{"entities":{"Q94039":{"pageid":84432,"ns":120,"title":"Item:Q94039","lastrevid":526746,"modified":"2026-08-16T09:09:23Z","type":"item","id":"Q94039","labels":{"mul":{"language":"mul","value":"ID_836240672"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de manosiltransferase 1"},"en":{"language":"en","value":"Mannosyltransferase 1 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 1K \u00e9 caracterizada por retardo psicomotor, convuls\u00f5es, microcefalia e anomalias de coagula\u00e7\u00e3o. Outras manifesta\u00e7\u00f5es (disfun\u00e7\u00e3o hep\u00e1tica, cardiomiopatia, s\u00edndrome nefr\u00f3tica, hipogonadismo e infec\u00e7\u00f5es graves) tamb\u00e9m podem estar presentes. Foi descrito em quatro meninos, tr\u00eas dos quais morreram no primeiro ano de vida. A s\u00edndrome est\u00e1 associada a muta\u00e7\u00f5es no gene ALG (localizado na regi\u00e3o p13.3 do cromossomo 16) levando a uma defici\u00eancia na enzima beta-1,4-manosiltransferase 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 Ik is characterised by psychomotor delay, seizures, microcephaly and coagulation anomalies. Other manifestations (hepatic dysfunction, cardiomyopathy, nephrotic syndrome, hypogonadism and severe infections) may also be present. It has been described in four boys, three of whom died within the first year of life. The syndrome is associated with mutations in the ALG gene (localised to the p13.3 region of chromosome 16) leading to a deficiency in the endoplasmic reticulum enzyme beta-1,4-mannosyltransferase."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"955e70f334a18a5b8b945d61a68f8adea3047926","datavalue":{"value":"https://id.who.int/icd/entity/836240672","type":"string"},"datatype":"url"},"type":"statement","id":"Q94039$D4F92B3E-5A04-4550-A728-D932AA216DDB","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"88a2f37d0708999885faddff1a78f23da52bb05c","datavalue":{"value":"CID11:ID_836240672","type":"string"},"datatype":"string"},"type":"statement","id":"Q94039$F92AFB30-10D1-4744-82E0-83784032C21B","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"269bdefc43ce2e3afebbbb61c5c61d4c3831fe2c","datavalue":{"value":"dki-india-ID_836240672","type":"string"},"datatype":"string"},"type":"statement","id":"Q94039$963A3B06-A752-456D-9F96-5926060AFC84","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q94039$CD6BA853-E813-4B7D-A9CB-1271AE62CC76","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":"Q94039$CFD83EBF-5AFE-4266-9C46-91B78FFEFDD1","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":"Q94039$17541733-3178-41FD-966C-1CDB08691BF1","rank":"normal"}]},"sitelinks":{}}}}