{"entities":{"Q90631":{"pageid":81022,"ns":120,"title":"Item:Q90631","lastrevid":502558,"modified":"2026-08-15T17:37:06Z","type":"item","id":"Q90631","labels":{"mul":{"language":"mul","value":"ID_821512398"},"pt-br":{"language":"pt-br","value":"Cardiomiopatia amiloide familiar relacionada \u00e0 transtiretina"},"en":{"language":"en","value":"Transthyretin-related familial amyloid cardiomyopathy"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A cardiomiopatia amiloide familiar relacionada \u00e0 transtirretina (TTR) \u00e9 uma amiloidose sist\u00eamica heredit\u00e1ria relacionada \u00e0 TTR com envolvimento card\u00edaco predominante resultante da infiltra\u00e7\u00e3o mioc\u00e1rdica de prote\u00edna amiloide anormal (uma prote\u00edna fibrilar insol\u00favel). Informa\u00e7\u00f5es adicionais: o gene TTR no cromossomo 18q12.1 abrange mais de 100 polimorfismos de nucleot\u00eddeo \u00fanico com mais de 80 muta\u00e7\u00f5es patog\u00eanicas autoss\u00f4micas dominantes confirmadas e grupos geogr\u00e1ficos e / ou \u00e9tnicos. O fen\u00f3tipo cl\u00ednico varia muito com a muta\u00e7\u00e3o, idade de in\u00edcio, penetr\u00e2ncia da doen\u00e7a, curso cl\u00ednico e progn\u00f3stico. As manifesta\u00e7\u00f5es extracard\u00edacas incluem neuropatia sensorial, disfun\u00e7\u00e3o auton\u00f4mica e s\u00edndrome do t\u00fanel do carpo."},"en":{"language":"en","value":"Transthyretin (TTR)-related familial amyloid cardiomyopathy is a hereditary TTR-related systemic amyloidosis with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein (an insoluble fibrillar protein).  Additional information. The TTR gene on chromosome 18q12.1 encompasses over 100 single nucleotide polymorphisms with over 80 confirmed pathogenic autosomal dominant mutations and geographic and-or ethnic groupings. The clinical phenotype varies greatly with the mutation, the age of onset, disease penetrance, clinical course, and prognosis. Extracardiac manifestations include sensory neuropathy, autonomic dysfunction, and carpal tunnel syndrome."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"ae94fc41ef8eb1cbf8e3fa03912c910891f2516e","datavalue":{"value":"https://id.who.int/icd/entity/821512398","type":"string"},"datatype":"url"},"type":"statement","id":"Q90631$867CA905-7330-44AF-8E15-6A9BFA25F85C","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"667a4804fe989ac73dcf7dfa737d535b391c0e30","datavalue":{"value":"CID11:ID_821512398","type":"string"},"datatype":"string"},"type":"statement","id":"Q90631$3C54D20E-FDA6-4F2A-A170-2FE47886F801","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"4409dd08fa53ad0e82b1a0768d1339857eb92467","datavalue":{"value":"dki-india-ID_821512398","type":"string"},"datatype":"string"},"type":"statement","id":"Q90631$BE6CB144-6D92-43DD-874B-D3440668495D","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q90631$53657EC6-9A03-465E-9953-9252A9104DAC","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q90631$49606224-1C48-4FE2-BC0A-5DD2AD399DF0","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q90631$8639615C-F7A9-4BB6-B81C-9449E627A12E","rank":"normal"}]},"sitelinks":{}}}}