• IPEX syndrome: diffuse autoimmunity• Mitochondrial disease• Severe pancreatic hypoplasia associated with IPF1 (PDX1) mutation• Homozygous glucokinase mutation: insensitivity to glucose• Associated with epiphyseal dysplasia: Wolcott Rallison syndrome• Possibly associated with enterovirus infection• Association with cerebellar hypoplasia and PTF1A mutation• Association with hypothyroidism, glaucoma and GLIS3 mutation. This evidence concerns the gene GLIS3 and mitochondrial disease.