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GTR Home > Conditions/Phenotypes > Chuvash polycythemia

Chuvash polycythemia

Synonyms
Erythrocytosis, familial, 2; POLYCYTHEMIA, VHL-DEPENDENT
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Familial erythrocytosis-2 (ECYT2) is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors may be hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of familial erythrocytosis, see ECYT1 (133100). [from OMIM]

Available tests

77 tests are in the database for this condition.

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Clinical tests (77 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HRCA1, RCA1, VHL1, pVHL, VHL
    Summary: von Hippel-Lindau tumor suppressor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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