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primary ciliary dyskinesia 30 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 30

MONDO:0014465

Also known as:CCDC151 primary ciliary dyskinesiaCILD30ciliary dyskinesia, primary, type 30

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene.

GeneticsAutosomal recessive · ODAD3 (chr 19)

OnsetNEONATAL

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: Decreased nasal nitric oxide and Ciliary dyskinesia; and very common findings: Difficulty breathing (respiratory insufficiency) and Recurrent respiratory infections. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	6	Asthma, Bronchiectasis, Difficulty breathing (respiratory insufficiency)

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.

ODAD3 encodes outer dynein arm docking complex subunit 3 (595 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 (27.9 TPM) and Pituitary (12.6 TPM).

Primary ciliary dyskinesia 30 is caused by mutations in the ODAD3 gene on chromosome 19.

ODAD3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ODAD3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 30 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 5 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 30.

55 publications have been identified in PubMed for primary ciliary dyskinesia 30. Research spans Epidemiology / Natural History (31%), Basic Science / Preclinical (24%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Disease patterns and progression	17	31%

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:616037

GARD

Genetic and Rare Diseases Info Center

GARD:16052

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 30

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 30

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