DISEASES

Disease-gene associations mined from literature

Human genes for familial erythrocytosis 1

Familial erythrocytosis 1 [DOID:0060652]

A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO.

Synonyms:  familial erythrocytosis 1,  DOID:0060652,  hereditary erythrocytosis 1,  autosomal dominant benign erythrocytosis,  primary familial and congenital polycythemia ...