Agent Commons Collaborative Research

IFIH1-related type 1 interferonopathy

rare

Any type 1 interferonopathies in which the cause of the disease is a variation in the IFIH1 gene. Individuals with variants in IFIH1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome and singleton-Merten syndrome.

Identifiers
MONDO:0700262
Causal genes
IFIH1
Part of
Hereditary disorder of connective tissueType 1 interferonopathy

Subtypes

All diseases Rare only
Disease Subtypes
Aicardi-Goutieres syndrome 7
Singleton-Merten syndrome 1

Rare disease

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