Arts Syndrome

Common Name(s)

Arts Syndrome

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arts Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Arts Syndrome" returned 1 free, full-text research articles on human participants. First 3 results:

Arts syndrome is caused by loss-of-function mutations in PRPS1.
 

Author(s): Arjan P M de Brouwer, Kelly L Williams, John A Duley, André B P van Kuilenburg, Sander B Nabuurs, Michael Egmont-Petersen, Dorien Lugtenberg, Lida Zoetekouw, Martijn J G Banning, Melissa Roeffen, Ben C J Hamel, Linda Weaving, Robert A Ouvrier, Jennifer A Donald, Ron A Wevers, John Christodoulou, Hans van Bokhoven

Journal: Am. J. Hum. Genet.. 2007 Sep;81(3):507-18.

 

Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. ...

Last Updated: 16 Aug 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Arts Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Chinese Network of Pediatric Antiretroviral Therapy
 

Status: Recruiting

Condition Summary: Acquired Immunodeficiency Syndrome

 

Last Updated: 20 Nov 2013

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ART and Inflammatory and Coagulation Biomarkers
 

Status: Recruiting

Condition Summary: HIV (Human Immunodeficiency Virus); AIDS (Acquired Immune Deficiency Syndrome); Tuberculosis; Non-communicable Diseases (NCD)

 

Last Updated: 29 Sep 2014

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Study of People With HIV Infection Who Have High Viral Loads Despite Combination Antiretroviral Therapy
 

Status: Recruiting

Condition Summary: Acquired Immune Deficiency Syndrome Virus; Acquired Immunodeficiency Syndrome Virus; AIDS Virus; Human Immunodeficiency Virus; Human Immunodeficiency Viruses

 

Last Updated: 13 Sep 2014

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