Details of Disease

General Information of Disease (ID: DIS89BRW)

Disease Name Aicardi-Goutieres syndrome 7
Synonyms AGS7; IFIH1 Aicardi-Goutieres syndrome; Aicardi-Goutieres syndrome caused by mutation in IFIH1; Aicardi-Goutieres syndrome type 7; Aicardi-Goutieres syndrome 7
Definition Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.
Disease Hierarchy
DIS1NH4X: Aicardi-Goutieres syndrome
DIS1WY4W: IFIH1-related type 1 interferonopathy
DIS89BRW: Aicardi-Goutieres syndrome 7
Disease Identifiers
MONDO ID
MONDO_0014367
UMLS CUI
C3888244
OMIM ID
615846
MedGen ID
854829

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]
IFIH1 OTZA2AHA Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------

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 Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30.