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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mitochondrial neurogastrointestinal encephalopathy syndrome


Other Names for this Disease
  • MNGIE
  • Myoneurogastrointestinal encephalopathy syndrome
  • MNGIE syndrome
  • Oculogastrointestinal muscular dystrophy
  • OGIMD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that particularly affects the digestive system and nervous system. Signs and symptoms of this condition most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. Affected individuals also experience peripheral neuropathy, droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE; however it does not usually cause symptoms in people with this disorder. Mutations in the TYMP gene cause MNGIE, and this condition is inherited in an autosomal recessive pattern.[1]
Last updated: 9/24/2014

References

  1. Mitochondrial neurogastrointestinal encephalopathy disease. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition=mitochondrialneurogastrointestinalencephalopathydisease. Accessed 9/24/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Mitochondrial neurogastrointestinal encephalopathy syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Mitochondrial neurogastrointestinal encephalopathy syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • MNGIE
  • Myoneurogastrointestinal encephalopathy syndrome
  • MNGIE syndrome
  • Oculogastrointestinal muscular dystrophy
  • OGIMD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.