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primary ciliary dyskinesia 22 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 22

MONDO:0014192

Also known as:CILD22ZMYND10 primary ciliary dyskinesiaciliary dyskinesia, primary, type 22

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene.

GeneticsAutosomal recessive · ZMYND10 (chr 3)

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 and Immotile cilia; and very common findings: Absent inner and outer dynein arms, Rhinitis, and Neonatal respiratory distress. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections

Genetic Landscape

ZMYND10 function has not been fully characterized.

Primary ciliary dyskinesia 22 is caused by mutations in the ZMYND10 gene on chromosome 3.

Diagnosis

Genetic testing for ZMYND10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 22 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 3 very common features, 5 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 22.

145 publications have been identified in PubMed for primary ciliary dyskinesia 22. Research spans Epidemiology / Natural History (23%), Review / Meta-Analysis (23%), and Case Report / Case Series (19%).

Research Type	Count	% of Total
Disease patterns and progression	34	23%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:16 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615444

GARD

Genetic and Rare Diseases Info Center

GARD:15968

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 22

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primary ciliary dyskinesia 22

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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