{"orpha":324703,"name":"ABetaL34V amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ABeta amyloidosis, Piedmont type","ABetaL34V-related amyloidosis","HCHWA, Piedmont type","Hereditary cerebral hemorrhage with amyloidosis, Piedmont type"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. 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-324703/","orphanet_url":"https://www.orpha.net/en/disease/detail/324703","names":{"fr":{"name":"Amylose ABetaL34V","synonyms":["Amylose ABeta, type Piedmont","Amylose associée à ABetaL34V","HCHWA type piémontais","Hémorragie cérébrale héréditaire avec amylose type piémontais"],"definition":"Forme d'hémorragie cérébrale héréditaire avec amyloïdose se manifestant entre 50 et 70 ans, caractérisée par des hémorragies intracérébrales lobaires récurrentes et un déclin cognitif. 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":"ABetaL34V-Amyloidose","synonyms":["ABeta-Amyloidose Typ Piedmont","Amyloidose, ABetaL34V-assoziierte","Beta-Amyloidose Typ Piedmont","HCHWA Typ Piedmont","Hereditäre zerebrale Hämorrhagie mit Amyloidose vom Typ Piedmont"],"definition":"Eine Form der hereditären Hirnblutung mit Amyloidose, die durch ein Erkrankungsalter zwischen 50 und 70 Jahren, wiederkehrende lobäre intrazerebrale Blutungen und kognitiven Verfall 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 führt zu einer vermehrten Anhäufung von Amyloid-beta-Protein in den Wänden der Arterien und Kapillaren der Hirnhäute, der Kleinhirnrinde und der Großhirnrinde, was zur Schwächung und schließlich zum Ruptur dieser Gefäße führt."},"es":{"name":"Amiloidosis ABetaL34V","synonyms":["Amiloidosis ABeta tipo piamontés","Amiloidosis asociada a ABetaL34V","HCHWA tipo piamontés","Hemorragia cerebral hereditaria con amiloidosis tipo piamontés"],"definition":"Es una forma de hemorragia cerebral hereditaria con amiloidosis caracterizada por presentarse entre los 50 y 70 años de edad, y por hemorragias intracerebrales lobulares recurrentes y declive cognitivo. 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 ABetaL34V","synonyms":["Amiloidosi ABetaL34V-correlata","Amiloidosi beta, tipo piemontese","Emorraggia cerebrale con amiloidosi, tipo piemontese","HCHWA, tipo piemontese"],"definition":"L'emorragia cerebrale ereditaria con amiloidosi (HCHWA) tipo piemontese è una forma di HCHWA (si veda questo termine) con un'età all'esordio di 50-70 anni, ricorrenti emorragie intracerebrali lobari e declino cognitivo."},"nl":{"name":"ABètaL34V-amyloïdose","synonyms":["ABèta-amyloïdose, Piedmont-type","ABètaL34V-gerelateerde amyloïdose","Erfelijke cerebrale hemorragie met amyloïdose, Piedmont-type","HCHWA, Piedmont-type"],"definition":"Een vorm van hereditaire cerebrale hemorragie met amyloïdose, gekarakteriseerd door een aanvangsleeftijd tussen 50-70 jaar, recidiverende lobaire intracerebrale hemorragie, en cognitieve functiestoornis. 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 Piedmont"},"pl":{"name":"Amyloidoza ABetaL34V","synonyms":["Amyloidoza zależna od ABetaL34V","Beta amyloidoza, typ piemoncki","Dziedziczny krwotok mózgowy z amyloidozą, typ piemoncki","HCHWA, typ piemoncki"]},"cs":{"name":"ABetaL34V amyloidóza","synonyms":["ABetaL34V-vázaná amyloidóza","Beta amyloidóza, piedmontský typ","HCHWA, piedmontský typ","Hereditární cerebrální krvácení s amyloidózou, piedmontský typ"]},"uk":{"name":"Амілоїдоз ABetaL34V","synonyms":["Абета-амілоїдоз, пємонтський тип","Амілоїдоз, повязаний з ABetaL34V","HCHWA, пємонтський тип","Спадковий крововилив у мозок з амілоїдозом, пємонтський тип"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. 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":"AβL34V淀粉样变性","synonyms":["Piedmont型遗传性脑出血伴淀粉样变性"],"definition":"皮埃蒙特型遗传性脑出血伴淀粉样变性（HCHWA）是HCHWA（见该术语）的一种类型，其特征是发病年龄在50-70岁之间，反复出现脑叶出血和认知功能下降。"},"tr":{"name":"ABetaL34V amiloidoz","synonyms":["HCHWA, Piedmont tipi","ABetaL34V-ilişkili amiloidoz","ABeta amiloidoz, Piedmont tipi","Amiloidozlu kalıtsal beyin kanaması, Piedmont 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":"0017945","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679882","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":"16178030[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":"16178030[PMID]_19225789[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16178030[PMID]_19225789[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:0001259","label":"Coma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null}]}}