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primary ciliary dyskinesia 35 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 35

MONDO:0014910

Also known as:CILD35TTC25 primary ciliary dyskinesiaciliary dyskinesia, primary, 35

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene.

GeneticsAutosomal recessive · ODAD4 (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: Chronic rhinitis, Bronchiectasis, Decreased nasal nitric oxide, and Nasal polyposis and others; and common findings: Situs inversus totalis, Abdominal situs ambiguus, and Neonatal respiratory distress.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Bronchiectasis, Recurrent pneumonia, Neonatal respiratory distress

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.

ODAD4 encodes outer dynein arm docking complex subunit 4 (672 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 (103.0 TPM) and Pituitary (12.0 TPM).

Primary ciliary dyskinesia 35 is caused by mutations in the ODAD4 gene on chromosome 17.

ODAD4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ODAD4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 35 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 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 35.

34 publications have been identified in PubMed for primary ciliary dyskinesia 35. Research spans Epidemiology / Natural History (41%), Case Report / Case Series (24%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Disease patterns and progression	14	41%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617092

GARD

Genetic and Rare Diseases Info Center

GARD:16188

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 35

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 35

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