Features include always present findings: Epiphyseal dysplasia and Insulin-resistant diabetes mellitus. 36 total HPO annotations.

EIF2AK3 encodes eukaryotic translation initiation factor 2 alpha kinase 3 (1,116 aa). Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress, such as unfolded protein response (UPR). Highest expression in Cells EBV-transformed lymphocytes (45.2 TPM) and Minor Salivary Gland (27.3 TPM).

Wolcott-Rallison syndrome is associated with mutations in the EIF2AK3 gene on chromosome 2.

The EIF2AK3 protein participates in EIF2AK3(30-144)-ALK(1058-1620) fusion, EIF2AK3(30-144)-p-7Y-ALK(1058-1620) fusion, and ALK mutants bind type I TKIs pathways.

EIF2AK3 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Tyrosine Kinase categories) with score 34.8.

Genetic testing for EIF2AK3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features.

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

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

14 publications have been identified in PubMed for Wolcott-Rallison syndrome. Research spans Case Report / Case Series (71%), Basic Science / Preclinical (14%), and Review / Meta-Analysis (7%).