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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Arts syndrome


Other Names for this Disease

  • ARTS
  • Lethal ataxia with deafness and optic atrophy
  • Lethal ataxia-deafness-optic atrophy
  • X-linked fatal ataxia with deafness and loss of vision
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Inheritance

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How is Arts syndrome inherited?

Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder. Females with one copy of the mutated gene are typically much less severely affected.by Arts syndrome than males. In many cases, they do not experience any symptoms.[1] 

In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene.[1]
Last updated: 4/8/2014

References
  1. Arts syndrome. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/arts-syndrome. Accessed 4/8/2014.


Other Names for this Disease
  • ARTS
  • Lethal ataxia with deafness and optic atrophy
  • Lethal ataxia-deafness-optic atrophy
  • X-linked fatal ataxia with deafness and loss of vision
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.