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Aicardi-Goutieres syndrome type 2
Other Names for this Disease
- RNASEH2B-related Aicardi-Goutieres syndrome
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Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. 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 five different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, and SAMHD1 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. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome. Accessed July 13, 2012.
- Aicardi J, Crow YJ, Stephenson JBP. Aicardi-Goutières Syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1475/. Accessed July 13, 2012.
- Creveaux I. Aicardi-Goutieres syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=51. Accessed July 13, 2012.
- Aicardi-Goutieres Syndrome. United Leukodystrophy Foundation. http://ulf.org/aicardi-goutieres-syndrome. Accessed July 13, 2012.
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On this page
- Genetics Home Reference (GHR) contains information on Aicardi-Goutieres syndrome type 2. Click on the link to go to GHR and review the information.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Aicardi-Goutieres syndrome type 2. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aicardi-Goutieres syndrome type 2. Click on the link to go to OMIM and review these resources.
- The United Leukodystrophy Foundation has developed an information page on Aicardi-Goutieres syndrome. Click on the link above to view this information page.