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primary ciliary dyskinesia 34 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 34

MONDO:0014909

Also known as:CILD34DNAJB13 primary ciliary dyskinesiaciliary dyskinesia, primary, 34

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene.

GeneticsAutosomal recessive · DNAJB13 (chr 11)

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: Chronic rhinitis, Bronchiectasis, Male infertility, and Decreased nasal nitric oxide and others; and common findings: Recurrent bronchitis and Neonatal respiratory distress. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Absent central microtubular pair morphology of respiratory motile cilia, Bronchiectasis, Reduced respiratory ciliary beating frequency

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.

DNAJB13 encodes DnaJ heat shock protein family (Hsp40) member B13 (316 aa). Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia Highest expression in Testis (7.8 TPM) and Fallopian Tube (3.2 TPM).

Primary ciliary dyskinesia 34 has been associated with mutations in the DNAJB13 gene on chromosome 11.

DNAJB13 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAJB13 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 34 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 always present features, 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 34.

30 publications have been identified in PubMed for primary ciliary dyskinesia 34. Research spans Case Report / Case Series (37%), Epidemiology / Natural History (33%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	11	37%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 2:19 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617091

GARD

Genetic and Rare Diseases Info Center

GARD:16187

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 34

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 34

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