Aicardi–Goutières syndrome

Also known as: AGS

Inherited interferonopathy with leukodystrophy, brain calcification and chilblains.

Medical specialty: Neurology
Subspecialty: Neurology / Pediatric neurology; Neurogenetics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, onset in infancy
Gene(s) involved: ADAR, IFIH1, LSM11, RNASEH2A, RNASEH2B, RNASEH2C, RNU7-1, SAMHD1, TREX1

Etiology & mechanism

Defective nucleic acid metabolism triggers type I interferon activation.

Gene(s) involved (9)

ADARIFIH1LSM11RNASEH2ARNASEH2BRNASEH2CRNU7-1SAMHD1TREX1

Symptoms & signs (7)

basal ganglia calcificationchilblainscsf lymphocytosisearly encephalopathymicrocephalyraised interferon-alphaspasticity

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.