ADAR-related type 1 interferonopathy
MONDO:0700261Mondo
Findings
No curated finding names ADAR-related type 1 interferonopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any type 1 interferonopathies in which the cause of the disease is a variation in the ADAR gene. Individuals with variants in ADAR can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and dyschromatosis symmetrica hereditaria.
Definition from the Mondo Disease Ontology (MONDO:0700261), read 2026-09-29. CC BY 4.0.
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 · ClinGen · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
- Narrower terms (2)