Aicardi-Goutieres syndrome 1
Findings
No curated finding names Aicardi-Goutieres syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009165), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
28 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Basal ganglia calcificationHPOHP:0002135
- 25 of 25 reported patients
- Cerebellar calcificationsHPOHP:0007352
- 1 of 1 reported patient
- Chronic CSF lymphocytosisHPOHP:0009704
- 23 of 23 reported patients
- CNS demyelinationHPOHP:0007305
- 1 of 1 reported patient
- CSF lymphocytic pleiocytosisHPOHP:0200149
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
Show the remaining 16
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- PetechiaeHPOHP:0000967
- 1 of 1 reported patient
- Self-mutilationHPOHP:0000742
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- VasculitisHPOHP:0002633
- 1 of 1 reported patient
Genes
1 gene
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.
- TREX1HGNC:12269
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (1)
Other names
4 names
Resolves to: Aicardi-Goutieres syndrome 1
- Also called
- Aicardi-Goutieres syndrome 1, dominant and recessiveAicardi-Goutieres syndrome caused by mutation in TREX1Aicardi-Goutieres syndrome type 1TREX1 Aicardi-Goutieres syndrome