{"entities":{"Q94048":{"pageid":84441,"ns":120,"title":"Item:Q94048","lastrevid":526816,"modified":"2026-08-16T09:09:54Z","type":"item","id":"Q94048","labels":{"mul":{"language":"mul","value":"ID_409877897"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de dolicil-fosfato N-acetilglicosamina fosfotransferase."},"en":{"language":"en","value":"Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"As s\u00edndromes CDG (dist\u00farbios cong\u00eanitos de glicosila\u00e7\u00e3o) s\u00e3o um grupo de doen\u00e7as autoss\u00f4micas recessivas que afetam a s\u00edntese de glicoprote\u00ednas. A s\u00edndrome CDG tipo 1J \u00e9 caracterizada por atraso psicomotor grave, convuls\u00f5es, hipotonia e dismorfismo (microcefalia, exotropia ocular, micrognatia e clinodactilia). At\u00e9 o momento, foi relatado em uma menina. A s\u00edndrome \u00e9 causada por uma muta\u00e7\u00e3o no gene (localizado na regi\u00e3o q23.3 do cromossomo 11) que codifica a enzima do ret\u00edculo endoplasm\u00e1tico UDP-GlcNAc: dolicil-fosfato N-acetilglucosamina fosfotransferase (DPAGT1)."},"en":{"language":"en","value":"The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ij is characterised by severe psychomotor delay, seizures, hypotonia and dysmorphism (microcephaly, ocular exotropia, micrognathia and clinodactyly). To date, it has been reported in one girl. The syndrome is caused by a mutation in the gene (localised to the q23.3 region of chromosome 11) encoding the endoplasmic reticulum enzyme UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase (DPAGT1)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"6d316b789688a1f42691f1e392f0bb7f07b0162a","datavalue":{"value":"https://id.who.int/icd/entity/409877897","type":"string"},"datatype":"url"},"type":"statement","id":"Q94048$A2DA76EC-3863-44E7-A74C-098209A52EB0","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"71e166ba970ccb2798fb149123e009b435168d82","datavalue":{"value":"CID11:ID_409877897","type":"string"},"datatype":"string"},"type":"statement","id":"Q94048$C0A6A2BE-40D8-4684-9D84-52991EE7AEFA","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"2e7537c1e02b6eaddbdef318c8996008b730ec54","datavalue":{"value":"dki-india-ID_409877897","type":"string"},"datatype":"string"},"type":"statement","id":"Q94048$A5C1539C-744F-481D-B04F-2B67075C0D8F","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94048$9AEACCAB-A7B5-487B-BBB5-D89E0D4CE32B","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":"Q94048$10382130-3283-4005-B5CB-660DA262F891","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q94048$BB5E51F6-C7D0-4D1D-B4F8-A35A09B87AC6","rank":"normal"}]},"sitelinks":{}}}}