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AGS3
MCID: ACR088
MIFTS: 35

Aicardi-Goutieres Syndrome 3 (AGS3)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Aicardi-Goutieres Syndrome 3

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MalaCards integrated aliases for Aicardi-Goutieres Syndrome 3:

Name: Aicardi-Goutieres Syndrome 3 56 73 13 71
Aicardi Goutieres Syndrome 3 29 6
Pseudo-Torch Syndrome 73 71
Ags3 56 73
Aicardi-Goutieres Syndrome, Type 3 39
Aicardi-Goutieres Syndrome 1 71
Cree Encephalitis 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy
one patient with normal psychomotor development has been reported


HPO:

31
aicardi-goutieres syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive
Clinical modifier death in childhood


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 610329
OMIM Phenotypic Series 56 PS225750
MedGen 41 C1835916
UMLS 71 C0796126 C1835916 C3489725
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Summaries for Aicardi-Goutieres Syndrome 3

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OMIM : 56 Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750). (610329)

MalaCards based summary : Aicardi-Goutieres Syndrome 3, also known as aicardi goutieres syndrome 3, is related to pseudo-torch syndrome 2 and aicardi-goutieres syndrome 1, and has symptoms including seizures, muscle spasticity and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome 3 is RNASEH2C (Ribonuclease H2 Subunit C). Affiliated tissues include brain, eye and skin, and related phenotypes are spasticity and hyperreflexia

UniProtKB/Swiss-Prot : 73 Aicardi-Goutieres syndrome 3: 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.

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Related Diseases for Aicardi-Goutieres Syndrome 3

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Diseases in the Aicardi-Goutieres Syndrome family:

Aicardi-Goutieres Syndrome 1 Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 3 Aicardi-Goutieres Syndrome 4
Aicardi-Goutieres Syndrome 5 Aicardi-Goutieres Syndrome 6
Aicardi-Goutieres Syndrome 7

Diseases related to Aicardi-Goutieres Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 pseudo-torch syndrome 2 13.0
2 aicardi-goutieres syndrome 1 12.3
3 aicardi-goutieres syndrome 12.0
4 hoyeraal hreidarsson syndrome 11.9
5 aicardi-goutieres syndrome 2 11.4
6 aicardi-goutieres syndrome 4 11.4
7 aicardi-goutieres syndrome 5 11.4
8 aicardi-goutieres syndrome 6 11.4
9 microcephaly 10.4
10 pertussis 10.3
11 cerebellar hypoplasia 10.3
12 myeloma, multiple 10.1
13 pulmonary disease, chronic obstructive 10.1
14 aspergillosis 10.1
15 opioid addiction 10.1
16 brain injury 10.1
17 traumatic brain injury 10.1
18 dandy-walker syndrome 10.1
19 dyskeratosis congenita, x-linked 10.1
20 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
21 hydrocephalus 10.1
22 thrombocytopenia 10.1
23 neonatal jaundice 10.1
24 bilirubin metabolic disorder 10.1
25 rubella 10.1
26 toxoplasmosis 10.1
27 polymicrogyria 10.1
28 seizure disorder 10.1
29 spasticity 10.1
30 type 1 interferonopathy 10.1
31 pseudo-torch syndrome 1 10.0
32 encephalitis 10.0
33 congenital intrauterine infection-like syndrome 10.0
34 torch syndrome 10.0
35 encephalopathy 10.0

Graphical network of the top 20 diseases related to Aicardi-Goutieres Syndrome 3:



Diseases related to Aicardi-Goutieres Syndrome 3
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Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 3

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Human phenotypes related to Aicardi-Goutieres Syndrome 3:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 hyperreflexia 31 HP:0001347
3 nystagmus 31 HP:0000639
4 cerebral calcification 31 HP:0002514
5 generalized hypotonia 31 HP:0001290
6 severe global developmental delay 31 HP:0011344
7 elevated hepatic transaminase 31 HP:0002910
8 dystonia 31 HP:0001332
9 thrombocytopenia 31 HP:0001873
10 hypoplasia of the corpus callosum 31 HP:0002079
11 encephalopathy 31 HP:0001298
12 hepatosplenomegaly 31 HP:0001433
13 delayed myelination 31 HP:0012448
14 progressive microcephaly 31 HP:0000253
15 csf lymphocytic pleiocytosis 31 HP:0200149
16 chilblains 31 HP:0009710

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
encephalopathy
delayed myelination
intracranial calcifications
thin corpus callosum
more
Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
nystagmus
roving eye movements
visual inattention

Skin Nails Hair Skin:
chilblains

Laboratory Abnormalities:
increased csf alpha-interferon
csf lymphocytosis
increased serum alpha-interferon

Clinical features from OMIM:

610329

UMLS symptoms related to Aicardi-Goutieres Syndrome 3:


seizures, muscle spasticity, petechiae of skin
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Drugs & Therapeutics for Aicardi-Goutieres Syndrome 3

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Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 3

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Genetic Tests for Aicardi-Goutieres Syndrome 3

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Genetic tests related to Aicardi-Goutieres Syndrome 3:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 3 29
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Anatomical Context for Aicardi-Goutieres Syndrome 3

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MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 3:

40
Brain, Eye, Skin, Kidney, Cortex, Heart, Lung
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Publications for Aicardi-Goutieres Syndrome 3

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Articles related to Aicardi-Goutieres Syndrome 3:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. 56 6
23322642 2013
2
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 56 6
16845400 2006
3
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 6
17846997 2007
4
Aicardi-Goutières Syndrome 6
20301648 2005
5
Activator of G protein signaling 3 modulates prostate tumor development and progression. 61
31215992 2019
6
Role of G-proteins and phosphorylation in the distribution of AGS3 to cell puncta. 61
30404823 2018
7
A Residue outside the Binding Site Determines the Gα Binding Specificity of GoLoco Motifs. 61
30406994 2018
8
Urinary exosomal expression of activator of G protein signaling 3 in polycystic kidney disease. 61
29880041 2018
9
Loss of the canonical spindle orientation function in the Pins/LGN homolog AGS3. 61
28684399 2017
10
Ric-8A, an activator protein of Gαi, controls mammalian epithelial cell polarity for tight junction assembly and cystogenesis. 61
28185378 2017
11
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016
12
Regulation of Airway Inflammation by G-protein Regulatory Motif Peptides of AGS3 protein. 61
27270970 2016
13
Regulator of G-protein signalling and GoLoco proteins suppress TRPC4 channel function via acting at Gαi/o. 61
26987813 2016
14
In vitro mitomycin C absorption and delivery with different sponge materials used in filtering surgery. 61
27143843 2016
15
Activator of G-Protein Signaling 3-Induced Lysosomal Biogenesis Limits Macrophage Intracellular Bacterial Infection. 61
26667172 2016
16
XAS Investigation of Silver(I) Coordination in Copper(I) Biological Binding Sites. 61
26632864 2015
17
Activator of G-protein Signaling 3 Controls Renal Epithelial Cell Survival and ERK5 Activation. 61
27096004 2015
18
Direct Coupling of a Seven-Transmembrane-Span Receptor to a Gαi G-Protein Regulatory Motif Complex. 61
25972449 2015
19
Overexpression of activator of G-protein signaling 3 decreases the proliferation of esophageal squamous cell carcinoma. 61
25812748 2015
20
AGS3 is involved in TNF-α medicated osteogenic differentiation of human dental pulp stem cells. 61
26143356 2015
21
Localization and expression profile of Group I and II Activators of G-protein Signaling in the kidney. 61
25533045 2015
22
Activator of G protein signaling 3 forms a complex with resistance to inhibitors of cholinesterase-8A without promoting nucleotide exchange on Gα(i3). 61
25480567 2015
23
Gαi3-Dependent Inhibition of JNK Activity on Intracellular Membranes. 61
26389115 2015
24
Development of inhibitors of heterotrimeric Gαi subunits. 61
24818958 2014
25
Implications of non-canonical G-protein signaling for the immune system. 61
24583286 2014
26
Defective chemokine signal integration in leukocytes lacking activator of G protein signaling 3 (AGS3). 61
24573680 2014
27
G Protein-coupled receptor kinase-6 interacts with activator of G protein signaling-3 to regulate CXCR2-mediated cellular functions. 61
24510965 2014
28
A role for activator of G-protein signaling 3 (AGS3) in multiple myeloma. 61
24307516 2014
29
The cell polarity protein mInsc regulates neutrophil chemotaxis via a noncanonical G protein signaling pathway. 61
23891662 2013
30
Translocation of activator of G-protein signaling 3 to the Golgi apparatus in response to receptor activation and its effect on the trans-Golgi network. 61
23770668 2013
31
IGF-1 activates a cilium-localized noncanonical Gβγ signaling pathway that regulates cell-cycle progression. 61
23954591 2013
32
Differential effects of AGS3 expression on D(2L) dopamine receptor-mediated adenylyl cyclase signaling. 61
23504261 2013
33
Increased expression of AGS3 in rat brain cortex after traumatic brain injury. 61
23404409 2013
34
Silver(I) complex formation with cysteine, penicillamine, and glutathione. 61
23556419 2013
35
Regulation of the G-protein regulatory-Gαi signaling complex by nonreceptor guanine nucleotide exchange factors. 61
23212907 2013
36
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
37
Normal autophagic activity in macrophages from mice lacking Gαi3, AGS3, or RGS19. 61
24312373 2013
38
N-Acetyl-cysteine causes analgesia by reinforcing the endogenous activation of type-2 metabotropic glutamate receptors. 61
23088864 2012
39
The G-protein regulator LGN modulates the activity of the NO receptor soluble guanylate cyclase. 61
22690686 2012
40
α1,3 glucans are dispensable in Aspergillus fumigatus. 61
22058140 2012
41
Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN). 61
22074847 2011
42
Dynamic localization of C. elegans TPR-GoLoco proteins mediates mitotic spindle orientation by extrinsic signaling. 61
21903670 2011
43
Loss of activator of G-protein signaling 3 impairs renal tubular regeneration following acute kidney injury in rodents. 61
21343176 2011
44
A GDI (AGS3) and a GEF (GIV) regulate autophagy by balancing G protein activity and growth factor signals. 61
21209316 2011
45
Asymmetric cell divisions promote Notch-dependent epidermal differentiation. 61
21331036 2011
46
Regulation of the AGS3·G{alpha}i signaling complex by a seven-transmembrane span receptor. 61
20716524 2010
47
Activators of G-protein signaling 3: a drug addiction molecular gateway. 61
20700046 2010
48
Activator of G protein signaling 3 promotes epithelial cell proliferation in PKD. 61
20488951 2010
49
Amphetamine up-regulates activator of G-protein signaling 1 mRNA and protein levels in rat frontal cortex: the role of dopamine and glucocorticoid receptors. 61
20298760 2010
50
[The effect of AGS3 on the I(A) of newborn rat prefrontal cortical neurons pretreated by chronic morphine]. 61
20684276 2010
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Variations for Aicardi-Goutieres Syndrome 3

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ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 3:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNASEH2C NM_032193.3(RNASEH2C):c.428A>T (p.Lys143Ile)SNV Pathogenic 1261 rs75146158 11:65487556-65487556 11:65720085-65720085
2 RNASEH2C NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp)SNV Pathogenic/Likely pathogenic 1260 rs78635798 11:65487856-65487856 11:65720385-65720385
3 RNASEH2C NM_032193.3(RNASEH2C):c.178dup (p.Glu60fs)duplication Likely pathogenic 203392 rs772940104 11:65487882-65487883 11:65720411-65720412
4 RNASEH2C NM_032193.3(RNASEH2C):c.468+13G>ASNV Conflicting interpretations of pathogenicity 305358 rs182000627 11:65487503-65487503 11:65720032-65720032
5 RNASEH2C NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=)SNV Conflicting interpretations of pathogenicity 305361 rs147021687 11:65487567-65487567 11:65720096-65720096
6 RNASEH2C NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=)SNV Conflicting interpretations of pathogenicity 374648 rs61736590 11:65487516-65487516 11:65720045-65720045
7 RNASEH2C NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr)SNV Uncertain significance 464266 rs773527127 11:65488115-65488115 11:65720644-65720644
8 RNASEH2C NM_032193.3(RNASEH2C):c.268_269delinsGT (p.Lys90Val)indel Uncertain significance 570365 rs1565213438 11:65487792-65487793 11:65720321-65720322
9 RNASEH2C NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly)SNV Uncertain significance 580991 rs939276490 11:65487801-65487801 11:65720330-65720330
10 RNASEH2C NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly)SNV Uncertain significance 582219 rs773830258 11:65488174-65488174 11:65720703-65720703
11 RNASEH2C NM_032193.3(RNASEH2C):c.472C>G (p.His158Asp)SNV Uncertain significance 659651 11:65487277-65487277 11:65719806-65719806
12 RNASEH2C NM_032193.3(RNASEH2C):c.434G>T (p.Arg145Leu)SNV Uncertain significance 640757 11:65487550-65487550 11:65720079-65720079
13 RNASEH2C NM_032193.3(RNASEH2C):c.169G>A (p.Glu57Lys)SNV Uncertain significance 640671 11:65488061-65488061 11:65720590-65720590
14 RNASEH2C NM_032193.3(RNASEH2C):c.434G>C (p.Arg145Pro)SNV Uncertain significance 203393 rs774773395 11:65487550-65487550 11:65720079-65720079
15 RNASEH2C NM_032193.3(RNASEH2C):c.-10A>GSNV Benign/Likely benign 262018 rs77371161 11:65488239-65488239 11:65720768-65720768

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 RNASEH2C p.Arg69Trp VAR_027287 rs78635798
2 RNASEH2C p.Lys143Ile VAR_027288 rs75146158
3 RNASEH2C p.Arg13His VAR_070618 rs75328625
4 RNASEH2C p.Asp39Tyr VAR_070619 rs773527127
5 RNASEH2C p.Pro76Leu VAR_070620 rs76091978
6 RNASEH2C p.Pro138Leu VAR_070621
7 RNASEH2C p.Pro151Ser VAR_070622 rs78464826

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Expression for Aicardi-Goutieres Syndrome 3

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Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 3.
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Pathways for Aicardi-Goutieres Syndrome 3

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GO Terms for Aicardi-Goutieres Syndrome 3

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Sources for Aicardi-Goutieres Syndrome 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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