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primary ciliary dyskinesia 2 (CILD2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 2

MONDO:0011718

Also known as:CILD2DNAAF3 primary ciliary dyskinesiaciliary dyskinesia, primary, type 2

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene.

GeneticsAutosomal recessive · DNAAF3 (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 sometimes findings: Hearing loss (hearing impairment). 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Respiratory distress, Bronchiectasis, Recurrent respiratory infections
Ears

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.

DNAAF3 encodes dynein axonemal assembly factor 3 (541 aa). Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia Highest expression in Testis (90.4 TPM) and Fallopian Tube (3.5 TPM).

Primary ciliary dyskinesia 2 is caused by mutations in the DNAAF3 gene on chromosome 19.

DNAAF3 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAAF3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 2 has been reported in the published literature.

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 2.

258 publications have been identified in PubMed for primary ciliary dyskinesia 2. Kisho has analyzed 103 by research type. Research spans Epidemiology / Natural History (31%), Case Report / Case Series (16%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Disease patterns and progression	32	31%

Data assembled from 6 of 12 sources · Last updated Sep 17, 2026, 11:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:606763

GARD

Genetic and Rare Diseases Info Center

GARD:15400

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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Kisho

primary ciliary dyskinesia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Pulmonary exacerbations in primary ciliary dyskinesia.

Clinical Outcomes of Chronic Airway Infection in Primary Ciliary Dyskinesia.

Hepatocyte Growth Factor in Children of Primary Ciliary Dyskinesia and Its Relation to Disease Severity. A case-control study.

primary ciliary dyskinesia 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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

Latest News & Developments

Pulmonary exacerbations in primary ciliary dyskinesia.

Clinical Outcomes of Chronic Airway Infection in Primary Ciliary Dyskinesia.

Hepatocyte Growth Factor in Children of Primary Ciliary Dyskinesia and Its Relation to Disease Severity. A case-control study.