Aicardi-Goutieres syndrome 7
Findings
No curated finding names Aicardi-Goutieres syndrome 7 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 IFIH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014367), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Fetal onset
HPO, annotations 2026-09-02
Features
55 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 atrophyHPOHP:0002059
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- IrritabilityHPOHP:0000737
- 3 of 5 reported patients · Neonatal onset
- Abnormality of eye movementHPOHP:0000496
- 2 of 5 reported patients
- Basal ganglia calcificationHPOHP:0002135
- 2 of 5 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 5 reported patients
- DystoniaHPO
Show the remaining 43
- OligohydramniosHPOHP:0001562
- 2 of 5 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 5 reported patients
- ThrombocytopeniaHPOHP:0001873
- 2 of 5 reported patients
- AnemiaHPOHP:0001903
- 1 of 5 reported patients
- ArthritisHPOHP:0001369
- 1 of 5 reported patients
- Atrophic gastritisHPOHP:0002582
- 1 of 5 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.
- IFIH1HGNC:18873
- Definitive · Illumina · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
Other names
3 names
Resolves to: Aicardi-Goutieres syndrome 7
- Also called
- Aicardi-Goutieres syndrome caused by mutation in IFIH1Aicardi-Goutieres syndrome type 7IFIH1 Aicardi-Goutieres syndrome