Details of Disease

General Information of Disease (ID: DISPAXC2)

Disease Name Aicardi-Goutieres syndrome 1
Synonyms
Ags; encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis; Aicardi-Goutieres syndrome 1, autosomal dominant; AGS1; Cree encephalitis; Pseudotoxoplasmosis syndrome; Aicardi-Goutieres syndrome 1; TREX1 Aicardi-Goutieres syndrome; Aicardi-Goutieres syndrome caused by mutation in TREX1; Aicardi-Goutieres syndrome type 1; Aicardi-Goutieres syndrome 1, dominant and recessive
Definition Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene.
Disease Hierarchy
DISCVVSA: TREX1-related type 1 interferonopathy
DIS1NH4X: Aicardi-Goutieres syndrome
DISPAXC2: Aicardi-Goutieres syndrome 1
Disease Identifiers
MONDO ID
MONDO_0009165
UMLS CUI
C0796126
OMIM ID
225750
MedGen ID
162912

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SAMHD1 OTBCIBC7 Limited Biomarker [1]
ADAR OTQNOHR8 Strong Biomarker [2]
ATRIP OT78O9LF Strong CausalMutation [3]
IFIH1 OTZA2AHA Strong Biomarker [4]
TREX1 OTQG7K12 Definitive Autosomal recessive [5]
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References

1 Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction.J Biol Chem. 2013 Mar 22;288(12):8101-8110. doi: 10.1074/jbc.M112.431148. Epub 2013 Jan 30.
2 Mutations in ADAR1 cause Aicardi-Goutires syndrome associated with a type I interferon signature. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.
3 Inflammatory myopathy in a patient with Aicardi-Goutires syndrome.Eur J Med Genet. 2017 Mar;60(3):154-158. doi: 10.1016/j.ejmg.2016.12.004. Epub 2017 Jan 9.
4 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.
5 Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutires syndrome at the AGS1 locus. Nat Genet. 2006 Aug;38(8):917-20. doi: 10.1038/ng1845. Epub 2006 Jul 16.