Features include always present findings: Kyphoscoliosis, Short stature, Joint hypermobility, and Blue sclerae and others; and sometimes findings: Elevated circulating alkaline phosphatase concentration, Coxa vara, Dentinogenesis imperfecta, and Wormian bones. 20 total HPO annotations.

FKBP10 encodes FKBP prolyl isomerase 10 (582 aa). PPIases accelerate the folding of proteins during protein synthesis Highest expression in Cells Cultured fibroblasts (536.7 TPM) and Artery Aorta (242.2 TPM).

Osteogenesis imperfecta type 11 is associated with mutations in the FKBP10 gene on chromosome 17.

The FKBP10 protein participates in Proline hydroxylases hydroxylate Polyprotein pathway.

FKBP10 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for FKBP10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta type 11 has been reported in the published literature.

Phenotype severity distribution: 8 always present features.

No clinical trials have been registered for osteogenesis imperfecta type 11.

54 publications have been identified in PubMed for osteogenesis imperfecta type 11. Research spans Basic Science / Preclinical (39%), Case Report / Case Series (24%), and Epidemiology / Natural History (19%).