Aicardi-Goutieres syndrome type 5
Other Names for this Disease
- SAMHD1-related Aicardi-Goutieres 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.
 It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. 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. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin.
Last updated: 10/8/2013
- Aicardi-Goutieres syndrome. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome. Accessed 7/13/2012.
- Aicardi J, Crow YJ, Stephenson JBP. Aicardi-Goutières Syndrome. GeneReviews. 2012; http://www.ncbi.nlm.nih.gov/books/NBK1475/. Accessed 7/13/2012.
- Ada Hamosh. AICARDI-GOUTIERES SYNDROME 1. Online Mendelian Inheritance in Man (OMIM). 01/09/2013; http://omim.org/entry/225750. Accessed 10/8/2013.
- Aicardi-Goutieres Syndrome. United Leukodystrophy Foundation. http://ulf.org/aicardi-goutieres-syndrome. Accessed 7/13/2012.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Aicardi-Goutieres syndrome type 5. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on Aicardi-Goutieres syndrome type 5. This website is maintained by the National Library of Medicine.
- The United Leukodystrophy Foundation has developed an information page on Aicardi-Goutieres syndrome type 5. Click on the link above to view this information page.
- 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 Aicardi-Goutieres syndrome type 5. Click on the link to view a sample search on this topic.