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Disease Profile

Maturity-onset diabetes of the young

Prevalence
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

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Childhood

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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

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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

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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.

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

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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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Not applicable

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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 mutations in the HNF4A geneMODY2, caused by mutations in GCK gene; MODY3 caused by mutations in the HNFA1 (the most common type); MODY4 caused by mutations in the PDX1 gene; MODY5 caused by mutations in the HNF1B gene; MODY6 caused by mutations in the NEUROD1 gene; MODY7 caused by mutations in the KLF11 gene; MODY8 caused by mutations in the CEL gene; MODY9 caused by mutations in the PAX4 gene; MODY10 caused by mutations in the INS gene; MODY11 caused by mutations in the BLK gene; MODY12 caused by mutations in the ABCC8 gene; MODY13  caused by heterozygous mutation in the KCNJ11 gene; and MODY14 caused by mutations in the APPL1 gene. It is inherited in an autosomal dominant pattern. Treatment depends on the subtype and may include sulfonylureas, insulin or diet and exercise.[1][2]

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 Cpeptide level
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 hypoglycemia
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 diabetes mellitus
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

    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

        • 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

          1. 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.
          2. Maturity-onset diabetes of the young. OMIM. 2016; https://www.omim.org/entry/606391.