{"orpha":85458,"name":"Hereditary cerebral amyloid angiopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HCHWA","Hereditary cerebral hemorrhage with amyloidosis"],"definition":"A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85458/","orphanet_url":"https://www.orpha.net/en/disease/detail/85458","names":{"fr":{"name":"Angiopathie amyloïde cérébrale héréditaire","synonyms":["HCHWA","Hémorragie cérébrale héréditaire avec amylose"],"definition":"L'hémorragie cérébrale héréditaire avec amylose (HCHAA) décrit un groupe de maladies familiales rares du système nerveux central caractérisé par des dépôts amyloïdes dans les vaisseaux sanguins cérébraux entraînant des accidents vasculaires cérébraux (AVC) hémorragiques et non-hémorragiques, un déficit neurologique focal, et un déclin cognitif progressif pouvant conduire à une démence."},"de":{"name":"Zerebrale Amyloidangiopathie, hereditäre","synonyms":["HCHWA","Hereditäre zerebrale Hämorrhagie mit Amyloidose"],"definition":"Die Hereditäre zerebrale Hämorrhagie mit Amyloidose (HCHWA) beschreibt eine Gruppe seltener familiärer Störungen des zentralen Nervensystems, die durch Amyloid-Ablagerung in den Hauptblutgefäßen gekennzeichnet ist, was zu hämorrhagischen und nicht-hämorrhagischen Schlaganfällen, fokalen neurologischen Ausfällen und fortschreitendem kognitiven Abbau und schließlich zu Demenz führt."},"es":{"name":"Angiopatía amiloide cerebral hereditaria","synonyms":["HCHWA","Hemorragia cerebral hereditaria con amiloidosis"],"definition":"La hemorragia cerebral hereditaria con amiloidosis (HCHWA) describe un grupo de trastornos familiares raros del sistema nervioso central caracterizado por un depósito de amiloide en los vasos sanguíneos cerebrales que provoca ictus hemorrágicos y no hemorrágicos, déficits neurológicos focales, y un declive cognitivo progresivo que conduce finalmente a la demencia."},"it":{"name":"Angiopatia amiloide cerebrale ereditaria","synonyms":["Emorragia cerebrale ereditaria con amiloidosi","HCHWA"],"definition":"L'emorragia cerebrale ereditaria con amiloidosi (HCHWA) definisce un gruppo di malattie rare familiari del sistema nervoso centrale caratterizzato da deposizione amiloide nei vasi sanguigni cerebrali, responsabile di ictus emorragici e non emorragici, deficit neurologici focali e progressivo declino cognitivo, che esita nella demenza."},"nl":{"name":"Hereditaire cerebrale amyloïdangiopathie","synonyms":["HCHWA","Hereditaire cerebrale hemorragie met amyloïdose"],"definition":"Erfelijke cerebrale hemorragie met amyloïdose (HCHWA) beschrijft een groep zeldzame familiale aandoeningen van het centrale zenuwstelsel die worden gekarakteriseerd door afzetting van amyloïd in de bloedvaten van de hersenen, wat leidt tot beroertes met of zonder bloedingen, focale neurologische defecten, en progressieve cognitieve aftakeling die uiteindelijk resulteert in dementie."},"pt":{"name":"Angiopatia amiloide cerebral","synonyms":["Hemorragia cerebral hereditária com amiloidose"]},"pl":{"name":"Dziedziczny krwotok mózgowy z amyloidozą","synonyms":["HCHWA"]},"cs":{"name":"Hereditární mozkové krvácení s amyloidózou","synonyms":["HCHWA"]},"uk":{"name":"Церебральна амілоїдна ангіопатія","synonyms":["HCHWA","Спадковий крововилив у мозок з амілоїдозом"],"definition":"A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia."},"zh":{"name":"遗传性脑出血伴淀粉样变","synonyms":["HCHWA"]},"tr":{"name":"Amiloidoz ile seyreden kalıtsal beyin kanaması","synonyms":["HCHWA"]}},"xrefs":[{"source":"OMIM","code":"105150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"605714","qualifier":"BTNT","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},{"source":"MONDO","code":"5620","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1510489","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10266","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":69,"name":"Amyloidosis","classifications":[196]},{"orpha":477754,"name":"Genetic cerebral small vessel disease","classifications":[156,181]},{"orpha":444116,"name":"Hereditary amyloidosis","classifications":[156]},{"orpha":98549,"name":"Rare cerebrovascular dementia","classifications":[156,181]}],"children":[{"orpha":324723,"name":"ABeta amyloidosis, Arctic type","type":"Clinical subtype"},{"orpha":100006,"name":"ABeta amyloidosis, Dutch type","type":"Clinical subtype"},{"orpha":324708,"name":"ABeta amyloidosis, Iowa type","type":"Clinical subtype"},{"orpha":324713,"name":"ABeta amyloidosis, Italian type","type":"Clinical subtype"},{"orpha":324718,"name":"ABetaA21G amyloidosis","type":"Clinical subtype"},{"orpha":324703,"name":"ABetaL34V amyloidosis","type":"Clinical subtype"},{"orpha":100008,"name":"ACys amyloidosis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":100006,"name":"ABeta amyloidosis, Dutch type"}},{"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"],"via":{"orpha":324703,"name":"ABetaL34V amyloidosis"}},{"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"],"via":{"orpha":324708,"name":"ABeta amyloidosis, Iowa type"}},{"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"],"via":{"orpha":324713,"name":"ABeta amyloidosis, Italian type"}},{"symbol":"APP","name":"amyloid beta precursor protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1303239[PMID]","hgnc":"620","ensembl":"ENSG00000142192","omim":"104760","loci":["21q21.3"],"via":{"orpha":324718,"name":"ABetaA21G amyloidosis"}},{"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"],"via":{"orpha":324723,"name":"ABeta amyloidosis, Arctic type"}},{"symbol":"CST3","name":"cystatin C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"2541223[PMID]","hgnc":"2475","ensembl":"ENSG00000101439","omim":"604312","loci":["20p11.21"],"via":{"orpha":100008,"name":"ACys amyloidosis"}}],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":350.0,"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":"2024-04-12","source":"37492402[PMID]_36565446[PMID]_38344467[PMID]_29120920[PMID]","terms":[{"hpo":"HP:0011970","label":"Cerebral amyloid angiopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012520","label":"Dilation of Virchow-Robin spaces","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025714","label":"Cerebral cortical microinfarct","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030890","label":"Hyperintensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Occasional (29-5%)","criteria":null}]}}