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 3 (CILD3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 3

MONDO:0012085

Also known as:CILD3DNAH5 primary ciliary dyskinesiaciliary dyskinesia, primary, type 3

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene.

GeneticsAutosomal recessive · DNAH5 (chr 5)

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, Recurrent otitis media, and Recurrent sinusitis; and very common findings: Bronchiectasis. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Bronchiectasis, Recurrent respiratory infections, Neonatal respiratory distress

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.

DNAH5 encodes dynein axonemal heavy chain 5 (4,624 aa). Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Key component of dynein, a family of motor proteins essential for movement along microtubules. Highest expression in Pituitary (3.4 TPM) and Lung (2.2 TPM).

Primary ciliary dyskinesia 3 is caused by mutations in the DNAH5 gene on chromosome 5.

DNAH5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAH5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 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 3.

240 publications have been identified in PubMed for primary ciliary dyskinesia 3. Research spans Epidemiology / Natural History (26%), Case Report / Case Series (23%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Disease patterns and progression	51	26%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:07 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608644

GARD

Genetic and Rare Diseases Info Center

GARD:15436

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 3

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 3

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