Wolcott-Rallison Syndrome (EIF2AK3)

Wolcott-Rallison Syndrome is a rare autosomal recessive disorder caused by pathogenic variants in the gene EIF2AK3. This disorder is typically characterized by neonatal or early-infancy insulin-dependent diabetes. Later, epiphyseal dysplasia, osteoporosis, and growth delays occur. Hepatic and renal dysfunction, intellectual disability, and cardiovascular abnormalities have been observed as well. Life expectancy may be reduced due to renal insufficiency, sequelae of poorly controlled diabetes, and multiorgan failure. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):