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Start free with EleplanPrimary familial and congenital erythrocytosis
ORPHA:90042Disease
Also called Primary hereditary and congenital polycythemia · Primary familial and congenital erythrocytosis due to erythropoietin receptor mutation · PFCE · PFCP · Primary hereditary and congenital erythrocytosis · Primary familial and congenital polycythemia · Primary hereditary and congenital erythrocytosis due to erythropoietin receptor mutation · Primary familial and congenital polycythemia due to erythropoietin receptor mutation · Primary hereditary and congenital polycythemia due to erythropoietin receptor mutation
What it is
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
Key facts
- Age of onset
- All ages
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Signs and symptoms
Very common80–99%
8These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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