hemorragia cerebral hereditaria con amiloidosis caracterizada por presentarse a los 45 años de edad, demencia progresiva similar a la enfermedad de Alzheimer y, en algunos pacientes, hemorragias intracerebrales lobulares. Este subtipo se debe a una mutación en el gen <i>APP</i> (21q21.2), que codifica el precursor de la proteína beta-amiloide. Esta mutación causa un aumento en la acumulación de proteína beta-amiloide en las paredes de las arterias y los capilares de las meninges, corteza cerebelosa, corteza cerebral, que conduce a un debilitamiento y finalmente una ruptura de estos vasos."},"it":{"name":"Amiloidosi ABetaA21G","synonyms":["Amiloidosi ABetaA21G-correlata","Amiloidosi beta, tipo fiammingo","Emorragia cerebrale ereditaria con amiloidosi, tipo fiammingo","HCHWA, tipo fiammingo"],"definition":"L'emorragia cerebrale ereditaria con amiloidosi (HCHWA) tipo fiammingo è una forma di HCHWA (si veda questo termine) caratterizzata da un esordio a 45 anni, demenza progressiva simile al morbo di Alzheimer ed emorragia intracerebrale lobare in alcuni pazienti."},"nl":{"name":"ABètaA21G-amyloïdose","synonyms":["ABèta-amyloïdose, Vlaams type","ABètaA21G-gerelateerde amyloïdose","Erfelijke cerebrale hemorragie met amyloïdose, Vlaams type","HCHWA, Vlaams type"],"definition":"Een vorm van hereditaire cerebrale hemorragie met amyloïdose, gekarakteriseerd door een aanvangsleeftijd van 45 jaar, progressieve dementie gelijkend op ziekte van Alzheimer, en bij sommige patiënten lobaire intracerebrale hemorragie. Dit subtype is het gevolg van een mutatie in het gen <i>APP</i> (21q21.2), dat codeert voor bèta-amyloïd-voorlopereiwit. Deze mutatie veroorzaakt verhoogde accumulatie van het eiwit bèta-amyloïd in wanden van slagaders en haarvaten van hersenvliezen, cortex cerebelli en cortex cerebri, waardoor deze bloedvaten verzwakken en uiteindelijk scheuren."},"pt":{"name":"Hemorragia cerebral hereditária com amiloidose, tipo Flamengo"},"pl":{"name":"Amyloidoza ABetaA21G","synonyms":["Amyloidoza zależna od ABetaA21G","Beta amyloidoza, typ flamandzki","Dziedziczny krwotok mózgowy z amyloidozą, typ flamandzki","HCHWA, typ flamandzki"]},"cs":{"name":"ABetaA21G amyloidóza","synonyms":["ABetaA21G-vázaná amyloidóza","Beta amyloidóza, Flemishův typ","HCHWA, Flemishův typ","Hereditární cerebrální krvácení s amyloidózou, Flemishův typ"]},"uk":{"name":"Амілоїдоз ABetaA21G","synonyms":["Абета-амілоїдоз, фламандський тип","Амілоїдоз, повязаний з ABetaA21G","HCHWA, фламандський тип","Спадковий крововилив у мозок з амілоїдозом, фламандський тип"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia, and lobar intracerebral hemorrhage in some patients. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels."},"zh":{"name":"AβA21G淀粉样变性","synonyms":["Flemish型遗传性脑出血伴淀粉样变性"],"definition":"弗兰芒型遗传性脑出血与淀粉样变(HCHWA)是HCHWA(见该术语)的一种类型，其特征是发病年龄在45岁左右,表现为进行性阿尔茨海默病样痴呆，部分病人有脑叶出血的表现。"},"tr":{"name":"ABetaA21G amiloidoz","synonyms":["HCHWA, Flaman tipi","ABetaA21G-ilişkili amiloidoz","ABeta amiloidoz, Flaman tipi","Amiloidoz ile seyreden kalıtsal beyin kanaması, Flaman tipi"]}},"xrefs":[{"source":"OMIM","code":"605714","qualifier":"NTBT","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":"8B22.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017948","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679878","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":85458,"name":"Hereditary cerebral amyloid angiopathy","classifications":[156,181,196]}],"children":[],"genes":[{"symbol":"APP","name":"amyloid beta precursor protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1303239[PMID]","hgnc":"620","ensembl":"ENSG00000142192","omim":"104760","loci":["21q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}