{"entities":{"Q97268":{"pageid":87661,"ns":120,"title":"Item:Q97268","lastrevid":550107,"modified":"2026-08-16T13:21:50Z","type":"item","id":"Q97268","labels":{"mul":{"language":"mul","value":"ID_1743854054"},"pt-br":{"language":"pt-br","value":"Oftalmoplegia externa progressiva, autoss\u00f4mica dominante, tipo 1"},"en":{"language":"en","value":"Progressive external ophthalmoplegia, autosomal dominant, type 1"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Oftalmoplegia externa progressiva autoss\u00f4mica dominante com dele\u00e7\u00f5es-1 do DNA mitocondrial (PEOA1) \u00e9 causada pela muta\u00e7\u00e3o no gene DNA polimerase-gama (POLG; 17763) no cromossomo 15q25. As caracter\u00edsticas cl\u00ednicas mais comuns incluem in\u00edcio na idade adulta de fraqueza dos m\u00fasculos externos do olho e intoler\u00e2ncia ao exerc\u00edcio. Sintomas adicionais s\u00e3o vari\u00e1veis e podem incluir catarata, perda auditiva, neuropatia sensorial axonal, ataxia, depress\u00e3o, hipogonadismo e parkinsonismo. Oftalmoplegia externa progressiva causada pela muta\u00e7\u00e3o no gene POLG \u00e9 associada com fen\u00f3tipos mais complicados que as formas causadas pela muta\u00e7\u00e3o nos genes ANT1 e C10ORF2."},"en":{"language":"en","value":"Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-1 (PEOA1) is caused by mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG; 174763) on chromosome 15q25. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Progressive external ophthalmoplegia caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"277ddfa5c416ba9b35bd51cf938fcb9cd2224dab","datavalue":{"value":"https://id.who.int/icd/entity/1743854054","type":"string"},"datatype":"url"},"type":"statement","id":"Q97268$53A679F6-9308-4027-92CF-180C5BABAD77","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"2825d8faeee258982e7cfc98f6b126c94fec683d","datavalue":{"value":"CID11:ID_1743854054","type":"string"},"datatype":"string"},"type":"statement","id":"Q97268$1ECA460F-B45D-48C9-8B65-A33EE9FC22AF","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"473092b40882842aa9292109cc8230634a93b57a","datavalue":{"value":"dki-india-ID_1743854054","type":"string"},"datatype":"string"},"type":"statement","id":"Q97268$7AC25D7A-E1B9-4CB2-B84C-5FD04F65135B","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q97268$AAAFE756-DB8C-49F1-948E-2FE00E6FD3F4","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":"Q97268$FC566E5A-3185-4D0F-89CD-4FD08CA42C0D","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q97268$F7527655-AE74-4D7A-AE8C-2D6E322C2778","rank":"normal"}]},"sitelinks":{}}}}