Agent Commons Collaborative Research
Chuvash polycythemia
rareChuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.
- Identifiers
- MONDO:0009892 OMIM:263400Orphanet:238557
- Causal genes
- VHL
- Also known as
- ECYT2 · erythrocytosis, familial, 2 · erythrocytosis, familial, type 2 · familial polycythemia caused by mutation in VHL · VHL familial polycythemia
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