Features include sometimes findings: Liver scarring (fibrosis) (hepatic fibrosis), Ventricular septal defect, Pachygyria, and Cerebellar vermis hypoplasia and others; and rarely findings: Motor delay, Retinal dystrophy, Delayed speech and language development, and Tricuspid regurgitation and others. 40 total HPO annotations.

NEK1 encodes NIMA related kinase 1 (1,258 aa). Phosphorylates serines and threonines, but also appears to possess tyrosine kinase activity. Involved in DNA damage checkpoint control and for proper DNA damage repair. Highest expression in Nerve Tibial (63.9 TPM) and Testis (14.3 TPM).

Short-rib thoracic dysplasia 6 with or without polydactyly is associated with mutations in the NEK1 gene on chromosome 4.

The NEK1 protein participates in ATR activation at DNA DSBs and ME1 tetramerizes pathways.

NEK1 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Tyrosine Kinase categories) with score 0.0.

Genetic testing for NEK1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for short-rib thoracic dysplasia 6 with or without polydactyly has been reported in the published literature.

No clinical trials have been registered for short-rib thoracic dysplasia 6 with or without polydactyly.

207 publications have been identified in PubMed for short-rib thoracic dysplasia 6 with or without polydactyly. Research spans Case Report / Case Series (39%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).