MCID: ACR001
MIFTS: 56

Aicardi-Goutieres Syndrome

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

Aliases & Classifications for Aicardi-Goutieres Syndrome

MalaCards integrated aliases for Aicardi-Goutieres Syndrome:

Name: Aicardi-Goutieres Syndrome 12 53 25 37 15 40 73 24 25 59
Aicardi Goutieres Syndrome 53 25 29 6
Encephalopathy with Basal Ganglia Calcification 53 25 59
Cree Encephalitis 12 53 25
Encephalopathy with Intracranial Calcification and Chronic Lymphocytosis of Cerebrospinal Fluid 53 59
Pseudotoxoplasmosis Syndrome 53 25
Ags 53 25
Encephalopathy, Familial Infantile, with Calcification of Basal Ganglia and Chronic Cerebrospinal Fluid Lymphocytosis 53
Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 25
Aicardi-Goutieres Syndrome 1 73

Characteristics:

Orphanet epidemiological data:

59
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 59 ORPHA51
MESH via Orphanet 45 C535607
ICD10 via Orphanet 34 G31.8
UMLS via Orphanet 74 C0393591
KEGG 37 H00290

Summaries for Aicardi-Goutieres Syndrome

NINDS : 54 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 3 and aicardi-goutieres syndrome 7, and has symptoms including seizures and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways are Cytosolic DNA-sensing pathway and Cell Cycle Checkpoints. The drugs Gemcitabine and Abacavir have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skin, and related phenotypes are microcephaly and ptosis

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.

NIH Rare Diseases : 53 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 : 76 Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi... more...

GeneReviews: NBK1475

Related Diseases for Aicardi-Goutieres Syndrome

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 68)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 3 35.0 KAT5 RNASEH2C
2 aicardi-goutieres syndrome 7 34.8 GCA IFIH1
3 aicardi-goutieres syndrome 1 34.7 SHISA5 TREX1
4 familial chilblain lupus 31.1 SAMHD1 TMEM173 TREX1
5 chilblain lupus 1 29.7 CGAS EXO1 IFIH1 SAMHD1 TMEM173 TREX1
6 aicardi-goutieres syndrome 2 12.7
7 aicardi-goutieres syndrome 4 12.7
8 aicardi-goutieres syndrome 5 12.7
9 aicardi-goutieres syndrome 6 12.7
10 macular degeneration, age-related, 1 12.4
11 aging 12.3
12 macular degeneration, age-related, 10 12.2
13 premature aging syndrome, penttinen type 12.2
14 age-related hearing loss 12.1
15 neuropathy, hereditary, with or without age-related macular degeneration 12.1
16 macular degeneration, age-related, 2 12.1
17 macular degeneration, age-related, 5 12.1
18 macular degeneration, age-related, 13 12.1
19 macular degeneration, age-related, 7 12.1
20 macular degeneration, age-related, 8 12.1
21 macular degeneration, age-related, 4 12.1
22 macular degeneration, age-related, 9 12.1
23 macular degeneration, age-related, 11 12.1
24 macular degeneration, age-related, 6 12.1
25 macular degeneration, age-related, 12 12.1
26 macular degeneration, age-related, 14 12.1
27 macular degeneration, age-related, 15 12.1
28 age-related hearing impairment 1 12.0
29 age-related hearing impairment 2 12.0
30 cataract, age-related nuclear 12.0
31 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.9
32 menarche, age at, quantitative trait locus 1 11.9
33 menopause, natural, age at, quantitative trait locus 1 11.8
34 premature aging syndrome, okamoto type 11.8
35 menopause, natural, age at, quantitative trait locus 2 11.8
36 menopause, natural, age at, quantitative trait locus 4 11.8
37 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 11.8
38 creases, infra-auricular cutaneous, with tall stature and advanced bone age 11.7
39 menarche, age at, quantitative trait locus 2 11.7
40 menarche, age at, quantitative trait locus 3 11.7
41 dwarfism lethal type advanced bone age 11.7
42 gigantism advanced bone age hoarse cry 11.7
43 marfanoid habitus-inguinal hernia-advanced bone age syndrome 11.7
44 short stature-advanced bone age-early-onset osteoarthritis syndrome 11.7
45 ceroid lipofuscinosis, neuronal, 1 11.6
46 werner syndrome 11.6
47 ceroid lipofuscinosis, neuronal, 5 11.5
48 cataract 28 11.5
49 parkinson disease, late-onset 11.5
50 cataract 6, multiple types 11.5

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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
2 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
3 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
5 plagiocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001357
6 arrhinencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002139
7 intellectual disability, profound 59 32 hallmark (90%) Very frequent (99-80%) HP:0002187
8 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
9 cleft eyelid 59 Frequent (79-30%)
10 hypertonia 59 Very frequent (99-80%)
11 porencephaly 59 Very frequent (99-80%)
12 eyelid coloboma 32 frequent (33%) HP:0000625
13 porencephalic cyst 32 hallmark (90%) HP:0002132

UMLS symptoms related to Aicardi-Goutieres Syndrome:


seizures, petechiae of skin

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 WRN ADAR CGAS EXO1 IFIH1 ISG20
2 homeostasis/metabolism MP:0005376 9.9 ADAR ATRIP CGAS EXO1 IFIH1 KAT5
3 immune system MP:0005387 9.77 ADAR CGAS EXO1 GCA IFIH1 ISG20
4 mortality/aging MP:0010768 9.44 ADAR ATRIP CGAS EXO1 IFIH1 KAT5

Drugs & Therapeutics for Aicardi-Goutieres Syndrome

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

(show all 24)
# 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
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
6
Emtricitabine Approved, Investigational Phase 1, Phase 2 143491-57-0 60877
7 Antibodies Phase 2
8 Antibodies, Monoclonal Phase 2
9 Anti-Infective Agents Phase 2,Phase 1
10 Antimetabolites Phase 2
11 Antimetabolites, Antineoplastic Phase 2
12 Antiviral Agents Phase 2,Phase 1
13 Immunoglobulins Phase 2
14 Immunosuppressive Agents Phase 2
15 Anti-HIV Agents Phase 2,Phase 1
16 Anti-Retroviral Agents Phase 2,Phase 1
17 interferons Phase 2,Phase 1
18 Nucleic Acid Synthesis Inhibitors Phase 2,Phase 1
19 Pharmaceutical Solutions Phase 2
20 Reverse Transcriptase Inhibitors Phase 2,Phase 1
21
Tenofovir Phase 1, Phase 2 147127-20-6 464205
22 Hormone Antagonists Phase 1
23 Hormones Phase 1
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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 Active, not recruiting NCT02363452 Phase 2 Reverse transcriptase inhibitors: Zidovudine, Lamivudine, Abacavir
4 Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome Not yet recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)
5 AGS-1C4D4 in Patients With Advanced Hormone Refractory Prostate Cancer Completed NCT00519233 Phase 1 AGS-1C4D4
6 Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes Available NCT01724580 Baricitinib

Search NIH Clinical Center for Aicardi-Goutieres Syndrome

Genetic Tests for Aicardi-Goutieres Syndrome

Genetic tests related to Aicardi-Goutieres Syndrome:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 29

Anatomical Context for Aicardi-Goutieres Syndrome

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome:

41
Brain, Liver, Skin, Testes, Spinal Cord, Eye, Spleen

Publications for Aicardi-Goutieres Syndrome

Articles related to Aicardi-Goutieres Syndrome:

(show all 32)
# Title Authors Year
1
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
2
MRI Features Predictive of Aicardi-Goutieres Syndrome. ( 26933531 )
2015
3
Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? ( 24989684 )
2014
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
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? ( 22940555 )
2013
8
Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction. ( 23364794 )
2013
9
Aicardi-Goutieres syndrome: A genetic disorder which mimics congenital intrauterine infection. ( 23466847 )
2013
10
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome. ( 21862834 )
2012
11
Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. ( 23001123 )
2012
12
Aicardi-Goutieres syndrome: from patients to genes and beyond. ( 22149989 )
2012
13
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands. ( 22882256 )
2012
14
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. ( 21633013 )
2011
15
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. ( 21454563 )
2011
16
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutieres syndrome defects. ( 21177858 )
2011
17
Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase. ( 22069334 )
2011
18
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. ( 21808053 )
2011
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
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi- Goutieres syndrome. ( 20799324 )
2010
21
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. ( 19525956 )
2009
22
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. ( 19034401 )
2009
23
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. ( 19808788 )
2009
24
Aicardi-Goutieres syndrome. ( 19129251 )
2009
25
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. ( 19628626 )
2009
26
Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome. ( 18596240 )
2008
27
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ( 17846997 )
2007
28
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. ( 17357087 )
2007
29
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. ( 16845398 )
2006
30
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi- Goutieres syndrome and mimic congenital viral brain infection. ( 16845400 )
2006
31
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. ( 15908569 )
2006
32
Aicardi-Goutieres syndrome in siblings. ( 11669350 )
2001

Variations for Aicardi-Goutieres Syndrome

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome:

6
(show top 50) (show all 294)
# 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_033629.4(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395
4 TREX1 NM_033629.4(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh38 Chromosome 3, 48466996: 48466996
5 RNASEH2A NM_006397.2(RNASEH2A): c.556C> T (p.Arg186Trp) single nucleotide variant Likely pathogenic rs77103971 GRCh37 Chromosome 19, 12921137: 12921137
6 RNASEH2A NM_006397.2(RNASEH2A): c.556C> T (p.Arg186Trp) single nucleotide variant Likely pathogenic rs77103971 GRCh38 Chromosome 19, 12810323: 12810323
7 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh38 Chromosome 3, 48467567: 48467567
8 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh37 Chromosome 3, 48508966: 48508966
9 RNASEH2C NM_032193.3(RNASEH2C): c.-10A> G single nucleotide variant Likely benign rs77371161 GRCh37 Chromosome 11, 65488239: 65488239
10 RNASEH2C NM_032193.3(RNASEH2C): c.-10A> G single nucleotide variant Likely benign rs77371161 GRCh38 Chromosome 11, 65720768: 65720768
11 RNASEH2B NM_024570.3(RNASEH2B): c.156G> A (p.Leu52=) single nucleotide variant Benign/Likely benign rs35416748 GRCh37 Chromosome 13, 51503630: 51503630
12 RNASEH2B NM_024570.3(RNASEH2B): c.156G> A (p.Leu52=) single nucleotide variant Benign/Likely benign rs35416748 GRCh38 Chromosome 13, 50929494: 50929494
13 RNASEH2A NM_006397.2(RNASEH2A): c.33A> G (p.Thr11=) single nucleotide variant Benign/Likely benign rs11554400 GRCh38 Chromosome 19, 12806706: 12806706
14 RNASEH2A NM_006397.2(RNASEH2A): c.33A> G (p.Thr11=) single nucleotide variant Benign/Likely benign rs11554400 GRCh37 Chromosome 19, 12917520: 12917520
15 RNASEH2A NM_006397.2(RNASEH2A): c.462G> A (p.Gln154=) single nucleotide variant Benign/Likely benign rs7257575 GRCh38 Chromosome 19, 12810121: 12810121
16 RNASEH2A NM_006397.2(RNASEH2A): c.462G> A (p.Gln154=) single nucleotide variant Benign/Likely benign rs7257575 GRCh37 Chromosome 19, 12920935: 12920935
17 RNASEH2A NM_006397.2(RNASEH2A): c.550-11T> C single nucleotide variant Benign/Likely benign rs7247253 GRCh38 Chromosome 19, 12810306: 12810306
18 RNASEH2A NM_006397.2(RNASEH2A): c.550-11T> C single nucleotide variant Benign/Likely benign rs7247253 GRCh37 Chromosome 19, 12921120: 12921120
19 RNASEH2A NM_006397.2(RNASEH2A): c.605T> C (p.Leu202Ser) single nucleotide variant Benign/Likely benign rs7247284 GRCh38 Chromosome 19, 12810372: 12810372
20 RNASEH2A NM_006397.2(RNASEH2A): c.605T> C (p.Leu202Ser) single nucleotide variant Benign/Likely benign rs7247284 GRCh37 Chromosome 19, 12921186: 12921186
21 RNASEH2B NM_024570.3(RNASEH2B): c.925dupA (p.Ile309Asnfs) duplication Benign/Likely benign rs200320729 GRCh37 Chromosome 13, 51530596: 51530596
22 RNASEH2B NM_024570.3(RNASEH2B): c.925dupA (p.Ile309Asnfs) duplication Benign/Likely benign rs200320729 GRCh38 Chromosome 13, 50956460: 50956460
23 RNASEH2B NM_024570.3(RNASEH2B): c.787A> G (p.Thr263Ala) single nucleotide variant Uncertain significance rs150363383 GRCh37 Chromosome 13, 51528086: 51528086
24 RNASEH2B NM_024570.3(RNASEH2B): c.787A> G (p.Thr263Ala) single nucleotide variant Uncertain significance rs150363383 GRCh38 Chromosome 13, 50953950: 50953950
25 TREX1 NM_033629.4(TREX1): c.-515T> C single nucleotide variant Likely benign rs148393533 GRCh38 Chromosome 3, 48465821: 48465821
26 TREX1 NM_033629.4(TREX1): c.-515T> C single nucleotide variant Likely benign rs148393533 GRCh37 Chromosome 3, 48507220: 48507220
27 TREX1 NM_033629.4(TREX1): c.-510delC deletion Likely benign rs886058621 GRCh38 Chromosome 3, 48465826: 48465826
28 TREX1 NM_033629.4(TREX1): c.-510delC deletion Likely benign rs886058621 GRCh37 Chromosome 3, 48507225: 48507225
29 TREX1 NM_033629.4(TREX1): c.-100C> T single nucleotide variant Uncertain significance rs886058623 GRCh38 Chromosome 3, 48466236: 48466236
30 TREX1 NM_033629.4(TREX1): c.-100C> T single nucleotide variant Uncertain significance rs886058623 GRCh37 Chromosome 3, 48507635: 48507635
31 TREX1 NM_033629.4(TREX1): c.-60C> T single nucleotide variant Likely benign rs2279076 GRCh38 Chromosome 3, 48466276: 48466276
32 TREX1 NM_033629.4(TREX1): c.-60C> T single nucleotide variant Likely benign rs2279076 GRCh37 Chromosome 3, 48507675: 48507675
33 TREX1 NM_033629.4(TREX1): c.9G> A (p.Ser3=) single nucleotide variant Uncertain significance rs762687506 GRCh38 Chromosome 3, 48466664: 48466664
34 TREX1 NM_033629.4(TREX1): c.9G> A (p.Ser3=) single nucleotide variant Uncertain significance rs762687506 GRCh37 Chromosome 3, 48508063: 48508063
35 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh38 Chromosome 3, 48466853: 48466853
36 TREX1 NM_033629.4(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 GRCh37 Chromosome 3, 48508252: 48508252
37 TREX1 NM_033629.4(TREX1): c.418A> G (p.Met140Val) single nucleotide variant Uncertain significance rs761526437 GRCh38 Chromosome 3, 48467073: 48467073
38 TREX1 NM_033629.4(TREX1): c.418A> G (p.Met140Val) single nucleotide variant Uncertain significance rs761526437 GRCh37 Chromosome 3, 48508472: 48508472
39 TREX1 NM_033629.4(TREX1): c.-199A> G single nucleotide variant Uncertain significance rs767364235 GRCh38 Chromosome 3, 48466137: 48466137
40 TREX1 NM_033629.4(TREX1): c.-199A> G single nucleotide variant Uncertain significance rs767364235 GRCh37 Chromosome 3, 48507536: 48507536
41 TREX1 NM_033629.4(TREX1): c.-68T> C single nucleotide variant Benign rs3135941 GRCh38 Chromosome 3, 48466268: 48466268
42 TREX1 NM_033629.4(TREX1): c.-68T> C single nucleotide variant Benign rs3135941 GRCh37 Chromosome 3, 48507667: 48507667
43 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh38 Chromosome 3, 48466838: 48466838
44 TREX1 NM_033629.5(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 GRCh37 Chromosome 3, 48508237: 48508237
45 TREX1 NM_033629.4(TREX1): c.312G> C (p.Leu104=) single nucleotide variant Uncertain significance rs56162833 GRCh38 Chromosome 3, 48466967: 48466967
46 TREX1 NM_033629.4(TREX1): c.312G> C (p.Leu104=) single nucleotide variant Uncertain significance rs56162833 GRCh37 Chromosome 3, 48508366: 48508366
47 TREX1 NM_033629.4(TREX1): c.*37T> C single nucleotide variant Benign rs3135946 GRCh38 Chromosome 3, 48467637: 48467637
48 TREX1 NM_033629.4(TREX1): c.*37T> C single nucleotide variant Benign rs3135946 GRCh37 Chromosome 3, 48509036: 48509036
49 TREX1 NM_033629.4(TREX1): c.-127G> C single nucleotide variant Uncertain significance rs577465983 GRCh38 Chromosome 3, 48466209: 48466209
50 TREX1 NM_033629.4(TREX1): c.-127G> C single nucleotide variant Uncertain significance rs577465983 GRCh37 Chromosome 3, 48507608: 48507608

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 KEGG:

37
# Name Kegg Source Accession
1 Cytosolic DNA-sensing pathway hsa04623

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 ATRIP EXO1 KAT5 WRN
2
Show member pathways
12.02 ADAR CGAS IFIH1 TMEM173 TREX1
3
Show member pathways
11.87 CGAS IFIH1 TMEM173 TREX1
4
Show member pathways
11.68 EXO1 KAT5 WRN
5
Show member pathways
11.22 ATRIP EXO1 KAT5 WRN

GO Terms for Aicardi-Goutieres Syndrome

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 IFIH1 ISG20 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 21)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.91 ADAR CGAS EXO1 IFIH1 ISG20 TLR9
2 DNA repair GO:0006281 9.9 ATRIP EXO1 TREX1 WRN
3 innate immune response GO:0045087 9.87 ADAR CGAS IFIH1 ISG20 SAMHD1 TLR9
4 regulation of signal transduction by p53 class mediator GO:1901796 9.8 ATRIP EXO1 KAT5 WRN
5 response to virus GO:0009615 9.74 ADAR IFIH1 ISG20
6 DNA recombination GO:0006310 9.72 EXO1 TREX1 WRN
7 type I interferon signaling pathway GO:0060337 9.7 ADAR ISG20 SAMHD1
8 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.69 EXO1 RNASEH2A RNASEH2B
9 DNA synthesis involved in DNA repair GO:0000731 9.65 EXO1 KAT5 WRN
10 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.65 ATRIP EXO1 RNASEH2A TREX1 WRN
11 mismatch repair GO:0006298 9.63 EXO1 RNASEH2A TREX1
12 strand displacement GO:0000732 9.61 EXO1 KAT5 WRN
13 positive regulation of interferon-beta production GO:0032728 9.59 IFIH1 TLR9
14 positive regulation of defense response to virus by host GO:0002230 9.58 CGAS TMEM173
15 activation of innate immune response GO:0002218 9.58 CGAS TMEM173
16 cellular response to exogenous dsRNA GO:0071360 9.58 CGAS IFIH1 TMEM173
17 regulation of type I interferon production GO:0032479 9.56 TMEM173 TREX1
18 t-circle formation GO:0090656 9.54 EXO1 WRN
19 RNA catabolic process GO:0006401 9.46 ISG20 RNASEH2A RNASEH2B RNASEH2C
20 defense response to virus GO:0051607 9.43 ADAR CGAS IFIH1 ISG20 SAMHD1 TMEM173
21 DNA replication GO:0006260 9.1 ATRIP EXO1 KAT5 RNASEH2A TREX1 WRN

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 9.86 ADAR EXO1 IFIH1 ISG20 RNASEH2A SAMHD1
2 ribonuclease activity GO:0004540 9.4 RNASEH2A SAMHD1
3 3-5 exonuclease activity GO:0008408 9.37 TREX1 WRN
4 nuclease activity GO:0004518 9.35 EXO1 ISG20 RNASEH2A TREX1 WRN
5 RNA-DNA hybrid ribonuclease activity GO:0004523 9.33 EXO1 RNASEH2A RNASEH2B
6 exonuclease activity GO:0004527 9.02 ATRIP EXO1 ISG20 TREX1 WRN
7 metal ion binding GO:0046872 10.06 ADAR CGAS EXO1 GCA IFIH1 ISG20

Sources for Aicardi-Goutieres Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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