Congenital amegakaryocytic thrombocytopenia 1

Any congenital amegakaryocytic thrombocytopenia in which the cause of the disease is a variation in the MPL gene. It is characterized by severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The disorder reflects impaired TPO–MPL signaling leading to failure of megakaryopoiesis, but shows a favorable response to bone‑marrow transplantation.