Features include always present findings: Mild intellectual disability, Type I diabetes mellitus, Proportionate short stature, and Delayed eruption of permanent teeth and others; and common findings: Cone-shaped epiphyses of the phalanges of the hand, Mild bone density loss (osteopenia), Sideways curvature of the spine (scoliosis), and Premature loss of teeth and others. 26 total HPO annotations.

MIA3 encodes MIA SH3 domain ER export factor 3 (1,907 aa). Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. Highest expression in Cells Cultured fibroblasts (26.8 TPM) and Brain Cerebellar Hemisphere (25.8 TPM).

Odontochondrodysplasia 2 with hearing loss and diabetes is associated with mutations in the MIA3 gene on chromosome 1.

The MIA3 protein participates in MIA2 and MIA3 dissociate from procollagen VII vesicle, MIA2 and MIA3 load procollagen VII into COPII vesicles, and Cargo concentration in the ER pathways.

MIA3 is classified as a druggable target with score 0.0.

Genetic testing for MIA3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for odontochondrodysplasia 2 with hearing loss and diabetes has been reported in the published literature.

Phenotype severity distribution: 15 always present features, 7 common features.

No clinical trials have been registered for odontochondrodysplasia 2 with hearing loss and diabetes.

135 publications have been identified in PubMed for odontochondrodysplasia 2 with hearing loss and diabetes. Research spans Epidemiology / Natural History (47%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (13%).