DISEASES

Disease-gene associations mined from literature

Human genes for congenital amegakaryocytic thrombocytopenia

Congenital amegakaryocytic thrombocytopenia [DOID:0090118]

A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34.

Synonyms:  congenital amegakaryocytic thrombocytopenia,  congenital amegakaryocytic thrombocytopenias,  DOID:0090118,  CAMT,  congenital amegakaryocytic thrombocytopenic purpura ...