Aicardi-Goutieres syndrome 6
Findings
No curated finding names Aicardi-Goutieres syndrome 6 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 ADAR gene.
Definition from the Mondo Disease Ontology (MONDO:0014007), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- Cerebral calcificationHPOHP:0002514
- 14 of 14 reported patients
- Increased CSF interferon alphaHPOHP:0009709
- 10 of 10 reported patients
- Severe global developmental delayHPOHP:0011344
- 14 of 14 reported patients
- Increased circulating Interferon-alpha concentrationHPOHP:0034513
- 6 of 7 reported patients
- LeukodystrophyHPOHP:0002415
- 11 of 14 reported patients
- IrritabilityHPOHP:0000737
- 7 of 14 reported patients
- Feeding difficultiesHPO
Show the remaining 6
- CSF pleocytosisHPOHP:0012229
- 1 of 11 reported patients
- ChilblainsHPOHP:0009710
- 1 of 14 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 14 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 14 reported patients
- NystagmusHPOHP:0000639
- 1 of 14 reported patients
- SplenomegalyHPOHP:0001744
- 1 of 14 reported patients
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.
- ADARHGNC:225
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: Aicardi-Goutieres syndrome 6
- Also called
- ADAR Aicardi-Goutieres syndromeAicardi-Goutieres syndrome caused by mutation in ADARAicardi-Goutieres syndrome type 6