{"entities":{"Q88757":{"pageid":79142,"ns":120,"title":"Item:Q88757","lastrevid":488905,"modified":"2026-08-15T15:08:57Z","type":"item","id":"Q88757","labels":{"mul":{"language":"mul","value":"ID_383332048"},"pt-br":{"language":"pt-br","value":"Anemia diseritropoi\u00e9tica com trombocitopenia"},"en":{"language":"en","value":"Dyserythropoietic anaemia with thrombocytopenia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome \u00e9 caracterizada por anemia diseritropoi\u00e9tica e trombocitopenia. A preval\u00eancia \u00e9 desconhecida mas a doen\u00e7a parece ser muito rara. Os indiv\u00edduos afetados demonstram diminui\u00e7\u00e3o das plaquetas, eritr\u00f3citos dism\u00f3rficos (poiquilocitose e anisocitose), defeitos da matura\u00e7\u00e3o dos megacari\u00f3citos e anormalidades do sistema de membranas citoplasm\u00e1ticas. Criptorquidismo tamb\u00e9m tem sido relatado. A s\u00edndrome \u00e9 causada pela muta\u00e7\u00e3o no gene GATA 1, um fator de transcri\u00e7\u00e3o necess\u00e1rio para a diferencia\u00e7\u00e3o eritroide e megacarioc\u00edtica normal. A transmiss\u00e3o \u00e9 ligada ao X."},"en":{"language":"en","value":"This syndrome is characterised by dyserythropoietic anaemia and thrombocytopaenia. The prevalence is unknown but the disease appears to be very rare. Affected individuals display paucity of the platelets, dysmorphic erythrocytes (poikilocytosis and anisocytosis), defective megakaryocyte maturation and cytoplasmic membrane system abnormalities. Cryptorchidism has also been reported. The syndrome is caused by a mutation in the GATA1 gene, a transcription factor required for normal erythroid and megakaryocytic differentiation. Transmission is X-linked."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"6085144369522ebdee4be18670344469627f3ef3","datavalue":{"value":"https://id.who.int/icd/entity/383332048","type":"string"},"datatype":"url"},"type":"statement","id":"Q88757$9CE929C8-8147-41AA-9369-8DC0CA7D9701","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"b97c8c9831d6ee2c9c4ad54f1d2fd5bc9d31cdb3","datavalue":{"value":"CID11:ID_383332048","type":"string"},"datatype":"string"},"type":"statement","id":"Q88757$7929017C-AC58-43AC-BA44-F97E9BF72A12","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"b5240319a72233773d4f2f9dcbf74823127b2361","datavalue":{"value":"dki-india-ID_383332048","type":"string"},"datatype":"string"},"type":"statement","id":"Q88757$91EE24C1-212D-4E56-9C12-7768B904E022","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q88757$B32DB08D-0648-432C-B651-51485FCF8C09","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":"Q88757$B370763A-0944-4BCA-8C23-2BB71D64E481","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":"Q88757$6A709BCA-965D-4110-A4AF-EB5804B9A8BD","rank":"normal"}]},"sitelinks":{}}}}