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Disease Profile
Maturity-onset diabetes of the young
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.
1-5 / 10 000
Age of onset
Childhood
ICD-10
E13
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.
Not applicable
Other names (AKA)
MODY; Mason type diabetes
Categories
Congenital and Genetic Diseases; Endocrine Diseases
Summary
Maturity-onset diabetes of the young (MODY) is a form of diabetes that is characterized by an early onset diabetes. MODY represents about 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus. It is due to a primary defect in pancreatic β-cell function.[1] There are several MODY subtypes with distinct genetic causes: MODY1, caused by
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Abnormal C |
0030794 | |
| Abnormal oral glucose tolerance | 0004924 | |
| Elevated hemoglobin A1c | 0040217 | |
| Glycosuria |
Glucose in urine
|
0003076 |
| Hyperglycemia |
High blood sugar
|
0003074 |
| Hypoinsulinemia | 0040216 | |
| 5%-29% of people have these symptoms | ||
| Hyperinsulinemic |
0000825 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ] |
0001520 |
| Neonatal hypoglycemia |
Low blood sugar in newborn
|
0001998 |
| Nephropathy | 0000112 | |
| Overweight | 0025502 | |
| Retinopathy |
Noninflammatory retina disease
|
0000488 |
| Transient neonatal |
0008255 | |
| 1%-4% of people have these symptoms | ||
| Exocrine pancreatic insufficiency |
Inability to properly digest food due to lack of pancreatic digestive enzymes
|
0001738 |
| Hepatocellular adenoma | 0012028 | |
| Obesity |
Having too much body fat
|
0001513 |
| Pancreatic hypoplasia |
Underdeveloped pancreas
|
0002594 |
| Renal cyst |
Kidney cyst
|
0000107 |
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
-
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
-
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
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Orphanet
Orphanet - PubMed is a searchable database of medical literature and lists journal articles that discuss Maturity-onset diabetes of the young. Click on the link to view a sample search on this topic.
References
- Kim S-H. Maturity-Onset Diabetes of the Young: What Do Clinicians Need to Know?. /Diabetes Metab J. December, 2015; 39(6):468–477. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4696982.
- Maturity-onset diabetes of the young. OMIM. 2016; https://www.omim.org/entry/606391.