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Other Names for this Disease
- Lethal ataxia with deafness and optic atrophy
- Lethal ataxia-deafness-optic atrophy
- X-linked fatal ataxia with deafness and loss of vision
PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the
Last updated: 4/8/2014
- Arts syndrome. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/arts-syndrome. Accessed 4/8/2014.
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- Genetics Home Reference (GHR) contains information on Arts syndrome. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an 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 Arts syndrome. Click on the link to view a sample search on this topic.