Features include always present findings: Sideways curvature of the spine (scoliosis), Short stature, Coronal craniosynostosis, and Popcorn calcification and others; and common findings: Dentinogenesis imperfecta, Frontal bossing, Wormian bones, and Micrognathia. 21 total HPO annotations.

P4HB encodes prolyl 4-hydroxylase subunit beta (508 aa). This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. Highest expression in Cells Cultured fibroblasts (1,253 TPM) and Pancreas (960.6 TPM).

Cole-Carpenter syndrome 1 is associated with mutations in the P4HB gene on chromosome 17.

The P4HB protein participates in ERO1B oxidizes P4HB, GPX7,8 catalyze peroxidation of P4HB (PDI), and P4HB mediates disulfide bond formation in Proinsulin pathways.

P4HB is classified as a druggable target (Druggable Genome, Enzyme, External Side Of Plasma Membrane, and Thioredoxin categories) with score 4.0.

Genetic testing for P4HB is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 11 always present features, 4 common features.

No clinical trials have been registered for Cole-Carpenter syndrome 1.

5 publications have been identified in PubMed for Cole-Carpenter syndrome 1. Research spans Review / Meta-Analysis (40%), Basic Science / Preclinical (40%), and Case Report / Case Series (20%).

Recent Publications

• Lu Y (2025). [PMID: 40065084](https://pubmed.ncbi.nlm.nih.gov/40065084/). *Commun Biol*. [Basic Science / Preclinical]

• Xu S (2025). [PMID: 39778777](https://pubmed.ncbi.nlm.nih.gov/39778777/). *Biochim Biophys Acta Mol Basis Dis*. [Basic Science / Preclinical]

• Ryhänen EM (2025). [PMID: 41128774](https://pubmed.ncbi.nlm.nih.gov/41128774/). *J Bone Miner Res*. [Case Report / Case Series]

• Cotti S (2025). [PMID: 41410595](https://pubmed.ncbi.nlm.nih.gov/41410595/). *Clin Sci (Lond)*. [Review / Meta-Analysis]

• Sillence DO (2024). [PMID: 38942908](https://pubmed.ncbi.nlm.nih.gov/38942908/). *Calcif Tissue Int*. [Review / Meta-Analysis]