{"entities":{"Q40066":{"pageid":30434,"ns":120,"title":"Item:Q40066","lastrevid":126293,"modified":"2026-08-13T05:43:46Z","type":"item","id":"Q40066","labels":{"mul":{"language":"mul","value":"5C52.11"},"pt-br":{"language":"pt-br","value":"Defeito na s\u00edntese de \u00e1cido biliar com colestase"},"en":{"language":"en","value":"Bile acid synthesis defect with cholestasis"}},"descriptions":{"pt-br":{"language":"pt-br","value":"As anomalias da s\u00edntese do \u00e1cido biliar s\u00e3o um grupo de dist\u00farbios do metabolismo do esterol devido a defici\u00eancias enzim\u00e1ticas da s\u00edntese do \u00e1cido biliar em beb\u00eas, crian\u00e7as e adultos, com manifesta\u00e7\u00f5es vari\u00e1veis \u200b\u200bque incluem colestase, doen\u00e7a neurol\u00f3gica e m\u00e1 absor\u00e7\u00e3o de gordura.Oito erros inatos foram identificados, 7 dos quais levam \u00e0 colestase hep\u00e1tica e incluem: defici\u00eancia de oxidoredutase de 3-beta-hidroxi-C27-ester\u00f3ide (tipo 1), defici\u00eancia de delta4-3-oxosteriode-5-beta redutase (tipo 2), defici\u00eancia de oxisterol 7alfa-hidroxilase (tipo 3), defici\u00eancia de 2-metilacil-CoA racemase (tipo 4), defici\u00eancia de \u00e1cido biliar CoA ligase e xantomatose cerebrotend\u00ednea. A defici\u00eancia de colesterol 7alfa-hidroxilase leva \u00e0 hipercolesterolemia sem colestase hep\u00e1tica."},"en":{"language":"en","value":"Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Eight inborn errors have been clearly identified, 7 of which lead to liver cholestasis and include: 3\u03b2-hydroxy-C27-steroid oxidoreductase deficiency (type 1), \u03944-3-oxosteroid 5\u03b2-reductase deficiency (type 2), oxysterol 7\u03b1-hydroxylase deficiency (type 3), 2-methylacyl-CoA racemase deficiency (type 4), bile acid CoA ligase deficiency, and cerebrotendinous xanthomatosis. Cholesterol 7\u03b1-hydroxylase deficiency leads to hypercholesterolaemia without liver cholestasis."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"610adb1ea147bc08e4a28167db5558f3dd5b1983","datavalue":{"value":"https://id.who.int/icd/entity/1295299670","type":"string"},"datatype":"url"},"type":"statement","id":"Q40066$EB766D3D-8B20-4309-89F1-B078147ABA4A","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"d01497bdf4d4152010f07ea8dd6b1824f3159acf","datavalue":{"value":"CID11:5C52.11","type":"string"},"datatype":"string"},"type":"statement","id":"Q40066$0B59524E-2AF6-4A1B-B5D1-F6A25895DCCE","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"f8f46a39e49edd14a6200255c9438c1946a71994","datavalue":{"value":"dki-india-5C52.11","type":"string"},"datatype":"string"},"type":"statement","id":"Q40066$8426911F-535C-40A7-BCC7-76CDC0449FF3","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q40066$84D59697-765F-4832-877C-CF7EADC89697","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q40066$D24A5AA0-15CD-4FC1-A2AE-D69839CFADEB","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":"Q40066$4A15E5BE-40E9-497C-9A64-DB24EF248F5F","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"a7402cbbf91ff2f1b5bfa2dae7c3b5eb7795fb4e","datavalue":{"value":{"entity-type":"item","numeric-id":15613,"id":"Q15613"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q40066$A39A163E-7AFD-4B07-A3BB-0BA81C9A5999","rank":"normal"}]},"sitelinks":{}}}}