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primary ciliary dyskinesia 26 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 26

MONDO:0014211

Also known as:CFAP298 primary ciliary dyskinesiaCILD26ciliary dyskinesia, primary, type 26

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.

GeneticsAutosomal recessive · CFAP298 (chr 21)

OnsetCONGENITAL, NEONATAL

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, Recurrent sinusitis, Immotile cilia, and Neonatal respiratory distress; and common findings: Situs inversus totalis, Bronchiectasis, and Recurrent otitis media. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections

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.

CFAP298 encodes cilia and flagella associated protein 298 (290 aa). Plays a role in motile cilium function, possibly by acting on outer dynein arm assembly. Seems to be important for initiation rather than maintenance of cilium motility. Highest expression in Testis (84.4 TPM) and Brain Cerebellar Hemisphere (70.1 TPM).

Primary ciliary dyskinesia 26 has been associated with mutations in the CFAP298 gene on chromosome 21.

CFAP298 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CFAP298 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 26 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 3 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 26.

142 publications have been identified in PubMed for primary ciliary dyskinesia 26. Research spans Case Report / Case Series (25%), Epidemiology / Natural History (23%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Patient case studies	36	25%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615500

GARD

Genetic and Rare Diseases Info Center

GARD:15974

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 26

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 26

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