Dyserythropoietic anaemia with thrombocytopenia (Q88757): Difference between revisions
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Esta síndrome é caracterizada por anemia diseritropoiética e trombocitopenia. A prevalência é desconhecida mas a doença parece ser muito rara. Os indivíduos afetados demonstram diminuição das plaquetas, eritrócitos dismórficos (poiquilocitose e anisocitose), defeitos da maturação dos megacariócitos e anormalidades do sistema de membranas citoplasmáticas. Criptorquidismo também tem sido relatado. A síndrome é causada pela mutação no gene GATA 1, um fator de transcrição necessário para a diferenciação eritroide e megacariocítica normal. A transmissão é ligada ao X. | |||||||||||||||
| description / en | description / en | ||||||||||||||
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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/383332048 / rank | |||||||||||||||
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CID11:ID_383332048 | |||||||||||||||
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dki-india-ID_383332048 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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Latest revision as of 15:08, 15 August 2026
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.
| Language | Label | Description | Also known as |
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| default for all languages | ID_383332048 |
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| English | Dyserythropoietic anaemia with thrombocytopenia |
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. |
Statements
CID11:ID_383332048
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dki-india-ID_383332048
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Concluído
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13 August 2026
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