Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

primary ciliary dyskinesia 29 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 29

MONDO:0014378

Also known as:CCNO primary ciliary dyskinesiaCILD29ciliary dyskinesia, primary, type 29

Overview

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

GeneticsAutosomal recessive · CCNO (chr 5)

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: Bronchiectasis, Infertility, Decreased nasal nitric oxide, and Recurrent respiratory infections. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Bronchiectasis, 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.

CCNO encodes cyclin O (350 aa). Specifically required for generation of multiciliated cells, possibly by promoting a cell cycle state compatible with centriole amplification and maturation. Highest expression in Testis (32.8 TPM) and Thyroid (26.1 TPM).

Primary ciliary dyskinesia 29 is caused by mutations in the CCNO gene on chromosome 5.

CCNO is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for primary ciliary dyskinesia 29 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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 primary ciliary dyskinesia 29.

35 publications have been identified in PubMed for primary ciliary dyskinesia 29. Kisho has analyzed 26 by research type. Research spans Epidemiology / Natural History (27%), Case Report / Case Series (19%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Disease patterns and progression	7	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615872

GARD

Genetic and Rare Diseases Info Center

GARD:16025

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?

← Back to All Diseases

Kisho

primary ciliary dyskinesia 29

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 29

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