{"entities":{"Q94033":{"pageid":84426,"ns":120,"title":"Item:Q94033","lastrevid":526698,"modified":"2026-08-16T09:08:58Z","type":"item","id":"Q94033","labels":{"mul":{"language":"mul","value":"ID_1039779684"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de glucosiltransferase 2"},"en":{"language":"en","value":"Glucosyltransferase 2 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 1H \u00e9 caracterizada por graves manifesta\u00e7\u00f5es gastrointestinais, edema, hepatomegalia, hipoalbuminemia, tubulopatia renal e anomalias de coagula\u00e7\u00e3o. Foi descrito em cinco crian\u00e7as. O dismorfismo facial estava presente nos pacientes mais gravemente afetados. Catarata e osteopenia \u00e0s vezes tamb\u00e9m estavam presentes. A s\u00edndrome est\u00e1 associada a muta\u00e7\u00f5es no gene ALG8 (localizado na regi\u00e3o pter-p15.5 no cromossomo 11) levando a uma defici\u00eancia na enzima alfa-3-glucosil transferase 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 Ih is characterised by severe gastrointestinal manifestations, oedema, hepatomegaly, hypoalbuminaemia, a renal tubulopathy and coagulation anomalies. It has been described in five children. Facial dysmorphism was present in the more severely affected patients. Cataract and osteopaenia were also sometimes present. The syndrome is associated with mutations in the ALG8 gene (localised to the pter-p15.5 region on chromosome 11) leading to a deficiency in the endoplasmic reticulum enzyme alpha-3-glucosyl transferase."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"157d620a4014a8f773e9e3856785d7bd27c66473","datavalue":{"value":"https://id.who.int/icd/entity/1039779684","type":"string"},"datatype":"url"},"type":"statement","id":"Q94033$D248E340-2B42-40C5-AC0B-CA602175A0AB","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"80733d0a7140a189210f2536c7898f0bb9e6b025","datavalue":{"value":"CID11:ID_1039779684","type":"string"},"datatype":"string"},"type":"statement","id":"Q94033$B45D012C-AB2F-414C-8808-54600CC411F5","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"54643ad6e4451d52b2d03b3a241ff23b78ee04fa","datavalue":{"value":"dki-india-ID_1039779684","type":"string"},"datatype":"string"},"type":"statement","id":"Q94033$D177D801-44FF-47C0-9BEF-92225BA12534","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94033$5F31581C-88C7-414B-9037-392B7D2341B8","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":"Q94033$10816AD8-CCB2-4838-BCEB-F13607B303B5","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":"Q94033$8E9874D6-8AB6-49AF-A0AF-C824632640BE","rank":"normal"}]},"sitelinks":{}}}}