{"orpha":69,"name":"Amyloidosis","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A vast group of rare systemic diseases characterized by the presence of insoluble fibrillar protein deposits in tissues. Amyloidoses are classified according to biochemical type of amyloid protein involved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-69/","orphanet_url":"https://www.orpha.net/en/disease/detail/69","names":{"fr":{"name":"Amylose","synonyms":["Amyloïdose"],"definition":"Vaste groupe de maladies systémiques rares caractérisées par la présence de dépôts de protéines fibrillaires insolubles dans les tissus. La classification des amyloses repose sur la nature biochimique de la protéine amyloïde impliquée."},"de":{"name":"Amyloidose","definition":"Eine große Gruppe seltener Systemerkrankungen, die durch das Vorhandensein von unlöslichen fibrillären Proteinablagerungen im Gewebe gekennzeichnet sind. Amyloidosen werden nach dem biochemischen Typ des beteiligten Amyloidproteins klassifiziert."},"es":{"name":"Amiloidosis","definition":"Es un grupo amplio de enfermedades sistémicas poco frecuentes caracterizado por la presencia de depósitos de proteínas fibrilares insolubles en los tejidos. Las amiloidosis se clasifican según el tipo bioquímico de proteína amiloide involucrada."},"it":{"name":"Amiloidosi"},"nl":{"name":"Amyloïdose","definition":"Een grote groep van zeldzame systemische aandoeningen, gekenmerkt door de aanwezigheid van onoplosbare fibrillaire eiwitafzettingen in weefsels. Amyloïdosen worden geclassificeerd volgens biochemisch type van amyloïd proteïne dat betrokken is."},"pt":{"name":"Amiloidose","definition":"Vasto grupo de doenças sistémicas raras caracterizadas pela presença de depósitos de proteínas fibrilares insolúveis nos tecidos. As amiloidoses são classificadas de acordo com o tipo bioquímico da proteína amiloide envolvida."},"pl":{"name":"Amyloidoza"},"cs":{"name":"Amyloidóza"},"uk":{"name":"Амілоїдоз","definition":"A vast group of rare systemic diseases characterized by the presence of insoluble fibrillar protein deposits in tissues. Amyloidoses are classified according to biochemical type of amyloid protein involved."},"zh":{"name":"淀粉样变性"},"tr":{"name":"Amiloidoz"}},"xrefs":[{"source":"ICD-10","code":"E85.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5D00","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2078467774"},{"source":"MONDO","code":"0019065","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19065","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D000686","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0002726","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10002022","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[{"orpha":85445,"name":"AA amyloidosis","type":"Disease"},{"orpha":439232,"name":"AApoAIV amyloidosis","type":"Disease"},{"orpha":439246,"name":"ABeta2M amyloidosis","type":"Clinical group"},{"orpha":85448,"name":"AGel amyloidosis","type":"Disease"},{"orpha":442582,"name":"AH amyloidosis","type":"Disease"},{"orpha":85443,"name":"AL amyloidosis","type":"Disease"},{"orpha":439224,"name":"ALECT2 amyloidosis","type":"Disease"},{"orpha":271861,"name":"Hereditary ATTR amyloidosis","type":"Disease"},{"orpha":85450,"name":"Hereditary amyloidosis with primary renal involvement","type":"Disease"},{"orpha":85458,"name":"Hereditary cerebral amyloid angiopathy","type":"Disease"},{"orpha":439254,"name":"ITM2B amyloidosis","type":"Disease"},{"orpha":330001,"name":"Wild type ATTR amyloidosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.91,"area":"Korea, Republic of","status":"Validated","source":"28877709[PMID]"}],"phenotypes":null}