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GENATLAS PHENOTYPE
last update : 17-01-2009
Symbol CDATX
Location Xp11.23
Name dyserythropoietic anemia with thrombocytopenia
Corresponding gene GATA1
Main clinical features
  • characterized by macrothrombocytopenia, profound bleeding, and mild dyserythropoiesis with no measurable anemia
  • at electron microscopy, giant platelets with cytoplasmic clusters consisting of smooth endoplasmic reticulum and abnormal membrane complexes
  • Genetic determination sex linked
    Function/system disorder hematology
    Type disease
    Gene product
    Name GATA binding protein 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     mutations abrogating the interaction with FOG1 (ZFPM1)
    Remark(s) amino acid substitution at codon 208 function not only regarding megakaryocyte but also regarding erythroid development