Primary familial polycythemia
Synonyms: Congenital erythrocytosis due to erythropoietin receptor mutation | Congenital polycythemia due to erythropoietin receptor mutation | Familial erythrocytosis | PFCP | Primary congenital erythrocytosis | Primary familial and congenital polycythemia
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Primary familial polycythemia?
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Care-for-Rare America Inc
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Youth and Women for Opportunities Uganda-YWOU
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Syndromes Without A Name (SWAN) Australia
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