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primary ciliary dyskinesia 25 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 25

MONDO:0014203

Also known as:CILD25DNAAF4 primary ciliary dyskinesiaciliary dyskinesia, primary, type 25

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene.

GeneticsAutosomal recessive · DNAAF4 (chr 15)

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: Infertility; and very common findings: Immotile cilia. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	6	Bronchiectasis, Recurrent pneumonia, Chronic pulmonary obstruction

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.

DNAAF4 encodes dynein axonemal assembly factor 4 (420 aa). Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. Highest expression in Thyroid (14.1 TPM) and Testis (11.0 TPM).

Primary ciliary dyskinesia 25 is caused by mutations in the DNAAF4 gene on chromosome 15.

DNAAF4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAAF4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 25 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 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 25.

202 publications have been identified in PubMed for primary ciliary dyskinesia 25. Research spans Case Report / Case Series (27%), Epidemiology / Natural History (18%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	55	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615482

GARD

Genetic and Rare Diseases Info Center

GARD:15972

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 25

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 25

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