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Diseases

Genetic and Rare Diseases Information Center (GARD)

Barakat syndrome


Other Names for this Disease
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia
  • HDR syndrome
  • 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) 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 Barakat syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia
  • HDR syndrome
  • 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.