Details of Disease

General Information of Disease (ID: DISU0BME)

Disease Name Aicardi-Goutieres syndrome 5
Synonyms
SAMHD1-related Aicardi-Goutieres syndrome; AGS5; Aicardi-Goutieres syndrome caused by mutation in SAMHD1; Aicardi-Goutieres syndrome type 5; SAMHD1 Aicardi-Goutieres syndrome; Aicardi-Goutieres syndrome 5
Definition Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene.
Disease Hierarchy
DIS1NH4X: Aicardi-Goutieres syndrome
DISXXEWT: SAMHD1-related type 1 interferonopathy
DISU0BME: Aicardi-Goutieres syndrome 5
Disease Identifiers
MONDO ID
MONDO_0013059
MESH ID
C535608
UMLS CUI
C2749659
OMIM ID
612952
MedGen ID
413116

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]
SAMHD1 OTBCIBC7 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 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.