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primary ciliary dyskinesia 24 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 24

MONDO:0014202

Also known as:CILD24RSPH1 primary ciliary dyskinesiaciliary dyskinesia, primary, type 24

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene.

GeneticsAutosomal recessive · RSPH1 (chr 21)

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: Infertility; and very common findings: Chronic rhinitis, Decreased nasal nitric oxide, and Recurrent sinusitis. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Bronchiectasis, Chronic pulmonary obstruction, Neonatal respiratory distress

Genetic Landscape

RSPH1 function has not been fully characterized.

Primary ciliary dyskinesia 24 is caused by mutations in the RSPH1 gene on chromosome 21.

Diagnosis

Genetic testing for RSPH1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 24 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 3 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 24.

47 publications have been identified in PubMed for primary ciliary dyskinesia 24. Research spans Case Report / Case Series (25%), Epidemiology / Natural History (23%), and Clinical Trial Publication (16%).

Research Type	Count	% of Total
Patient case studies	11	25%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615481

GARD

Genetic and Rare Diseases Info Center

GARD:15971

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 24

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

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Recent Publications

primary ciliary dyskinesia 24

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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