Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected.

Variants (also called mutations) in the EPG5 gene cause Vici syndrome. This gene provides instructions for making a protein that is involved in a cellular process called autophagy. Cells use this process to recycle or break down worn-out or unnecessary cell parts. Autophagy also helps cells use materials efficiently when energy demands are high. In addition to its role in autophagy, the EPG5 protein aids in the body's immune response to foreign invaders such as bacteria and viruses.

Vici syndrome is a rare disorder, though its exact prevalence is unknown. Approximately 100 individuals have been diagnosed with this condition.

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Published Date: August 28, 2023
Published By: National Institutes of Health