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primary ciliary dyskinesia 32 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 32

MONDO:0014657

Also known as:CILD32RSPH3 primary ciliary dyskinesiaciliary dyskinesia, primary, type 32

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene.

GeneticsAutosomal recessive · RSPH3 (chr 6)

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, Decreased nasal nitric oxide, and Chronic sinusitis and others; and common findings: Infertility and Neonatal respiratory distress. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Bronchiectasis, Absent respiratory ciliary axoneme radial spokes, Chronic pulmonary obstruction

Genetic Landscape

RSPH3 function has not been fully characterized.

Primary ciliary dyskinesia 32 is caused by mutations in the RSPH3 gene on chromosome 6.

Diagnosis

Genetic testing for RSPH3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 32 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 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 32.

35 publications have been identified in PubMed for primary ciliary dyskinesia 32. Research spans Epidemiology / Natural History (29%), Case Report / Case Series (26%), and Diagnostic / Biomarker (23%).

Research Type	Count	% of Total
Disease patterns and progression	10	29%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616481

GARD

Genetic and Rare Diseases Info Center

GARD:16122

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 32

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 32

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