Features include always present findings: Rhizomelia, Short stature, Decreased calvarial ossification, and Prolonged bleeding time and others. 23 total HPO annotations.

CREB3L1 encodes cAMP responsive element binding protein 3 like 1 (519 aa). Precursor of the transcription factor form (Processed cyclic AMP-responsive element-binding protein 3-like protein 1), which is embedded in the endoplasmic reticulum membrane with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. Highest expression in Cells Cultured fibroblasts (103.5 TPM) and Minor Salivary Gland (83.5 TPM).

Osteogenesis imperfecta type 16 is associated with mutations in the CREB3L1 gene on chromosome 11.

The CREB3L1 protein participates in CREB3L1 translocates from the cytosol to the nucleus, CREB3L1 translocates from the endoplasmic reticulum membrane to the Golgi membrane, and CREB3 factors activate genes pathways.

CREB3L1 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 0.0.

Genetic testing for CREB3L1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta type 16 has been reported in the published literature.

Phenotype severity distribution: 19 always present features.

No clinical trials have been registered for osteogenesis imperfecta type 16.

65 publications have been identified in PubMed for osteogenesis imperfecta type 16. Research spans Case Report / Case Series (25%), Epidemiology / Natural History (25%), and Basic Science / Preclinical (15%).