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

Maternally inherited diabetes and deafness


Other Names:
Diabetes and deafness, maternally inherited; MIDD; Ballinger Wallace syndrome; Diabetes and deafness, maternally inherited; MIDD; Ballinger Wallace syndrome; Diabetes mellitus type II with deafness; Diabetes-deafness syndrome, maternally transmitted See More
Categories:
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. MIDD is caused by mutations in the MT-TL1, MT-TK, or MT-TE gene. These genes are found in mitochondrial DNA, which is part of cellular structures called mitochondria. Although most DNA is packaged in chromosomes within the cell nucleus, mitochondria also have a small amount of their own DNA (known as mitochondrial DNA or mtDNA). Because the genes involved with MIDD are found in mitochondrial DNA, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children.[1]
Last updated: 2/20/2014

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal chorioretinal morphology 0000532
Constipation 0002019
Macular dystrophy 0007754
Malabsorption
Intestinal malabsorption
0002024
Sensorineural hearing impairment 0000407
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] 		0005978
30%-79% of people have these symptoms
Abnormal circulating lipid concentration 0003119
Aplasia/Hypoplasia of the cerebellum
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] 		0007360
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Glomerulopathy 0100820
Hypertension 0000822
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Muscle weakness
Muscular weakness
0001324
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
5%-29% of people have these symptoms
Ataxia 0001251
Cardiomyopathy
Disease of the heart muscle
0001638
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Ptosis
Drooping upper eyelid
0000508
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Retinopathy
Noninflammatory retina disease
0000488
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
Percent of people who have these symptoms is not available through HPO
Dysarthria
Difficulty articulating speech
0001260
Hyperglycemia
High blood sugar
0003074
Mitochondrial inheritance 0001427
Pigmentary retinopathy 0000580
Retinal degeneration
Retina degeneration
0000546
Seizure 0001250
Unsteady gait
Unsteady walk
0002317
Vertigo
Dizzy spell
0002321
Vestibular dysfunction 0001751
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Last updated: 7/1/2020

In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.[1]
Last updated: 2/20/2014
MIDD is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mitochondrial DNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, only females pass mitochondrial conditions to their children. Mitochondrial disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass mitochondrial traits to their children.[1]

Most of the body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA. These cells can have a mix of mitochondria containing mutated and unmutated DNA (heteroplasmy). The severity of MIDD is thought to be associated with the percentage of mitochondria with the mitochondrial DNA mutation.[1]

Last updated: 2/20/2014

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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

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

  • Genetics Home Reference (GHR) contains information on Maternally inherited diabetes and deafness. This website is maintained by the National Library of Medicine.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Maternally inherited diabetes and deafness. 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.

  1. Maternally inherited diabetes and deafness. Genetics Home Reference (GHR). October 2012; http://ghr.nlm.nih.gov/condition/maternally-inherited-diabetes-and-deafness. Accessed 2/20/2014.