{"entities":{"Q61192":{"pageid":51565,"ns":120,"title":"Item:Q61192","lastrevid":290411,"modified":"2026-08-14T08:41:08Z","type":"item","id":"Q61192","labels":{"mul":{"language":"mul","value":"ID_307231729"},"pt-br":{"language":"pt-br","value":"Surdez-atrofia dos nervos \u00f3tico e ac\u00fastico-dem\u00eancia"},"en":{"language":"en","value":"Deafness - opticoacoustic nerve atrophy - dementia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome \u00e9 uma doen\u00e7a degenerativa generalizada do sistema nervoso central caracterizada por perda auditiva neurossensorial com in\u00edcio na inf\u00e2ncia, seguida na adolesc\u00eancia por atrofia progressiva do nervo \u00f3ptico com perda de vis\u00e3o e na idade adulta por dem\u00eancia. Foi descrito em tr\u00eas pacientes (um menino e seus dois tios maternos). \u00c9 prov\u00e1vel que seja transmitido como um tra\u00e7o recessivo ligado ao X. Uma muta\u00e7\u00e3o no gene TIMM8A (localizado em Xp22) foi identificada em um paciente."},"en":{"language":"en","value":"This syndrome is a generalised degenerative disease of the central nervous system characterised by sensorineural hearing loss with onset in infancy, followed in adolescence by progressive optic nerve atrophy with loss of vision and in adulthood by progressive dementia. It has been described in three patients (a boy and his two maternal uncles). It is likely to be transmitted as an X-linked recessive trait. A mutation in the TIMM8A gene (located at Xp22) has been identified in one patient."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"2f5e05e1acfdb4cbea29e0e1f0f5e7308a8feaf8","datavalue":{"value":"https://id.who.int/icd/entity/307231729","type":"string"},"datatype":"url"},"type":"statement","id":"Q61192$800E7E97-31A3-4EAA-991D-B1BF98B43F46","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"272154b8d70a0e69700bf0d8880114f9ed15a454","datavalue":{"value":"CID11:ID_307231729","type":"string"},"datatype":"string"},"type":"statement","id":"Q61192$7983461E-B00A-46DC-8FD7-131C9141633C","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"51297f18717fc4c4bf138fc7b2c391508f686971","datavalue":{"value":"dki-india-ID_307231729","type":"string"},"datatype":"string"},"type":"statement","id":"Q61192$8AFA57CF-B01C-472C-9845-6A70C1E3CD52","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q61192$6447D09C-7EC9-4BFF-84DB-58387AA14DAF","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q61192$B524DC3F-D8FC-41E6-95B9-EDB3D6B4955D","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":"Q61192$BAFC385E-BF89-469F-877F-4B68C31EE7F3","rank":"normal"}]},"sitelinks":{}}}}