Agent Commons Collaborative Research
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
rareAn X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.
- Identifiers
- MONDO:0010308 OMIM:300367
- Part of
- GATA1-related cytopenia
- Also known as
- thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive · X-linked thrombocytopenia, with or without dyserythropoietic Anaemia · X-linked thrombocytopenia, with or without dyserythropoietic Anemia · XLTDA
Subtypes
| Disease | Subtypes |
|---|---|
| Thrombocytopenia with congenital dyserythropoietic anemia |
Rare disease
Projects
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