SAMHD1-related type 1 interferonopathy
MONDO:0700260Mondo
Findings
No curated finding names SAMHD1-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 SAMHD1 gene. Individuals with variants in SAMHD1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and chilblain lupus.
Definition from the Mondo Disease Ontology (MONDO:0700260), 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.
- SAMHD1HGNC:15925
- Definitive · ClinGen · Autosomal recessive · 2024
Where it sits
- Narrower terms (2)