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primary ciliary dyskinesia 5 (CILD5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 5

MONDO:0012088

Also known as:CILD5HYDIN primary ciliary dyskinesiaciliary dyskinesia, primary, type 5

Overview

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

GeneticsAutosomal recessive · HYDIN (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 always present findings: Chronic rhinitis, Bronchiectasis, Bronchial wall thickening, and Reduced sperm motility and others; and very common findings: Neonatal respiratory distress. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	8	Bronchiectasis, Bronchial wall thickening, Respiratory insufficiency due to defective ciliary clearance

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.

HYDIN encodes HYDIN axonemal central pair apparatus protein (5,121 aa). Required for ciliary motility Highest expression in Testis (5.1 TPM) and Pituitary (2.3 TPM).

Primary ciliary dyskinesia 5 is caused by mutations in the HYDIN gene on chromosome 16.

HYDIN is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for primary ciliary dyskinesia 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 9 always present features, 1 very common feature.

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 5.

161 publications have been identified in PubMed for primary ciliary dyskinesia 5. Research spans Epidemiology / Natural History (29%), Case Report / Case Series (23%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Disease patterns and progression	46	29%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608647

GARD

Genetic and Rare Diseases Info Center

GARD:15438

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 5

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 5

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