Amegakaryocytic Thrombocytopenia, Congenital, 1 (CAMT1)

Amegakaryocytic Thrombocytopenia, Congenital, 1, also known as congenital amegakaryocytic thrombocytopenia, is related to essential thrombocythemia and pancytopenia. An important gene associated with Amegakaryocytic Thrombocytopenia, Congenital, 1 is MPL (MPL Proto-Oncogene, Thrombopoietin Receptor), and among its related pathways/superpathways are NF-kappaB Signaling and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Mechlorethamine and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are abnormal hemoglobin and thrombocytopenia