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primary ciliary dyskinesia 16 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 16

MONDO:0013525

Also known as:CILD16DNAL1 primary ciliary dyskinesiaciliary dyskinesia, primary, type 16

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene.

GeneticsAutosomal recessive · DNAL1 (chr 14)

OnsetCONGENITAL

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, Situs inversus totalis, Absent outer dynein arms, and Abnormal ciliary motility and others; and common findings: Bronchiectasis. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Ciliary dyskinesia

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.

DNAL1 encodes dynein axonemal light chain 1 (190 aa). Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency. Component of the outer arm dynein (ODA). Highest expression in Testis (12.4 TPM) and Brain Cerebellar Hemisphere (10.2 TPM).

Primary ciliary dyskinesia 16 is caused by mutations in the DNAL1 gene on chromosome 14.

DNAL1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 16 has been reported in the published literature.

Prognosis

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

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 16.

143 publications have been identified in PubMed for primary ciliary dyskinesia 16. Kisho has analyzed 51 by research type. Research spans Epidemiology / Natural History (29%), Case Report / Case Series (24%), and Diagnostic / Biomarker (18%).

Research Type	Count	% of Total
Disease patterns and progression	15	29%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614017

GARD

Genetic and Rare Diseases Info Center

GARD:15743

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 16

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 16

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