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Diseases

Genetic and Rare Diseases Information Center (GARD)

Usher syndrome, type 1C


Other Names for this Disease
  • USH1C
  • Usher syndrome, Acadian variety
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Overview

Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III.  The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.[1]
Last updated: 3/3/2014

References

  1. Usher syndrome. Genetics Home Reference (GHR). February 2007; http://ghr.nlm.nih.gov/condition/usher-syndrome. Accessed 9/20/2011.
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Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Usher syndrome, type 1C. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • USH1C
  • Usher syndrome, Acadian variety
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.