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primary ciliary dyskinesia 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 19

MONDO:0013979

Also known as:CILD19LRRC6 primary ciliary dyskinesiaciliary dyskinesia, primary, type 19

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene.

GeneticsAutosomal recessive · DNAAF11 (chr 8)

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: Male infertility and Immotile cilia; and very common findings: Recurrent sinusitis, Rhinitis, and Chronic bronchitis. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections

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.

DNAAF11 encodes dynein axonemal assembly factor 11 (466 aa). Involved in dynein arm assembly, is important for expression and transporting outer dynein arm (ODA) proteins from the cytoplasm to the cilia. Highest expression in Testis (32.1 TPM) and Thyroid (10.5 TPM).

Primary ciliary dyskinesia 19 is caused by mutations in the DNAAF11 gene on chromosome 8.

DNAAF11 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAAF11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 19 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 very common features, 4 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 19.

140 publications have been identified in PubMed for primary ciliary dyskinesia 19. Research spans Case Report / Case Series (27%), Review / Meta-Analysis (23%), and Epidemiology / Natural History (19%).

Research Type	Count	% of Total
Patient case studies	38	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614935

GARD

Genetic and Rare Diseases Info Center

GARD:15883

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 19

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 19

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

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