Aicardi-Goutieres syndrome
Findings
No curated finding names Aicardi-Goutieres syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterized by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.
Definition from the Mondo Disease Ontology (MONDO:0018866), read 2026-09-29. CC BY 4.0.
Features
72 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArrhinencephalyHPOHP:0002139
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Multifocal cerebral white matter abnormalitiesHPOHP:0007052
- Very frequent (80% to 99% of cases)
- Porencephalic cystHPOHP:0002132
- Very frequent (80% to 99% of cases)
- Profound intellectual disabilityHPOHP:0002187
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Frequent (30% to 79% of cases)
- AutoimmunityHPOHP:0002960
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
- Brain atrophyHPOHP:0012444
- Frequent (30% to 79% of cases)
- Cerebral calcificationHPOHP:0002514
- Frequent (30% to 79% of cases)
Show the remaining 60
- ChilblainsHPOHP:0009710
- Frequent (30% to 79% of cases)
- Chronic CSF lymphocytosisHPOHP:0009704
- Frequent (30% to 79% of cases)
- Convex nasal ridgeHPOHP:0000444
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ADARHGNC:225
- Supportive · Orphanet · Autosomal dominant · 2021
- IFIH1HGNC:18873
- Supportive · Orphanet · Autosomal dominant · 2021
- RNASEH2AHGNC:18518
- Supportive · Orphanet · Autosomal dominant · 2021
- RNASEH2BHGNC:25671
- Supportive · Orphanet · Autosomal dominant · 2021
- RNASEH2CHGNC:24116
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (10)
- 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
- Aicardi-Goutieres syndrome 8
- Aicardi-Goutieres syndrome 9
- basal ganglia calcification, idiopathic, childhood-onset
Other names
5 names
Resolves to: Aicardi-Goutieres syndrome
- Also called
- Aicardi Goutieres syndromeAicardi-Goutières SyndromeCree encephalitisencephalopathy with basal ganglia calcificationencephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid