• 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. The gene discussed is PTF1A; the disease is inborn mitochondrial metabolism disorder.