{"orpha":100006,"name":"ABeta amyloidosis, Dutch type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["ABetaE22Q amyloidosis","HCHWA, Dutch type","HCHWA-D","Hereditary cerebral hemorrhage with amyloidosis, Dutch type"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by severe cerebral amyloid angiopathy (CAA), predominantly hemorrhagic strokes and dementia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100006/","orphanet_url":"https://www.orpha.net/en/disease/detail/100006","names":{"fr":{"name":"Amylose ABeta, type néerlandais","synonyms":["Amylose ABetaE22Q","HCHWA type néerlandais","HCHWA-D","Hémorragie cérébrale héréditaire avec amylose type néerlandais"],"definition":"L'hémorragie cérébrale héréditaire avec amylose type néerlandais (HCHWA type néerlandais) est une forme d'hémorragie cérébrale héréditaire avec amylose (HCHAA), un groupe de troubles du système nerveux central (SNC) caractérisé par une angiopathie amyloïde cérébrale (AAC), des accidents vasculaire cérébraux (AVC) hémorragiques et non- hémorragiques et une démence."},"de":{"name":"Abeta-Amyloidose vom holländischen Typ","synonyms":["ABetaE22Q-Amyloidose","HCHWA vom holländischen Typ","HCHWA-D","Zerebrale Hämorrhagie mit Amyloidose, hereditäre, holländischer Typ"],"definition":"Der holländische Typ der Hereditären zerebralen Hämorrhagie mit Amyloidose (HCHWA-D) ist eine Form der HCHWA (siehe dort), einer Gruppe familiärer Störungen des zentralen Nervensystems mit schwerer zerebraler amyloider Angiopathie (CAA), hämorrhagischen und nicht-hämorrhagischen Schlaganfällen und Demenz."},"es":{"name":"Amiloidosis ABeta tipo neerlandés","synonyms":["Amiloidosis ABetaE22Q","HCHWA tipo neerlandés","HCHWA-D","Hemorragia cerebral hereditaria con amiloidosis tipo neerlandés"],"definition":"La hemorragia cerebral hereditaria con amiloidosis tipo holandés (HCHWA-D) es una forma de HCHWA (consulte este término), un grupo de trastornos familiares del sistema nervioso central, caracterizada por una angiopatía amiloide cerebral grave (CAA), ictus hemorrágicos y no hemorrágicos y demencia."},"it":{"name":"Amiloidosi Abeta, tipo olandese","synonyms":["Amiloidosi ABetaE22Q","Emorragia cerebrale ereditaria con amiloidosi, tipo olandese","HCHWA, tipo olandese","HCHWA-D"],"definition":"L'emorragia cerebrale ereditaria con amiloidosi tipo olandese (HCHWA-D) è una forma dell'HCHWA (si veda questo termine), un gruppo di malattie familiari del sistema nervoso centrale, caratterizzato da grave angiopatia amiloide cerebrale (CAA), ictus emorragici e non emorragici e demenza."},"nl":{"name":"ABèta-amyloïdose, Nederlands type","synonyms":["ABètaE22Q-amyloïdose","Erfelijke cerebrale hemorragie met amyloïdose, Nederlands type","HCHWA, Nederlands type","HCHWA-D"],"definition":"Erfelijke cerebrale hemorragie met amyloïdose, Nederlands type (HCHWA-D) is een vorm van HCHWA (zie deze term), een groep familiale aandoeningen van het centrale zenuwstelsel, die wordt gekarakteriseerd door ernstige cerebrale amyloïde angiopathie (CAA), beroertes met of zonder bloedingen, en dementie."},"pt":{"name":"Amiloidose ABeta, tipo Holandês","synonyms":["Amiloidose ABeta E22Q","HCHWA, tipo Holandês","HCHWA-D","Hemorragia cerebral com amiloidose hereditária, tipo holandês"]},"pl":{"name":"Amyloidoza BetaE22Q, typ holenderski","synonyms":["Amyloidoza BetaE22Q","Dziedziczny krwotok mózgowy z amyloidozą, typ holenderski","HCHWA, typ holenderski","HCHWA-D","Amyloidoza ABeta typu holenderskiego"]},"cs":{"name":"ABeta amyloidóza, holandský typ","synonyms":["ABetaE22Q amyloidóza","HCHWA, holandský typ","HCHWA-D","Dědičná cerebrální hemoragie s amyloidózou, holandský typ"]},"uk":{"name":"Абета-амілоїдоз, голландський тип","synonyms":["Амілоїдоз ABetaE22Q","HCHWA, голландський тип","HCHWA-D","Спадковий крововилив у мозок з амілоїдозом, голландський тип"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by severe cerebral amyloid angiopathy (CAA), predominantly hemorrhagic strokes and dementia."},"zh":{"name":"Dutch型ABeta淀粉样变性病","synonyms":["Dutch型遗传性脑出血合并淀粉样变性"],"definition":"遗传性脑出血伴淀粉样变性Dutch型(HCHWA-D)是HCHWA(见本词条)的一种形式，是一组家族性中枢神经系统疾病，以严重的脑淀粉样血管病(CAA)、出血性和非出血性中风和痴呆为特征。"},"tr":{"name":"ABeta amiloidoz, Hollanda tipi","synonyms":["HCHWA-D","HCHWA, Dutch tipi","ABetaE22Q amiloidoz","Amiloidozlu kalıtsal beyin kanaması, Dutch 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":"index","validated":true,"icd11_uri":"1251572976"},{"source":"MONDO","code":"0015033","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931672","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":"24870607[PMID]","hgnc":"620","ensembl":"ENSG00000142192","omim":"104760","loci":["21q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"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":{"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: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:0002315","label":"Headache","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011970","label":"Cerebral amyloid angiopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100613","label":"Death in early adulthood","frequency":"Occasional (29-5%)","criteria":null}]}}