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AGS
MCID: ACR001
MIFTS: 63

Aicardi-Goutieres Syndrome (AGS)

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

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MalaCards integrated aliases for Aicardi-Goutieres Syndrome:

Name: Aicardi-Goutieres Syndrome 12 77 54 26 55 38 15 41 74
Aicardi Goutieres Syndrome 54 26 30 6
Encephalopathy with Basal Ganglia Calcification 54 26 60
Aicardi-Goutières Syndrome 25 26 60
Cree Encephalitis 12 54 26
Encephalopathy with Intracranial Calcification and Chronic Lymphocytosis of Cerebrospinal Fluid 54 60
Pseudotoxoplasmosis Syndrome 54 26
Ags 54 26
Encephalopathy, Familial Infantile, with Calcification of Basal Ganglia and Chronic Cerebrospinal Fluid Lymphocytosis 54
Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 26
Aicardi-Goutieres Syndrome 1 74

Characteristics:

Orphanet epidemiological data:

60
aicardi-goutières syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Bone diseases Blood diseases Skin diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare neurological diseases
Rare systemic and rhumatological diseases
Rare immunological diseases


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Summaries for Aicardi-Goutieres Syndrome

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NINDS : 55 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. Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease. AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS. The mutations of four different genes are associated with AGS: Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, AGS2 is caused by a mutation in the RNASEH2B gene, AGS3 is caused by a mutation in the RNASEH2C gene, AGS4 is caused by a mutation in the RNASEH2A gene. Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS. NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).

MalaCards based summary : Aicardi-Goutieres Syndrome, also known as aicardi goutieres syndrome, is related to aicardi-goutieres syndrome 2 and aicardi-goutieres syndrome 1, and has symptoms including seizures and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome is RNASEH2B (Ribonuclease H2 Subunit B), and among its related pathways/superpathways are Cytosolic DNA-sensing pathway and DNA replication. The drugs Emtricitabine and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, and related phenotypes are spasticity and arrhinencephaly

Disease Ontology : 12 An autosomal genetic 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 : 26 Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.

NIH Rare Diseases : 54 Aicardi-Goutieres syndrome is an inherited disease that mainly affects the brain, immune system, and the skin. Loss of white matter in the brain (leukodystrophy) and abnormal deposits of calcium (calcification) in the brain leads to an 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 and muscle stiffness (spasticity), involuntary muscle twisting and contractions (dystonia), and weak muscle tone (hypotonia) in the torso. Other signs and symptoms may include a very small head (microcephaly), presence of white blood cells and other sign of inflammation in the  cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). Symptoms usually progress over several months before the disease course stabilizes.  There are several types of Aicardi-Goutieres syndrome, depending on the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR and IFIH1, genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive. The prognosis depends mainly on the severity neurologic problems and in the age of onset of these problems.

Wikipedia : 77 Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi... more...

GeneReviews: NBK1475
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Related Diseases for Aicardi-Goutieres Syndrome

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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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 4083)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 2 34.8 RNASEH2B RNASEH2B-AS1
2 aicardi-goutieres syndrome 1 34.7 SHISA5 TREX1
3 aicardi-goutieres syndrome 5 34.7 SAMHD1 TLDC2
4 aicardi-goutieres syndrome 7 34.7 GCA IFIH1
5 aicardi-goutieres syndrome 3 34.6 KAT5 RNASEH2C
6 familial chilblain lupus 31.1 SAMHD1 TMEM173 TREX1
7 early onset absence epilepsy 31.0 ADAR CHRNB2
8 chilblain lupus 1 30.3 CGAS EXO1 IFIH1 SAMHD1 TMEM173 TREX1
9 aicardi-goutieres syndrome 4 12.9
10 aicardi-goutieres syndrome 6 12.8
11 macular degeneration, age-related, 1 12.6
12 aging 12.4
13 neuropathy, hereditary, with or without age-related macular degeneration 12.4
14 macular degeneration, age-related, 2 12.4
15 macular degeneration, age-related, 5 12.4
16 macular degeneration, age-related, 12 12.4
17 macular degeneration, age-related, 6 12.4
18 macular degeneration, age-related, 4 12.4
19 macular degeneration, age-related, 14 12.4
20 age-related hearing loss 12.4
21 macular degeneration, age-related, 10 12.3
22 premature aging syndrome, penttinen type 12.3
23 macular degeneration, age-related, 13 12.3
24 macular degeneration, age-related, 7 12.3
25 macular degeneration, age-related, 8 12.3
26 macular degeneration, age-related, 9 12.3
27 macular degeneration, age-related, 11 12.3
28 macular degeneration, age-related, 15 12.3
29 age-related hearing impairment 1 12.2
30 age-related hearing impairment 2 12.1
31 cataract, age-related nuclear 12.1
32 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.1
33 menarche, age at, quantitative trait locus 1 12.1
34 menopause, natural, age at, quantitative trait locus 1 12.0
35 premature aging syndrome, okamoto type 12.0
36 menopause, natural, age at, quantitative trait locus 2 12.0
37 menopause, natural, age at, quantitative trait locus 4 12.0
38 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 12.0
39 creases, infra-auricular cutaneous, with tall stature and advanced bone age 11.9
40 menarche, age at, quantitative trait locus 2 11.9
41 menarche, age at, quantitative trait locus 3 11.9
42 dwarfism lethal type advanced bone age 11.9
43 gigantism advanced bone age hoarse cry 11.9
44 marfanoid habitus-inguinal hernia-advanced bone age syndrome 11.9
45 short stature-advanced bone age-early-onset osteoarthritis syndrome 11.9
46 ceroid lipofuscinosis, neuronal, 1 11.8
47 perniosis 11.8
48 ceroid lipofuscinosis, neuronal, 2 11.7
49 werner syndrome 11.7
50 cataract 28 11.7

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



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

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Human phenotypes related to Aicardi-Goutieres Syndrome:

60 33 (show top 50) (show all 75)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
2 arrhinencephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002139
3 intellectual disability, profound 60 33 hallmark (90%) Very frequent (99-80%) HP:0002187
4 porencephalic cyst 33 hallmark (90%) HP:0002132
5 global developmental delay 60 33 frequent (33%) Very frequent (99-80%) HP:0001263
6 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
7 hemiplegia/hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0004374
8 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
9 hepatosplenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001433
10 multifocal cerebral white matter abnormalities 60 33 frequent (33%) Very frequent (99-80%) HP:0007052
11 eyelid coloboma 33 frequent (33%) HP:0000625
12 brain atrophy 60 33 occasional (7.5%) Frequent (79-30%) HP:0012444
13 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
14 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
15 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
16 seizures 60 33 occasional (7.5%) Frequent (79-30%) HP:0001250
17 cerebral calcification 60 33 occasional (7.5%) Frequent (79-30%) HP:0002514
18 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
19 cardiomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001640
20 plagiocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001357
21 micropenis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000054
22 demyelinating peripheral neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0007108
23 developmental glaucoma 33 occasional (7.5%) HP:0001087
24 low-set ears 60 Occasional (29-5%)
25 abnormality of eye movement 60 Occasional (29-5%)
26 nystagmus 60 Occasional (29-5%)
27 tremor 60 Occasional (29-5%)
28 developmental regression 60 Frequent (79-30%)
29 abnormal pyramidal signs 60 Occasional (29-5%)
30 arthritis 60 Occasional (29-5%)
31 short stature 60 Frequent (79-30%)
32 hypertonia 60 Very frequent (99-80%)
33 acrocyanosis 60 Occasional (29-5%)
34 spastic tetraplegia 60 Occasional (29-5%)
35 lipoatrophy 60 Very rare (<4-1%)
36 hypertrophic cardiomyopathy 60 Very rare (<4-1%)
37 irritability 60 Frequent (79-30%)
38 dry skin 60 Frequent (79-30%)
39 elevated hepatic transaminases 60 Frequent (79-30%)
40 autoimmunity 60 Frequent (79-30%)
41 ventriculomegaly 60 Frequent (79-30%)
42 multiple joint contractures 60 Occasional (29-5%)
43 muscle stiffness 60 Occasional (29-5%)
44 glaucoma 60 Occasional (29-5%)
45 difficulty walking 60 Frequent (79-30%)
46 hoarse voice 60 Occasional (29-5%)
47 abnormality of extrapyramidal motor function 60 Frequent (79-30%)
48 headache 60 Occasional (29-5%)
49 prolonged neonatal jaundice 60 Occasional (29-5%)
50 myositis 60 Very rare (<4-1%)

UMLS symptoms related to Aicardi-Goutieres Syndrome:


seizures, petechiae of skin

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 EXO1 KAT5 RNASEH2A RNASEH2B RNASEH2C TREX1

MGI Mouse Phenotypes related to Aicardi-Goutieres Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.96 ADAR CGAS CHRNB2 EXO1 IFIH1 KAT5
2 homeostasis/metabolism MP:0005376 9.9 ADAR ATRIP CGAS CHRNB2 EXO1 IFIH1
3 immune system MP:0005387 9.73 ADAR CGAS CHRNB2 EXO1 GCA IFIH1
4 mortality/aging MP:0010768 9.44 ADAR ATRIP CGAS CHRNB2 EXO1 IFIH1
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Drugs & Therapeutics for Aicardi-Goutieres Syndrome

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Emtricitabine Approved, Investigational Phase 1, Phase 2 143491-57-0 60877
2
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
3
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
4
Abacavir Approved, Investigational Phase 2 136470-78-5 441300 65140
5
Zidovudine Approved Phase 2 30516-87-1 35370
6
Tenofovir Experimental, Investigational Phase 1, Phase 2 147127-20-6 464205
7 interferons Phase 1, Phase 2,Phase 2
8 Antiviral Agents Phase 1, Phase 2,Phase 2
9 Anti-Infective Agents Phase 1, Phase 2,Phase 2
10 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2,Phase 2
11 Anti-Retroviral Agents Phase 1, Phase 2,Phase 2
12 Reverse Transcriptase Inhibitors Phase 1, Phase 2,Phase 2
13 Anti-HIV Agents Phase 1, Phase 2,Phase 2
14 Pharmaceutical Solutions Phase 2
15 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome Not yet recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)
2 Reverse Transcriptase Inhibitors in AGS Completed NCT02363452 Phase 2 Reverse transcriptase inhibitors: Zidovudine, Lamivudine, Abacavir
3 Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes No longer available NCT01724580 Baricitinib

Search NIH Clinical Center for Aicardi-Goutieres Syndrome

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Genetic Tests for Aicardi-Goutieres Syndrome

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Genetic tests related to Aicardi-Goutieres Syndrome:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 30
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Anatomical Context for Aicardi-Goutieres Syndrome

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MalaCards organs/tissues related to Aicardi-Goutieres Syndrome:

42
Brain, Skin, Liver, Eye, Testes, Spinal Cord, Spleen
Sources

Publications for Aicardi-Goutieres Syndrome

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Articles related to Aicardi-Goutieres Syndrome:

(show all 44)
# Title Authors Year
1
Efficacy of baricitinib in the treatment of chilblains associated with the type I interferonopathy Aicardi-Goutières syndrome. ( 30666809 )
2019
2
Prenatal presentation of Aicardi-Goutières Syndrome: Non-specific phenotype necessitates exome sequencing for definitive diagnosis. ( 30681164 )
2019
3
Novel manifestation of Aicardi-Goutières syndrome: Temporomandibular joint ankylosis. ( 30690315 )
2019
4
Recurrent Encephalopathy with Spinal Cord Involvement: An Atypical Manifestation of Aicardi-Goutières Syndrome. ( 30692772 )
2019
5
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications. ( 30826161 )
2019
6
Aicardi-Goutières Syndrome associated mutations of RNase H2B impair its interaction with ZMYM3 and the CoREST histone-modifying complex. ( 30889214 )
2019
7
Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome. ( 30898416 )
2019
8
Aicardi goutières syndrome is associated with pulmonary hypertension. ( 30219631 )
2018
9
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. ( 30275001 )
2018
10
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome ( 30566312 )
2018
11
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis. ( 30593198 )
2018
12
A SAMHD1 mutation associated with Aicardi-Goutieres Syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans. ( 28229507 )
2017
13
MRI Features Predictive of Aicardi-Goutieres Syndrome. ( 26933531 )
2015
14
Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? ( 24989684 )
2014
15
Chronic exposure of astrocytes to interferon-I+ reveals molecular changes related to Aicardi-Goutieres syndrome. ( 23365100 )
2013
16
A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. ( 24300241 )
2013
17
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. ( 22829693 )
2013
18
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? ( 22940555 )
2013
19
Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction. ( 23364794 )
2013
20
Aicardi-Goutieres syndrome: A genetic disorder which mimics congenital intrauterine infection. ( 23466847 )
2013
21
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome. ( 21862834 )
2012
22
Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. ( 23001123 )
2012
23
Aicardi-Goutieres syndrome: from patients to genes and beyond. ( 22149989 )
2012
24
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands. ( 22882256 )
2012
25
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. ( 21633013 )
2011
26
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. ( 21454563 )
2011
27
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutieres syndrome defects. ( 21177858 )
2011
28
Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase. ( 22069334 )
2011
29
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. ( 21808053 )
2011
30
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
31
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi- Goutieres syndrome. ( 20799324 )
2010
32
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. ( 19525956 )
2009
33
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. ( 19034401 )
2009
34
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. ( 19808788 )
2009
35
Aicardi-Goutieres syndrome. ( 19129251 )
2009
36
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. ( 19628626 )
2009
37
Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome. ( 18596240 )
2008
38
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ( 17846997 )
2007
39
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. ( 17357087 )
2007
40
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. ( 16845398 )
2006
41
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi- Goutieres syndrome and mimic congenital viral brain infection. ( 16845400 )
2006
42
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. ( 15908569 )
2006
43
Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters. ( 15776321 )
2005
44
Aicardi-Goutieres syndrome in siblings. ( 11669350 )
2001
Sources

Variations for Aicardi-Goutieres Syndrome

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ClinVar genetic disease variations for Aicardi-Goutieres Syndrome:

6 (show top 50) (show all 302)
# Gene Variation Type Significance SNP ID Assembly Location
1 RNASEH2B NM_024570.3(RNASEH2B): c.529G> A (p.Ala177Thr) single nucleotide variant Pathogenic/Likely pathogenic rs75184679 GRCh37 Chromosome 13, 51519581: 51519581
2 RNASEH2B NM_024570.3(RNASEH2B): c.529G> A (p.Ala177Thr) single nucleotide variant Pathogenic/Likely pathogenic rs75184679 GRCh38 Chromosome 13, 50945445: 50945445
3 TREX1 NM_033629.5(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395
4 TREX1 NM_033629.5(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh38 Chromosome 3, 48466996: 48466996
5 SAMHD1 NM_015474.3(SAMHD1): c.602T> A (p.Ile201Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138603088 GRCh37 Chromosome 20, 35559186: 35559186
6 SAMHD1 NM_015474.3(SAMHD1): c.602T> A (p.Ile201Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs138603088 GRCh38 Chromosome 20, 36930783: 36930783
7 RNASEH2A NM_006397.2(RNASEH2A): c.556C> T (p.Arg186Trp) single nucleotide variant Likely pathogenic rs77103971 GRCh37 Chromosome 19, 12921137: 12921137
8 RNASEH2A NM_006397.2(RNASEH2A): c.556C> T (p.Arg186Trp) single nucleotide variant Likely pathogenic rs77103971 GRCh38 Chromosome 19, 12810323: 12810323
9 TREX1 NM_033629.5(TREX1): c.531T= (p.Tyr177=) single nucleotide variant Benign rs11797 GRCh37 Chromosome 3, 48508585: 48508585
10 TREX1 NM_033629.5(TREX1): c.531T= (p.Tyr177=) single nucleotide variant Benign rs11797 GRCh38 Chromosome 3, 48467186: 48467186
11 TREX1 NM_033629.5(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 GRCh37 Chromosome 3, 48508851: 48508851
12 TREX1 NM_033629.5(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 GRCh38 Chromosome 3, 48467452: 48467452
13 ADAR NM_001111.5(ADAR): c.577C> G (p.Pro193Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145588689 GRCh38 Chromosome 1, 154602065: 154602065
14 ADAR NM_001111.5(ADAR): c.577C> G (p.Pro193Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145588689 GRCh37 Chromosome 1, 154574541: 154574541
15 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh38 Chromosome 3, 48467567: 48467567
16 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh37 Chromosome 3, 48508966: 48508966
17 RNASEH2C NM_032193.3(RNASEH2C): c.-10A> G single nucleotide variant Benign/Likely benign rs77371161 GRCh37 Chromosome 11, 65488239: 65488239
18 RNASEH2C NM_032193.3(RNASEH2C): c.-10A> G single nucleotide variant Benign/Likely benign rs77371161 GRCh38 Chromosome 11, 65720768: 65720768
19 RNASEH2B NM_024570.3(RNASEH2B): c.156G> A (p.Leu52=) single nucleotide variant Benign/Likely benign rs35416748 GRCh37 Chromosome 13, 51503630: 51503630
20 RNASEH2B NM_024570.3(RNASEH2B): c.156G> A (p.Leu52=) single nucleotide variant Benign/Likely benign rs35416748 GRCh38 Chromosome 13, 50929494: 50929494
21 RNASEH2A NM_006397.2(RNASEH2A): c.33A> G (p.Thr11=) single nucleotide variant Benign/Likely benign rs11554400 GRCh38 Chromosome 19, 12806706: 12806706
22 RNASEH2A NM_006397.2(RNASEH2A): c.33A> G (p.Thr11=) single nucleotide variant Benign/Likely benign rs11554400 GRCh37 Chromosome 19, 12917520: 12917520
23 RNASEH2A NM_006397.2(RNASEH2A): c.462G> A (p.Gln154=) single nucleotide variant Benign/Likely benign rs7257575 GRCh38 Chromosome 19, 12810121: 12810121
24 RNASEH2A NM_006397.2(RNASEH2A): c.462G> A (p.Gln154=) single nucleotide variant Benign/Likely benign rs7257575 GRCh37 Chromosome 19, 12920935: 12920935
25 RNASEH2A NM_006397.2(RNASEH2A): c.550-11T> C single nucleotide variant Benign/Likely benign rs7247253 GRCh38 Chromosome 19, 12810306: 12810306
26 RNASEH2A NM_006397.2(RNASEH2A): c.550-11T> C single nucleotide variant Benign/Likely benign rs7247253 GRCh37 Chromosome 19, 12921120: 12921120
27 RNASEH2A NM_006397.2(RNASEH2A): c.605T> C (p.Leu202Ser) single nucleotide variant Benign/Likely benign rs7247284 GRCh38 Chromosome 19, 12810372: 12810372
28 RNASEH2A NM_006397.2(RNASEH2A): c.605T> C (p.Leu202Ser) single nucleotide variant Benign/Likely benign rs7247284 GRCh37 Chromosome 19, 12921186: 12921186
29 RNASEH2B NM_024570.3(RNASEH2B): c.925dupA (p.Ile309Asnfs) duplication Benign/Likely benign rs75254367 GRCh37 Chromosome 13, 51530596: 51530596
30 RNASEH2B NM_024570.3(RNASEH2B): c.925dupA (p.Ile309Asnfs) duplication Benign/Likely benign rs75254367 GRCh38 Chromosome 13, 50956460: 50956460
31 RNASEH2B NM_024570.3(RNASEH2B): c.787A> G (p.Thr263Ala) single nucleotide variant Uncertain significance rs150363383 GRCh37 Chromosome 13, 51528086: 51528086
32 RNASEH2B NM_024570.3(RNASEH2B): c.787A> G (p.Thr263Ala) single nucleotide variant Uncertain significance rs150363383 GRCh38 Chromosome 13, 50953950: 50953950
33 TREX1 NM_033629.5(TREX1): c.-515T> C single nucleotide variant Likely benign rs148393533 GRCh38 Chromosome 3, 48465821: 48465821
34 TREX1 NM_033629.5(TREX1): c.-515T> C single nucleotide variant Likely benign rs148393533 GRCh37 Chromosome 3, 48507220: 48507220
35 TREX1 NM_033629.4(TREX1): c.-510delC deletion Likely benign rs3135939 GRCh38 Chromosome 3, 48465826: 48465826
36 TREX1 NM_033629.4(TREX1): c.-510delC deletion Likely benign rs3135939 GRCh37 Chromosome 3, 48507225: 48507225
37 TREX1 NM_033629.5(TREX1): c.-100C> T single nucleotide variant Uncertain significance rs886058623 GRCh38 Chromosome 3, 48466236: 48466236
38 TREX1 NM_033629.5(TREX1): c.-100C> T single nucleotide variant Uncertain significance rs886058623 GRCh37 Chromosome 3, 48507635: 48507635
39 TREX1 NM_033629.5(TREX1): c.-60C> T single nucleotide variant Likely benign rs2279076 GRCh38 Chromosome 3, 48466276: 48466276
40 TREX1 NM_033629.5(TREX1): c.-60C> T single nucleotide variant Likely benign rs2279076 GRCh37 Chromosome 3, 48507675: 48507675
41 TREX1 NM_033629.5(TREX1): c.9G> A (p.Ser3=) single nucleotide variant Uncertain significance rs762687506 GRCh38 Chromosome 3, 48466664: 48466664
42 TREX1 NM_033629.5(TREX1): c.9G> A (p.Ser3=) single nucleotide variant Uncertain significance rs762687506 GRCh37 Chromosome 3, 48508063: 48508063
43 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh38 Chromosome 3, 48466853: 48466853
44 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh37 Chromosome 3, 48508252: 48508252
45 TREX1 NM_033629.5(TREX1): c.418A> G (p.Met140Val) single nucleotide variant Uncertain significance rs761526437 GRCh38 Chromosome 3, 48467073: 48467073
46 TREX1 NM_033629.5(TREX1): c.418A> G (p.Met140Val) single nucleotide variant Uncertain significance rs761526437 GRCh37 Chromosome 3, 48508472: 48508472
47 TREX1 NM_033629.5(TREX1): c.-199A> G single nucleotide variant Uncertain significance rs767364235 GRCh38 Chromosome 3, 48466137: 48466137
48 TREX1 NM_033629.5(TREX1): c.-199A> G single nucleotide variant Uncertain significance rs767364235 GRCh37 Chromosome 3, 48507536: 48507536
49 TREX1 NM_033629.5(TREX1): c.-68T> C single nucleotide variant Benign rs3135941 GRCh38 Chromosome 3, 48466268: 48466268
50 TREX1 NM_033629.5(TREX1): c.-68T> C single nucleotide variant Benign rs3135941 GRCh37 Chromosome 3, 48507667: 48507667
Sources

Expression for Aicardi-Goutieres Syndrome

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

Pathways for Aicardi-Goutieres Syndrome

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Pathways related to Aicardi-Goutieres Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Cytosolic DNA-sensing pathway hsa04623
2 DNA replication hsa03030
3 RIG-I-like receptor signaling pathway hsa04622

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

# Super pathways Score Top Affiliating Genes
1
Cell Cycle Checkpoints 67
Show member pathways
 12.13 ATRIP EXO1 KAT5 WRN
2
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways 67
Show member pathways
 12.02 ADAR CGAS IFIH1 TMEM173 TREX1
3
Cytosolic sensors of pathogen-associated DNA 67
Show member pathways
 11.87 CGAS IFIH1 TMEM173 TREX1
4
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 67
Show member pathways
 11.68 EXO1 KAT5 WRN
5
Homologous DNA Pairing and Strand Exchange 67
Show member pathways
 11.22 ATRIP EXO1 KAT5 WRN
Sources

GO Terms for Aicardi-Goutieres Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.77 ADAR ATRIP EXO1 HIST2H2AA3 IFIH1 KAT5
2 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 19)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.93 ADAR CGAS IFIH1 SAMHD1 TMEM173
2 cellular response to DNA damage stimulus GO:0006974 9.89 ATRIP CGAS EXO1 SAMHD1 WRN
3 immune system process GO:0002376 9.88 ADAR CGAS EXO1 IFIH1 SAMHD1 TMEM173
4 DNA repair GO:0006281 9.83 ATRIP EXO1 SAMHD1 TREX1 WRN
5 DNA recombination GO:0006310 9.72 EXO1 TREX1 WRN
6 defense response to virus GO:0051607 9.65 ADAR CGAS IFIH1 SAMHD1 TMEM173
7 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.63 EXO1 RNASEH2A RNASEH2B
8 positive regulation of defense response to virus by host GO:0002230 9.58 CGAS TMEM173
9 activation of innate immune response GO:0002218 9.58 CGAS TMEM173
10 cellular response to interferon-beta GO:0035458 9.57 TMEM173 TREX1
11 somatic hypermutation of immunoglobulin genes GO:0016446 9.56 EXO1 SAMHD1
12 mismatch repair GO:0006298 9.54 EXO1 RNASEH2A TREX1
13 regulation of type I interferon production GO:0032479 9.52 TMEM173 TREX1
14 t-circle formation GO:0090656 9.51 EXO1 WRN
15 RNA catabolic process GO:0006401 9.5 RNASEH2A RNASEH2B RNASEH2C
16 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.48 ADAR SAMHD1
17 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.35 ATRIP EXO1 RNASEH2A TREX1 WRN
18 cellular response to exogenous dsRNA GO:0071360 9.33 CGAS IFIH1 TMEM173
19 DNA replication GO:0006260 9.17 ATRIP EXO1 KAT5 RNASEH2A SAMHD1 TREX1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.98 ADAR EXO1 IFIH1 RNASEH2A SAMHD1 TREX1
2 ribonuclease activity GO:0004540 9.46 RNASEH2A SAMHD1
3 nuclease activity GO:0004518 9.46 EXO1 RNASEH2A TREX1 WRN
4 double-stranded DNA binding GO:0003690 9.37 CGAS TREX1
5 3'-5' exonuclease activity GO:0008408 9.32 TREX1 WRN
6 MutLalpha complex binding GO:0032405 9.26 TREX1 WRN
7 RNA-DNA hybrid ribonuclease activity GO:0004523 9.13 EXO1 RNASEH2A RNASEH2B
8 exonuclease activity GO:0004527 8.92 ATRIP EXO1 TREX1 WRN
9 metal ion binding GO:0046872 10.1 ADAR CGAS EXO1 GCA IFIH1 KAT5
Sources

Sources for Aicardi-Goutieres Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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