Arts syndrome

Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete ...1

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Symptoms of Arts syndrome

Symptoms: Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and ...2

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Causes of Arts syndrome

Cause: Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks ...3

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Genetics of Arts syndrome

Genetic Changes: Mutations in the PRPS1 gene cause Arts syndrome . The PRPS1 gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, which are building ...4

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)5 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ arts-syndrome
  2. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 8756/ arts-syndrome
  3. ibid.
  4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ arts-syndrome
  5. ibid.

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