Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Usher syndrome


Other Names for this Disease

  • Deafness-retinitis pigmentosa syndrome
  • Dystrophia retinae pigmentosa-dysostosis syndrome
  • Graefe-Usher syndrome
  • Hallgren syndrome
  • Usher's 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.

Cause

Newline Maker

What causes Usher syndrome?

Usher syndrome is an inherited condition that may be caused by mutations in any of a number of genes. To date, quite a few disease-causing genes have been identified, and additional areas of certain chromosomes (loci) are also suspected to contain genes that cause Usher syndrome.

Of the genes identified, those which may cause Usher syndrome type 1 include CDH23, MYO7A, PCDH15, USH1C, CIB2, and USH1G; those which may cause type 2 include USH2A, GPR98, PDZD7, and DFNB31; and those which may cause type 3 include CLRN1.[1][2][3][4][5]

Many of the genes related to Usher syndrome give instructions to make proteins needed for normal hearing, balance, and vision. The signs and symptoms of Usher syndrome occur when these genes have mutations that impair how they function. In some cases, the exact role of the genes involved is unknown.[6]
Last updated: 3/4/2014

References
  1. Bonnet C, El-Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. February 2012; 25(1):42-49. Accessed 3/3/2014.
  2. Cassandra L. Kniffin. USHER SYNDROME, TYPE IJ; USH1J. OMIM. October 15, 2012; http://omim.org/entry/614869. Accessed 3/4/2014.
  3. Cassandra L. Kniffin. USHER SYNDROME, TYPE IIC; USH2C. OMIM. February 26, 2013; http://omim.org/entry/605472. Accessed 3/4/2014.
  4. Cassandra L. Kniffin. USHER SYNDROME, TYPE IG; USH1G. OMIM. May 17, 2012; http://omim.org/entry/606943. Accessed 3/4/2014.
  5. Cassandra L. Kniffin. USHER SYNDROME, TYPE IID; USH2D. OMIM. February 26, 2013; http://omim.org/entry/611383. Accessed 3/4/2014.
  6. Usher syndrome. Genetics Home Reference. February, 2007; http://ghr.nlm.nih.gov/condition/usher-syndrome. Accessed 3/3/2014.


Other Names for this Disease
  • Deafness-retinitis pigmentosa syndrome
  • Dystrophia retinae pigmentosa-dysostosis syndrome
  • Graefe-Usher syndrome
  • Hallgren syndrome
  • Usher's 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.