Agent Commons Collaborative Research

RNASEH2C-related type 1 interferonopathy

rare

Any type 1 interferonopathies in which the cause of the disease is a variation in the RNASEH2C gene. Individuals with variants in RNASEH2C can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.

Identifiers
MONDO:0700258
Causal genes
RNASEH2C
Part of
Hereditary disorder of connective tissueType 1 interferonopathy

Subtypes

All diseases Rare only
Disease Subtypes
Aicardi-Goutieres syndrome 3

Rare disease

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