erythrocytosis, familial, 3
MONDO:0012353Mondo
Findings
No curated finding names erythrocytosis, familial, 3 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 EGLN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012353), read 2026-09-29. CC BY 4.0.
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.
- EGLN1HGNC:1232
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: erythrocytosis, familial, 3
- Also called
- EGLN1 familial polycythemiaerythrocytosis, familial, type 3familial polycythemia caused by mutation in EGLN1