familial erythrocytosis 2

A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.

Signs and symptoms

• Pulmonary arterial hypertension
• Failure to thrive
• Increased circulating hemoglobin concentration
• Increased hematocrit
• Headache
• Elevated circulating erythropoietin concentration
• Cerebral hemorrhage
• Peripheral thrombosis
• Stroke
• Plethora

Also known as: Chuvash erythromatosis; Chuvash polycythemia; Chuvash type polycythemia; ECYT2; autosomal recessive benign erythrocytosis