GATA1-Related X-Linked Cytopenia
X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia.
MONDO:0003847
hereditary disease
is_a
MONDO:0005570
hematologic disorder
is_a
GATA1-Related Cytopenia
exact
GATA1-Related X-Linked Cytopenia
exact