Usher syndrome | Disease | Overview | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Usher syndrome | Disease | Overview | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Usher Syndrome

01/14/2016 04:36 PM EST

Source: Office of Rare Diseases - 
Related MedlinePlus Page: Usher Syndrome

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 cellhave 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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On this page

• Basic Information
• In Depth Information

Basic Information

• Genetics Home Reference (GHR) contains information on Usher syndrome. This website is maintained by the National Library of Medicine.
• MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic. 
• The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic. 
• The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
• The National Institutes of Health (NIH) has developed an information page on Usher syndrome. To view this information, click on the link above.

In Depth Information

• The 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 Usher syndrome. Click on the link to view a sample search on this topic.