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GTR Home > Conditions/Phenotypes > Primary familial polycythemia due to EPO receptor mutation


Excerpted from the GeneReview: Primary Familial and Congenital Polycythemia
Primary familial and congenital polycythemia (PFCP) is characterized by isolated erythrocytosis in an individual with a normal-sized spleen and absence of disorders causing secondary erythrocytosis. Clinical manifestations relate to the erythrocytosis and can include plethora, the hyperviscosity syndrome (headache, dizziness, fatigue, lassitude, visual and auditory disturbances, paresthesia, myalgia), altered mental status caused by hypoperfusion and local hypoxia, and arterial and/or venous thromboembolic events. Although the majority of individuals with PFCP have only mild manifestations of hyperviscosity such as dizziness or headache, some affected individuals have had severe and even fatal complications including arterial hypertension, intracerebral hemorrhage, deep vein thrombosis, coronary disease, and myocardial infarction. To date 116 affected individuals from 24 families have been reported.

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: EPO-R, EPOR
    Summary: erythropoietin receptor

  • Also known as: JTK10, JAK2
    Summary: Janus kinase 2

  • Also known as: IDDM20, LNK, SH2B3
    Summary: SH2B adaptor protein 3

Clinical features


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