{"orpha":324713,"name":"ABeta amyloidosis, Italian type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ABetaE22K amyloidosis","HCHWA, Italian type","Hereditary cerebral hemorrhage with amyloidosis, Italian type"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. 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-324713/","orphanet_url":"https://www.orpha.net/en/disease/detail/324713","names":{"fr":{"name":"Amylose ABeta, type italien","synonyms":["Amylose ABetaE22K","HCHWA type italien","Hémorragie cérébrale héréditaire avec amylose type italien"],"definition":"Forme d'hémorragie cérébrale héréditaire avec amyloïdose se manifestant à 50 ans, caractérisée par une démence et une hémorragie intracérébrale lobaire. 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":"Beta-Amyloidose vom Italienischen Typ","synonyms":["ABetaE22K-Amyloidose","HCHWA Typ Italien","HCHWA vom italienischen Typ","Zerebrale Hämorrhagie mit Amyloidose, hereditäre, italienischer Typ"],"definition":"Eine Form der hereditären Hirnblutung mit Amyloidose, die durch Demenz und lobäre intrazerebrale Blutungen gekennzeichnet ist. Das Erkrankungsalter liegt bei 50 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 italiano","synonyms":["Amiloidosis ABetaE22K","HCHWA tipo italiano","Hemorragia cerebral hereditaria con amiloidosis tipo italiano"],"definition":"Es una forma de hemorragia cerebral hereditaria con amiloidosis caracterizada por presentarse a los 50 años de edad, demencia 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 italiano","synonyms":["Amiloidosi ABetaE22K","Emorragia cerebrale ereditartia con amiloidosi, tipo italiano","HCHWA, tipo italiano"],"definition":"L'emorragia cerebrale ereditaria con amiloidosi (HCHWA) tipo italiano è una forma di HCHWA (si veda questo termine) caratterizzata da un esordio a 50 anni, demenza ed emorragia intracerebrale lobare."},"nl":{"name":"ABèta-amyloïdose, Italiaans type","synonyms":["ABètaE22K-amyloïdose","Erfelijke cerebrale hemorragie met amyloïdose, Italiaans type","HCHWA, Italiaans type"],"definition":"Een vorm van hereditaire cerebrale hemorragie met amyloïdose, gekarakteriseerd door een aanvangsleeftijd van 50 jaar, dementie 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 Italiano"},"pl":{"name":"Beta amyloidoza, typ włoski","synonyms":["Amyloidoza ABetaE22K","Dziedziczny krwotok mózgowy z amyloidozą, typ włoski","HCHWA, typ włoski"]},"cs":{"name":"ABeta amyloidóza, italský typ","synonyms":["ABetaE22K amyloidóza","HCHWA, italský typ","Hereditární cerebrální krvácení s amyloidózou, italský typ"]},"uk":{"name":"Абета-амілоїдоз, італійський тип","synonyms":["Амілоїдоз ABetaE22K","HCHWA, італійський тип","Спадковий крововилив у мозок з амілоїдозом, італійський тип"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. 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":"意大利型AβL34V淀粉样变性","synonyms":["意大利型遗传性脑出血伴淀粉样变性"],"definition":"意大利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岁左右,表现为痴呆和脑叶出血。"},"tr":{"name":"ABeta amiloidoz, İtalyan tipi","synonyms":["HCHWA, İtalyan tipi","ABetaE22K amiloidoz","Amiloidoz ile seyreden kalıtsal beyin kanaması, İtalyan 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":"0017947","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679879","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":"20697050[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":7.0,"area":"Worldwide","status":"Validated","source":"20697050[PMID]_10821838[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20697050[PMID]_10821838[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null}]}}