{"entities":{"Q90011":{"pageid":80398,"ns":120,"title":"Item:Q90011","lastrevid":498062,"modified":"2026-08-15T16:57:03Z","type":"item","id":"Q90011","labels":{"mul":{"language":"mul","value":"ID_561449953"},"pt-br":{"language":"pt-br","value":"Defici\u00eancia de dolicol-fosfato-manose sintetase 1"},"en":{"language":"en","value":"Dolichol-phosphate-mannose synthase 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 1E \u00e9 caracterizada por retardo psicomotor, convuls\u00f5es, hipotonia, dismorfismo facial e microcefalia. As anomalias oculares tamb\u00e9m s\u00e3o muito comuns. A s\u00edndrome foi descrita em sete crian\u00e7as. \u00c9 causada por muta\u00e7\u00f5es no gene DPM (localizado na regi\u00e3o q13.13 do cromossomo 20) levando a uma defici\u00eancia na enzima do ret\u00edculo endoplasm\u00e1tico dolicol-P-manose sintase 1."},"en":{"language":"en","value":"The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. The syndrome has been described in seven children. It is caused by mutations in the DPM gene (localised to the q13.13 region of chromosome 20) leading to a deficiency in the endoplasmic reticulum enzyme dolichol-P-mannose synthase 1."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"24ee345badd2a7f01902ccd34d89acb0ae2e5f32","datavalue":{"value":"https://id.who.int/icd/entity/561449953","type":"string"},"datatype":"url"},"type":"statement","id":"Q90011$FE562EFF-81E2-4E95-B8EA-43FD87F5EF00","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"4733b6b3e0e17cbf464756308391aa3e58bbbf20","datavalue":{"value":"CID11:ID_561449953","type":"string"},"datatype":"string"},"type":"statement","id":"Q90011$C240E332-A7AC-431C-8EC2-1F4127622E4F","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"272b5380d76fada5703204d7b471caa123712e87","datavalue":{"value":"dki-india-ID_561449953","type":"string"},"datatype":"string"},"type":"statement","id":"Q90011$737EAD4C-4AD8-4F48-B872-04CD899402D5","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q90011$84519563-FF5D-4906-91A0-35C8CA5360A8","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q90011$D149700D-E328-4B9C-B12E-DC79771A446D","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q90011$2BBA24C4-E9FF-4A14-87FD-8BAF7D419DB5","rank":"normal"}]},"sitelinks":{}}}}