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primary ciliary dyskinesia 6 (CILD6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary ciliary dyskinesia 6

MONDO:0012571

Also known as:CILD6NME8 primary ciliary dyskinesiaciliary dyskinesia, primary, type 6

Overview

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the NME8 gene.

GeneticsAutosomal recessive · NME8 (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: Ciliary dyskinesia, Absent/shortened outer dynein arms, Abnormal ciliary motility, and Abnormal respiratory motile cilium morphology and 3 more.

Organ System	Phenotype Count	Example Features
Lungs and breathing	2	Abnormal respiratory motile cilium morphology, 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.

NME8 encodes NME/NM23 family member 8 (588 aa). Possesses an intrinsic kinase activity. In vitro, does not exhibit nucleoside diphosphate kinase (NDPK) activity or disulfide bond-reducing activity. Highest expression in Testis (14.5 TPM) and Whole Blood (5.0 TPM).

Primary ciliary dyskinesia 6 is associated with mutations in the NME8 gene on chromosome 7.

NME8 is classified as a druggable target (Druggable Genome, Kinase, and Thioredoxin categories) with score 0.0.

Diagnosis

Genetic testing for NME8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 6 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 6.

137 publications have been identified in PubMed for primary ciliary dyskinesia 6. Kisho has analyzed 75 by research type. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (28%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Disease patterns and progression	22	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610852

GARD

Genetic and Rare Diseases Info Center

GARD:15502

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 6

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 6

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