Details of Disease

General Information of Disease (ID: DIS16XSH)

Disease Name Aicardi-Goutieres syndrome 3
Synonyms
RNASEH2C -related Aicardi-Goutieres syndrome; AGS3; RNASEH2C Aicardi-Goutieres syndrome; Aicardi-Goutieres syndrome type 3; Aicardi-Goutieres syndrome 3; Aicardi-Goutieres syndrome caused by mutation in RNASEH2C
Definition Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.
Disease Hierarchy
DISK2XCO: RNASEH2C-related type 1 interferonopathy
DIS1NH4X: Aicardi-Goutieres syndrome
DIS16XSH: Aicardi-Goutieres syndrome 3
Disease Identifiers
MONDO ID
MONDO_0012471
UMLS CUI
C1835916
OMIM ID
610329
MedGen ID
324389

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TREX1 OTQG7K12 Strong Biomarker [1]
RNASEH2C OTJL9ZRN Definitive Autosomal recessive [2]
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References

1 The AIM2-like Receptors Are Dispensable for the Interferon Response to Intracellular DNA.Immunity. 2016 Aug 16;45(2):255-66. doi: 10.1016/j.immuni.2016.06.015. Epub 2016 Aug 2.
2 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutires syndrome and mimic congenital viral brain infection. Nat Genet. 2006 Aug;38(8):910-6. doi: 10.1038/ng1842. Epub 2006 Jul 16.