/primary familial polycythemia due to EPO receptor mutation

primary familial polycythemia due to EPO receptor mutation

Rare Disease

MONDO:0007572

Also Known As

EPOR familial polycythemiaPFCPcongenital erythrocytosis due to erythropoietin receptor mutationcongenital polycythemia due to erythropoietin receptor mutationerythrocytosis, familial, 1erythrocytosis, familial, type 1erythrocytosis, somaticfamilial erythrocytosisfamilial erythrocytosis 1familial erythrocytosis type 1familial erythrocytosis, 1familial polycythemia caused by mutation in EPORprimary congenital erythrocytosisprimary familial and congenital polycythemiaECYT1autosomal dominant benign erythrocytosiserythrocytosis autosomal dominant benignerythrocytosis, autosomal dominant benignpolycythemia, primary familial and congenitalprimary familial polycythemia

Definition

Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.