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primary ciliary dyskinesia 4 (CILD4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 4

MONDO:0012087

Also known as:CILD4primary ciliary dyskinesia 4 with or without situs inversusprimary ciliary dyskinesia type 4

Overview

A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1.

Diagnosis

Biomarker and diagnostic research for primary ciliary dyskinesia 4 has been reported in the published literature.

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 4.

197 publications have been identified in PubMed for primary ciliary dyskinesia 4. Kisho has analyzed 123 by research type. Research spans Epidemiology / Natural History (29%), Case Report / Case Series (18%), and Diagnostic / Biomarker (15%).

Research Type	Count	% of Total
Disease patterns and progression	36	29%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608646

GARD

Genetic and Rare Diseases Info Center

GARD:15437

Questions for Your Care Team

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primary ciliary dyskinesia 4

Overview

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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