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GTR Home > Conditions/Phenotypes > Erythrocytosis, familial, 4


Familial erythrocytosis-4 (ECYT4) is an autosomal dominant disorder characterized by increased serum red blood cell mass and hemoglobin concentration as well as elevated serum erythropoietin (EPO; 133170). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100). [from OMIM]

Available tests

17 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: ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73, EPAS1
    Summary: endothelial PAS domain protein 1

Clinical features


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