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erythrocytosis, familial, 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

erythrocytosis, familial, 5

MONDO:0033483

Also known as:EPO familial polycythemiafamilial polycythemia caused by mutation in EPOECYT5

Overview

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

GeneticsAutosomal dominant · EPO (chr 7)

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, Elevated circulating erythropoietin concentration, and Polycythemia.

Organ System	Phenotype Count	Example Features
Lab test results	2	Increased circulating hemoglobin concentration, Elevated circulating erythropoietin 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.

EPO encodes erythropoietin (193 aa). Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Highest expression in Liver (12.4 TPM) and Cervix Endocervix (4.9 TPM).

Erythrocytosis, familial, 5 is associated with mutations in the EPO gene on chromosome 7.

The EPO protein participates in Expression of Erythropoietin (EPO) and p-STAT5 dissociates from EPO:phospho-EPOR:phospho-JAK2:LYN:IRS2 pathways.

EPO is classified as a druggable target (Cell Surface, Druggable Genome, and Hormone Activity categories) with score 14.9.

Diagnosis

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

Biomarker and diagnostic research for erythrocytosis, familial, 5 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, 5.

14 publications have been identified in PubMed for erythrocytosis, familial, 5. Research spans Epidemiology / Natural History (31%), Case Report / Case Series (23%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Disease patterns and progression	4	31%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617907

Questions for Your Care Team

→Should I pursue genetic testing for EPO, 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, 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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, 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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.