familial erythrocytosis 1 (DOID:0060652)
Alliance: disease page
Synonyms: autosomal dominant benign erythrocytosis; ECYT1; primary familial and congenital polycythemia
Alt IDs: OMIM:133100, ICD10CM:D75.0, ORDO:90042
Definition: 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.