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primary ciliary dyskinesia 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 12

MONDO:0012979

Also known as:CILD12RSPH9 primary ciliary dyskinesiaciliary dyskinesia, primary, type 12

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.

GeneticsAutosomal recessive · RSPH9 (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; and very common findings: Chronic rhinitis, Bronchiectasis, Decreased nasal nitric oxide, and Chronic sinusitis. 15 total HPO annotations.

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

Genetic Landscape

RSPH9 function has not been fully characterized.

Primary ciliary dyskinesia 12 is caused by mutations in the RSPH9 gene on chromosome 6.

Diagnosis

Genetic testing for RSPH9 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 12 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 4 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 12.

104 publications have been identified in PubMed for primary ciliary dyskinesia 12. Kisho has analyzed 79 by research type. Research spans Epidemiology / Natural History (33%), Case Report / Case Series (19%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Disease patterns and progression	26	33%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 11:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612650

GARD

Genetic and Rare Diseases Info Center

GARD:15575

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 12

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 12

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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