{"entities":{"Q99455":{"pageid":89848,"ns":120,"title":"Item:Q99455","lastrevid":565888,"modified":"2026-08-16T16:07:25Z","type":"item","id":"Q99455","labels":{"mul":{"language":"mul","value":"ID_956396927"},"pt-br":{"language":"pt-br","value":"C\u00fatis laxa autoss\u00f4mica recessiva, tipo 2A"},"en":{"language":"en","value":"Autosomal recessive cutis laxa, type 2A"}},"descriptions":{"pt-br":{"language":"pt-br","value":"C\u00fatis laxa autoss\u00f4mica recessiva tipo 2A (ARCL-2A) \u00e9 uma doen\u00e7a gen\u00e9tica rara resultante de muta\u00e7\u00f5es em um gene que codifica uma bomba de pr\u00f3tons (ATP6V0A2) necess\u00e1ria para o processamento normal por Golgi da tropoelastina . As manifesta\u00e7\u00f5es externas incluem pele redundante e enrugada, nariz curto com ponte nasal larga, fissuras palpebrais inclinadas para baixo, estreitamento bitemporal, fronte larga e retrognatia. Pode estar associada a graves defeitos do sistema nervoso central, incluindo microcefalia, hipotonia, convuls\u00f5es, miopia e neurodegenera\u00e7\u00e3o."},"en":{"language":"en","value":"Autosomal recessive cutis laxa type 2A (ARCL-2A) is a rare genetic disease resulting from mutations in a gene encoding a proton pump (ATP6V0A2) required for normal Golgi processing of tropoelastin. External manifestations include redundant and wrinkled skin, short nose with broad nasal bridge, down-slanting palpebral fissures, bitemporal narrowing, broad forehead, and retrognathia. It may be associated with severe central nervous system defects including microcephaly, hypotonia, seizures, myopia and neurodegeneration."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"72fb986a720354dea4f7215a5c8f54366da51018","datavalue":{"value":"https://id.who.int/icd/entity/956396927","type":"string"},"datatype":"url"},"type":"statement","id":"Q99455$ACA0584F-991F-4F83-B0B8-11AD6FA85F97","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"23f0ed6cdbb6393ee8175a73435d81a16c3216cb","datavalue":{"value":"CID11:ID_956396927","type":"string"},"datatype":"string"},"type":"statement","id":"Q99455$6DEB90DC-4062-495D-960D-D7B91FB3C155","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"025db04005a291801e9d976d9157d3268832f80f","datavalue":{"value":"dki-india-ID_956396927","type":"string"},"datatype":"string"},"type":"statement","id":"Q99455$4C630824-59BE-431F-9F71-67DDF485DBD4","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q99455$631E0B93-0BAF-4061-BDB0-F224CDB1E083","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":"Q99455$879A1363-A91A-42A1-9FBD-C3A5AD04C7CD","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":"Q99455$0D9911AE-9636-4CAD-968E-B8F552DD51BE","rank":"normal"}]},"sitelinks":{}}}}