Version: 8.0.0
Date: Tue Jan 28 2025
X-linked dyserythropoietic anemia
DOID:0112156
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

X-linked dyserythropoietic anemia

Definition
An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen.
Synonyms
  • X-linked anemia with/without neutropenia and/or platelet abnormalities
  • X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Cross References
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Sources of Associations

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