Aicardi-Goutieres syndrome 9
Findings
No curated finding names Aicardi-Goutieres syndrome 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Patients present in infancy with irritability and spasticity. Brain imaging shows diffusely abnormal white matter, cerebral atrophy, and intracranial calcification. Premature death has been associated with renal and/or hepatic failure.
Definition from the Mondo Disease Ontology (MONDO:0030362), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
62 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.
- Global developmental delayHPOHP:0001263
- 16 of 16 reported patients
- DystoniaHPOHP:0001332
- 7 of 16 reported patients
- IrritabilityHPOHP:0000737
- 7 of 16 reported patients
- Cerebral calcificationHPOHP:0002514
- 5 of 16 reported patients
- HypertensionHPOHP:0000822
- 5 of 16 reported patients
- HypothyroidismHPOHP:0000821
- 5 of 16 reported patients
- AnemiaHPOHP:0001903
Show the remaining 50
- Pericardial effusionHPOHP:0001698
- 3 of 16 reported patients
- SeizureHPOHP:0001250
- 3 of 16 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 16 reported patients
- Basal ganglia calcificationHPOHP:0002135
- 2 of 16 reported patients
- ChilblainsHPOHP:0009710
- 2 of 16 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 16 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.
- HGNC:34033HGNC:34033
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Illumina · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Aicardi-Goutieres syndrome 9
- Also called
- AGS9