erythrocytosis, familial, 4
Findings
No curated finding names erythrocytosis, familial, 4 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 EPAS1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012729), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Deep venous thrombosisHPOHP:0002625
- 1 of 1 reported patient · Middle age onset
- Elevated circulating erythropoietin concentrationHPOHP:0033644
- 6 of 6 reported patients
- Increased circulating hemoglobin concentrationHPOHP:0001900
- 6 of 6 reported patients
- Increased hematocritHPOHP:0001899
- 5 of 5 reported patients
- PolycythemiaHPOHP:0001901
- 1 of 1 reported patient
- PruritusHPOHP:0000989
- 2 of 5 reported patients
- Mesenteric venous thrombosis
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.
- EPAS1HGNC:3374
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: erythrocytosis, familial, 4
- Also called
- EPAS1 familial polycythemiaerythrocytosis, familial, type 4familial polycythemia caused by mutation in EPAS1