erythrocytosis, familial, 5
Findings
No curated finding names erythrocytosis, familial, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene.
Definition from the Mondo Disease Ontology (MONDO:0033483), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Elevated circulating erythropoietin concentrationHPOHP:0033644
- Increased circulating hemoglobin concentrationHPOHP:0001900
- Increased hematocritHPOHP:0001899
- PolycythemiaHPOHP:0001901
Genes
1 gene
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.
- EPOHGNC:3415
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: erythrocytosis, familial, 5
- Also called
- EPO familial polycythemiafamilial polycythemia caused by mutation in EPO