Features include always present findings: Delayed eruption of teeth, Large fontanelles, Hypoplasia of the primary teeth, and Fine hair and others; and common findings: 3-4 finger cutaneous syndactyly, Cataract, Deeply set eye, and Global developmental delay and others. 47 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, autosomal recessive 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: 6 always present features, 11 common features.

No clinical trials have been registered for oculodentodigital dysplasia, autosomal recessive.

3 publications have been identified in PubMed for oculodentodigital dysplasia, autosomal recessive. Research spans Case Report / Case Series (100%).

Recent Publications

• Abhishek K (2026). [PMID: 41853139](https://pubmed.ncbi.nlm.nih.gov/41853139/). *Front Genet*. [Case Report / Case Series]

• Sarma GR (2025). [PMID: 39934002](https://pubmed.ncbi.nlm.nih.gov/39934002/). *Ann Indian Acad Neurol*. [Case Report / Case Series]

• Andrade Azevedo de Vasconcelos A (2025). [PMID: 39833124](https://pubmed.ncbi.nlm.nih.gov/39833124/). *Ophthalmic Genet*. [Case Report / Case Series]