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GENATLAS PHENOTYPE
last update : 28-03-2013
Symbol AGS6
Location 1q21.3
Name Aicardi-Goutières syndrome 6
Corresponding gene ADAR
Main clinical features
  • inflammatory disorder particularly affecting the brain and skin
  • cerebral atrophy, leukodystrophy, intracranial calcifications, chronic
  • cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections (mimic congenital viral brain infection)
  • early death ( the majority by age 10 years)
  • Genetic determination autosomal recessive
    Function/system disorder eye
    dermatology
    neurology
    Type disease
    Remark(s)
  • disease state is associated with upregulation of interferon-stimulated genes (PMID: 23001123))