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primary ciliary dyskinesia 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 11

MONDO:0012978

Also known as:CILD11RSPH4A primary ciliary dyskinesiaciliary dyskinesia, primary, type 11

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.

GeneticsAutosomal recessive · RSPH4A (chr 6)

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: Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia, and Immotile cilia; and very common findings: Chronic rhinitis, Decreased nasal nitric oxide, and Recurrent sinusitis. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent respiratory infections

Genetic Landscape

RSPH4A function has not been fully characterized.

Primary ciliary dyskinesia 11 is caused by mutations in the RSPH4A gene on chromosome 6.

Diagnosis

Genetic testing for RSPH4A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 3 very common 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 11.

92 publications have been identified in PubMed for primary ciliary dyskinesia 11. Research spans Case Report / Case Series (26%), Epidemiology / Natural History (24%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Patient case studies	24	26%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612649

GARD

Genetic and Rare Diseases Info Center

GARD:15574

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 11

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 11

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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