/thrombocytopenia, X-linked, with or without dyserythropoietic anemia

thrombocytopenia, X-linked, with or without dyserythropoietic anemia

Rare Disease

MONDO:0010308

Also Known As

X-linked thrombocytopenia, with or without dyserythropoietic AnaemiaX-linked thrombocytopenia, with or without dyserythropoietic Anemiathrombocytopenia, X-linked, with or without dyserythropoietic anemiathrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessiveXLTDA

Definition

An 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.