primary familial polycythemia due to EPO receptor mutation
Findings
No curated finding names primary familial polycythemia due to EPO receptor mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007572), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased circulating hemoglobin concentrationHPOHP:0001900
- 33 of 33 reported patients
- Increased hematocritHPOHP:0001899
- 33 of 33 reported patients
- Abnormal hemoglobinHPOHP:0011902
- Very frequent (80% to 99% of cases)
- DyspneaHPOHP:0002094
- Very frequent (80% to 99% of cases)
- EpistaxisHPOHP:0000421
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Headache
Show the remaining 6
- PruritusHPOHP:0000989
- Frequent (30% to 79% of cases)
- Abnormal bleedingHPOHP:0001892
- Occasional (5% to 29% of cases)
- CoughHPOHP:0012735
- Occasional (5% to 29% of cases)
- Exertional dyspneaHPOHP:0002875
- Occasional (5% to 29% of cases)
- ThromboembolismHPOHP:0001907
- Occasional (5% to 29% of cases)
- Increased red blood cell massHPOHP:0001898
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EPORHGNC:3416
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- SH2B3HGNC:29605
- No Known Disease Relationship · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
- A kind of
Other names
13 names
Resolves to: primary familial polycythemia due to EPO receptor mutation
- Also called
- congenital erythrocytosis due to erythropoietin receptor mutationcongenital polycythemia due to erythropoietin receptor mutationEPOR familial polycythemiaerythrocytosis, familial, 1erythrocytosis, familial, type 1erythrocytosis, somaticfamilial erythrocytosisfamilial erythrocytosis type 1familial erythrocytosis, 1familial polycythemia caused by mutation in EPORPFCPprimary congenital erythrocytosisprimary familial and congenital polycythemia