Details of Disease

General Information of Disease (ID: DIS5GQQ1)

Disease Name Aicardi-Goutieres syndrome 4
Synonyms
AGS4; RNASEH2A-related Aicardi-Goutieres syndrome; Aicardi-Goutieres syndrome 4; RNASEH2A Aicardi-Goutieres syndrome; Aicardi-Goutieres syndrome caused by mutation in RNASEH2A; Aicardi-Goutieres syndrome type 4
Definition Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.
Disease Hierarchy
DIS1NH4X: Aicardi-Goutieres syndrome
DIS1SB3H: RNASEH2A-related type 1 interferonopathy
DIS5GQQ1: Aicardi-Goutieres syndrome 4
Disease Identifiers
MONDO ID
MONDO_0012472
UMLS CUI
C1835912
OMIM ID
610333
MedGen ID
332084

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HOOK2 OTPO4NQV Limited CausalMutation [1]
TREX1 OTQG7K12 Strong Biomarker [2]
RNASEH2A OT8G3G7K Definitive Autosomal recessive [3]
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References

1 Assessment of interferon-related biomarkers in Aicardi-Goutires syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.
2 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.
3 Genetic syndromes mimic congenital infections. J Pediatr. 2005 May;146(5):701-5. doi: 10.1016/j.jpeds.2005.01.033.