Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Aicardi-Goutieres syndrome


Other Names for this Disease

  • AGS
  • Aicardi Goutieres syndrome
  • Aicardi-Goutières syndrome
  • Autosomal recessive chorioretinopathy-microcephaly
  • Encephalopathy with basal ganglia calcification
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.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Aicardi-Goutieres syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

In Depth Information

  • 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.
    Orphanet
    Orphanet
  • 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.

Insurance Issues

Other Names for this Disease
  • AGS
  • Aicardi Goutieres syndrome
  • Aicardi-Goutières syndrome
  • Autosomal recessive chorioretinopathy-microcephaly
  • Encephalopathy with basal ganglia calcification
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.