{"entities":{"Q40098":{"pageid":30466,"ns":120,"title":"Item:Q40098","lastrevid":126589,"modified":"2026-08-13T05:46:33Z","type":"item","id":"Q40098","labels":{"mul":{"language":"mul","value":"5C81.1"},"pt-br":{"language":"pt-br","value":"Hipobetalipoproteinemia"},"en":{"language":"en","value":"Hypobetalipoproteinaemia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A hipobetalipoproteinemia constitui um grupo de transtornos do metabolismo das lipoprote\u00ednas que se caracterizam por n\u00edveis permanentemente baixos (abaixo do 5\u00ba percentil) de apolipoprote\u00edna B e colesterol LDL. Existem dois tipos de HBL: hipobetalipoproteinemia familiar e doen\u00e7a de reten\u00e7\u00e3o de quilom\u00edcrons. A forma familiar pode ser grave com in\u00edcio precoce (abetalipoproteinemia/hipobetalipoproteinemia familiar homozig\u00f3tica) ou benigna (hipobetalipoproteinemia familiar benigna). hipobetalipoproteinemia familiar grave e a doen\u00e7a de reten\u00e7\u00e3o de quilomicrons aparecem na primeira inf\u00e2ncia ou na inf\u00e2ncia. Como resultado, eles s\u00e3o frequentemente associados a retardo de crescimento, diarreia com esteatorreia e m\u00e1 absor\u00e7\u00e3o de gordura. A hipobetalipoproteinemia familiar benigna \u00e9 geralmente assintom\u00e1tica, mas em adultos est\u00e1 ocasionalmente associada \u00e0 intoler\u00e2ncia alimentar \u00e0 gordura. Os dist\u00farbios da hipobetaliporoteinemia s\u00e3o causados \u200b\u200bpor muta\u00e7\u00f5es em prote\u00ednas envolvidas na s\u00edntese, secre\u00e7\u00e3o e catabolismo de lipoprote\u00ednas contendo apolipoprote\u00edna B (LDL, VLDL e quilom\u00edcrons)."},"en":{"language":"en","value":"Hypobetalipoproteinemia (HBL) constitutes a group of lipoprotein metabolism disorders that are characterised by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. There are two types of HBL: familial hypobetalipoproteinemia and chylomicron retention disease (CMRD; see these terms). The familial form can be severe with early onset (abetalipoproteinemia/homozygous familial hypobetalipoproteinemia; see this term) or benign (benign familial hypobetalipoproteinemia; see this term). (Please add the sentence). Severe familial HBL and CMRD appear in infancy or childhood. As a result they are often associated with growth delay, diarrhoea with steatorrhoea, and fat malabsorption. Benign familial hypobetalipoproteinemia is generally asymptomatic, but in adults is occasionally associated with dietary intolerance to fat. HBL disorders are caused by mutations in proteins involved in the synthesis, secretion and catabolism of lipoproteins containing apolipoprotein B (LDL, VLDL and chylomicrons)."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"6ca6207f931bf259d31104fdaea59875bf618d06","datavalue":{"value":"https://id.who.int/icd/entity/1934975006","type":"string"},"datatype":"url"},"type":"statement","id":"Q40098$9E154991-6E9F-48B7-B3DA-DB24C9D91BD4","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"6843b6e9edbeb2135147b9358426b1b145fc5ba7","datavalue":{"value":"CID11:5C81.1","type":"string"},"datatype":"string"},"type":"statement","id":"Q40098$09B6570F-F411-45C5-AB47-C8DE07B10965","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"439b798d8c72350f2c95cc421dab06c0ec60fba8","datavalue":{"value":"dki-india-5C81.1","type":"string"},"datatype":"string"},"type":"statement","id":"Q40098$DCFB9F85-863C-458A-85F4-DFF96FF29FE3","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q40098$6D4DD60B-7147-4272-987F-F52E3D23473F","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":"Q40098$0CF48576-15A8-4309-A5FF-E63AA417AD90","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":"Q40098$91BD8A9B-7008-41B7-A844-4931ACB22C32","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"63b723a2f6573752bd92918346934016b1956e7f","datavalue":{"value":{"entity-type":"item","numeric-id":15667,"id":"Q15667"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q40098$B2D62046-3B87-4355-9844-3D20A5DE522D","rank":"normal"}]},"sitelinks":{}}}}