Features include always present findings: Uveitis and Microphthalmia; and very common findings: Microcornea, Joint contracture of the 5th finger, Cleft palate, and Narrow nasal bridge and others. 100 total HPO annotations.

GJA1 encodes gap junction protein alpha 1 (382 aa). Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells. Highest expression in Skin Not Sun Exposed Suprapubic (485.1 TPM) and Adrenal Gland (439.8 TPM).

Oculodentodigital dysplasia is associated with mutations in the GJA1 gene on chromosome 6.

The GJA1 protein participates in p-S373-GJA1:p-S-ITGA5:ITGB1 (p-S373-Connexin-43:p-S-Integrin alpha5:Integrin beta1) transports ATP from the cytosol to the extracellular region pathway.

GJA1 is classified as a druggable target (Ion Channel category) with score 0.6.

Genetic testing for GJA1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 15 very common features, 43 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for oculodentodigital dysplasia.

10 publications have been identified in PubMed for oculodentodigital dysplasia. Research spans Case Report / Case Series (50%), Other (20%), and Review / Meta-Analysis (10%).