From OMIM
Familial erythrocytosis-1 (ECYT1) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO (133170), and low serum levels of EPO. There is no increase in platelets or leukocytes and the disorder does not progress to leukemia (Kralovics et al., 1998). Genetic Heterogeneity of Familial Erythrocytosis See also ECYT2 (263400), caused by mutation in the VHL gene (608537) on chromosome 3p25; ECYT3 (609820), caused by mutation in the EGLN1 gene (606425) on chromosome 1q42; ECYT4 (611783), caused by mutation in the EPAS1 gene (603349) on chromosome 2p21; ECYT5 (617907), caused by mutation in the EPO gene (133170) on chromosome 7q22; ECYT6 (617980), caused by mutation in the HBB gene (141900) on chromosome 11q15; ECYT7 (617981), caused by mutation in the HBA genes (141800; 141850) on chromosome 16p13; and ECYT8 (222800), caused by mutation in the BPGM gene (613896) on chromosome 7q33. Stamatoyannopoulos (1972) reviewed causes of familial erythrocytosis and noted that the disorder may result from defects in the regulation of 2,3-diphosphoglycerate (see 613896 and 222800). Erythrocytosis may also be caused by somatic mutation in the JAK2 (147796) or the SH2B3 (605093) gene on chromosome 9p24 and 12q24, respectively. For a review of the genetics of congenital erythrocytosis, see Bento et al. (2014).  http://www.omim.org/entry/133100