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Primary familial polycythemia

Disease 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.

ORPHA:90042

  • Synonym(s):
    • Congenital erythrocytosis due to erythropoietin receptor mutation
    • Congenital polycythemia due to erythropoietin receptor mutation
    • Familial erythrocytosis
    • PFCP
    • Primary congenital erythrocytosis
    • Primary familial and congenital polycythemia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: D75.0
  • OMIM: 133100
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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