AGS2
MCID: ACR090
MIFTS: 32

Aicardi-Goutieres Syndrome 2 (AGS2)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aicardi-Goutieres Syndrome 2

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 2:

Name: Aicardi-Goutieres Syndrome 2 57 72 13 70
Aicardi Goutieres Syndrome 2 29 6
Pseudo-Torch Syndrome 72 70
Ags2 57 72
Aicardi-Goutieres Syndrome, Type 2 39
Aicardi-Goutieres Syndrome 1 70
Cree Encephalitis 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in the first 2 years of life
progressive or slowly progressive


HPO:

31
aicardi-goutieres syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM® 57 610181
OMIM Phenotypic Series 57 PS225750
UMLS 70 C0796126 C3489724 C3489725

Summaries for Aicardi-Goutieres Syndrome 2

UniProtKB/Swiss-Prot : 72 Aicardi-Goutieres syndrome 2: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

MalaCards based summary : Aicardi-Goutieres Syndrome 2, also known as aicardi goutieres syndrome 2, is related to aicardi-goutieres syndrome and pseudo-torch syndrome 2, and has symptoms including seizures, muscle spasticity and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome 2 is RNASEH2B (Ribonuclease H2 Subunit B). Affiliated tissues include brain, and related phenotypes are microcephaly and dystonia

More information from OMIM: 610181 PS225750

Related Diseases for Aicardi-Goutieres Syndrome 2

Graphical network of the top 20 diseases related to Aicardi-Goutieres Syndrome 2:



Diseases related to Aicardi-Goutieres Syndrome 2

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 2

Human phenotypes related to Aicardi-Goutieres Syndrome 2:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 dystonia 31 occasional (7.5%) HP:0001332
3 spastic paraplegia 31 occasional (7.5%) HP:0001258
4 encephalopathy 31 HP:0001298
5 cerebral atrophy 31 HP:0002059
6 chronic csf lymphocytosis 31 HP:0009704
7 lymphocytosis 31 HP:0100827
8 basal ganglia calcification 31 HP:0002135

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Head:
microcephaly (in some patients)

Laboratory Abnormalities:
no evidence of common prenatal infections
increased interferon-alpha signal
lymphocytosis in the cerebrospinal fluid

Neurologic Central Nervous System:
dystonia (in some patients)
normal early development
neurologic dysfunction, progressive
spastic paraplegia (in some patients)
encephalopathy (in some patients)
more

Clinical features from OMIM®:

610181 (Updated 20-May-2021)

UMLS symptoms related to Aicardi-Goutieres Syndrome 2:


seizures; muscle spasticity; petechiae of skin

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 2

Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 2

Genetic Tests for Aicardi-Goutieres Syndrome 2

Genetic tests related to Aicardi-Goutieres Syndrome 2:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 2 29 RNASEH2B

Anatomical Context for Aicardi-Goutieres Syndrome 2

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 2:

40
Brain

Publications for Aicardi-Goutieres Syndrome 2

Articles related to Aicardi-Goutieres Syndrome 2:

(show all 35)
# Title Authors PMID Year
1
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 57 6
25243380 2014
2
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 57 6
16845400 2006
3
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? 61 6
28762473 2017
4
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 61 6
26182405 2015
5
Aicardi-Goutières syndrome: description of a late onset case. 61 6
18754903 2008
6
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. 57 61
15908569 2006
7
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response. 6
26903602 2016
8
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. 6
26846091 2016
9
Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability. 6
25274781 2015
10
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 6
25604658 2015
11
Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. 6
25343331 2014
12
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 6
20131292 2010
13
Elevated pterins in cerebral spinal fluid--biochemical marker of Aicardi-Goutières syndrome. 6
19694776 2009
14
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. 6
19034401 2009
15
Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex. 6
19015152 2009
16
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 6
17846997 2007
17
The differences between fungal α-glucan synthase determining pullulan synthesis and that controlling cell wall α-1,3 glucan synthesis. 61
32569690 2020
18
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients. 61
32243572 2020
19
Identification of an AgS2 Complex on Ag(110). 61
31882617 2019
20
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications. 61
30826161 2019
21
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016
22
Cannabinoid receptor 2 expression modulates Gβ(1)γ(2) protein interaction with the activator of G protein signalling 2/dynein light chain protein Tctex-1. 61
26410677 2016
23
XAS Investigation of Silver(I) Coordination in Copper(I) Biological Binding Sites. 61
26632864 2015
24
Exposure-dependent Ag+ release from silver nanoparticles and its complexation in AgS2 sites in primary murine macrophages. 61
25824974 2015
25
Robustness against serum neutralization of a poliovirus type 1 from a lethal epidemic of poliomyelitis in the Republic of Congo in 2010. 61
25136105 2014
26
Silver(I) complex formation with cysteine, penicillamine, and glutathione. 61
23556419 2013
27
Deletion of the α-(1,3)-glucan synthase genes induces a restructuring of the conidial cell wall responsible for the avirulence of Aspergillus fumigatus. 61
24244155 2013
28
α1,3 glucans are dispensable in Aspergillus fumigatus. 61
22058140 2012
29
G protein beta gamma subunit interaction with the dynein light-chain component Tctex-1 regulates neurite outgrowth. 61
17491591 2007
30
AGS3, an alpha(1-3)glucan synthase gene family member of Aspergillus fumigatus, modulates mycelium growth in the lung of experimentally infected mice. 61
16531086 2006
31
Two alpha(1-3) glucan synthases with different functions in Aspergillus fumigatus. 61
15746357 2005
32
AGS proteins, GPR motifs and the signals processed by heterotrimeric G proteins. 61
15207906 2004
33
Receptor-independent activators of heterotrimeric G-proteins. 61
11358340 2001
34
Receptor-independent activators of heterotrimeric G-protein signaling pathways. 61
10559191 1999
35
Characterization of Saccharomyces cerevisiae mutants supersensitive to aminoglycoside antibiotics. 61
2989254 1985

Variations for Aicardi-Goutieres Syndrome 2

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 2:

6 (show top 50) (show all 98)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNASEH2B NM_001142279.2(RNASEH2B):c.510+1G>A SNV Pathogenic 650490 rs77301371 GRCh37: 13:51517531-51517531
GRCh38: 13:50943395-50943395
2 RNASEH2B NM_024570.4(RNASEH2B):c.491dup (p.Leu164fs) Duplication Pathogenic 870598 GRCh37: 13:51517509-51517510
GRCh38: 13:50943373-50943374
3 RNASEH2B NM_001142279.2(RNASEH2B):c.667G>T (p.Glu223Ter) SNV Pathogenic 540251 rs1555257383 GRCh37: 13:51522173-51522173
GRCh38: 13:50948037-50948037
4 RNASEH2B NM_001142279.2(RNASEH2B):c.121del (p.Val41fs) Deletion Pathogenic 567225 rs1452451283 GRCh37: 13:51501598-51501598
GRCh38: 13:50927462-50927462
5 RNASEH2B NM_024570.4(RNASEH2B):c.136+1del Deletion Pathogenic 566198 rs75186889 GRCh37: 13:51501614-51501614
GRCh38: 13:50927478-50927478
6 RNASEH2B NM_001142279.2(RNASEH2B):c.719C>G (p.Ser240Ter) SNV Pathogenic 582587 rs372632599 GRCh37: 13:51523619-51523619
GRCh38: 13:50949483-50949483
7 RNASEH2B NM_001142279.2(RNASEH2B):c.488C>T (p.Thr163Ile) SNV Pathogenic 650668 rs79310911 GRCh37: 13:51517508-51517508
GRCh38: 13:50943372-50943372
8 RNASEH2B NM_024570.4(RNASEH2B):c.436+1G>A SNV Pathogenic 1031376 GRCh37: 13:51509136-51509136
GRCh38: 13:50935000-50935000
9 RNASEH2B NM_001142279.2(RNASEH2B):c.554T>G (p.Val185Gly) SNV Pathogenic/Likely pathogenic 1263 rs74555752 GRCh37: 13:51519606-51519606
GRCh38: 13:50945470-50945470
10 RNASEH2B NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) SNV Pathogenic/Likely pathogenic 1262 rs75184679 GRCh37: 13:51519581-51519581
GRCh38: 13:50945445-50945445
11 RNASEH2B NM_001142279.2(RNASEH2B):c.356A>G (p.Asp119Gly) SNV Likely pathogenic 191042 rs786205483 GRCh37: 13:51509055-51509055
GRCh38: 13:50934919-50934919
12 RNASEH2B NM_001142279.2(RNASEH2B):c.179T>G (p.Leu60Arg) SNV Likely pathogenic 641111 rs75325951 GRCh37: 13:51503653-51503653
GRCh38: 13:50929517-50929517
13 RNASEH2B NM_024570.4(RNASEH2B):c.510+1del Deletion Likely pathogenic 663002 rs1593470515 GRCh37: 13:51517530-51517530
GRCh38: 13:50943394-50943394
14 RNASEH2B NM_001142279.2(RNASEH2B):c.741+4414A>G SNV Conflicting interpretations of pathogenicity 312332 rs200721645 GRCh37: 13:51528055-51528055
GRCh38: 13:50953919-50953919
15 RNASEH2B-AS1 , RNASEH2B NM_001142279.2(RNASEH2B):c.2T>C (p.Met1Thr) SNV Conflicting interpretations of pathogenicity 661979 rs1457494794 GRCh37: 13:51484214-51484214
GRCh38: 13:50910078-50910078
16 RNASEH2B NM_001142279.2(RNASEH2B):c.455A>G (p.Asn152Ser) SNV Conflicting interpretations of pathogenicity 312330 rs146451037 GRCh37: 13:51517475-51517475
GRCh38: 13:50943339-50943339
17 RNASEH2B NM_024570.4(RNASEH2B):c.904G>A (p.Gly302Arg) SNV Uncertain significance 1003969 GRCh37: 13:51530575-51530575
GRCh38: 13:50956439-50956439
18 RNASEH2B NM_024570.4(RNASEH2B):c.86AGA[1] (p.Lys30del) Microsatellite Uncertain significance 1007251 GRCh37: 13:51501563-51501565
GRCh38: 13:50927427-50927429
19 RNASEH2B NM_024570.4(RNASEH2B):c.616+5del Deletion Uncertain significance 1008663 GRCh37: 13:51519673-51519673
GRCh38: 13:50945537-50945537
20 RNASEH2B-AS1 , RNASEH2B NM_001142279.2(RNASEH2B):c.40C>T (p.Arg14Trp) SNV Uncertain significance 540250 rs900876937 GRCh37: 13:51484252-51484252
GRCh38: 13:50910116-50910116
21 RNASEH2B NM_001142279.2(RNASEH2B):c.618_619delinsTA (p.Glu206_Asp207delinsAspAsn) Indel Uncertain significance 642989 rs1593474848 GRCh37: 13:51522124-51522125
GRCh38: 13:50947988-50947989
22 RNASEH2B-AS1 , RNASEH2B NM_024570.4(RNASEH2B):c.20G>A (p.Cys7Tyr) SNV Uncertain significance 881149 GRCh37: 13:51484232-51484232
GRCh38: 13:50910096-50910096
23 RNASEH2B NM_024570.4(RNASEH2B):c.88A>G (p.Lys30Glu) SNV Uncertain significance 952295 GRCh37: 13:51501566-51501566
GRCh38: 13:50927430-50927430
24 RNASEH2B NM_024570.4(RNASEH2B):c.641G>A (p.Gly214Asp) SNV Uncertain significance 952966 GRCh37: 13:51522147-51522147
GRCh38: 13:50948011-50948011
25 RNASEH2B NM_024570.4(RNASEH2B):c.343C>G (p.Gln115Glu) SNV Uncertain significance 955720 GRCh37: 13:51509042-51509042
GRCh38: 13:50934906-50934906
26 RNASEH2B NM_024570.4(RNASEH2B):c.72A>T (p.Leu24Phe) SNV Uncertain significance 959880 GRCh37: 13:51501550-51501550
GRCh38: 13:50927414-50927414
27 RNASEH2B NM_024570.4(RNASEH2B):c.202G>C (p.Glu68Gln) SNV Uncertain significance 939440 GRCh37: 13:51503676-51503676
GRCh38: 13:50929540-50929540
28 RNASEH2B NM_024570.4(RNASEH2B):c.742-9A>G SNV Uncertain significance 1015880 GRCh37: 13:51528032-51528032
GRCh38: 13:50953896-50953896
29 RNASEH2B NM_024570.4(RNASEH2B):c.563G>A (p.Arg188Gln) SNV Uncertain significance 1018554 GRCh37: 13:51519615-51519615
GRCh38: 13:50945479-50945479
30 RNASEH2B-AS1 , RNASEH2B NM_024570.4(RNASEH2B):c.52T>A (p.Phe18Ile) SNV Uncertain significance 1027230 GRCh37: 13:51484264-51484264
GRCh38: 13:50910128-50910128
31 RNASEH2B NM_001142279.2(RNASEH2B):c.428A>T (p.Glu143Val) SNV Uncertain significance 652805 rs200535256 GRCh37: 13:51509127-51509127
GRCh38: 13:50934991-50934991
32 RNASEH2B NM_024570.4(RNASEH2B):c.250C>G (p.Leu84Val) SNV Uncertain significance 858934 GRCh37: 13:51504824-51504824
GRCh38: 13:50930688-50930688
33 RNASEH2B NM_024570.4(RNASEH2B):c.429G>C (p.Glu143Asp) SNV Uncertain significance 1035968 GRCh37: 13:51509128-51509128
GRCh38: 13:50934992-50934992
34 RNASEH2B NM_024570.4(RNASEH2B):c.239A>G (p.Gln80Arg) SNV Uncertain significance 1036017 GRCh37: 13:51503713-51503713
GRCh38: 13:50929577-50929577
35 RNASEH2B NM_024570.4(RNASEH2B):c.169C>A (p.Leu57Ile) SNV Uncertain significance 1039466 GRCh37: 13:51503643-51503643
GRCh38: 13:50929507-50929507
36 RNASEH2B-AS1 , RNASEH2B NM_024570.4(RNASEH2B):c.25G>C (p.Asp9His) SNV Uncertain significance 1041906 GRCh37: 13:51484237-51484237
GRCh38: 13:50910101-50910101
37 RNASEH2B NM_024570.4(RNASEH2B):c.609C>A (p.Asp203Glu) SNV Uncertain significance 1046991 GRCh37: 13:51519661-51519661
GRCh38: 13:50945525-50945525
38 RNASEH2B NM_001142279.2(RNASEH2B):c.308A>G (p.Lys103Arg) SNV Uncertain significance 645436 rs767086382 GRCh37: 13:51504882-51504882
GRCh38: 13:50930746-50930746
39 RNASEH2B NM_001142279.2(RNASEH2B):c.741+4440A>T SNV Uncertain significance 647110 rs1307271194 GRCh37: 13:51528081-51528081
GRCh38: 13:50953945-50953945
40 RNASEH2B NM_001142279.2(RNASEH2B):c.523G>A (p.Val175Met) SNV Uncertain significance 648067 rs141049110 GRCh37: 13:51519575-51519575
GRCh38: 13:50945439-50945439
41 RNASEH2B NM_001142279.2(RNASEH2B):c.285del (p.Leu96fs) Deletion Uncertain significance 631703 rs1566080738 GRCh37: 13:51504857-51504857
GRCh38: 13:50930721-50930721
42 RNASEH2B NM_024570.4(RNASEH2B):c.244+3A>G SNV Uncertain significance 933672 GRCh37: 13:51503721-51503721
GRCh38: 13:50929585-50929585
43 RNASEH2B NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=) SNV Uncertain significance 762288 rs759273327 GRCh37: 13:51509059-51509059
GRCh38: 13:50934923-50934923
44 RNASEH2B NC_000013.11:g.(?_50953885)_(50956494_?)del Deletion Uncertain significance 642640 GRCh37: 13:51528021-51530630
GRCh38: 13:50953885-50956494
45 RNASEH2B NM_001142279.2(RNASEH2B):c.767G>A (p.Gly256Asp) SNV Uncertain significance 992518 GRCh37: 13:51544093-51544093
GRCh38: 13:50969957-50969957
46 RNASEH2B NM_001142279.2(RNASEH2B):c.448A>G (p.Ile150Val) SNV Uncertain significance 658259 rs1593470380 GRCh37: 13:51517468-51517468
GRCh38: 13:50943332-50943332
47 RNASEH2B NM_001142279.2(RNASEH2B):c.445G>C (p.Glu149Gln) SNV Uncertain significance 663096 rs770355902 GRCh37: 13:51517465-51517465
GRCh38: 13:50943329-50943329
48 RNASEH2B NM_001142279.2(RNASEH2B):c.659T>C (p.Ile220Thr) SNV Uncertain significance 665255 rs747995413 GRCh37: 13:51522165-51522165
GRCh38: 13:50948029-50948029
49 RNASEH2B NM_001142279.2(RNASEH2B):c.741+7215A>G SNV Uncertain significance 312338 rs147825612 GRCh37: 13:51530856-51530856
GRCh38: 13:50956720-50956720
50 RNASEH2B-AS1 , RNASEH2B NM_001142279.2(RNASEH2B):c.-107G>A SNV Uncertain significance 312328 rs886050289 GRCh37: 13:51484106-51484106
GRCh38: 13:50909970-50909970

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 2:

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 RNASEH2B p.Leu60Arg VAR_027280 rs75325951
2 RNASEH2B p.His86Arg VAR_027281 rs77931005
3 RNASEH2B p.Lys162Thr VAR_027282 rs75971463
4 RNASEH2B p.Thr163Ile VAR_027283 rs79310911
5 RNASEH2B p.Ala177Thr VAR_027284 rs75184679
6 RNASEH2B p.Val185Gly VAR_027285 rs74555752
7 RNASEH2B p.Tyr219His VAR_027286 rs77391331
8 RNASEH2B p.Pro43His VAR_070611 rs79564863
9 RNASEH2B p.Trp73Leu VAR_070612 rs78071087
10 RNASEH2B p.Gly83Ser VAR_070613 rs76158094
11 RNASEH2B p.Leu138Phe VAR_070614 rs78705382
12 RNASEH2B p.Ser159Ile VAR_070615 rs76219783
13 RNASEH2B p.Val183Met VAR_070616 rs77377571
14 RNASEH2B p.Ser229Pro VAR_070617 rs768565639

Expression for Aicardi-Goutieres Syndrome 2

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 2.

Pathways for Aicardi-Goutieres Syndrome 2

GO Terms for Aicardi-Goutieres Syndrome 2

Sources for Aicardi-Goutieres Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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