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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Pendred syndrome


Other Names for this Disease

  • Deafness with goiter
  • Goiter-deafness syndrome
  • PDS
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

Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called goiter. Other abnormalities of the inner ear are also common in Pendred syndrome. Some affected individuals have problems with balance caused by dysfunction of the part of the inner ear that helps maintain the body's balance and orientation (the vestibular system). Additionally, a structure called the vestibular aqueduct is unusually large in people with Pendred syndrome. Mutations in the SLC26A4 gene cause about half of all familial cases of Pendred syndrome. In some cases, the cause of Pendred syndrome is unknown. Researchers are looking for additional genetic changes that may underlie the condition. Pendred syndrome is inherited in an autosomal recessive pattern.[1]
Last updated: 7/26/2011

References

  1. Pendred syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/pendred-syndrome. Accessed 7/26/2011.
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Basic Information

In Depth Information

  • The 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 Pendred syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Deafness with goiter
  • Goiter-deafness syndrome
  • PDS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.