Other Names for this Disease
- X-linked fatal ataxia with deafness and loss of vision
- Lethal ataxia-deafness-optic atrophy
- Lethal ataxia with deafness and optic atrophy
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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.
- Genetics Home Reference (GHR) contains information on Arts syndrome. This website is maintained by the National Library of Medicine.
- 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.
- 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.