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Other Names for this Disease
- Albinism-deafness of Tietz
- Hypopigmentation/deafness of Tietz
- Tietz albinism-deafness syndrome
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 This condition is caused by mutations in the MITF gene. It is inherited in an autosomal dominant fashion with complete penetrance.Tietz syndrome is a genetic condition characterized by profound hearing loss from birth, fair skin, and light-colored hair.
Last updated: 1/28/2010
- MITF. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/gene=mitf. Accessed 1/28/2010.
- 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 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 Tietz syndrome. Click on the link to view a sample search on this topic.