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Disease Profile

Monogenic diabetes

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable



Metabolic disorders


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].


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].


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].


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

      Learn more

      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.


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

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