{"orpha":324708,"name":"ABeta amyloidosis, Iowa type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ABetaD23N amyloidosis","HCHWA, Iowa type","Hereditary cerebral hemorrhage with amyloidosis, Iowa type"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. 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-324708/","orphanet_url":"https://www.orpha.net/en/disease/detail/324708","names":{"fr":{"name":"Amylose ABeta type Iowa","synonyms":["Amylose ABetaD23N","HCHWA type Iowa","Hémorragie cérébrale héréditaire avec amylose type Iowa"],"definition":"Forme d'hémorragie cérébrale héréditaire avec amyloïdose se manifestant entre 50 et 66 ans, caractérisée par des troubles de la mémoire, des saccades myocloniques, une dysphagie expressive, le steppage, des changements de personnalité et des hémorragies intracérébrales lobaires. 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 Iowa","synonyms":["ABetaD23N-Amyloidose","HCHWA Typ Iowa","Hereditäre zerebrale Hämorrhagie mit Amyloidose vom Typ Iowa"],"definition":"Eine Form der hereditären Hirnblutung mit Amyloidose, die durch ein Erkrankungsalter zwischen 50 und 66 Jahren, Gedächtnisstörungen, myoklonische Zuckungen, exprimierte Schluckstörungen, einen kurzschrittigen Gang, Persönlichkeitsveränderungen und lobäre intrazerebrale Blutungen gekennzeichnet ist. Dieser Subtyp ist auf eine Mutation im <i>APP</i>-Gen (21q21.2) zurückzuführen, das für das Beta-Amyloid-Vorläuferprotein kodiert. Diese Mutation verursacht eine vermehrte Ablagerung des Amyloid-beta-Proteins in den Wänden der Arterien und Kapillaren der Meningen und der Kleinhirn- und Großhirnrinde, was zur Schwächung und möglichen Ruptur dieser Gefäße führt."},"es":{"name":"Amiloidosis ABeta tipo Iowa","synonyms":["Amiloidosis ABetaD23N","HCHWA tipo Iowa","Hemorragia cerebral hereditaria con amiloidosis tipo Iowa"],"definition":"Es una forma de hemorragia cerebral hereditaria con amiloidosis caracterizada por presentarse entre los 50-66 años de edad, deterioro de la memoria, convulsiones, disfagia llamativa expresiva, marcha de pasos cortos, cambios de personalidad y hemorragias intracerebrales lobulares. Este subtipo se debe a una mutación en el gen <i>APP</i> localizado en el cromosoma 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 ABeta, tipo Iowa","synonyms":["Amiloidosi ABetaD23N","Emorragia cerebrale ereditaria con amiloidosi, tipo Iowa","HCHWA, tipo Iowa"],"definition":"L'emorragia cerebrale ereditaria con amiloidosi (HCHWA) tipo Iowa è una forma di HCHWA (si veda questo termine) con un'età all'esordio di 50-66 anni, compromissione della memoria, scosse miocloniche, disfagia espressiva, andatura a passi corti, disturbi della personalità ed emorragie intracerebrali lobari."},"nl":{"name":"ABèta-amyloïdose, Iowa-type","synonyms":["ABètaD23N-amyloïdose","Erfelijke cerebrale hemorragie met amyloïdose, Iowa-type","HCHWA, Iowa-type"],"definition":"Een vorm van hereditaire cerebrale hemorragie met amyloïdose, gekarakteriseerd door een aanvangsleeftijd tussen 50-66 jaar, geheugenstoornis, myoclonische schokbewegingen, expressieve dysfagie, tred met kleine stappen, persoonlijkheidsveranderingen, en 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 Iowa"},"pl":{"name":"ABeta amyloidoza, typ Iowa","synonyms":["Amyloidoza ABetaD23N","Dziedziczny krwotok mózgowy z amyloidozą, typ Iowa","HCHWA, typ Iowa"]},"cs":{"name":"ABeta amyloidóza, iowský typ","synonyms":["ABetaD23N amyloidóza","HCHWA, iowský typ","Hereditární cerebrální krvácení s amyloidózou, iowský typ"]},"uk":{"name":"Абета-амілоїдоз, тип Айова","synonyms":["Амілоїдоз ABetaD23N","HCHWA, тип Айова","Спадковий крововилив у мозок з амілоїдозом, тип Айова"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. 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":"Iowa型AβL34V淀粉样变性","synonyms":["Iowa型遗传性脑出血伴淀粉样变性"],"definition":"爱荷华州型遗传性脑出血与淀粉样变(HCHWA)是HCHWA(见该术语)的一种类型，其特点是发病年龄在50 - 66岁之间,表现为记忆障碍,肌肉阵挛性抽搐、表现性？吞咽困难,步幅小、人格改变和脑叶出血。"},"tr":{"name":"ABeta amiloidoz, Iowa tipi","synonyms":["HCHWA, Iowa tipi","ABetaD23N amiloidoz","Amiloidoz ile seyreden kalıtsal beyin kanaması, Iowa 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":"0017946","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679881","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":"12557012[PMID]","hgnc":"620","ensembl":"ENSG00000142192","omim":"104760","loci":["21q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"11409420[PMID]_12654973[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11409420[PMID]_12654973[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very frequent (99-80%)","criteria":null}]}}