{"entities":{"Q96984":{"pageid":87377,"ns":120,"title":"Item:Q96984","lastrevid":548039,"modified":"2026-08-16T13:01:05Z","type":"item","id":"Q96984","labels":{"mul":{"language":"mul","value":"ID_1624017024"},"pt-br":{"language":"pt-br","value":"Porfiria homozig\u00f3tica variegata"},"en":{"language":"en","value":"Homozygous variegate porphyria"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta doen\u00e7a, uma variante muito rara da porfiria variegata, \u00e9 uma doen\u00e7a cut\u00e2nea e neurol\u00f3gica grave que se manifesta na primeira inf\u00e2ncia e caracterizada por n\u00edveis marcadamente reduzidos da pen\u00faltima enzima na via biossint\u00e9tica do heme, protoporfirinog\u00eanio oxidase. A porfiria variegata \u00e9 geralmente herdada como um tra\u00e7o autoss\u00f4mico dominante, exibindo penetr\u00e2ncia incompleta, pois nem todas as pessoas portadoras de uma muta\u00e7\u00e3o no gene da protoporfirinog\u00eanio oxidase desenvolvem o fen\u00f3tipo cl\u00ednico. Alguns dos casos de porfiria variegata \"homozig\u00f3tica\" seriam heterozigotos compostos para diferentes muta\u00e7\u00f5es de sentido incorreto em vez de homozigotos verdadeiros."},"en":{"language":"en","value":"This disease, a very rare variant of variegate porphyria, is a severe skin and neurologic disease manifesting in early infancy, and characterised by markedly reduced levels of the penultimate enzyme in the heme biosynthetic pathway, protoporphyrinogen oxidase. Variegate porphyria is usually inherited as an autosomal dominant trait, displaying incomplete penetrance, as not all persons carrying a mutation in protoporphyrinogen oxidase gene develop the clinical phenotype. Some of the cases of \"homozygous\" variegate porphyria would be compound heterozygotes for different missense mutations rather than true homozygotes."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"05d5bc7ce4092dc4ab85cacf637de84caddf9105","datavalue":{"value":"https://id.who.int/icd/entity/1624017024","type":"string"},"datatype":"url"},"type":"statement","id":"Q96984$51EE361D-5F6C-4AD6-9BB0-9C164E5C9637","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"5cf2d521b499ed1b18fe179fb201f969da5fe6ab","datavalue":{"value":"CID11:ID_1624017024","type":"string"},"datatype":"string"},"type":"statement","id":"Q96984$E0A9C09A-A2D7-4C2D-AA80-AB4C01BFE329","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"dd3a0d04ad0239404a9be3c7485c7360daed2e15","datavalue":{"value":"dki-india-ID_1624017024","type":"string"},"datatype":"string"},"type":"statement","id":"Q96984$4665C69B-F36D-4306-9922-273E996FA2BF","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q96984$D7947DA2-211B-4702-A7D3-254266B98DB0","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":"Q96984$BA4B313F-95C1-4E13-BF8E-7C4379EF5AA3","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":"Q96984$445254B8-3F3F-4A77-BCC2-D60E2AF21575","rank":"normal"}]},"sitelinks":{}}}}