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

Erythrocytosis, familial, 4

Summary

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.

Clinical tests (17 available)

Molecular Genetics 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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Imported from Human Phenotype Ontology (HPO)

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