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Genetic and Rare Diseases Information Center (GARD)

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Barakat syndrome


Other Names for this Disease

  • HDR syndrome
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia
  • Nephrosis, nerve deafness, and hypoparathyroidism
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Overview

Barakat syndrome is an inherited condition characterized by hypoparathyroidism, sensorineural hearing loss, and renal (kidney) disease. Most cases have been attributed to a mutation on chromosome 10p which affects the GATA3 gene. Inheritance is likely autosomal dominant. Treatment is symptomatic and supportive.[1]
Last updated: 1/4/2012

References

  1. AJ Barakat. Hypoparathyroidism - deafness - renal disease. Orphanet. September 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2237. Accessed 1/4/2012.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • 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 Barakat syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • HDR syndrome
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia
  • Nephrosis, nerve deafness, and hypoparathyroidism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.