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erythrocytosis, familial, 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

erythrocytosis, familial, 3

MONDO:0012353

Also known as:EGLN1 familial polycythemiaerythrocytosis, familial, type 3familial polycythemia caused by mutation in EGLN1

Overview

Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene.

GeneticsAutosomal dominant · EGLN1 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Increased circulating hemoglobin concentration, Increased hematocrit, and Increased red blood cell mass.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Increased circulating hemoglobin concentration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

EGLN1 encodes egl-9 family hypoxia inducible factor 1 (426 aa). Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Highest expression in Muscle Skeletal (155.9 TPM) and Adipose Subcutaneous (40.2 TPM).

Erythrocytosis, familial, 3 is associated with mutations in the EGLN1 gene on chromosome 1.

The EGLN1 protein participates in Cellular response to hypoxia pathway.

EGLN1 is classified as a druggable target (Clinically Actionable, Druggable Genome, and Enzyme categories) with score 4.7.

Diagnosis

Genetic testing for EGLN1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for erythrocytosis, familial, 3 has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for erythrocytosis, familial, 3.

22 publications have been identified in PubMed for erythrocytosis, familial, 3. Research spans Case Report / Case Series (27%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (23%).

Research Type	Count	% of Total
Patient case studies	6	27%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 9:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:609820

GARD

Genetic and Rare Diseases Info Center

GARD:18355

Questions for Your Care Team

→Should I pursue genetic testing for EGLN1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

erythrocytosis, familial, 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Characterization of a Newly Discovered Non-Coding Variant in the EPO Gene Identified in Two Unrelated Italian Pedigrees With Erythrocytosis.

erythrocytosis, familial, 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Characterization of a Newly Discovered Non-Coding Variant in the EPO Gene Identified in Two Unrelated Italian Pedigrees With Erythrocytosis.