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primary ciliary dyskinesia 17 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 17

MONDO:0013854

Also known as:CCDC103 primary ciliary dyskinesiaCILD17ciliary dyskinesia, primary, type 17

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene.

GeneticsAutosomal recessive · DNAAF19 (chr 17)

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: Dynein arm defect of respiratory motile cilia; and common findings: Chronic rhinitis, Situs inversus totalis, and Recurrent respiratory infections. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Dynein arm defect of respiratory motile cilia, 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.

DNAAF19 encodes dynein axonemal assembly factor 19 (242 aa). Dynein-attachment factor required for cilia motility Highest expression in Adipose Subcutaneous (0.0 TPM) and Adipose Visceral Omentum (0.0 TPM).

Primary ciliary dyskinesia 17 is caused by mutations in the DNAAF19 gene on chromosome 17.

DNAAF19 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAAF19 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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 17.

134 publications have been identified in PubMed for primary ciliary dyskinesia 17. Research spans Epidemiology / Natural History (26%), Case Report / Case Series (25%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Disease patterns and progression	35	26%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614679

GARD

Genetic and Rare Diseases Info Center

GARD:15835

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 17

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

Latest News & Developments

Pulmonary exacerbations in primary ciliary dyskinesia.

Clinical Outcomes of Chronic Airway Infection in Primary Ciliary Dyskinesia.

Hepatocyte Growth Factor in Children of Primary Ciliary Dyskinesia and Its Relation to Disease Severity. A case-control study.

primary ciliary dyskinesia 17

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

Latest News & Developments

Pulmonary exacerbations in primary ciliary dyskinesia.

Clinical Outcomes of Chronic Airway Infection in Primary Ciliary Dyskinesia.

Hepatocyte Growth Factor in Children of Primary Ciliary Dyskinesia and Its Relation to Disease Severity. A case-control study.