Tietz syndrome

Common Name(s)

Tietz syndrome

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). 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tietz syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Tietz syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.
 

Author(s): Christina Ni, Deming Zhang, Lisa A Beyer, Karin E Halsey, Hideto Fukui, Yehoash Raphael, David F Dolan, Thomas J Hornyak

Journal: Pigment Cell Melanoma Res. 2013 Jan;26(1):78-87.

 

The human deafness-pigmentation syndromes, Waardenburg syndrome (WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF. To illuminate differences between cutaneous ...

Last Updated: 31 Dec 1969

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Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
 

Author(s): S D Smith, P M Kelley, J B Kenyon, D Hoover

Journal: J. Med. Genet.. 2000 Jun;37(6):446-8.

 

Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Tietz syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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