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neutropenia, severe congenital, 11, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neutropenia, severe congenital, 11, autosomal dominant

MONDO:0958017

Overview

GeneticsAutosomal dominant · SEC61A1 (chr 3)

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: Bone marrow maturation arrest, Pleural empyema, Poor wound healing, and Renal hypoplasia and others.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Low red blood cell count (anemia), Low platelet count (thrombocytopenia), Decreased total neutrophil count

Genetic Landscape

SEC61A1 function has not been fully characterized.

Neutropenia, severe congenital, 11, autosomal dominant is associated with mutations in the SEC61A1 gene on chromosome 3.

Diagnosis

Genetic testing for SEC61A1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 23 always present features.

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 neutropenia, severe congenital, 11, autosomal dominant.

3 publications have been identified in PubMed for neutropenia, severe congenital, 11, autosomal dominant. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Kim JM (2026). [PMID: 42040242](https://pubmed.ncbi.nlm.nih.gov/42040242/). *Neurol Genet*. [Case Report / Case Series]
Fonseca M (2025). [PMID: 40698220](https://pubmed.ncbi.nlm.nih.gov/40698220/). *Cureus*. [Case Report / Case Series]
Xin J (2025). [PMID: 40535761](https://pubmed.ncbi.nlm.nih.gov/40535761/). *Front Pharmacol*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620674

Questions for Your Care Team

→Should I pursue genetic testing for SEC61A1, 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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neutropenia, severe congenital, 11, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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