Preferred Label : Dyserythropoietic anaemia with thrombocytopenia;
ICD-11 definition : This syndrome is characterized by dyserythropoietic anemia and thrombocytopaenia.
The prevalence is unknown but the disease appears to be very rare. Affected individuals
display paucity of the platelets, dysmorphic erythrocytes (poikilocytosis and anisocytosis),
defective megakaryocyte maturation and cytoplasmic membrane system abnormalities.
Cryptorchidism has also been reported. The syndrome is caused by a mutation in the
GATA1 gene, a transcription factor required for normal erythroid and megakaryocytic
differentiation. Transmission is X-linked.;
ICD-11 synonym : X-linked dyserythropoietic anaemia and thrombocytopenia;
Origin ID : 383332048;
Automatic exact mappings (from CISMeF team)
This syndrome is characterized by dyserythropoietic anemia and thrombocytopaenia.
The prevalence is unknown but the disease appears to be very rare. Affected individuals
display paucity of the platelets, dysmorphic erythrocytes (poikilocytosis and anisocytosis),
defective megakaryocyte maturation and cytoplasmic membrane system abnormalities.
Cryptorchidism has also been reported. The syndrome is caused by a mutation in the
GATA1 gene, a transcription factor required for normal erythroid and megakaryocytic
differentiation. Transmission is X-linked.
