Features include always present findings: Short metacarpal, Mild bone density loss (osteopenia), Disproportionate short-limb short stature, and Recurrent fractures and others; and common findings: Wide anterior fontanel, Decreased calvarial ossification, Sideways curvature of the spine (scoliosis), and Joint hypermobility and others. 27 total HPO annotations.

P3H1 encodes prolyl 3-hydroxylase 1 (736 aa). Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Highest expression in Cells Cultured fibroblasts (107.0 TPM) and Pituitary (59.0 TPM).

Osteogenesis imperfecta type 8 is associated with mutations in the P3H1 gene on chromosome 1.

The P3H1 protein participates in Collagen prolyl 3-hydroxylase converts 4-Hyp collagen to 3,4-Hyp collagen pathway.

P3H1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for P3H1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta type 8 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 5 common features.

No clinical trials have been registered for osteogenesis imperfecta type 8.

77 publications have been identified in PubMed for osteogenesis imperfecta type 8. Research spans Epidemiology / Natural History (27%), Basic Science / Preclinical (23%), and Case Report / Case Series (18%).