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Aicardi-Goutieres syndrome


Other Names for this Disease

  • AGS
  • Aicardi Goutieres syndrome
  • Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
  • Pseudo-torch syndrome
  • Pseudotoxoplasmosis syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin.[1] It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability.[2] Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness.[1] Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes.[3] Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.[4]
Last updated: 10/8/2013

References

  1. Aicardi-Goutieres syndrome. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome. Accessed 7/13/2012.
  2. Aicardi J, Crow YJ, Stephenson JBP. Aicardi-Goutières Syndrome. GeneReviews. 2012; http://www.ncbi.nlm.nih.gov/books/NBK1475/. Accessed 7/13/2012.
  3. Ada Hamosh. AICARDI-GOUTIERES SYNDROME 1. Online Mendelian Inheritance in Man (OMIM). 01/09/2013; http://omim.org/entry/225750. Accessed 10/8/2013.
  4. Aicardi-Goutieres Syndrome. United Leukodystrophy Foundation. http://ulf.org/aicardi-goutieres-syndrome. Accessed 7/13/2012.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Aicardi-Goutieres syndrome. Click on the link to view a sample search on this topic.

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Other Names for this Disease
  • AGS
  • Aicardi Goutieres syndrome
  • Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
  • Pseudo-torch syndrome
  • Pseudotoxoplasmosis syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.