National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Monogenic diabetes

Not a rare disease Not a rare disease
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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 [1][2]. Environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. Polygenic forms of diabetes often run in families. Doctors diagnose polygenic forms of diabetes by testing blood glucose in individuals with risk factors or symptoms of diabetes [1].

Some rare forms of diabetes result from mutations in a single gene and are called monogenic [1][2]. Monogenic forms of diabetes may account for about 1 to 5 percent of all cases of diabetes in young people [1]. In some cases of monogenic diabetes, the gene mutation is inherited; but in others, the gene mutation develops spontaneously [1][2]. 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 [1][2]. As a result, monogenic diabetes can easily be mistaken for type 1 diabetes [2].
Last updated: 9/23/2011
Genetic testing can diagnose many forms of monogenic diabetes. You might want to consider testing for monogenic diabetes if you or a family member was diagnosed with diabetes during the first six months of life; there is familial diabetes with a parent affected; there is mild fasting hyperglycemia (high blood sugar), especially if young or familial; and/or there is diabetes associated with extra pancreatic features.[3] 

Some tests that help differentiate monogenic diabetes from type 1 diabetes are simple and relatively inexpensive; parents of children who were diagnosed with type 1 diabetes at an early age should discuss with their physician whether such a test was conducted at the time of diagnosis, as such testing may not have been done[3].

A correct diagnosis that allows the proper treatment to be selected should lead to better glucose control and improved health in the long term. Testing of other family members may also be indicated to determine whether they are at risk for diabetes [3].

Last updated: 9/23/2011
There are many forms of monogenic diabetes, and these are due to mutations in different genes. Recent research results show that people with certain forms of monogenic diabetes can be treated with oral diabetes medications instead of insulin injections [1].

People with monogenic forms of diabetes still need to check their blood sugar levels, however, they may not need to check as often as a person with type 1 diabetes [4].

Last updated: 9/23/2011

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Monogenic diabetes. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Diabetes Information Clearinghouse (NDIC) was established in 1978 to increase knowledge and understanding about diabetes among patients, health care professionals, and the general public. Click on the link to view information on this topic. 

In-Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Monogenic diabetes. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My daughter was diagnosed with type 1 diabetes at three years of age. We recently learned that she may have monogenic diabetes. I have never heard if monogenic diabetes. When was monogenic diabetes discovered? Why is genetic testing important in monogenic diabetes? How is genetic for monogenic diabetes done? See answer

  • My child was diagnosed with type 1 diabetes mellitus when he was 6 years old. He was also an intrauterine growth retardation (IUGR) baby. I have read that IUGR can be associated with monogenic diabetes. Due to this possible connection and since there is no other family history of type 1 diabetes, should I have my child tested for monogenic diabetes? See answer


  1. Monogenic Forms of Diabetes Mellitus: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young. National Diabetes Information Clearinghouse (NDIC). March 2007; http://diabetes.niddk.nih.gov/dm/pubs/mody/. Accessed 8/14/2008.
  2. What is Monogenic Diabetes? . The University of Chicago Kovler Diabetes Center. http://www.monogenicdiabetes.org/what-is-monogenic-diabetes. Accessed 9/23/2011.
  3. Who Should Be Tested?. The University of Chicago Kovler Diabetes Center. http://www.monogenicdiabetes.org/who-should-be-tested. Accessed 9/23/2011.
  4. Treatment. The University of Chicago Kovler Diabetes Center. http://www.monogenicdiabetes.org/treatment. Accessed 9/23/2011.