{"entities":{"Q94034":{"pageid":84427,"ns":120,"title":"Item:Q94034","lastrevid":526706,"modified":"2026-08-16T09:09:03Z","type":"item","id":"Q94034","labels":{"mul":{"language":"mul","value":"ID_160861812"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de manosiltransferase 8"},"en":{"language":"en","value":"Mannosyltransferase 8 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 dist\u00farbios autoss\u00f4micos recessivos que afetam a s\u00edntese de glicoprote\u00ednas. A s\u00edndrome CDG tipo 1G \u00e9 caracterizada por retardo psicomotor, hipotonia, dismorfismo facial, defici\u00eancia de crescimento e anomalias de coagula\u00e7\u00e3o. Foi descrito em seis crian\u00e7as. Hipoplasia genital em homens e infec\u00e7\u00f5es recorrentes, provavelmente associadas a uma diminui\u00e7\u00e3o nos n\u00edveis de imunoglobulina G, tamb\u00e9m foram relatadas em alguns dos pacientes. A s\u00edndrome est\u00e1 associada a muta\u00e7\u00f5es no gene ALG12 (localizado no cromossomo 22), levando a uma defici\u00eancia na enzima alfa-1,6-manosil 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 Ig is characterised by psychomotor delay, hypotonia, facial dysmorphism, failure to thrive and coagulation anomalies. It has been described in six children. Genital hypoplasia in the males and recurrent infections, probably associated with a decrease in immunoglobulin G levels, were also reported in some of the patients. The syndrome is associated with mutations in the ALG12 gene (localised to chromosome 22) leading to a deficiency in the endoplasmic reticulum enzyme alpha-1,6-mannosyl transferase."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"edf1494ba961064a4fc7dddc611d32043f64e6d8","datavalue":{"value":"https://id.who.int/icd/entity/160861812","type":"string"},"datatype":"url"},"type":"statement","id":"Q94034$59B98826-033C-4F80-8360-00B32A18DCF3","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"91d7057d55167877f89351789716f7987dbf065d","datavalue":{"value":"CID11:ID_160861812","type":"string"},"datatype":"string"},"type":"statement","id":"Q94034$D0D30BB8-5153-4661-8330-D5BBC937FD7A","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"c5d2cc23031ee0195fb648d1d797754503d67dbe","datavalue":{"value":"dki-india-ID_160861812","type":"string"},"datatype":"string"},"type":"statement","id":"Q94034$F7A4CF75-48F2-43B8-BD4C-F939F2E053D8","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94034$B5E4EFFB-2F50-41DC-B7FA-AFB313028419","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":"Q94034$2295980C-1264-4A05-88A5-CD62A616A323","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":"Q94034$656B9D96-70B8-46C4-BC6A-2780796C7455","rank":"normal"}]},"sitelinks":{}}}}