Features include always present findings: Decreased nasal nitric oxide, Absent inner dynein arms, Absent outer dynein arms, and Immotile cilia; and very common findings: Recurrent sinusitis, Rhinitis, and Neonatal respiratory distress. 15 total HPO annotations.

DNAAF5 encodes dynein axonemal assembly factor 5 (855 aa). Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. Highest expression in Uterus (23.6 TPM) and Cells Cultured fibroblasts (22.7 TPM).

Primary ciliary dyskinesia 18 is caused by mutations in the DNAAF5 gene on chromosome 7.

DNAAF5 is classified as a druggable target with score 0.0.

Genetic testing for DNAAF5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary ciliary dyskinesia 18 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 3 very common features, 3 common features.

No clinical trials have been registered for primary ciliary dyskinesia 18.

147 publications have been identified in PubMed for primary ciliary dyskinesia 18. Kisho has analyzed 81 by research type. Research spans Epidemiology / Natural History (32%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).