GTR Home > Conditions/Phenotypes > Arts syndrome

Disease characteristics

Excerpted from the GeneReview: Arts Syndrome
Arts syndrome, which is part of the spectrum of PRPS1-related disorders, is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection, all of which (with the exception of optic atrophy) present before age two years. Signs of peripheral neuropathy develop during early childhood. Twelve of 15 boys from the two Dutch families reported with Arts syndrome died before age six years of complications of infection. Carrier females can show late-onset (age >20 years) hearing impairment and other findings.

Available tests

14 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: RP11-540N4.1, ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI, PRPS1
    Summary: phosphoribosyl pyrophosphate synthetase 1

Clinical features

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  • Muscle weakness
  • Hyperreflexia
  • Areflexia
  • Recurrent infections
  • Progressive muscle weakness
  • Respiratory insufficiency
  • Neonatal hypotonia
  • Intellectual disability
  • Dysphagia
  • Cognitive impairment
  • Incoordination
  • Seizure
  • Nystagmus
  • Hearing impairment
  • Sensorineural hearing impairment
  • Visual impairment
  • Visual loss
  • Optic atrophy
  • Decreased nerve conduction velocity
  • Ataxia
  • Muscular hypotonia
  • Global developmental delay
  • Reduced tendon reflexes
  • Growth delay
  • Drooling
  • Tetraplegia
  • Immunodeficiency
  • Recurrent upper respiratory tract infections
  • Hemiplegia/hemiparesis
  • Spinal cord posterior columns myelin loss
  • Peripheral neuropathy
  • Abnormality of immune system physiology
  • Pancreatic fibrosis
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