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primary ciliary dyskinesia 28 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 28

MONDO:0014216

Also known as:CILD28SPAG1 primary ciliary dyskinesiaciliary dyskinesia, primary, type 28

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene.

GeneticsAutosomal recessive · SPAG1 (chr 8)

OnsetNEONATAL

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 nasal nitric oxide and Dynein arm defect of respiratory motile cilia; and very common findings: Recurrent sinusitis, Recurrent otitis media, and Neonatal respiratory distress. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	6	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Dynein arm defect of respiratory motile cilia

Genetic Landscape

SPAG1 function has not been fully characterized.

Primary ciliary dyskinesia 28 is caused by mutations in the SPAG1 gene on chromosome 8.

Diagnosis

Genetic testing for SPAG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 28 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 very common features, 2 common 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 primary ciliary dyskinesia 28.

126 publications have been identified in PubMed for primary ciliary dyskinesia 28. Kisho has analyzed 80 by research type. Research spans Review / Meta-Analysis (29%), Epidemiology / Natural History (29%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Research summaries	23	29%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:27 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615505

GARD

Genetic and Rare Diseases Info Center

GARD:15977

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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primary ciliary dyskinesia 28

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

primary ciliary dyskinesia 28

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications