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primary ciliary dyskinesia 33 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 33

MONDO:0014750

Also known as:CILD33GAS8 primary ciliary dyskinesiaciliary dyskinesia, primary, 33

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene.

GeneticsAutosomal recessive · DRC4 (chr 16)

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: Chronic rhinitis, Ciliary dyskinesia, Recurrent lower respiratory tract infections, and Bronchiectasis and 6 more.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent bronchitis

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.

DRC4 encodes dynein regulatory complex subunit 4 (478 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 Pituitary (28.6 TPM) and Thyroid (26.3 TPM).

Primary ciliary dyskinesia 33 is caused by mutations in the DRC4 gene on chromosome 16.

DRC4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DRC4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 33 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 33.

34 publications have been identified in PubMed for primary ciliary dyskinesia 33. Research spans Epidemiology / Natural History (29%), Case Report / Case Series (21%), and Basic Science / Preclinical (18%).

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

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616726

GARD

Genetic and Rare Diseases Info Center

GARD:16154

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 33

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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 33

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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