MCID: ACR001
MIFTS: 65

Aicardi-Goutieres Syndrome

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

Aliases & Classifications for Aicardi-Goutieres Syndrome

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:



Summaries for Aicardi-Goutieres Syndrome

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 1 and aicardi-goutieres syndrome 3, 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 Abacavir and Zidovudine have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and bone, and related phenotypes are global developmental delay 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

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 4199)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 1 34.9 SHISA5 TREX1
2 aicardi-goutieres syndrome 3 34.8 KAT5 RNASEH2C
3 aicardi-goutieres syndrome 2 34.8 RNASEH2B RNASEH2B-AS1
4 aicardi-goutieres syndrome 5 34.8 SAMHD1 TLDC2
5 aicardi-goutieres syndrome 7 34.7 GCA IFIH1
6 singleton-merten syndrome 32.6 GCA IFIH1
7 familial chilblain lupus 31.1 SAMHD1 TMEM173 TREX1
8 early onset absence epilepsy 31.0 ADAR CHRNB2
9 chilblain lupus 1 30.4 CGAS EXO1 IFIH1 SAMHD1 TMEM173 TREX1
10 aicardi-goutieres syndrome 4 13.0
11 aicardi-goutieres syndrome 6 12.9
12 macular degeneration, age-related, 1 12.6
13 aging 12.4
14 neuropathy, hereditary, with or without age-related macular degeneration 12.4
15 macular degeneration, age-related, 13 12.4
16 macular degeneration, age-related, 2 12.4
17 macular degeneration, age-related, 5 12.4
18 macular degeneration, age-related, 9 12.4
19 macular degeneration, age-related, 7 12.4
20 macular degeneration, age-related, 8 12.4
21 macular degeneration, age-related, 4 12.4
22 macular degeneration, age-related, 12 12.4
23 macular degeneration, age-related, 14 12.4
24 macular degeneration, age-related, 11 12.4
25 macular degeneration, age-related, 6 12.4
26 macular degeneration, age-related, 15 12.4
27 age-related hearing loss 12.4
28 macular degeneration, age-related, 10 12.4
29 premature aging syndrome, penttinen type 12.4
30 age-related hearing impairment 1 12.2
31 age-related hearing impairment 2 12.2
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 cataract, age-related nuclear 12.0
40 creases, infra-auricular cutaneous, with tall stature and advanced bone age 11.9
41 menarche, age at, quantitative trait locus 2 11.9
42 menarche, age at, quantitative trait locus 3 11.9
43 dwarfism lethal type advanced bone age 11.9
44 gigantism advanced bone age hoarse cry 11.9
45 marfanoid habitus-inguinal hernia-advanced bone age syndrome 11.9
46 short stature-advanced bone age-early-onset osteoarthritis syndrome 11.9
47 ceroid lipofuscinosis, neuronal, 1 11.8
48 perniosis 11.8
49 werner syndrome 11.8
50 ceroid lipofuscinosis, neuronal, 2 11.8

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:

60 33 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
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 multifocal cerebral white matter abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0007052
5 porencephalic cyst 33 hallmark (90%) HP:0002132
6 brain atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012444
7 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
8 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
9 cerebral calcification 60 33 frequent (33%) Frequent (79-30%) HP:0002514
10 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
11 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
12 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
13 hemiplegia/hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0004374
14 dry skin 60 33 frequent (33%) Frequent (79-30%) HP:0000958
15 elevated hepatic transaminase 60 33 frequent (33%) Frequent (79-30%) HP:0002910
16 autoimmunity 60 33 frequent (33%) Frequent (79-30%) HP:0002960
17 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
18 ventriculomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002119
19 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
20 hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0002079
21 leukodystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002415
22 hepatosplenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001433
23 large beaked nose 60 33 frequent (33%) Frequent (79-30%) HP:0003683
24 increased csf interferon alpha 60 33 frequent (33%) Frequent (79-30%) HP:0009709
25 increased serum interferon-gamma level 60 33 frequent (33%) Frequent (79-30%) HP:0030356
26 unexplained fevers 60 33 frequent (33%) Frequent (79-30%) HP:0001955
27 loss of speech 60 33 frequent (33%) Frequent (79-30%) HP:0002371
28 extrapyramidal muscular rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0007076
29 muscular hypotonia of the trunk 60 33 frequent (33%) Frequent (79-30%) HP:0008936
30 chronic csf lymphocytosis 60 33 frequent (33%) Frequent (79-30%) HP:0009704
31 eyelid coloboma 33 frequent (33%) HP:0000625
32 chilblains 33 frequent (33%) HP:0009710
33 low-set ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000369
34 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
35 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
36 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
37 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
38 tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0001337
39 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
40 abnormal pyramidal sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0007256
41 arthritis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001369
42 acrocyanosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001063
43 cardiomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001640
44 spastic tetraplegia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002510
45 multiple joint contractures 60 33 occasional (7.5%) Occasional (29-5%) HP:0002828
46 muscle stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0003552
47 headache 60 33 occasional (7.5%) Occasional (29-5%) HP:0002315
48 hoarse voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001609
49 plagiocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001357
50 prolonged neonatal jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0006579

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

Drugs & Therapeutics for Aicardi-Goutieres Syndrome

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reverse Transcriptase Inhibitors in AGS Completed NCT02363452 Phase 2 Reverse transcriptase inhibitors: Zidovudine, Lamivudine, Abacavir
2 Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome Active, not recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)
3 JAK Inhibitor Treatment in AGS Not yet recruiting NCT03921554 Phase 2 Baricitinib
4 Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes No longer 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 30

Anatomical Context for Aicardi-Goutieres Syndrome

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome:

42
Brain, Skin, Bone, Liver, Heart, Breast, Kidney

Publications for Aicardi-Goutieres Syndrome

Articles related to Aicardi-Goutieres Syndrome:

(show top 50) (show all 172)
# Title Authors Year
1
Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi-Goutières Syndrome, a Type I Interferonopathy. ( 30666809 )
2019
2
Prenatal presentation of Aicardi-Goutières syndrome: Nonspecific 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
Neuropathological Findings in a Case of IFIH1-Related Aicardi-Goutières Syndrome. ( 30952201 )
2019
9
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. ( 30965144 )
2019
10
Genome instability consequences of RNase H2 Aicardi-Goutières syndrome alleles. ( 30975634 )
2019
11
Autoinflammatory phenotypes in Aicardi-Goutières syndrome with interferon upregulation and serological autoimmune features. ( 29132962 )
2018
12
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome. ( 29150899 )
2018
13
Aicardi-Goutières syndrome with muscle involvement in early infancy. ( 29210089 )
2018
14
Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene. ( 29221912 )
2018
15
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients. ( 29239743 )
2018
16
Aicardi-Goutières syndrome: cold-induced acral blemish is not always cryoglobulinaemic vasculitis or chilblain lupus. ( 29341198 )
2018
17
Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center. ( 29703882 )
2018
18
Astrocytes, an active player in Aicardi-Goutières syndrome. ( 29740948 )
2018
19
Aicardi-Goutières Syndrome: Brief Case Report. ( 29899779 )
2018
20
RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition. ( 29959219 )
2018
21
Aicardi goutières syndrome is associated with pulmonary hypertension. ( 30219631 )
2018
22
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. ( 30275001 )
2018
23
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome ( 30566312 )
2018
24
Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis. ( 30593198 )
2018
25
Effects of Aicardi-Goutières syndrome mutations predicted from ADAR-RNA structures. ( 27937139 )
2017
26
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. ( 28089741 )
2017
27
A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans. ( 28229507 )
2017
28
Aicardi-Goutières syndrome: unusual neuro-radiological manifestations. ( 28332073 )
2017
29
Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion. ( 28334850 )
2017
30
Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome. ( 28387595 )
2017
31
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots. ( 28739201 )
2017
32
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? ( 28762473 )
2017
33
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome. ( 26581299 )
2016
34
Neuroimaging in Aicardi-Goutières syndrome: Biomarkers for a progressive encephalopathy. ( 26581303 )
2016
35
Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations. ( 26802932 )
2016
36
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report. ( 26833990 )
2016
37
RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice. ( 26880576 )
2016
38
Aicardi-Goutières Syndrome. ( 27086608 )
2016
39
Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome. ( 27091087 )
2016
40
SAMHD1, the Aicardi-Goutières syndrome gene and retroviral restriction factor, is a phosphorolytic ribonuclease rather than a hydrolytic ribonuclease. ( 27387229 )
2016
41
Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome. ( 27539236 )
2016
42
The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome. ( 27604406 )
2016
43
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. ( 27643693 )
2016
44
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies. ( 24906636 )
2015
45
A possible genotype-phenotype correlation in Ashkenazi-Jewish individuals with Aicardi-Goutières syndrome associated with SAMHD1 mutation. ( 25246298 )
2015
46
Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability. ( 25274781 )
2015
47
Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. ( 25535058 )
2015
48
Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy. ( 25542954 )
2015
49
Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome. ( 25672750 )
2015
50
Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release. ( 25769924 )
2015

Variations for Aicardi-Goutieres Syndrome

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_033629.2(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395
4 TREX1 NM_033629.2(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

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:

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
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 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 DNA repair GO:0006281 9.83 ATRIP EXO1 SAMHD1 TREX1 WRN
4 immune system process GO:0002376 9.8 ADAR CGAS IFIH1 SAMHD1 TMEM173
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 for Aicardi-Goutieres Syndrome

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
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