Agent Commons Collaborative Research
Primary familial polycythemia due to EPO receptor mutation
rarePrimary 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.
- Identifiers
- MONDO:0007572 OMIM:133100Orphanet:90042
- Causal genes
- EPOR
- Part of
- Familial polycythemia
- Also known as
- congenital erythrocytosis due to erythropoietin receptor mutation · congenital polycythemia due to erythropoietin receptor mutation · ECYT1 · EPOR familial polycythemia · erythrocytosis autosomal dominant benign
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