AGS
MCID: ACR001
MIFTS: 54

Aicardi-Goutieres Syndrome (AGS) malady

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

Aliases & Classifications for Aicardi-Goutieres Syndrome

Aliases & Descriptions for Aicardi-Goutieres Syndrome:

Name: Aicardi-Goutieres Syndrome 12 50 24 25 14 69 23 56
Cree Encephalitis 12 50 25 51
Encephalopathy with Basal Ganglia Calcification 50 25 56
Pseudotoxoplasmosis Syndrome 50 25 51
Encephalopathy with Intracranial Calcification and Chronic Lymphocytosis of Cerebrospinal Fluid 50 56
Aicardi-Goutieres Syndrome Disorder 51 29
Aicardi Goutieres Syndrome 50 25
Pseudo-Torch Syndrome 25 69
Ags 50 25
Encephalopathy, Familial Infantile, with Calcification of Basal Ganglia and Chronic Cerebrospinal Fluid Lymphocytosis 50
Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 25
Aicardi-Goutieres Syndrome 1 69

Characteristics:

Orphanet epidemiological data:

56
aicardi-goutières syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050629
ICD10 33 G31.8
Orphanet 56 ORPHA51
MESH via Orphanet 43 C535607
ICD10 via Orphanet 34 G31.8
UMLS via Orphanet 70 C0393591

Summaries for Aicardi-Goutieres Syndrome

NIH Rare Diseases : 50 aicardi-goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. it is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. symptoms usually progress over several months before the disease course stabilizes. there are six different types of aicardi-goutieres syndrome, which are distinguished by the gene that causes the condition: trex1, rnaseh2a, rnaseh2b, rnaseh2c, samhd1, and adar genes. most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. treatment is symptomatic and supportive. last updated: 10/8/2013

MalaCards based summary : Aicardi-Goutieres Syndrome, also known as cree encephalitis, is related to chilblain lupus and aicardi-goutieres syndrome 1, dominant and recessive, and has symptoms including seizures, ptosis and spasticity. An important gene associated with Aicardi-Goutieres Syndrome is RNASEH2B (Ribonuclease H2 Subunit B), and among its related pathways/superpathways are Innate Immune System and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. The drugs Gemcitabine and Abacavir have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and skin, and related phenotype is mortality/aging.

Disease Ontology : 12 An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.

Genetics Home Reference : 25 Aicardi-Goutieres syndrome is a disorder that mainly affects the brain, the immune system, and the skin.

NINDS : 51 Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection.

GeneReviews: NBK1475

Related Diseases for Aicardi-Goutieres Syndrome

Diseases in the Aicardi-Goutieres Syndrome family:

Aicardi-Goutieres Syndrome 6 Aicardi-Goutieres Syndrome 7
Aicardi-Goutieres Syndrome 1, Dominant and Recessive Aicardi-Goutieres Syndrome 3
Aicardi-Goutieres Syndrome 2 Aicardi-Goutieres Syndrome 4
Aicardi-Goutieres Syndrome 5 Adar-Related Aicardi-Goutieres Syndrome
Ifih1-Related Aicardi-Goutieres Syndrome

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

(show top 50) (show all 138)
id Related Disease Score Top Affiliating Genes
1 chilblain lupus 32.5 RNASEH2C TREX1
2 aicardi-goutieres syndrome 1, dominant and recessive 12.6
3 aicardi-goutieres syndrome 3 12.6
4 aicardi-goutieres syndrome 2 12.6
5 aicardi-goutieres syndrome 5 12.6
6 aicardi-goutieres syndrome 4 12.6
7 aicardi-goutieres syndrome 6 12.5
8 aicardi-goutieres syndrome 7 12.5
9 macular degeneration, age-related, 1 12.2
10 adar-related aicardi-goutieres syndrome 12.1
11 ifih1-related aicardi-goutieres syndrome 12.1
12 premature aging syndrome, penttinen type 12.0
13 macular degeneration, age-related, 7 12.0
14 macular degeneration, age-related, 8 12.0
15 macular degeneration, age-related, 3 12.0
16 macular degeneration, age-related, 4 12.0
17 macular degeneration, age-related 5 12.0
18 macular degeneration, age-related, 2 12.0
19 macular degeneration, age-related, 6 12.0
20 macular degeneration, age-related, 9 12.0
21 macular degeneration, age-related, 11 12.0
22 macular degeneration, age-related, 12 12.0
23 macular degeneration, age-related, 10 12.0
24 macular degeneration, age-related, 14, reduced risk of 11.9
25 macular degeneration, age-related, 13 11.9
26 macular degeneration, age-related, 15 11.9
27 age-related hearing impairment 1 11.9
28 age-related hearing impairment 2 11.9
29 premature aging okamoto type 11.7
30 short stature-advanced bone age-early-onset osteoarthritis syndrome 11.6
31 dwarfism lethal type advanced bone age 11.6
32 gigantism advanced bone age hoarse cry 11.6
33 bulimia nervosa, age of onset of weight loss in 11.6
34 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 11.6
35 marfanoid habitus-inguinal hernia-advanced bone age syndrome 11.6
36 werner syndrome 11.5
37 cataract 6, multiple types 11.4
38 febrile infection-related epilepsy syndrome 11.3
39 ceroid lipofuscinosis, neuronal, 1 11.3
40 band-like calcification with simplified gyration and polymicrogyria 11.3
41 ceroid lipofuscinosis, neuronal, 5 11.2
42 ceroid lipofuscinosis, neuronal, 2 11.2
43 ceroid lipofuscinosis, neuronal, 6 11.2
44 floating-harbor syndrome 11.2
45 epileptic encephalopathy, early infantile, 1 11.1
46 encephalopathy 11.1
47 striatonigral degeneration, infantile 11.1
48 autosomal recessive chorioretinopathy-microcephaly syndrome 11.1
49 li-fraumeni syndrome 11.0
50 alzheimer disease 11.0

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



Diseases related to Aicardi-Goutieres Syndrome

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome

Human phenotypes related to Aicardi-Goutieres Syndrome:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 ptosis 56 32 Occasional (29-5%) HP:0000508
3 spasticity 56 32 Very frequent (99-80%) HP:0001257
4 microcephaly 56 32 Occasional (29-5%) HP:0000252
5 hemiplegia/hemiparesis 56 32 Frequent (79-30%) HP:0004374
6 arrhinencephaly 56 32 Very frequent (99-80%) HP:0002139
7 intellectual disability, profound 56 32 Very frequent (99-80%) HP:0002187
8 plagiocephaly 56 32 Occasional (29-5%) HP:0001357
9 cleft eyelid 56 32 Frequent (79-30%) HP:0000625
10 porencephaly 56 32 Very frequent (99-80%) HP:0002132
11 hypertonia 56 Very frequent (99-80%)

UMLS symptoms related to Aicardi-Goutieres Syndrome:


seizures, muscle spasticity

MGI Mouse Phenotypes related to Aicardi-Goutieres Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.4 MB21D1 MGA RNASEH2B RNASEH2C SAMHD1 TMEM173

Drugs & Therapeutics for Aicardi-Goutieres Syndrome

Drugs for Aicardi-Goutieres Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 2 95058-81-4 60750
2
Abacavir Approved, Investigational Phase 2 136470-78-5 65140 441300
3
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
4
Zidovudine Approved Phase 2 30516-87-1 35370
5 Antibodies Phase 2
6 Antibodies, Monoclonal Phase 2
7 Anti-Infective Agents Phase 2
8 Antimetabolites Phase 2
9 Antimetabolites, Antineoplastic Phase 2
10 Antiviral Agents Phase 2
11 Immunoglobulins Phase 2
12 Immunosuppressive Agents Phase 2
13 Anti-HIV Agents Phase 2
14 Anti-Retroviral Agents Phase 2
15 interferons Phase 2
16 Nucleic Acid Synthesis Inhibitors Phase 2
17 Pharmaceutical Solutions Phase 2
18 Reverse Transcriptase Inhibitors Phase 2
19 Hormone Antagonists Phase 1
20 Hormones Phase 1
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 A Study of AGS-1C4D4 in Pancreatic Cancer Subjects Previously Treated in Protocol 2008002 Completed NCT01608711 Phase 2
2 A Study of AGS-1C4D4 Given in Combination With Gemcitabine in Subjects With Metastatic Pancreatic Cancer Completed NCT00902291 Phase 2
3 Reverse Transcriptase Inhibitors in AGS Recruiting NCT02363452 Phase 2
4 AGS-1C4D4 in Patients With Advanced Hormone Refractory Prostate Cancer Completed NCT00519233 Phase 1
5 Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes Available NCT01724580

Search NIH Clinical Center for Aicardi-Goutieres Syndrome

Genetic Tests for Aicardi-Goutieres Syndrome

Genetic tests related to Aicardi-Goutieres Syndrome:

id Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 29
2 Aicardi-Goutieres Syndrome 24 TREX1

Anatomical Context for Aicardi-Goutieres Syndrome

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome:

39
Liver, Brain, Skin, Spleen, Bone

Publications for Aicardi-Goutieres Syndrome

Articles related to Aicardi-Goutieres Syndrome:

(show all 31)
id Title Authors Year
1
MRI Features Predictive of Aicardi-Goutieres Syndrome. ( 26933531 )
2015
2
Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? ( 24989684 )
2014
3
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? ( 22940555 )
2013
4
Chronic exposure of astrocytes to interferon-I+ reveals molecular changes related to Aicardi-Goutieres syndrome. ( 23365100 )
2013
5
A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. ( 24300241 )
2013
6
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. ( 22829693 )
2013
7
Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction. ( 23364794 )
2013
8
Aicardi-Goutieres syndrome: A genetic disorder which mimics congenital intrauterine infection. ( 23466847 )
2013
9
Aicardi-Goutieres syndrome: from patients to genes and beyond. ( 22149989 )
2012
10
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands. ( 22882256 )
2012
11
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome. ( 21862834 )
2012
12
Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. ( 23001123 )
2012
13
Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase. ( 22069334 )
2011
14
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. ( 21454563 )
2011
15
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutieres syndrome defects. ( 21177858 )
2011
16
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. ( 21808053 )
2011
17
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. ( 21633013 )
2011
18
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi- Goutieres syndrome. ( 20799324 )
2010
19
Cerebral arterial stenoses and stroke: novel features of Aicardi- Goutieres syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. ( 20842748 )
2010
20
Aicardi-Goutieres syndrome. ( 19129251 )
2009
21
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. ( 19034401 )
2009
22
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. ( 19525956 )
2009
23
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. ( 19628626 )
2009
24
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. ( 19808788 )
2009
25
Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome. ( 18596240 )
2008
26
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ( 17846997 )
2007
27
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. ( 17357087 )
2007
28
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. ( 15908569 )
2006
29
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi- Goutieres syndrome and mimic congenital viral brain infection. ( 16845400 )
2006
30
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. ( 16845398 )
2006
31
Aicardi-Goutieres syndrome in siblings. ( 11669350 )
2001

Variations for Aicardi-Goutieres Syndrome

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RNASEH2B NM_024570.3(RNASEH2B): c.529G> A (p.Ala177Thr) single nucleotide variant Pathogenic rs75184679 GRCh37 Chromosome 13, 51519581: 51519581
2 TREX1 NM_033629.4(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395

Expression for Aicardi-Goutieres Syndrome

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

Pathways for Aicardi-Goutieres Syndrome

Pathways related to Aicardi-Goutieres Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 ADAR DCAF1 IFIH1 IFNA1 ISG20 MB21D1
2
Show member pathways
12.07 ADAR IFIH1 IFNA1 MB21D1 TMEM173 TREX1
3
Show member pathways
12.05 ADAR IFNA1 ISG20 SAMHD1 USP18
4
Show member pathways
11.97 IFIH1 MB21D1 TMEM173 TREX1
5
Show member pathways
11.23 ADAR IFNA1 ISG20 SAMHD1 USP18
6
Show member pathways
10.73 ADAR USP18

GO Terms for Aicardi-Goutieres Syndrome

Cellular components related to Aicardi-Goutieres Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ribonuclease H2 complex GO:0032299 8.8 RNASEH2A RNASEH2B RNASEH2C

Biological processes related to Aicardi-Goutieres Syndrome according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.85 ADAR EXO1 IFIH1 ISG20 MB21D1 TMEM173
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.76 EXO1 RNASEH2A RNASET2 TREX1
3 response to virus GO:0009615 9.7 ADAR IFIH1 ISG20
4 innate immune response GO:0045087 9.7 ADAR IFIH1 IFNA1 ISG20 MB21D1 SAMHD1
5 type I interferon signaling pathway GO:0060337 9.62 ADAR IFNA1 ISG20 SAMHD1
6 RNA phosphodiester bond hydrolysis GO:0090501 9.61 RNASEH2A RNASET2 SAMHD1
7 mismatch repair GO:0006298 9.58 EXO1 RNASEH2A TREX1
8 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.56 EXO1 RNASEH2A RNASEH2B RNASET2
9 regulation of type I interferon-mediated signaling pathway GO:0060338 9.55 IFNA1 USP18
10 positive regulation of defense response to virus by host GO:0002230 9.54 MB21D1 TMEM173
11 regulation of type I interferon production GO:0032479 9.51 TMEM173 TREX1
12 defense response to virus GO:0051607 9.5 ADAR IFIH1 IFNA1 ISG20 MB21D1 SAMHD1
13 cellular response to exogenous dsRNA GO:0071360 9.49 MB21D1 TMEM173
14 activation of innate immune response GO:0002218 9.48 MB21D1 TMEM173
15 RNA catabolic process GO:0006401 9.02 ISG20 RNASEH2A RNASEH2B RNASEH2C RNASET2

Molecular functions related to Aicardi-Goutieres Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.91 ADAR EXO1 IFIH1 ISG20 RNASEH2A RNASET2
2 endonuclease activity GO:0004519 9.54 EXO1 RNASEH2A RNASET2
3 exonuclease activity GO:0004527 9.5 EXO1 ISG20 TREX1
4 ribonuclease activity GO:0004540 9.33 RNASEH2A RNASET2 SAMHD1
5 RNA-DNA hybrid ribonuclease activity GO:0004523 9.13 EXO1 RNASEH2A RNASEH2B
6 nuclease activity GO:0004518 9.02 EXO1 ISG20 RNASEH2A RNASET2 TREX1

Sources for Aicardi-Goutieres Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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