{"entities":{"Q94035":{"pageid":84428,"ns":120,"title":"Item:Q94035","lastrevid":526714,"modified":"2026-08-16T09:09:08Z","type":"item","id":"Q94035","labels":{"mul":{"language":"mul","value":"ID_603963810"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de glucosiltransferase 1"},"en":{"language":"en","value":"Glucosyltransferase 1 deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"As s\u00edndromes CDG (doen\u00e7as cong\u00eanitas 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 Ic \u00e9 caracterizada por retardo psicomotor e hipotonia muscular. Ela foi descrita em mais de 30 indiv\u00edduos at\u00e9 agora. Manifesta\u00e7\u00f5es hep\u00e1ticas e intestinais tamb\u00e9m foram frequentemente relatadas. Anomalias de coagula\u00e7\u00e3o, anormalidades hormonais e convuls\u00f5es tamb\u00e9m podem estar presentes, \u00e0s vezes sendo fatais. A s\u00edndrome \u00e9 causada por muta\u00e7\u00f5es no gene ALG6 (localizado na regi\u00e3o q22.3 do cromossomo 1), levando a uma defici\u00eancia da enzima alfa1,3-glucosiltransferase do ret\u00edculo endoplasm\u00e1tico."},"en":{"language":"en","value":"The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ic is characterised by psychomotor delay and muscular hypotonia. It has been described in more than 30 individuals so far. Hepatic and intestinal manifestations were also often reported. Coagulation anomalies, hormonal abnormalities and seizures may also be present and life-threatening. The syndrome is caused by mutations in the ALG6 gene (localised to the q22.3 region of chromosome 1) leading to a deficiency of the endoplasmic reticulum enzyme alpha1,3-glucosyltransferase."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"c11d7e17934d57a42bec10cb7bde9a2c379e17d2","datavalue":{"value":"https://id.who.int/icd/entity/603963810","type":"string"},"datatype":"url"},"type":"statement","id":"Q94035$19F97107-D857-4E7E-B238-C8E92CDED172","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"a0c52748978bc28f2d4b2fa4c67ce9c34d2c2e03","datavalue":{"value":"CID11:ID_603963810","type":"string"},"datatype":"string"},"type":"statement","id":"Q94035$A3B2B23D-A175-4467-A548-F909EC5A78D8","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"5f125f146964155e052e49b654e8410778154e18","datavalue":{"value":"dki-india-ID_603963810","type":"string"},"datatype":"string"},"type":"statement","id":"Q94035$CC5624A2-0635-403D-83AE-E02710CF75D2","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94035$64807DFE-C41C-4307-AF34-69F8B6BC7C7D","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q94035$D7919B25-CC86-4D03-805F-0F5D97C5F569","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":"Q94035$27524393-48E1-4E18-A9C1-B60133D6CE7B","rank":"normal"}]},"sitelinks":{}}}}