{"entities":{"Q94050":{"pageid":84443,"ns":120,"title":"Item:Q94050","lastrevid":526831,"modified":"2026-08-16T09:10:04Z","type":"item","id":"Q94050","labels":{"mul":{"language":"mul","value":"ID_650208613"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de N-acetilglucosaminil transferase"},"en":{"language":"en","value":"N-acetylglucosaminyltransferase 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 2A \u00e9 caracterizada por grave retardo psicomotor, retardo de crescimento p\u00f3s-natal, dismorfologia facial e tend\u00eancia ao sangramento. Foi descrito em quatro crian\u00e7as. A s\u00edndrome est\u00e1 associada a muta\u00e7\u00f5es no gene MGAT2 (localizado na regi\u00e3o q21 do cromossomo 14) levando a uma defici\u00eancia na enzima do aparelho de Golgi, N-acetilglucosaminil transferase (GlcNAc-T II)."},"en":{"language":"en","value":"The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIa is characterised by severe psychomotor delay, postnatal growth retardation, facial dysmorphology and bleeding tendency. It has been described in four children. The syndrome is associated with mutations in the MGAT2 gene (localised to the q21 region of chromosome 14) leading to a deficiency in the Golgi apparatus enzyme, N-acetylglucosaminyl transferase (GlcNAc-T II)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"10d3614df141c413fa8c32a8e19ac23ec532f096","datavalue":{"value":"https://id.who.int/icd/entity/650208613","type":"string"},"datatype":"url"},"type":"statement","id":"Q94050$BEF3EC0D-ECBD-4680-832D-9E37BF3B7349","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"3592184c1a3a551743189be4272c1155119a773c","datavalue":{"value":"CID11:ID_650208613","type":"string"},"datatype":"string"},"type":"statement","id":"Q94050$4F43200E-C7AB-4DD5-9C57-F993A3FFE258","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"8719b924f79dea1ac023f0bc2e08e8bf1597fb23","datavalue":{"value":"dki-india-ID_650208613","type":"string"},"datatype":"string"},"type":"statement","id":"Q94050$7782D064-16E8-4069-A963-37A9372BDE8E","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94050$679638F1-1133-4240-8F3C-BA5CFAB85850","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q94050$BB1A799C-A1E0-4F3C-8796-FF5782CC5365","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":"Q94050$8A84352E-FFA7-434B-958D-F6111A3EDA6B","rank":"normal"}]},"sitelinks":{}}}}