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GENATLAS PHENOTYPE
last update : 22-08-2014
Symbol AGS1
Location 3p21.31
HGNC id 332
Name Aicardi-Goutieres syndrome 1
Corresponding gene TREX1
Other symbol(s) AICG
Main clinical features
  • encephalopathy familial infantile with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis, polymicrogyria, spasticity, dystonia, acquired microcephaly, with high level of interferon alpha
  • severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral infection
  • early death ( the majority by age 10 years)
  • frequent chilblain lesions
  • early death ( the majority by age 10 years)
  • Genetic determination autosomal recessive
    Related entries including Cree encephalitis
    Function/system disorder mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function results in the triggering of an abnormal innate immune response
    Remark(s) . RNA interference can be used to inhibit the over-production of cathepsin D that occurs in AGS1 lymphocytes in the presence of interferon alpha, attenuating innate immune activation and neurotoxicity (PMID: 23261460))