Features include always present findings: Reduced kidney function (renal insufficiency), Focal segmental glomerulosclerosis, Polydipsia, and Hyperechogenic kidneys and others; and very common findings: Stage 5 chronic kidney disease and Hypertension. 12 total HPO annotations.

NEK8 encodes NIMA related kinase 8 (692 aa). Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia. Highest expression in Cells EBV-transformed lymphocytes (18.6 TPM) and Thyroid (18.3 TPM).

Polycystic kidney disease 8 is associated with mutations in the NEK8 gene on chromosome 17.

NEK8 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Genetic testing for NEK8 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for polycystic kidney disease 8 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 2 very common features, 2 common features.

No clinical trials have been registered for polycystic kidney disease 8.

202 publications have been identified in PubMed for polycystic kidney disease 8. Kisho has analyzed 95 by research type. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (16%).