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primary ciliary dyskinesia 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 15

MONDO:0013435

Also known as:CCDC40 primary ciliary dyskinesiaCILD15ciliary dyskinesia, primary, type 15

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene.

GeneticsAutosomal recessive · CCDC40 (chr 17)

OnsetCONGENITAL

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: Cough, Wheezing, Immotile sperm, and Chronic bronchitis; and very common findings: Rhinorrhea, Chronic sinusitis, Recurrent otitis media, and Recurrent respiratory infections. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	7	Bronchiectasis, Wheezing, Abnormal axonemal organization of respiratory motile cilia

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.

CCDC40 encodes coiled-coil domain 40 molecular ruler complex subunit (1,142 aa). Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Highest expression in Testis (24.1 TPM) and Pituitary (11.0 TPM).

Primary ciliary dyskinesia 15 is caused by mutations in the CCDC40 gene on chromosome 17.

CCDC40 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for CCDC40 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 4 very common features, 4 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 15.

155 publications have been identified in PubMed for primary ciliary dyskinesia 15. Research spans Epidemiology / Natural History (22%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Disease patterns and progression	28	22%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:04 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613808

GARD

Genetic and Rare Diseases Info Center

GARD:15714

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 15

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 15

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