A hereditary form of polycythemia (increased red blood cell mass) that is characterized by hypersensitivity of erythroid cells to ERYTHROPOIETIN. It is caused by mutations in the ERYTHROPOIETIN RECEPTOR (EPOR) gene. OMIM: 133100
Also Known As:
Polycythemia, primary familial and congenital; Benign Familial Polycythemia; Congenital Erythrocytosis; ECYT1 familial erythrocytosis-1; Erythrocytosis autosomal dominant benign; Erythrocytosis familial, 1; Erythrocytosis, Autosomal Dominant Benign; Erythrocytosis, Familial, 1; Familial Erythrocytosis; Familial Polycythemia; Familial erythrocytosis, 1; Hereditary Erythrocytosis; Primary Familial Polycythemia