maturity onset diabetes of the young type 6
maturity onset diabetes of the young type 6
An autosomal dominant (OMIM:606394) condition characterised by diabetes of childhood or early-adulthood onset (usually before 25 years of age), a primary defect in insulin secretion and insulin-independence at the beginning of the disease.Molecular pathology
Caused by defects in NEUROD1, which encodes a protein that regulates cell differentiation pathways, including for early retinal ganglion cells, inner ear sensory neurons, granule cells forming the cerebellum or dentate gyrus cell layer of the hippocampus, islet cells of the pancreas, and enteroendocrine cells of the small intestine.