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primary ciliary dyskinesia 7 (CILD7) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 7

MONDO:0012748

Also known as:CILD7DNAH11 primary ciliary dyskinesiaciliary dyskinesia, primary, type 7

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene.

GeneticsAutosomal recessive · DNAH11 (chr 7)

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, Dextrocardia, Bronchiectasis, and Decreased nasal nitric oxide and others; and very common findings: Recurrent pneumonia. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	Bronchiectasis, Abnormal axonemal organization of respiratory motile cilia, Restrictive ventilatory defect

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.

DNAH11 encodes dynein axonemal heavy chain 11 (4,516 aa). Force generating protein required for cilia beating in respiratory epithelia. Produces force towards the minus ends of microtubules. Highest expression in Esophagus Muscularis (3.4 TPM) and Adrenal Gland (3.3 TPM).

Primary ciliary dyskinesia 7 is caused by mutations in the DNAH11 gene on chromosome 7.

DNAH11 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for DNAH11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 7 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 1 very common feature, 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 7.

195 publications have been identified in PubMed for primary ciliary dyskinesia 7. Kisho has analyzed 149 by research type. Research spans Epidemiology / Natural History (27%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Disease patterns and progression	40	27%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611884

GARD

Genetic and Rare Diseases Info Center

GARD:15533

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 7

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 7

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