Details of Disease

General Information of Disease (ID: DIS9TLMY)

Disease Name Aicardi-Goutieres syndrome 6
Synonyms
AGS6; Aicardi-Goutieres syndrome caused by mutation in Adar; Adar Aicardi-Goutieres syndrome; Aicardi-Goutieres syndrome caused by mutation in ADAR; ADAR Aicardi-Goutieres syndrome; Aicardi-Goutieres syndrome type 6; Aicardi-Goutieres syndrome 6
Definition Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.
Disease Hierarchy
DIS1NH4X: Aicardi-Goutieres syndrome
DISDB01I: ADAR-related type 1 interferonopathy
DIS9TLMY: Aicardi-Goutieres syndrome 6
Disease Identifiers
MONDO ID
MONDO_0014007
UMLS CUI
C3539013
OMIM ID
615010
MedGen ID
761287

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]
ADAR OTQNOHR8 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 A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. J Med Genet. 2014 Feb;51(2):76-82. doi: 10.1136/jmedgenet-2013-102038. Epub 2013 Nov 21.