Other Names for this Disease
- Albinism-deafness of Tietz
- Hypopigmentation/deafness of Tietz
- Tietz albinism-deafness syndrome
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melanocytes, the cells in our body that produce and contain melanin (the pigment that gives color to skin, hair, and eyes). Signs and symptoms of this condition are present from birth and usually include sensorineural hearing loss, fair skin, and light-colored hair. It is caused by changes (mutations) in the MITF gene and inherited in an autosomal dominant manner. The goal of treatment is to improve hearing; cochlear implantation may be considered.Tietz syndrome is a rare condition that affects the development of
Last updated: 11/19/2014
- MITF. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/gene=mitf. Accessed 1/28/2010.
- Tietz Syndrome. OMIM. May 2009; http://omim.org/entry/103500. Accessed 11/19/2014.
- 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.
- Stephanie A Moody Antonio, MD. Genetic Sensorineural Hearing Loss. Medscape. August 25, 2014; http://emedicine.medscape.com/article/855875-overview. Accessed 11/19/2014.
- Genetics Home Reference (GHR) contains information on Tietz syndrome. This website is maintained by the National Library of Medicine.
- 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.