National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Arts syndrome


Other Names:
ARTS; X-linked fatal ataxia with deafness and loss of vision; Lethal ataxia-deafness-optic atrophy ; ARTS; X-linked fatal ataxia with deafness and loss of vision; Lethal ataxia-deafness-optic atrophy ; Lethal ataxia with deafness and optic atrophy See More
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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 PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.[1]
Last updated: 4/8/2014
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 intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).[1]  

Boys with Arts syndrome also have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.[1] 

Females can also be affected by Arts syndrome, but they typically have much milder symptoms. In some cases, hearing loss that begins in adulthood may be the only symptom.[1] 
Last updated: 4/8/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 31 |
Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Areflexia
Absent tendon reflexes
0001284
Ataxia 0001251
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Decreased nerve conduction velocity 0000762
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Muscle mounding 0003719
Muscular hypotonia
Low or weak muscle tone
0001252
Optic atrophy 0000648
Peripheral neuropathy 0009830
Sensorineural hearing impairment 0000407
Tetraplegia
Paralysis of all four limbs
0002445
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
30%-79% of people have these symptoms
Progressive muscle weakness 0003323
Respiratory insufficiency
Respiratory impairment
0002093
5%-29% of people have these symptoms
Hyperreflexia
Increased reflexes
0001347
Pancreatic fibrosis 0100732
Percent of people who have these symptoms is not available through HPO
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] 		0001344
Drooling
Dribbling
0002307
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Immunodeficiency
Decreased immune function
0002721
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] 		0002719
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Seizure 0001250
Spinal cord posterior columns myelin loss 0008311
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020
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 of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.[1]

The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is likely unstable, compromising its ability to perform its normal function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome.[1] 
Last updated: 4/8/2014
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

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.

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