{"orpha":100008,"name":"ACys amyloidosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CST3-related amyloidosis","Cystatin amyloidosis","HCHWA, Icelandic type","Hereditary cerebral hemorrhage with amyloidosis, Icelandic type","Hereditary cystatin C amyloid angiopathy"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the <i>CST3</i> gene (20p11.2), encoding the precursor protein cystatin C.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100008/","orphanet_url":"https://www.orpha.net/en/disease/detail/100008","names":{"fr":{"name":"Amylose ACys","synonyms":["Amylose associée à CST3","Amylose à cystatine","Angiopathie amyloïde héréditaire à la cystatine C","HCHWA type islandais","Hémorragie cérébrale héréditaire avec amylose type islandais"],"definition":"Forme d'hémorragie cérébrale héréditaire avec amyloïdose se manifestant entre 20 et 30 ans, caractérisée par une amylose systémique majeure et des hémorragies intracérébrales lobaires récurrentes. Contrairement aux autres formes d'hémorragie cérébrale héréditaire avec amylose, ce sous-type est dû à une mutation du gène <i>CST3</i> (20p11.2), codant pour la protéine précurseur de la cystatine C."},"de":{"name":"ACys-Amyloidose","synonyms":["Amyloidose, CST3-assoziierte","Cystatin-Amyloidose","HCHWA vom isländischen Typ","Hereditäre Cystatin-C-Amyloidangiopathie","Zerebrale Hämorrhagie mit Amyloidose, hereditäre, isländischer Typ"],"definition":"Eine Form der hereditären Hirnblutung mit Amyloidose, die durch ein Manifestationsalter von 20-30 Jahren, eine schwere systemische Amyloidose und rezidivierende lobäre intrazerebrale Blutungen gekennzeichnet ist. Im Gegensatz zu anderen Formen der hereditären Hirnblutung mit Amyloidose ist dieser Subtyp auf eine Mutation im <i>CST3</i>-Gen (20p11.2) zurückzuführen, das für das Vorläuferprotein Zystatin C kodiert."},"es":{"name":"Amiloidosis ACys","synonyms":["Amiloidosis asociada a CST3","Amiloidosis por cistatina","Angiopatía amiloide hereditaria por cistatina C","HCHWA tipo islandés","Hemorragia cerebral hereditaria con amiloidosis tipo islandés"],"definition":"Es una forma de hemorragia cerebral hereditaria con amiloidosis caracterizada por presentarse entre los 20-30 años de edad, amiloidosis sistémica principal y hemorragias intracerebrales lobares recurrentes. A diferencia de otras formas de hemorragia cerebral hereditaria con amiloidosis, este subtipo se debe a una mutación en el gen <i>CST3</i> (20p11.2), que codifica el precursor de la proteína cistatina C."},"it":{"name":"Amiloidosi ACys","synonyms":["Amiloidosi CST3-correlata","Amiloidosi da cistatina","Angiopatia amiloide ereditaria da cistatina C","Emorragia cerebrale ereditaria con amiloidosi, tipo islandese","HCHWA, tipo islandese"],"definition":"L'emorragia cerebrale ereditaria con amiloidosi (HCHWA) tipo islandese è una forma di HCHWA (si veda questo termine), caratterizzata da un esordio a 20-30 anni, amiloidosi sistemica ed emorragie intracerebrali lobari."},"nl":{"name":"ACys-amyloïdose","synonyms":["CST3-gerelateerde amyloïdose","Cystatine-amyloïdose","Erfelijke cerebrale hemorragie met amyloïdose, IJslands type","Erfelijke cystatine C amyloïde angiopathie","HCHWA, Ijslands type"],"definition":"Een vorm van hereditaire cerebrale hemorragie met amyloïdose, gekarakteriseerd door een aanvangsleeftijd tussen 20-30 jaar, ernstige systemische amyloïdose, en recidiverende lobaire intracerebrale hemorragie. In tegenstelling tot andere vormen van hereditaire cerebrale hemorragie met amyloïdose wordt dit subtype veroorzaakt door een mutatie in het gen <i>CST3</i> (20p11.2), dat codeert voor cystatine C voorlopereiwit."},"pt":{"name":"Hemorragia cerebral com amiloidose, hereditária, tipo islandês"},"pl":{"name":"Amyloidoza ACys","synonyms":["Amyloidoza cystatynowa","Amyloidoza zależna od CST3","Dziedziczna angiopatia amyloidowa zależna od cystatyny C","Dziedziczny krwotok mózgowy z amyloidozą, typ islandzki","HCHWA, typ islandzki"]},"cs":{"name":"Amyloidová angiopatie islandského typu","synonyms":["CST3-vázaná amyloidóza","Cystatinová amyloidóza","HCHWA, Islandský typ","Dědičná cerebrální hemoragie s amyloidózou, islandský typ","Dědičná cystatinová C amyloidní angiopatie"]},"uk":{"name":"Амілоїдоз ACys","synonyms":["Амілоїдоз, повязаний з CST3","Цистатиновий амілоїдоз","HCHWA, ісландський тип","Спадковий крововилив у мозок з амілоїдозом, ісландський тип","Спадкова амілоїдна ангіопатія з цистатином С"],"definition":"A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the <i>CST3</i> gene (20p11.2), encoding the precursor protein cystatin C."},"zh":{"name":"ABeta淀粉样变性病","synonyms":["冰岛型遗传性脑出血合并淀粉样变性"],"definition":"HHWA的一种形式，以20-30岁的发病年龄、系统性淀粉样变性和反复大叶脑出血为特征。"},"tr":{"name":"ACys amiloidoz","synonyms":["Sistatin amiloidoz","HCHWA, İzlanda tipi","CST3-ilişkili amiloidoz","Kalıtsal sistatin C amiloid anjiyopati","Amiloidozlu kalıtsal beyin kanaması, İzlanda tipi"]}},"xrefs":[{"source":"OMIM","code":"105150","qualifier":"E","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":"1349991114"},{"source":"MONDO","code":"0007098","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1527338","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":"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":9.0,"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:0011970","label":"Cerebral amyloid angiopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011034","label":"Amyloidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100613","label":"Death in early adulthood","frequency":"Occasional (29-5%)","criteria":null}]}}