Features include always present findings: Joint hypermobility, Weak and brittle bones (osteoporosis), and Disproportionate short-limb short stature; and very common findings: Bowing of the legs. 18 total HPO annotations.

KDELR2 encodes KDEL endoplasmic reticulum protein retention receptor 2 (212 aa). Membrane receptor that binds the K-D-E-L sequence motif in the C-terminal part of endoplasmic reticulum resident proteins and maintains their localization in that compartment by participating to their vesicle-mediated recycling back from the Golgi. Highest expression in Cells Cultured fibroblasts (441.6 TPM) and Artery Aorta (226.8 TPM).

Osteogenesis imperfecta, type 21 is associated with mutations in the KDELR2 gene on chromosome 7.

KDELR2 is classified as a druggable target with score 0.0.

Genetic testing for KDELR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for osteogenesis imperfecta, type 21 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 1 very common feature, 6 common features.

No clinical trials have been registered for osteogenesis imperfecta, type 21.

60 publications have been identified in PubMed for osteogenesis imperfecta, type 21. Research spans Epidemiology / Natural History (38%), Review / Meta-Analysis (17%), and Clinical Trial Publication (13%).