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GTR Home > Conditions/Phenotypes > Erythrocytosis, familial, 5

Erythrocytosis, familial, 5

Summary

Erythrocytosis-5 (ECYT5) is an autosomal dominant disorder characterized by increased red cell mass and typically elevated hemoglobin concentration and hematocrit. Some patients have increased serum EPO levels (summary by Zmajkovic et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DBAL, ECYT5, EP, MVCD2, EPO
    Summary: erythropoietin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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