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primary ciliary dyskinesia 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 27

MONDO:0014215

Also known as:CCDC65 primary ciliary dyskinesiaCILD27ciliary dyskinesia, primary, type 27

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene.

GeneticsAutosomal recessive · DRC2 (chr 12)

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: Bronchiectasis, Decreased nasal nitric oxide, Recurrent otitis media, and Recurrent respiratory infections; and common findings: Chronic sinusitis and Neonatal respiratory distress. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	5	Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent respiratory infections

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DRC2 encodes dynein regulatory complex subunit 2 (484 aa). Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Highest expression in Testis (59.1 TPM) and Pituitary (5.5 TPM).

Primary ciliary dyskinesia 27 is caused by mutations in the DRC2 gene on chromosome 12.

DRC2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DRC2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 27 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 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 27.

49 publications have been identified in PubMed for primary ciliary dyskinesia 27. Research spans Epidemiology / Natural History (29%), Diagnostic / Biomarker (22%), and Basic Science / Preclinical (18%).

Research Type	Count	% of Total
Disease patterns and progression	14	29%

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

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615504

GARD

Genetic and Rare Diseases Info Center

GARD:15976

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 27

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 27

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