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primary ciliary dyskinesia 1 (CILD1) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Chronic sinusitis, Atelectasis, Absent outer dynein arms, and Immotile cilia and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Bronchiectasis, Pneumonia, Recurrent bronchitis
Brain and nerves	3	Ciliary dyskinesia, Headache, Communicating hydrocephalus
Ears	2	Conductive hearing impairment, Chronic otitis media
Hormones	1	Male infertility
Eyes	1	Abnormal cornea morphology

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.

1 clinical trial registered. Interventions under study include gene therapy. Research is primarily industry-sponsored.

131 publications have been identified in PubMed for primary ciliary dyskinesia 1. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (24%), and Basic Science / Preclinical (21%).

Research Type	Count	% of Total
Research summaries	30	25%
Patient case studies	29	24%
Laboratory research	25	21%
Disease patterns and progression	22	18%
Testing and diagnosis research	8	7%
New treatment approaches	4	3%
Other research	1	1%

Recent Publications

Guo C (2026). [PMID: 42260890](https://pubmed.ncbi.nlm.nih.gov/42260890/). *Medicine (Baltimore)*. [Case Report / Case Series]
Wåhlander J (2026). [PMID: 41582098](https://pubmed.ncbi.nlm.nih.gov/41582098/). *Lung*. [Basic Science / Preclinical]
Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Case Report / Case Series]
Kapania EM (2026). [PMID: 28846277](https://pubmed.ncbi.nlm.nih.gov/28846277/). *Unknown Journal*. [Basic Science / Preclinical]
Kaspi E (2026). [PMID: 41827979](https://pubmed.ncbi.nlm.nih.gov/41827979/). *Diagnostics (Basel)*. [Diagnostic / Biomarker]
Schofield L (2026). [PMID: 41964363](https://pubmed.ncbi.nlm.nih.gov/41964363/). *Physiother Theory Pract*. [Epidemiology / Natural History]
Horani A (2026). [PMID: 42026914](https://pubmed.ncbi.nlm.nih.gov/42026914/). *Pediatr Pulmonol*. [Review / Meta-Analysis]
Ma R (2026). [PMID: 42216596](https://pubmed.ncbi.nlm.nih.gov/42216596/). *Br J Hosp Med (Lond)*. [Case Report / Case Series]
Thawanaphong S (2026). [PMID: 42104487](https://pubmed.ncbi.nlm.nih.gov/42104487/). *Allergy Asthma Clin Immunol*. [Epidemiology / Natural History]
Harman K (2026). [PMID: 41889169](https://pubmed.ncbi.nlm.nih.gov/41889169/). *Pediatr Pulmonol*. [Review / Meta-Analysis]

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primary ciliary dyskinesia 1

Overview

Clinical Presentation

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Genetic Landscape

Diagnosis

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Research Landscape

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External Resources

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Questions for Your Care Team

primary ciliary dyskinesia 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team