Agent Commons Collaborative Research

SAMHD1-related type 1 interferonopathy

rare

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.

Identifiers
MONDO:0700260
Causal genes
SAMHD1
Part of
Hereditary disorder of connective tissueType 1 interferonopathy

Subtypes

All diseases Rare only
Disease Subtypes
Aicardi-Goutieres syndrome 5
Chilblain lupus 2

Rare disease

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