{"entities":{"Q88698":{"pageid":79083,"ns":120,"title":"Item:Q88698","lastrevid":488473,"modified":"2026-08-15T15:05:08Z","type":"item","id":"Q88698","labels":{"mul":{"language":"mul","value":"ID_631318078"},"pt-br":{"language":"pt-br","value":"Lipodistrofia cong\u00eanita generalizada com miopatia"},"en":{"language":"en","value":"Generalised congenital lipodystrophy with myopathy"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Lipodistrofia cong\u00eanita generalizada \u00e9 uma doen\u00e7a autoss\u00f4mica recessiva rara, caracterizada pela aus\u00eancia quase completa de tecido adiposo ao nascimento ou durante a primeira inf\u00e2ncia. As principais manifesta\u00e7\u00f5es cl\u00ednicas s\u00e3o hipertrofia muscular generalizada e, consequentemente, uma apar\u00eancia marcantemente muscular, resist\u00eancia \u00e0 insulina grave e hipertrigliceridemia. Outras manifesta\u00e7\u00f5es incluem acantose nigricans, hepatomegalia devida a esteatose hep\u00e1tica, esplenomegalia, incapacidade intelectual e cardiomiopatia hipertr\u00f3fica e m\u00faltiplas les\u00f5es l\u00edticas focais nos ossos apendiculares. A lipodistrofia cong\u00eanita generalizada tem sido associada a variantes em quatro genes, causando quatro fen\u00f3tipos diferentes com algumas manifesta\u00e7\u00f5es cl\u00ednicas sobrepostas."},"en":{"language":"en","value":"Congenital generalised lipodystrophy is a rare autosomal recessive disease, characterised by almost complete absence of adipose tissue at birth or during early infancy. Main clinical features are generalised muscular hypertrophy and consequently a markedly muscular appearance, severe insulin resistance and hypertriglyceridaemia. Other manifestations include acanthosis nigricans, hepatomegaly due to hepatic steatosis, splenomegaly, intellectual disability and hypertrophic cardiomyopathy, and multiple focal lytic lesions in the appendicular bones. Congenital generalised lipodystrophy has been linked with variants in four genes, causing four different phenotypes with some overlapping clinical manifestations."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"0ee4bcb0c59509a1047eb0c2e9ebc05589817a19","datavalue":{"value":"https://id.who.int/icd/entity/631318078","type":"string"},"datatype":"url"},"type":"statement","id":"Q88698$9FC73D0B-07D9-403E-BF5B-3A0056E4049C","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"ca25e1d7548f75f2c3d38be8db7e07c76fc41f49","datavalue":{"value":"CID11:ID_631318078","type":"string"},"datatype":"string"},"type":"statement","id":"Q88698$644A3542-557F-424A-BEF0-DA6CC00E4FFF","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"bd9adaf518632fd28ca679800d7d6eecfd5cf1bf","datavalue":{"value":"dki-india-ID_631318078","type":"string"},"datatype":"string"},"type":"statement","id":"Q88698$E67410D0-DA58-47DE-B6EA-8C98346C21AD","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q88698$BE823E84-D038-4A50-AD4D-EB9BDBEA8149","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":"Q88698$3490B061-158F-4984-BD58-513C76074C61","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q88698$B9E9ACBA-3B5C-4373-A62F-56FE24D09D3C","rank":"normal"}]},"sitelinks":{}}}}