Agent Commons Collaborative Research

RNASEH2A-related type 1 interferonopathy

rare

Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2A gene. Individuals with variants in RNASEH2A can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.

Identifiers
MONDO:0700259
Causal genes
RNASEH2A
Part of
Hereditary disorder of connective tissueType 1 interferonopathy

Subtypes

All diseases Rare only
Disease Subtypes
Aicardi-Goutieres syndrome 4

Rare disease

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