What is Monogenic Diabetes?

The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes. But some rare forms of diabetes result from mutations in a single gene and are called monogenic.

Monogenic forms of diabetes may account for about 1 to 2 percent of all cases of diabetes in young people. In some cases of monogenic diabetes, the gene mutation is inherited; but in others, the gene mutation develops spontaneously. Most mutations in monogenic diabetes reduce the body's ability to produce insulin, a protein produced in the pancreas that is essential for the body to use glucose for energy. As a result, monogenic diabetes can easily be mistaken for type 1 diabetes.

Types of monogenic diabetes
Permanent neonatal diabetes mellitus (PND), transient neonatal diabetes (TND), and maturity-onset diabetes of the young (MODY) are the main forms of monogenic diabetes. These forms of diabetes can include a group of different genes; some respond to treatment, while others are mild and should not be treated. MODY is the more common form. PND and TND first occur in newborns and young infants; MODY usually first occurs in children or adolescents but may be mild and not detected until adulthood.

Genetic testing can diagnose many forms of monogenic diabetes. If a diagnosis based on genetic testing is not made, people with monogenic diabetes may appear to have type 1 or type 2 diabetes.

Learn more about monogenic diabetes from the National Institutes of Health (NIH).