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primary ciliary dyskinesia 23 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 23

MONDO:0014193

Also known as:ARMC4 primary ciliary dyskinesiaCILD23ciliary dyskinesia, primary, type 23

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene.

GeneticsAutosomal recessive · ODAD2 (chr 10)

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 common findings: Chronic rhinitis, Situs inversus totalis, Bronchiectasis, and Recurrent otitis media and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Respiratory insufficiency due to defective ciliary clearance, Bronchiectasis, Recurrent pneumonia

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.

ODAD2 encodes outer dynein arm docking complex subunit 2 (1,044 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 (33.3 TPM) and Pituitary (5.9 TPM).

Primary ciliary dyskinesia 23 is caused by mutations in the ODAD2 gene on chromosome 10.

ODAD2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ODAD2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 23 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 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 23.

134 publications have been identified in PubMed for primary ciliary dyskinesia 23. Research spans Case Report / Case Series (25%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (22%).

Research Type	Count	% of Total
Patient case studies	33	25%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 10:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615451

GARD

Genetic and Rare Diseases Info Center

GARD:15969

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 23

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 23

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