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primary ciliary dyskinesia 9 (CILD9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 9

MONDO:0012906

Also known as:CILD9DNAI2 primary ciliary dyskinesiaciliary dyskinesia, primary, type 9

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene.

GeneticsAutosomal recessive · DNAI2 (chr 17)

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, Chronic sinusitis, Absent outer dynein arms, and Recurrent otitis media and others; and very common findings: Bronchiectasis. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Bronchiectasis, 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.

DNAI2 encodes dynein axonemal intermediate chain 2 (605 aa). Component of dynein, a family of motor proteins essential for movement along microtubules. Required for structural and functional integrity of cilia. Part of the dynein complex of respiratory cilia Highest expression in Testis (57.9 TPM) and Fallopian Tube (5.7 TPM).

Primary ciliary dyskinesia 9 is caused by mutations in the DNAI2 gene on chromosome 17.

DNAI2 is classified as a druggable target (External Side Of Plasma Membrane category) with score 0.0.

Diagnosis

Genetic testing for DNAI2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 9 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 1 very common feature, 2 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 9.

165 publications have been identified in PubMed for primary ciliary dyskinesia 9. Research spans Epidemiology / Natural History (25%), Review / Meta-Analysis (20%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Disease patterns and progression	39	25%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612444

GARD

Genetic and Rare Diseases Info Center

GARD:15558

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 9

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 9

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