MCID: ACR001
MIFTS: 57

Aicardi-Goutieres Syndrome

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

Aliases & Classifications for Aicardi-Goutieres Syndrome

MalaCards integrated aliases for Aicardi-Goutieres Syndrome:

Name: Aicardi-Goutieres Syndrome 12 49 24 36 14 69 23 24 55
Encephalopathy with Basal Ganglia Calcification 49 24 55
Aicardi Goutieres Syndrome 49 24 28
Cree Encephalitis 12 49 24
Encephalopathy with Intracranial Calcification and Chronic Lymphocytosis of Cerebrospinal Fluid 49 55
Pseudotoxoplasmosis Syndrome 49 24
Ags 49 24
Encephalopathy, Familial Infantile, with Calcification of Basal Ganglia and Chronic Cerebrospinal Fluid Lymphocytosis 49
Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 24
Aicardi-Goutieres Syndrome Disorder 50
Aicardi-Goutieres Syndrome 1 69

Characteristics:

Orphanet epidemiological data:

55
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 32 G31.8
Orphanet 55 ORPHA51
MESH via Orphanet 42 C535607
UMLS via Orphanet 70 C0393591
ICD10 via Orphanet 33 G31.8
KEGG 36 H00290

Summaries for Aicardi-Goutieres Syndrome

NINDS : 50 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 encephalopathy with basal ganglia calcification, is related to familial chilblain lupus and chilblain lupus 1, and has symptoms including microcephaly, ptosis and seizures. 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 Innate Immune System. 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 Increased viability with MLN4924 (a NAE inhibitor) and cellular

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 : 49 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. Last updated: 12/26/2017

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 64)
# Related Disease Score Top Affiliating Genes
1 familial chilblain lupus 30.7 SAMHD1 TMEM173 TREX1
2 chilblain lupus 1 29.9 CGAS EXO1 IFIH1 SAMHD1 TMEM173 TREX1
3 aicardi-goutieres syndrome 1 12.7
4 aicardi-goutieres syndrome 3 12.7
5 aicardi-goutieres syndrome 2 12.7
6 aicardi-goutieres syndrome 4 12.7
7 aicardi-goutieres syndrome 5 12.7
8 aicardi-goutieres syndrome 6 12.6
9 aicardi-goutieres syndrome 7 12.6
10 macular degeneration, age-related, 1 12.4
11 aging 12.3
12 macular degeneration, age-related, 10 12.2
13 age-related hearing loss 12.1
14 premature aging syndrome, penttinen type 12.1
15 neuropathy, hereditary, with or without age-related macular degeneration 12.1
16 macular degeneration, age-related, 5 12.1
17 macular degeneration, age-related, 13 12.1
18 macular degeneration, age-related, 2 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 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 11.9
31 menarche, age at, quantitative trait locus 1 11.9
32 menopause, natural, age at, quantitative trait locus 1 11.8
33 premature aging syndrome, okamoto type 11.8
34 menopause, natural, age at, quantitative trait locus 2 11.8
35 menopause, natural, age at, quantitative trait locus 4 11.8
36 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 11.8
37 cataract, age-related nuclear 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:

55 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
2 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
3 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
4 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
5 plagiocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001357
6 arrhinencephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002139
7 intellectual disability, profound 55 31 hallmark (90%) Very frequent (99-80%) HP:0002187
8 hemiplegia/hemiparesis 55 31 frequent (33%) Frequent (79-30%) HP:0004374
9 cleft eyelid 55 Frequent (79-30%)
10 hypertonia 55 Very frequent (99-80%)
11 porencephaly 55 Very frequent (99-80%)
12 eyelid coloboma 31 frequent (33%) HP:0000625
13 porencephalic cyst 31 hallmark (90%) HP:0002132

UMLS symptoms related to Aicardi-Goutieres Syndrome:


petechiae of skin, seizures

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 EXO1 RNASEH2A RNASEH2B RNASEH2C TREX1 WRN

MGI Mouse Phenotypes related to Aicardi-Goutieres Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 ADAR DCAF1 EXO1 IFIH1 MGA RNASEH2B
2 hematopoietic system MP:0005397 9.93 ADAR CGAS EXO1 IFIH1 ISG20 RNASEH2B
3 immune system MP:0005387 9.77 SAMHD1 TLR9 TMEM173 TREX1 USP18 WRN
4 mortality/aging MP:0010768 9.47 TREX1 USP18 WRN ADAR CGAS DCAF1

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 441300 65140
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 28

Anatomical Context for Aicardi-Goutieres Syndrome

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome:

38
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
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? ( 22940555 )
2013
7
Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction. ( 23364794 )
2013
8
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. ( 22829693 )
2013
9
Aicardi-Goutieres syndrome: A genetic disorder which mimics congenital intrauterine infection. ( 23466847 )
2013
10
Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. ( 23001123 )
2012
11
Aicardi-Goutieres syndrome: from patients to genes and beyond. ( 22149989 )
2012
12
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands. ( 22882256 )
2012
13
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome. ( 21862834 )
2012
14
Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase. ( 22069334 )
2011
15
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. ( 21808053 )
2011
16
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. ( 21454563 )
2011
17
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. ( 21633013 )
2011
18
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutieres syndrome defects. ( 21177858 )
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
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. ( 19808788 )
2009
22
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. ( 19628626 )
2009
23
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. ( 19034401 )
2009
24
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. ( 19525956 )
2009
25
Aicardi-Goutieres syndrome. ( 19129251 )
2009
26
Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome. ( 18596240 )
2008
27
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. ( 17357087 )
2007
28
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ( 17846997 )
2007
29
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. ( 16845398 )
2006
30
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. ( 15908569 )
2006
31
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi- Goutieres syndrome and mimic congenital viral brain infection. ( 16845400 )
2006
32
Aicardi-Goutieres syndrome in siblings. ( 11669350 )
2001

Variations for Aicardi-Goutieres Syndrome

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome:

6
# 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 KEGG:

36
# 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
13.33 ADA2 ADAR CGAS DCAF1 IFIH1 ISG20
2
Show member pathways
12.19 ADAR CGAS IFIH1 TMEM173 TREX1
3
Show member pathways
12.11 ADAR ISG20 SAMHD1 USP18
4
Show member pathways
11.97 CGAS IFIH1 TMEM173 TREX1
5
Show member pathways
11.13 ADAR 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:

# 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 19)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.87 ADAR CGAS IFIH1 ISG20 SAMHD1 TLR9
2 immune system process GO:0002376 9.8 ADAR CGAS EXO1 IFIH1 ISG20 TLR9
3 DNA replication GO:0006260 9.78 EXO1 RNASEH2A TREX1 WRN
4 response to virus GO:0009615 9.72 ADAR IFIH1 ISG20
5 DNA recombination GO:0006310 9.71 EXO1 TREX1 WRN
6 type I interferon signaling pathway GO:0060337 9.67 ADAR ISG20 SAMHD1
7 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.67 EXO1 RNASEH2A RNASEH2B RNASET2
8 RNA phosphodiester bond hydrolysis GO:0090501 9.63 RNASEH2A RNASET2 SAMHD1
9 mismatch repair GO:0006298 9.61 EXO1 RNASEH2A TREX1
10 strand displacement GO:0000732 9.58 EXO1 WRN
11 positive regulation of defense response to virus by host GO:0002230 9.58 CGAS TMEM173
12 cellular response to exogenous dsRNA GO:0071360 9.58 CGAS IFIH1 TMEM173
13 positive regulation of interferon-beta production GO:0032728 9.57 IFIH1 TLR9
14 activation of innate immune response GO:0002218 9.56 CGAS TMEM173
15 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.55 EXO1 RNASEH2A RNASET2 TREX1 WRN
16 regulation of type I interferon production GO:0032479 9.52 TMEM173 TREX1
17 t-circle formation GO:0090656 9.51 EXO1 WRN
18 defense response to virus GO:0051607 9.43 ADAR CGAS IFIH1 ISG20 SAMHD1 TMEM173
19 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:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 ADA2 ADAR EXO1 IFIH1 ISG20 RNASEH2A
2 endonuclease activity GO:0004519 9.58 EXO1 RNASEH2A RNASET2
3 ribonuclease activity GO:0004540 9.5 RNASEH2A RNASET2 SAMHD1
4 exonuclease activity GO:0004527 9.46 EXO1 ISG20 TREX1 WRN
5 3-5 exonuclease activity GO:0008408 9.43 TREX1 WRN
6 RNA-DNA hybrid ribonuclease activity GO:0004523 9.43 EXO1 RNASEH2A RNASEH2B
7 adenosine deaminase activity GO:0004000 9.37 ADA2 ADAR
8 nuclease activity GO:0004518 9.1 EXO1 ISG20 RNASEH2A RNASET2 TREX1 WRN

Sources for Aicardi-Goutieres Syndrome

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