{"orpha":324723,"name":"ABeta amyloidosis, Arctic type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ABetaE22G amyloidosis","HCHWA, Arctic type","Hereditary cerebral hemorrhage with amyloidosis, Arctic type"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia. This subtype is due to a mutation in the APP 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-324723/","orphanet_url":"https://www.orpha.net/en/disease/detail/324723","names":{"fr":{"name":"Amylose ABeta, type arctique","synonyms":["Amylose ABetaE22G","HCHWA type arctique","Hémorragie cérébrale héréditaire avec amylose type arctique"],"definition":"Forme d'hémorragie cérébrale héréditaire avec amyloïdose se manifestant entre 54 et 61 ans, caractérisée par une démence progressive semblable à la maladie d'Alzheimer et l'absence d'hémorragies intracérébrales. 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":"ABeta-Amyloidose Typ Arktis","synonyms":["ABetaE22G-Amyloidose","HCHWA Typ Arktis","HCHWA vom arktischen Typ","Zerebrale Hämorrhagie mit Amyloidose, hereditäre, arktischer Typ"],"definition":"Eine hereditäre Form der Hirnblutung mit Amyloidose, die durch eine progressive Alzheimer-Demenz und das Fehlen intrazerebraler Blutungen gekennzeichnet ist. Das Erkrankungsalter liegt zwischen 54-61 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 ABeta tipo ártico","synonyms":["Amiloidosis ABetaE22G","HCHWA tipo ártico","Hemorragia cerebral hereditaria con amiloidosis tipo ártico"],"definition":"Es una forma de hemorragia cerebral hereditaria con amiloidosis caracterizada por presentarse a los 54-61 años de edad, demencia progresiva similar a la enfermedad de Alzheimer y ausencia de hemorragias intracerebrales. 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 de la acumulación de proteína beta-amiloide en las paredes de las arterias y los capilares de las meninges, corteza cerebelosa y corteza cerebral, que conduce a un debilitamiento y finalmente una rotura de estos vasos."},"it":{"name":"Amiloidosi ABeta tipo artico","synonyms":["Amiloidosi ABetaE22G","Emorragia cerebrale ereditaria con amiloidosi, tipo artico","HCHWA tipo artico","HCHWA, tipo artico"],"definition":"L'emorragia cerebrale ereditaria con amiloidosi (HCHWA) tipo artico è una forma di HCHWA (si veda questo termine) caratterizzata da un esordio a 54-61 anni e una malattia progressiva simile al morbo di Alzheimer, senza emorragie intracerebrali."},"nl":{"name":"ABèta-amyloïdose, Arctisch type","synonyms":["ABètaE22G-amyloïdose","Erfelijke cerebrale hemorragie met amyloïdose, Arctisch type","HCHWA, Arctisch type"],"definition":"Een vorm van hereditaire cerebrale hemorragie met amyloïdose, gekarakteriseerd door een aanvangsleeftijd tussen 54-61 jaar, progressieve dementie gelijkend op ziekte van Alzheimer, en afwezigheid van 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":"Amiloidose ABeta, tipo Ártico","synonyms":["Amiloidose ABetaE22G","HCHWA, tipo Ártico","Hemorragia cerebral hereditária com amiloidose, tipo Ártico"]},"pl":{"name":"ABeta amyloidoza, typ arktyczny","synonyms":["Amyloidoza ABetaE22G","Dziedziczny krwotok mózgowy z amyloidozą, typ arktyczny","HCHWA, typ arktyczny"]},"cs":{"name":"ABeta amyloidóza, arktický typ","synonyms":["ABetaE22G amyloidóza","HCHWA, arktický typ","Hereditární cerebrální krvácení s amyloidózou, arktický typ"]},"uk":{"name":"Абета-амілоїдоз, арктичний тип","synonyms":["Амілоїдоз ABetaE22G","HCHWA, арктичний тип","Спадковий крововилив у мозок з амілоїдозом, арктичний тип"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia. This subtype is due to a mutation in the APP 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":"Arctic型Aβ淀粉样变性","synonyms":["北极型遗传性脑出血伴淀粉样变性"],"definition":"北极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54 - 61岁,表现为进行性阿尔茨海默病样痴呆,无颅内出血。"},"tr":{"name":"ABeta amiloidoz, Arctic tip","synonyms":["HCHWA, Arktik tipi","ABetaE22G amiloidoz","Amiloidoz ile seyreden kalıtsal beyin kanaması, Arktik tip"]}},"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":"0017949","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679880","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":"18413473[PMID]","hgnc":"620","ensembl":"ENSG00000142192","omim":"104760","loci":["21q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"11528419[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11528419[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Very frequent (99-80%)","criteria":null}]}}