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primary ciliary dyskinesia 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 10

MONDO:0012918

Also known as:CILD10DNAAF2 primary ciliary dyskinesiaciliary dyskinesia, primary, type 10

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene.

GeneticsAutosomal recessive · DNAAF2 (chr 14)

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: Chronic otitis media and Chronic sinusitis; and common findings: Situs inversus totalis. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Ciliary dyskinesia
Lungs and breathing

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.

DNAAF2 encodes dynein axonemal assembly factor 2 (837 aa). Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Highest expression in Testis (16.2 TPM) and Cells EBV-transformed lymphocytes (14.8 TPM).

Primary ciliary dyskinesia 10 is caused by mutations in the DNAAF2 gene on chromosome 14.

DNAAF2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAAF2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 1 common feature.

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 10.

170 publications have been identified in PubMed for primary ciliary dyskinesia 10. Kisho has analyzed 98 by research type. Research spans Basic Science / Preclinical (28%), Epidemiology / Natural History (22%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Laboratory research	27	28%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612518

GARD

Genetic and Rare Diseases Info Center

GARD:15560

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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Kisho

primary ciliary dyskinesia 10

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 10

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