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neutropenia, severe congenital, 8, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neutropenia, severe congenital, 8, autosomal dominant

MONDO:0032899

Also known as:Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic AbnormalitiesSCN8Shwachman-Diamond Syndrome-Like

Find Clinical TrialsTrials

Overview

GeneticsAutosomal dominant · SRP54 (chr 14)

OnsetINFANTILE, CONGENITAL

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (2 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 arrest at the promyelocytic stage, Autistic behavior, and Decreased total neutrophil count; and common findings: Short stature, Steatorrhea, Exocrine pancreatic insufficiency, and Feeding difficulties in infancy and others. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Exocrine pancreatic insufficiency, Feeding difficulties in infancy, Elevated circulating hepatic transaminase concentration

Genetic Landscape

SRP54 function has not been fully characterized.

Neutropenia, severe congenital, 8, autosomal dominant is associated with mutations in the SRP54 gene on chromosome 14.

Diagnosis

Genetic testing for SRP54 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 5 common 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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

3 publications have been identified in PubMed for neutropenia, severe congenital, 8, autosomal dominant. Kisho has analyzed 2 by research type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Gold M (2025). [PMID: 41148944](https://pubmed.ncbi.nlm.nih.gov/41148944/). *Hematology reports*. [Review / Meta-Analysis]
Marti S (2025). [PMID: 40510848](https://pubmed.ncbi.nlm.nih.gov/40510848/). *HemaSphere*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 9:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618752

Orphanet

European rare disease database

Orphanet:675767

GARD

Genetic and Rare Diseases Info Center

GARD:16375

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Should I pursue genetic testing for SRP54, 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, 8, autosomal dominant

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

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