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primary ciliary dyskinesia 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 13

MONDO:0013174

Also known as:CILD13DNAAF1 primary ciliary dyskinesiaciliary dyskinesia, primary, type 13

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene.

GeneticsAutosomal recessive · DNAAF1 (chr 16)

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: Absent outer dynein arms, Bronchiectasis, Immotile cilia, and Infertility and others; and very common findings: Recurrent sinusitis. 10 total HPO annotations.

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

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.

DNAAF1 encodes dynein axonemal assembly factor 1 (725 aa). Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Highest expression in Testis (79.2 TPM) and Pituitary (11.4 TPM).

Primary ciliary dyskinesia 13 is caused by mutations in the DNAAF1 gene on chromosome 16.

DNAAF1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAAF1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 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 13.

155 publications have been identified in PubMed for primary ciliary dyskinesia 13. Research spans Epidemiology / Natural History (24%), Review / Meta-Analysis (21%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	33	24%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613193

GARD

Genetic and Rare Diseases Info Center

GARD:15628

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 13

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 13

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