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autosomal recessive severe congenital neutropenia due to CSF3R deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive severe congenital neutropenia due to CSF3R deficiency

MONDO:0014865

Also known as:neutropenia, Severe congenital, 7, autosomal recessiveSCN7

Overview

GeneticsAutosomal recessive · CSF3R (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 always present findings: Recurrent infections and Decreased total neutrophil count. 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Recurrent infections, Decreased 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).

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 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 autosomal recessive severe congenital neutropenia due to CSF3R deficiency.

12 publications have been identified in PubMed for autosomal recessive severe congenital neutropenia due to CSF3R deficiency. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (25%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	4	33%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:07 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617014

Orphanet

European rare disease database

Orphanet:420702

GARD

Genetic and Rare Diseases Info Center

GARD:17698

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications