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Genetic and Rare Diseases Information Center (GARD)

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Tietz syndrome


Other Names for this Disease

  • Albinism-deafness of Tietz
  • Hypopigmentation/deafness of Tietz
  • Tietz albinism-deafness syndrome
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

Tietz syndrome is a genetic condition characterized by profound hearing loss from birth, fair skin, and light-colored hair.[1] This condition is caused by mutations in the MITF gene. It is inherited in an autosomal dominant fashion with complete penetrance.[2]  
Last updated: 1/28/2010

References

  1. MITF. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/gene=mitf. Accessed 1/28/2010.
  2. Smith SD, Kelley PM, Kenyon JB, Hoover D. J Med Genet. 2000; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734605/pdf/v037p00446.pdf. Accessed 1/28/2010.
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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 Tietz syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Albinism-deafness of Tietz
  • Hypopigmentation/deafness of Tietz
  • Tietz albinism-deafness syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.