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Other Names for this Disease
- HDR syndrome
- Hypoparathyroidism, sensorineural deafness, and renal dysplasia
- Nephrosis, nerve deafness, and hypoparathyroidism
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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.Barakat syndrome is an inherited condition characterized by
Last updated: 1/4/2012
- 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.
- 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
- The Online Mendelian Inheritance in Man (OMIM) is an 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.