AGS4
MCID: ACR091
MIFTS: 35

Aicardi-Goutieres Syndrome 4 (AGS4)

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 4

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 4:

Name: Aicardi-Goutieres Syndrome 4 57 72 13 70
Aicardi Goutieres Syndrome 4 29 6
Pseudo-Torch Syndrome 72 70
Ags4 57 72
Aicardi-Goutieres Syndrome, Type 4 39
Aicardi-Goutieres Syndrome 1 70
Cree Encephalitis 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in first year of life


HPO:

31
aicardi-goutieres syndrome 4:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset death in childhood


Classifications:



Summaries for Aicardi-Goutieres Syndrome 4

UniProtKB/Swiss-Prot : 72 Aicardi-Goutieres syndrome 4: 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 4, also known as aicardi goutieres syndrome 4, 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 4 is RNASEH2A (Ribonuclease H2 Subunit A). Affiliated tissues include brain, liver and prostate, and related phenotypes are spasticity and cerebral calcification

More information from OMIM: 610333 PS225750

Related Diseases for Aicardi-Goutieres Syndrome 4

Graphical network of the top 20 diseases related to Aicardi-Goutieres Syndrome 4:



Diseases related to Aicardi-Goutieres Syndrome 4

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 4

Human phenotypes related to Aicardi-Goutieres Syndrome 4:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 cerebral calcification 31 HP:0002514
3 hydrocephalus 31 HP:0000238
4 respiratory insufficiency 31 HP:0002093
5 splenomegaly 31 HP:0001744
6 hepatomegaly 31 HP:0002240
7 intrauterine growth retardation 31 HP:0001511
8 low-set ears 31 HP:0000369
9 elevated hepatic transaminase 31 HP:0002910
10 thrombocytopenia 31 HP:0001873
11 ventriculomegaly 31 HP:0002119
12 dystonia 31 HP:0001332
13 convex nasal ridge 31 HP:0000444
14 severe global developmental delay 31 HP:0011344
15 leukodystrophy 31 HP:0002415
16 feeding difficulties 31 HP:0011968
17 cerebellar atrophy 31 HP:0001272
18 cerebral atrophy 31 HP:0002059
19 pancytopenia 31 HP:0001876
20 hepatosplenomegaly 31 HP:0001433
21 progressive microcephaly 31 HP:0000253
22 csf lymphocytic pleiocytosis 31 HP:0200149
23 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hydrocephalus
leukodystrophy
cerebellar atrophy
cerebral atrophy
more
Abdomen Liver:
hepatomegaly
abnormal liver function tests

Growth Other:
intrauterine growth retardation

Hematology:
pancytopenia

Head And Neck Eyes:
visual inattention

Head And Neck Nose:
hooked nose

Immunology:
no evidence of prenatal infection

Abdomen Spleen:
splenomegaly

Head And Neck Head:
microcephaly

Head And Neck Ears:
low-set ears
anteriorly rotated ears

Abdomen Gastrointestinal:
poor feeding

Laboratory Abnormalities:
increased serum alpha-interferon (ifna1, )
csf lymphocytosis
increased csf interferon

Respiratory Lung:
respiratory insufficiency in neonatal period

Clinical features from OMIM®:

610333 (Updated 20-May-2021)

UMLS symptoms related to Aicardi-Goutieres Syndrome 4:


seizures; muscle spasticity; petechiae of skin

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 4

Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 4

Genetic Tests for Aicardi-Goutieres Syndrome 4

Genetic tests related to Aicardi-Goutieres Syndrome 4:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 4 29 RNASEH2A

Anatomical Context for Aicardi-Goutieres Syndrome 4

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 4:

40
Brain, Liver, Prostate, Kidney

Publications for Aicardi-Goutieres Syndrome 4

Articles related to Aicardi-Goutieres Syndrome 4:

(show all 24)
# Title Authors PMID Year
1
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 6 57
17846997 2007
2
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 57 6
16845400 2006
3
Genetic syndromes mimic congenital infections. 6 57
15870678 2005
4
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 6
24183309 2013
5
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. 57
23592335 2013
6
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. 6
21454563 2011
7
Multiscale Assembly of [AgS4 ] Tetrahedrons into Hierarchical Ag-S Networks for Robust Photonic Water. 61
33475199 2021
8
Two new members in the quaternary Cs-Ag-As-S family with different arrangements of Ag-S and As-S asymmetric building units: syntheses, structures, and theoretical studies. 61
32617543 2020
9
Regulation of Chemokine Signal Integration by Activator of G-Protein Signaling 4 (AGS4). 61
28062526 2017
10
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016
11
Direct Coupling of a Seven-Transmembrane-Span Receptor to a Gαi G-Protein Regulatory Motif Complex. 61
25972449 2015
12
Regulation of RGS5 GAP activity by GPSM3. 61
25842189 2015
13
A platonic solid templating Archimedean solid: an unprecedented nanometre-sized Ag37 cluster. 61
25882899 2015
14
Localization and expression profile of Group I and II Activators of G-protein Signaling in the kidney. 61
25533045 2015
15
Origin of Photoluminescence and XAFS Study of (ZnS)1-x(AgInS2)x Nanocrystals. 61
26276197 2014
16
G protein signaling modulator-3: a leukocyte regulator of inflammation in health and disease. 61
25143870 2014
17
Regulation of the G-protein regulatory-Gαi signaling complex by nonreceptor guanine nucleotide exchange factors. 61
23212907 2013
18
Regulation of the subcellular localization of the G-protein subunit regulator GPSM3 through direct association with 14-3-3 protein. 61
22843681 2012
19
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. 61
20653736 2010
20
Receptor-regulated interaction of activator of G-protein signaling-4 and Galphai. 61
20452976 2010
21
The proline-rich N-terminal domain of G18 exhibits a novel G protein regulatory function. 61
20097748 2010
22
Aicardi-Goutières syndrome: description of a late onset case. 61
18754903 2008
23
Identification and characterization of AGS4: a protein containing three G-protein regulatory motifs that regulate the activation state of Gialpha. 61
15096500 2004
24
Potassium thiocyanate argentates: K3[Ag(SCN)4], K4[Ag2(SCN)6] and K[Ag(SCN)2] . 61
11443238 2001

Variations for Aicardi-Goutieres Syndrome 4

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 4:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNASEH2A NM_006397.2(RNASEH2A):c.704G>A (p.Arg235Gln) SNV Pathogenic 66066 rs75718910 GRCh37: 19:12923963-12923963
GRCh38: 19:12813149-12813149
2 RNASEH2A NM_006397.2(RNASEH2A):c.207dup (p.Thr70fs) Duplication Pathogenic 126396 rs77672568 GRCh37: 19:12918026-12918027
GRCh38: 19:12807212-12807213
3 RNASEH2A NM_006397.2(RNASEH2A):c.690C>A (p.Phe230Leu) SNV Pathogenic 126398 rs79767407 GRCh37: 19:12923949-12923949
GRCh38: 19:12813135-12813135
4 RNASEH2A NM_006397.2(RNASEH2A):c.719C>T (p.Thr240Met) SNV Pathogenic 126400 rs79843600 GRCh37: 19:12923978-12923978
GRCh38: 19:12813164-12813164
5 RNASEH2A NM_006397.3(RNASEH2A):c.223G>T (p.Glu75Ter) SNV Pathogenic 1033099 GRCh37: 19:12918043-12918043
GRCh38: 19:12807229-12807229
6 RNASEH2A NM_006397.2(RNASEH2A):c.714_715GC[3] (p.Thr240fs) Microsatellite Pathogenic 126399 rs78705193 GRCh37: 19:12923972-12923973
GRCh38: 19:12813158-12813159
7 LOC117038795 , RNASEH2A NM_006397.2(RNASEH2A):c.109G>A (p.Gly37Ser) SNV Pathogenic 4641 rs76857106 GRCh37: 19:12917596-12917596
GRCh38: 19:12806782-12806782
8 LOC117038795 , RNASEH2A NM_006397.2(RNASEH2A):c.75C>T (p.Arg25=) SNV Pathogenic 66065 rs397515479 GRCh37: 19:12917562-12917562
GRCh38: 19:12806748-12806748
9 LOC117038795 , RNASEH2A NM_006397.2(RNASEH2A):c.69G>A (p.Val23=) SNV Pathogenic 66067 rs397515480 GRCh37: 19:12917556-12917556
GRCh38: 19:12806742-12806742
10 RNASEH2A NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) SNV Pathogenic 66068 rs77103971 GRCh37: 19:12921137-12921137
GRCh38: 19:12810323-12810323
11 RNASEH2A NM_006397.2(RNASEH2A):c.322C>T (p.Arg108Trp) SNV Pathogenic 126397 rs76436818 GRCh37: 19:12918142-12918142
GRCh38: 19:12807328-12807328
12 RNASEH2A NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) SNV Pathogenic/Likely pathogenic 445579 rs753679297 GRCh37: 19:12921138-12921138
GRCh38: 19:12810324-12810324
13 RNASEH2A NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu) SNV Likely pathogenic 983153 GRCh37: 19:12918140-12918140
GRCh38: 19:12807326-12807326
14 RNASEH2A NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) Duplication Conflicting interpretations of pathogenicity 632305 rs549586181 GRCh37: 19:12918023-12918024
GRCh38: 19:12807209-12807210
15 RNASEH2A NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) SNV Conflicting interpretations of pathogenicity 803523 rs758719669 GRCh37: 19:12924005-12924005
GRCh38: 19:12813191-12813191
16 LOC117038795 , RNASEH2A NM_006397.2(RNASEH2A):c.36C>T (p.Gly12=) SNV Conflicting interpretations of pathogenicity 532919 rs375139492 GRCh37: 19:12917523-12917523
GRCh38: 19:12806709-12806709
17 RNASEH2A NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln) SNV Conflicting interpretations of pathogenicity 716240 rs143029477 GRCh37: 19:12918237-12918237
GRCh38: 19:12807423-12807423
18 RNASEH2A NM_006397.2(RNASEH2A):c.758T>C (p.Ile253Thr) SNV Conflicting interpretations of pathogenicity 328295 rs145662304 GRCh37: 19:12924017-12924017
GRCh38: 19:12813203-12813203
19 RNASEH2A NM_006397.2(RNASEH2A):c.821A>G (p.Asn274Ser) SNV Uncertain significance 328298 rs373169862 GRCh37: 19:12924201-12924201
GRCh38: 19:12813387-12813387
20 RNASEH2A NM_006397.3(RNASEH2A):c.199+8C>G SNV Uncertain significance 889746 GRCh37: 19:12917901-12917901
GRCh38: 19:12807087-12807087
21 RNASEH2A NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=) SNV Uncertain significance 889747 GRCh37: 19:12918311-12918311
GRCh38: 19:12807497-12807497
22 RNASEH2A NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=) SNV Uncertain significance 889748 GRCh37: 19:12920989-12920989
GRCh38: 19:12810175-12810175
23 RNASEH2A NM_006397.3(RNASEH2A):c.550-13G>A SNV Uncertain significance 889749 GRCh37: 19:12921118-12921118
GRCh38: 19:12810304-12810304
24 RNASEH2A NM_006397.3(RNASEH2A):c.572A>G (p.Lys191Arg) SNV Uncertain significance 891292 GRCh37: 19:12921153-12921153
GRCh38: 19:12810339-12810339
25 RNASEH2A NM_006397.2(RNASEH2A):c.703C>T (p.Arg235Trp) SNV Uncertain significance 645703 rs773112247 GRCh37: 19:12923962-12923962
GRCh38: 19:12813148-12813148
26 RNASEH2A NM_006397.2(RNASEH2A):c.275C>T (p.Ala92Val) SNV Uncertain significance 657197 rs562864527 GRCh37: 19:12918095-12918095
GRCh38: 19:12807281-12807281
27 RNASEH2A NM_006397.2(RNASEH2A):c.715C>T (p.Arg239Cys) SNV Uncertain significance 659767 rs372667206 GRCh37: 19:12923974-12923974
GRCh38: 19:12813160-12813160
28 RNASEH2A NM_006397.2(RNASEH2A):c.324-6C>A SNV Uncertain significance 659829 rs1599533222 GRCh37: 19:12918227-12918227
GRCh38: 19:12807413-12807413
29 RNASEH2A NM_006397.2(RNASEH2A):c.439G>C (p.Glu147Gln) SNV Uncertain significance 664788 rs769486587 GRCh37: 19:12920912-12920912
GRCh38: 19:12810098-12810098
30 LOC117038795 , RNASEH2A NM_006397.2(RNASEH2A):c.-49C>T SNV Uncertain significance 328286 rs375281767 GRCh37: 19:12917439-12917439
GRCh38: 19:12806625-12806625
31 RNASEH2A NM_006397.2(RNASEH2A):c.894C>A (p.Ser298Arg) SNV Uncertain significance 448168 rs760066036 GRCh37: 19:12924274-12924274
GRCh38: 19:12813460-12813460
32 LOC117038795 , RNASEH2A NM_006397.3(RNASEH2A):c.-69G>A SNV Uncertain significance 889058 GRCh37: 19:12917419-12917419
GRCh38: 19:12806605-12806605
33 RNASEH2A NM_006397.3(RNASEH2A):c.*69G>A SNV Uncertain significance 889113 GRCh37: 19:12924349-12924349
GRCh38: 19:12813535-12813535
34 RNASEH2A NM_006397.3(RNASEH2A):c.*93A>G SNV Uncertain significance 889114 GRCh37: 19:12924373-12924373
GRCh38: 19:12813559-12813559
35 RNASEH2A NM_006397.2(RNASEH2A):c.*16G>T SNV Uncertain significance 328299 rs199696470 GRCh37: 19:12924296-12924296
GRCh38: 19:12813482-12813482
36 RNASEH2A NM_006397.2(RNASEH2A):c.290C>T (p.Ser97Phe) SNV Uncertain significance 548457 rs1457758264 GRCh37: 19:12918110-12918110
GRCh38: 19:12807296-12807296
37 RNASEH2A NM_006397.2(RNASEH2A):c.746C>A (p.Ala249Glu) SNV Uncertain significance 548458 rs758719669 GRCh37: 19:12924005-12924005
GRCh38: 19:12813191-12813191
38 RNASEH2A NM_006397.2(RNASEH2A):c.855C>G (p.His285Gln) SNV Uncertain significance 598755 rs1568388876 GRCh37: 19:12924235-12924235
GRCh38: 19:12813421-12813421
39 RNASEH2A NM_006397.2(RNASEH2A):c.635A>T (p.Asn212Ile) SNV Uncertain significance 66069 rs377244188 GRCh37: 19:12921216-12921216
GRCh38: 19:12810402-12810402
40 RNASEH2A NM_006397.2(RNASEH2A):c.637+8G>A SNV Uncertain significance 328292 rs757139110 GRCh37: 19:12921226-12921226
GRCh38: 19:12810412-12810412
41 RNASEH2A NM_006397.2(RNASEH2A):c.*68C>T SNV Uncertain significance 328301 rs564029348 GRCh37: 19:12924348-12924348
GRCh38: 19:12813534-12813534
42 RNASEH2A NM_006397.2(RNASEH2A):c.762-13C>G SNV Uncertain significance 328296 rs781591228 GRCh37: 19:12924129-12924129
GRCh38: 19:12813315-12813315
43 RNASEH2A NM_006397.2(RNASEH2A):c.*50T>C SNV Uncertain significance 328300 rs199822158 GRCh37: 19:12924330-12924330
GRCh38: 19:12813516-12813516
44 RNASEH2A NM_006397.2(RNASEH2A):c.285G>A (p.Val95=) SNV Uncertain significance 328289 rs374650162 GRCh37: 19:12918105-12918105
GRCh38: 19:12807291-12807291
45 RNASEH2A NM_006397.3(RNASEH2A):c.143C>G (p.Ala48Gly) SNV Uncertain significance 858132 GRCh37: 19:12917837-12917837
GRCh38: 19:12807023-12807023
46 RNASEH2A NM_006397.3(RNASEH2A):c.227G>A (p.Arg76Gln) SNV Uncertain significance 861478 GRCh37: 19:12918047-12918047
GRCh38: 19:12807233-12807233
47 RNASEH2A NM_006397.3(RNASEH2A):c.625G>C (p.Gly209Arg) SNV Uncertain significance 862565 GRCh37: 19:12921206-12921206
GRCh38: 19:12810392-12810392
48 RNASEH2A NM_006397.3(RNASEH2A):c.880G>A (p.Glu294Lys) SNV Uncertain significance 863226 GRCh37: 19:12924260-12924260
GRCh38: 19:12813446-12813446
49 RNASEH2A NM_006397.3(RNASEH2A):c.515A>G (p.Tyr172Cys) SNV Uncertain significance 935168 GRCh37: 19:12920988-12920988
GRCh38: 19:12810174-12810174
50 RNASEH2A NM_006397.2(RNASEH2A):c.760T>C (p.Trp254Arg) SNV Uncertain significance 451556 rs757666508 GRCh37: 19:12924019-12924019
GRCh38: 19:12813205-12813205

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 4:

72
# Symbol AA change Variation ID SNP ID
1 RNASEH2A p.Gly37Ser VAR_027377 rs76857106
2 RNASEH2A p.Arg108Trp VAR_070625 rs76436818
3 RNASEH2A p.Arg186Trp VAR_070626 rs77103971
4 RNASEH2A p.Phe230Leu VAR_070628 rs79767407
5 RNASEH2A p.Arg235Gln VAR_070629 rs75718910
6 RNASEH2A p.Thr240Met VAR_070630 rs79843600
7 RNASEH2A p.Arg291His VAR_070632 rs75037667

Expression for Aicardi-Goutieres Syndrome 4

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 4.

Pathways for Aicardi-Goutieres Syndrome 4

GO Terms for Aicardi-Goutieres Syndrome 4

Sources for Aicardi-Goutieres Syndrome 4

3 CDC
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11 DGIdb
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57 OMIM® (Updated 20-May-2021)
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71 UMLS via Orphanet
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