<h4>Background</h4>Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare platelet production disorder caused mainly by loss of function biallelic mutations in myeloproliferative leukemia virus oncogene (<i>MPL</i>), the gene encoding the thrombopoietin receptor (TPOR). The gene discussed is MPL; the disease is congenital amegakaryocytic thrombocytopenia 1.