{"entities":{"Q100824":{"pageid":91217,"ns":120,"title":"Item:Q100824","lastrevid":575803,"modified":"2026-08-16T17:35:45Z","type":"item","id":"Q100824","labels":{"mul":{"language":"mul","value":"ID_1108770803"},"pt-br":{"language":"pt-br","value":"Doen\u00e7a de dep\u00f3sito de glicog\u00eanio devido \u00e0 defici\u00eancia de glicog\u00eanio sintetase muscular"},"en":{"language":"en","value":"Glycogen storage disease due to muscle or heart glycogen synthase deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome \u00e9 caracterizada por defici\u00eancia de glicog\u00eanio no m\u00fasculo e cora\u00e7\u00e3o. Foi descrita em tr\u00eas irm\u00e3os (dois irm\u00e3os e sua irm\u00e3 mais nova). O irm\u00e3o mais velho morreu aos 10,5 anos de idade devido a morte s\u00fabita card\u00edaca e o irm\u00e3o mais novo apresentou cardiomiopatia hipertr\u00f3fica, frequ\u00eancia card\u00edaca e press\u00e3o arterial anormais durante o exerc\u00edcio e fadigabilidade muscular. A irm\u00e3 n\u00e3o apresentou sintomas, mas a falta de glicog\u00eanio foi identificada por meio de bi\u00f3psia muscular.A s\u00edndrome \u00e9 causada por muta\u00e7\u00f5es homozig\u00f3ticas de sentido incorreto no gene que codifica a glicog\u00eanio sintase muscular."},"en":{"language":"en","value":"This syndrome is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"80b9a9e016b7185c737e6f3bf4c55b91cb464890","datavalue":{"value":"https://id.who.int/icd/entity/1108770803","type":"string"},"datatype":"url"},"type":"statement","id":"Q100824$A7DBCDD3-8D7D-411C-BE99-B03FE81724D5","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"b17ad7ae074b758ec85485da65c0e2268a723f3a","datavalue":{"value":"CID11:ID_1108770803","type":"string"},"datatype":"string"},"type":"statement","id":"Q100824$115FF33B-16EC-4D5C-A608-DB2CC34E8BDA","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"cec80b034d41119e657aa550081b9aa2b4fa256c","datavalue":{"value":"dki-india-ID_1108770803","type":"string"},"datatype":"string"},"type":"statement","id":"Q100824$12D71E81-DA08-4210-A964-BF2CB65D8081","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q100824$00E8B5D0-7B37-4F87-9C7E-217F592D6A07","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":"Q100824$0992D2E3-E4C1-421B-AF00-142B6349898D","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q100824$FA4DE002-D7A8-4727-B323-372592566288","rank":"normal"}]},"sitelinks":{}}}}