Details of Disease | DrugMAP

General Information of Disease (ID: DISOL1R1)

Disease Name	Aicardi-Goutieres syndrome 2
Synonyms	RNASEH2B-related Aicardi-Goutieres syndrome; AGS2; Aicardi-Goutieres syndrome caused by mutation in RNASEH2B; Aicardi-Goutieres syndrome 2; RNASEH2B Aicardi-Goutieres syndrome; Aicardi-Goutieres syndrome type 2
Definition	Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene.
Disease Hierarchy	DIS1NH4X: Aicardi-Goutieres syndrome DISWUR7T: RNASEH2B-related type 1 interferonopathy DISOL1R1: Aicardi-Goutieres syndrome 2
Disease Identifiers	MONDO ID MONDO_0012429 MESH ID C535607 UMLS CUI C3489724 OMIM ID 610181 MedGen ID 483677

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]
IFIH1	OTZA2AHA	Strong	Biomarker	[3]
TREX1	OTQG7K12	Strong	Biomarker	[4]
RNASEH2B	OT8KHYFY	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	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.
4	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.
5	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.