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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.
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Age of onset
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ICD-10
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Inheritance
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.
X-linked
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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Categories
Metabolic disorders
Summary
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
Some rare forms of diabetes result from
Diagnosis
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].
Treatment
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].
Organizations
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
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JDRF Monogenic Diabetes Section
Toll-free: 866-780-0096
Website: https://www.monogenicdiabetes.org/index.html -
Juvenile Diabetes Research Foundation International (JDRF)
26 Broadway, 14th floor
New York, NY 10004
Toll-free: 1–800–533–CURE (2873)
Fax: +1-212–785–9595
E-mail: [email protected]
Website: https://www.jdrf.org/
Organizations Providing General Support
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American Diabetes Association
2451 Crystal Drive
Suite 900
Arlington, VA 22202
Toll-free: 1–800–DIABETES (342–2383)
Fax: 703–549–6995
E-mail: [email protected]
Website: https://www.diabetes.org
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.
References
- 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.
- What is Monogenic Diabetes? . The University of Chicago Kovler Diabetes Center. https://www.monogenicdiabetes.org/what-is-monogenic-diabetes. Accessed 9/23/2011.
- Who Should Be Tested?. The University of Chicago Kovler Diabetes Center. https://www.monogenicdiabetes.org/who-should-be-tested. Accessed 9/23/2011.
- Treatment. The University of Chicago Kovler Diabetes Center. https://www.monogenicdiabetes.org/treatment. Accessed 9/23/2011.
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