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autosomal recessive severe congenital neutropenia due to JAGN1 deficiency (SCN6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

MONDO:0014456

Also known as:SCN6neutropenia, severe congenital, 6, autosomal recessive

Overview

GeneticsAutosomal recessive · JAGN1 (chr 3)

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: Decreased total neutrophil count; and very common findings: Bone marrow maturation arrest. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Recurrent bacterial infections, Recurrent respiratory 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.

JAGN1 encodes jagunal vesicle mediated transporter 1 (183 aa). Endoplasmic reticulum transmembrane protein involved in vesicle-mediated transport, which is required for neutrophil function. Highest expression in Cells Cultured fibroblasts (67.6 TPM) and Adrenal Gland (64.6 TPM).

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is associated with mutations in the JAGN1 gene on chromosome 3.

JAGN1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for JAGN1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature.

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 JAGN1 deficiency.

17 publications have been identified in PubMed for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency. Research spans Case Report / Case Series (35%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Patient case studies	6	35%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616022

Orphanet

European rare disease database

Orphanet:423384

GARD

Genetic and Rare Diseases Info Center

GARD:17702

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 JAGN1 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 JAGN1 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