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Diseases

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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Tests & Diagnosis

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How is Tietz syndrome diagnosed?

A diagnosis of Tietz syndrome is suspected in people with severe, bilateral (both ears) sensorineural hearing loss; fair skin; and light-colored hair. Identification of a change (mutation) in the MITF gene also supports this diagnosis.[1][2]

Diagnosing Tietz syndrome can be complicated since there are several different genetic conditions that can cause deafness and hypopigmentation, some of which are also caused by mutations in the MITF gene.[1] It is, therefore, important for people with suspected Tietz syndrome to be evaluated by a healthcare provider who specializes in genetics.
Last updated: 11/19/2014

References
  1. 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.
  2. Tietz Syndrome. OMIM. May 2009; http://omim.org/entry/103500. Accessed 11/19/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.