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primary ciliary dyskinesia 20 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 20

MONDO:0014030

Also known as:CCDC114 primary ciliary dyskinesiaCILD20ciliary dyskinesia, primary, type 20

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene.

GeneticsAutosomal recessive · ODAD1 (chr 19)

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: Bronchiectasis and Absent outer dynein arms; and very common findings: Productive cough and Recurrent otitis media. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	6	Bronchiectasis, High blood pressure in lung arteries (pulmonary arterial hypertension), Respiratory insufficiency due to defective ciliary clearance

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.

ODAD1 encodes outer dynein arm docking complex subunit 1 (670 aa). Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Highest expression in Testis (76.4 TPM) and Fallopian Tube (15.7 TPM).

Primary ciliary dyskinesia 20 is caused by mutations in the ODAD1 gene on chromosome 19.

ODAD1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ODAD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 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 20.

143 publications have been identified in PubMed for primary ciliary dyskinesia 20. Kisho has analyzed 67 by research type. Research spans Review / Meta-Analysis (24%), Epidemiology / Natural History (19%), and Case Report / Case Series (15%).

Research Type	Count	% of Total
Research summaries	16	24%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:50 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615067

GARD

Genetic and Rare Diseases Info Center

GARD:15902

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 20

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 20

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