Resources
Sub-types
Symptoms
Other Names
Associated Disorders
Causes
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Resource Links

Information from the sites below. Look at these sites for more information.

Rare Diseases

Malacards and Related Diseases

Malacards.org

Orphanet

Genetics Home Reference

NIH

Support Group (Jump to Organizations)

Video Resources

Sub-types

  • aicardi-goutieres syndrome 1
  • aicardi-goutieres syndrome 2
  • aicardi-goutieres syndrome 3
  • aicardi-goutieres syndrome 4
  • aicardi-goutieres syndrome 5
  • aicardi-goutieres syndrome 6
  • aicardi-goutieres syndrome 7

Symptoms

  • Intellectual disability
  • Physical disability
  • Epilepsy
  • Painful, itchy skin lesion (chilblains)
  • Vision problems
  • Joint and muscle stiffness (spasticity)
  • Involuntary muscle twisting and contractions (dystonia)
  •  Weak muscle tone (hypotonia) in the torso.

Other Names for this Disorder

  • AGS
  •  Aicardi Goutieres syndrome
  • Encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis
  • Pseudotoxoplasmosis syndrome
  •  Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
  •   Cree Encephalitis
  • Encephalopathy with basal ganglia calcification

Associated Disorders

  • singleton-merten syndrome
  • familial chilblain lupus
  • early onset absence epilepsy
  • chilblain lupus 1
  • Intellectual disability
  • Physical disability
  • Epilepsy

Related Genes

  • SHISA5, TREX1
  • KAT5, RNASEH2C
  • RNASEH2B, RNASEH2B-AS1
  • SAMHD1, TLDC2
  • GCA IFIH1
  • SAMHD1, TMEM173, TREX1
  • ADAR CHRNB2
  • CGAS EXO1 IFIH1 SAMHD1 TMEM173 TREX1

Aicardi–Goutières Syndrome Overview

Aicardi–Goutières Syndrome is caused by genetic errors in multiple genes.  These errors cause a variety symptoms including: intellectual and physical difficulties, epilepsy, of vision issues problems with joints and muscles, itchy skin.