Wolcott-Rallison syndrome abbreviated as WRS is a rare, autosomal recessive disorder with infancy-onset diabetes mellitus

Diabetes mellitus

Diabetes mellitus, often simply referred to as diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the body does not produce enough insulin, or because cells do not respond to the insulin that is produced...

, multiple epiphyseal dysplasia, osteopenia

Osteopenia

Osteopenia is a condition where bone mineral density is lower than normal. It is considered by many doctors to be a precursor to osteoporosis. However, not every person diagnosed with osteopenia will develop osteoporosis...

, mental retardation

Mental retardation

Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...

 or developmental delay, and hepatic and renal dysfunction

Renal failure

Renal failure or kidney failure describes a medical condition in which the kidneys fail to adequately filter toxins and waste products from the blood...

 as main clinical findings. Patients with WRS have mutations in the EIF2AK3

EIF2AK3

Eukaryotic translation initiation factor 2-alpha kinase 3 is an enzyme that in humans is encoded by the EIF2AK3 gene. Patients with mutations in this gene develop Wolcott-Rallison syndrome.-Interactions:...

 gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

, which encodes the pancreatic eukaryotic translation initiation factor 2-alpha kinase 3.