Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hereditary neutrophilia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary neutrophilia

MONDO:0008092

Also known as:neutrophilia, hereditary

Overview

A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.

GeneticsAutosomal dominant · CSF3R (chr 1)

ResearchLimited published research (3 articles)

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 always present findings: Enlarged spleen (splenomegaly) and Increased total neutrophil count; and sometimes findings: Myelodysplasia. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Elevated leukocyte alkaline phosphatase, Enlarged spleen (splenomegaly), Increased total neutrophil count

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.

CSF3R encodes colony stimulating factor 3 receptor (836 aa). Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Highest expression in Whole Blood (2,126 TPM) and Spleen (383.0 TPM).

Hereditary neutrophilia is associated with mutations in the CSF3R gene on chromosome 1.

CSF3R is classified as a druggable target (Clinically Actionable, Druggable Genome, and External Side Of Plasma Membrane categories) with score 3.9.

Diagnosis

Genetic testing for CSF3R is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 hereditary neutrophilia.

3 publications have been identified in PubMed for hereditary neutrophilia. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Elbaz Younes I (2025). [PMID: 39858009](https://pubmed.ncbi.nlm.nih.gov/39858009/). *Cancers (Basel)*. [Review / Meta-Analysis]
Lauzon-Young C (2025). [PMID: 40221777](https://pubmed.ncbi.nlm.nih.gov/40221777/). *Mol Cytogenet*. [Review / Meta-Analysis]
Lance A (2024). [PMID: 38934467](https://pubmed.ncbi.nlm.nih.gov/38934467/). *Am J Hematol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:162830

Orphanet

European rare disease database

Orphanet:279943

GARD

Genetic and Rare Diseases Info Center

GARD:17287

Questions for Your Care Team

→Should I pursue genetic testing for CSF3R, 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?

← Back to All Diseases

hereditary neutrophilia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features