Maternally inherited diabetes and deafness

Title

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:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Eye diseases; Metabolic disorders See More

Summary Summary

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

Symptoms 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.

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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
Abnormality of lipid metabolism		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		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
Seizures	Seizure	0001250
Unsteady gait	Unsteady walk	0002317
Vertigo	Dizzy spell	0002321
Vestibular dysfunction		0001751

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

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

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

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

Diagnosis Diagnosis

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.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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.

Patient Registry

The North American Mitochondrial Disease Consortium (NAMDC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The North American Mitochondrial Disease Consortium (NAMDC) has a registry for patients who wish to be contacted about clinical research opportunities.

For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

Learn More 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

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.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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