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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
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Overview

Tietz syndrome is a rare condition that affects the development of melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes).[1] Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair.[2] It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner.[3] The goal of treatment is to improve hearing; cochlear implantation may be considered.[4]
Last updated: 11/19/2014

References

  1. MITF. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/gene=mitf. Accessed 1/28/2010.
  2. Tietz Syndrome. OMIM. May 2009; http://omim.org/entry/103500. Accessed 11/19/2014.
  3. Smith SD, Kelley PM, Kenyon JB, Hoover D. Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF. J Med Genet. 2000; 37:446-448. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734605/pdf/v037p00446.pdf.
  4. Stephanie A Moody Antonio, MD. Genetic Sensorineural Hearing Loss. Medscape. August 25, 2014; http://emedicine.medscape.com/article/855875-overview. Accessed 11/19/2014.
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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 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.