AGS
MCID: ACR001
MIFTS: 63

Aicardi-Goutieres Syndrome (AGS)

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

Aliases & Classifications for Aicardi-Goutieres Syndrome

MalaCards integrated aliases for Aicardi-Goutieres Syndrome:

Name: Aicardi-Goutieres Syndrome 12 75 53 25 54 59 37 15 40 72
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
Aicardi-Goutières Syndrome 24 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 72

Characteristics:

Orphanet epidemiological data:

59
aicardi-goutieres 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
KEGG 37 H00290
ICD10 33 G31.8
MESH via Orphanet 45 C535607
ICD10 via Orphanet 34 G31.8
UMLS via Orphanet 73 C0393591
Orphanet 59 ORPHA51
UMLS 72 C0393591 C0796126

Summaries for Aicardi-Goutieres Syndrome

Genetics Home Reference : 25 Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin. Most newborns with Aicardi-Goutières syndrome do not show any signs or symptoms of the disorder. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, a shortage of blood cell fragments called platelets that are needed for normal blood clotting (thrombocytopenia), and neurological abnormalities. While this combination of signs and symptoms is typically associated with the immune system's response to a viral infection that is present at birth (congenital), no actual infection is found in these infants. For this reason, Aicardi-Goutières syndrome is sometimes referred to as a "mimic of congenital infection." Within the first year of life, most individuals with Aicardi-Goutières syndrome experience an episode of severe brain dysfunction (encephalopathy), typically lasting for several months. During this encephalopathic phase of the disorder, affected babies are usually extremely irritable and do not feed well. They may develop intermittent fevers in the absence of infection (sterile pyrexias) and may have seizures. They stop developing new skills and begin losing skills they had already acquired (developmental regression). Growth of the brain and skull slows down, resulting in an abnormally small head size (microcephaly). In this phase of the disorder, white blood cells and other immune system molecules associated with inflammation can be detected in the cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). These abnormal findings are consistent with inflammation and tissue damage in the central nervous system. The encephalopathic phase of Aicardi-Goutières syndrome causes permanent neurological damage that is usually severe. Medical imaging reveals loss of white matter in the brain (leukodystrophy). White matter consists of nerve fibers covered by myelin, which is a substance that protects nerves and insures rapid transmission of nerve impulses. Affected individuals also have abnormal deposits of calcium (calcification) in the brain. As a result of this neurological damage, most people with Aicardi-Goutières syndrome have profound intellectual disability. They also have muscle stiffness (spasticity); involuntary tensing of various muscles (dystonia), especially those in the arms; and weak muscle tone (hypotonia) in the torso. Some people with Aicardi-Goutières syndrome have features characteristic of autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own systems and organs. Some of these features overlap with those of another disorder called systemic lupus erythematosus (SLE). A feature of SLE that also occurs in about 40 percent of people with Aicardi-Goutières syndrome is a skin problem called chilblains. Chilblains are painful, itchy skin lesions that are puffy and red, and usually appear on the fingers, toes, and ears. They are caused by inflammation of small blood vessels, and may be brought on or made worse by exposure to cold. Vision problems, joint stiffness, and mouth ulcers are other features that can occur in both disorders. As a result of the severe neurological problems usually associated with Aicardi-Goutières syndrome, most people with this disorder do not survive past childhood. However, some affected individuals who develop the condition later or have milder neurological problems live into adulthood.

MalaCards based summary : Aicardi-Goutieres Syndrome, also known as aicardi goutieres syndrome, is related to aicardi-goutieres syndrome 1 and aicardi-goutieres syndrome 2, 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 Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skin, 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 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.

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).

KEGG : 37
Aicardi-Goutieres Syndrome (AGS) is an autosomal recessive encephalopathy characterized by basal ganglia and white matter calcification in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised level of cerebrospinal fluid IFNalpha. There is progressive neurological dysfunction resulting in a failure of development of expected physical and social skills. AGS presents in infancy and is lethal in ~40% of cases. It can be caused by mutations in the following genes, TREX1, RNaseH2 and SAMHD1 that lead to excessive intracellular accumulation of DNA and abnormal type I IFN metabolism.

Wikipedia : 75 Aicardi-Goutieres 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 5815)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 1 35.3 TREX1 SHISA5
2 aicardi-goutieres syndrome 2 35.3 RNASEH2B-AS1 RNASEH2B
3 aicardi-goutieres syndrome 5 35.3 TLDC2 SAMHD1
4 aicardi-goutieres syndrome 7 35.2 IFIH1 GCA
5 aicardi-goutieres syndrome 3 35.2 RNASEH2C KAT5
6 singleton-merten syndrome 33.0 IFIH1 GCA
7 familial chilblain lupus 31.6 TREX1 TMEM173 SAMHD1
8 vasculopathy, retinal, with cerebral leukodystrophy 31.5 TREX1 SHISA5 ATRIP
9 early onset absence epilepsy 31.2 CHRNB2 ADAR
10 chilblain lupus 1 30.5 TREX1 TMEM173 SAMHD1 IFIH1 EXO1 CGAS
11 aicardi-goutieres syndrome 4 13.1
12 aicardi-goutieres syndrome 6 13.0
13 macular degeneration, age-related, 1 12.8
14 aging 12.6
15 macular degeneration, age-related, 13 12.5
16 macular degeneration, age-related, 7 12.5
17 neuropathy, hereditary, with or without age-related macular degeneration 12.5
18 macular degeneration, age-related, 2 12.5
19 macular degeneration, age-related, 5 12.5
20 macular degeneration, age-related, 9 12.5
21 macular degeneration, age-related, 8 12.5
22 age-related hearing loss 12.5
23 macular degeneration, age-related, 4 12.5
24 macular degeneration, age-related, 12 12.5
25 macular degeneration, age-related, 14 12.5
26 macular degeneration, age-related, 6 12.5
27 macular degeneration, age-related, 11 12.5
28 macular degeneration, age-related, 15 12.5
29 macular degeneration, age-related, 10 12.5
30 premature aging syndrome, penttinen type 12.5
31 age-related hearing impairment 1 12.4
32 age-related hearing impairment 2 12.4
33 premature aging 12.3
34 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.3
35 menarche, age at, quantitative trait locus 1 12.3
36 menopause, natural, age at, quantitative trait locus 1 12.3
37 menopause, natural, age at, quantitative trait locus 2 12.3
38 menopause, natural, age at, quantitative trait locus 4 12.3
39 premature aging syndrome, okamoto type 12.3
40 cataract, age-related nuclear 12.2
41 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 12.2
42 menarche, age at, quantitative trait locus 2 12.2
43 menarche, age at, quantitative trait locus 3 12.2
44 creases, infra-auricular cutaneous, with tall stature and advanced bone age 12.2
45 dwarfism lethal type advanced bone age 12.0
46 gigantism advanced bone age hoarse cry 12.0
47 marfanoid habitus-inguinal hernia-advanced bone age syndrome 12.0
48 laminopathy with premature aging 12.0
49 obsolete: disease predisposing to age-related macular degeneration 12.0
50 cataract 28 12.0

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



Diseases related to Aicardi-Goutieres Syndrome

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome

Human phenotypes related to Aicardi-Goutieres Syndrome:

59 32 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
2 arrhinencephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002139
3 intellectual disability, profound 59 32 hallmark (90%) Very frequent (99-80%) HP:0002187
4 multifocal cerebral white matter abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0007052
5 porencephalic cyst 32 hallmark (90%) HP:0002132
6 brain atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0012444
7 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
8 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
9 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
10 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
11 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
12 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
13 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
14 hemiplegia/hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0004374
15 autoimmunity 59 32 frequent (33%) Frequent (79-30%) HP:0002960
16 elevated hepatic transaminase 59 32 frequent (33%) Frequent (79-30%) HP:0002910
17 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
18 ventriculomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002119
19 difficulty walking 59 32 frequent (33%) Frequent (79-30%) HP:0002355
20 hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0002079
21 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
22 hepatosplenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001433
23 loss of speech 59 32 frequent (33%) Frequent (79-30%) HP:0002371
24 large beaked nose 59 32 frequent (33%) Frequent (79-30%) HP:0003683
25 increased csf interferon alpha 59 32 frequent (33%) Frequent (79-30%) HP:0009709
26 increased serum interferon-gamma level 59 32 frequent (33%) Frequent (79-30%) HP:0030356
27 unexplained fevers 59 32 frequent (33%) Frequent (79-30%) HP:0001955
28 extrapyramidal muscular rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0007076
29 muscular hypotonia of the trunk 59 32 frequent (33%) Frequent (79-30%) HP:0008936
30 chronic csf lymphocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0009704
31 eyelid coloboma 32 frequent (33%) HP:0000625
32 chilblains 32 frequent (33%) HP:0009710
33 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
34 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
35 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
36 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
37 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
38 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
39 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
40 abnormal pyramidal sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
41 arthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001369
42 acrocyanosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001063
43 cardiomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001640
44 spastic tetraplegia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002510
45 multiple joint contractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002828
46 muscle stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003552
47 micropenis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000054
48 headache 59 32 occasional (7.5%) Occasional (29-5%) HP:0002315
49 hoarse voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001609
50 plagiocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001357

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 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 65140 441300
2
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
3
Zidovudine Approved Phase 2 30516-87-1 35370
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 Experimental, Investigational Phase 1, Phase 2 147127-20-6 464205
7 Pharmaceutical Solutions Phase 2
8 Antimetabolites Phase 2
9 Protein Kinase Inhibitors Phase 2
10 Janus Kinase Inhibitors Phase 2
11 Anti-Infective Agents Phase 1, Phase 2
12 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2
13 Reverse Transcriptase Inhibitors Phase 1, Phase 2
14 Anti-HIV Agents Phase 1, Phase 2
15 interferons Phase 1, Phase 2
16 Antiviral Agents Phase 1, Phase 2
17 Anti-Retroviral Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Clinical Trial of Reverse Transcriptase Inhibitors in Children With Aicardi-Goutières Syndrome (AGS) Completed NCT02363452 Phase 2 Reverse transcriptase inhibitors: Zidovudine, Lamivudine, Abacavir
2 Janus Kinase Inhibitor (Baricitinib) for Aicardi Goutières Syndrome Recruiting NCT03921554 Phase 2 Baricitinib
3 Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome Active, not recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)

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, Spleen, Spinal Cord, Eye, Testes

Publications for Aicardi-Goutieres Syndrome

Articles related to Aicardi-Goutieres Syndrome:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 38 4 71
25604658 2015
2
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 38 4 71
17846997 2007
3
Genetic syndromes mimic congenital infections. 38 4 71
15870678 2005
4
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 4 71
25243380 2014
5
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 4 71
24686847 2014
6
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 4 71
24262145 2014
7
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 4 71
23001123 2012
8
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. 4 71
21204240 2011
9
Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. 4 71
20358604 2010
10
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. 4 71
19525956 2009
11
Dyschromatosis symmetrica hereditaria associated with neurological disorders. 4 71
19017046 2008
12
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 4 71
17660818 2007
13
Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation. 4 71
16817193 2006
14
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 4 71
16845400 2006
15
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 4 71
16845398 2006
16
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. 38 71
21454563 2011
17
Aicardi goutières syndrome is associated with pulmonary hypertension. 71
30219631 2018
18
Aicardi-Goutières syndrome is caused by IFIH1 mutations. 71
24995871 2014
19
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. 38 4
22829693 2013
20
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. 71
23322642 2013
21
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. 38 4
21633013 2011
22
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. 71
21102625 2011
23
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. 38 4
19628626 2009
24
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. 38 4
19808788 2009
25
Trex1 prevents cell-intrinsic initiation of autoimmunity. 38 4
18724932 2008
26
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 38 4
17357087 2007
27
Aicardi-Goutières Syndrome 71
20301648 2005
28
Human disease phenotypes associated with mutations in TREX1. 4
25731743 2015
29
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. 4
24407470 2014
30
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). 4
24376015 2014
31
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. 4
24300241 2014
32
Therapies in Aicardi-Goutières syndrome. 4
23607857 2014
33
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 4
24183309 2013
34
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. 4
23592335 2013
35
Recognizable phenotypes associated with intracranial calcification. 4
23121296 2013
36
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 4
22267198 2012
37
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. 4
22056990 2011
38
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. 4
21402907 2011
39
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. 4
20842748 2010
40
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 4
20799324 2010
41
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 4
20727516 2010
42
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. 4
20653736 2010
43
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 4
20131292 2010
44
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. 4
19012351 2008
45
Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. 4
18925673 2008
46
Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. 4
18045533 2007
47
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 4
17660820 2007
48
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 4
17440703 2007
49
Cerebroretinal microangiopathy with calcifications and cysts. 4
16943371 2006
50
Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome. 4
16354995 2006

Variations for Aicardi-Goutieres Syndrome

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome:

6 (show top 50) (show all 149)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RNASEH2B NM_024570.3(RNASEH2B): c.529G> A (p.Ala177Thr) single nucleotide variant Pathogenic/Likely pathogenic rs75184679 13:51519581-51519581 13:50945445-50945445
2 RNASEH2A NM_006397.2(RNASEH2A): c.556C> T (p.Arg186Trp) single nucleotide variant Likely pathogenic rs77103971 19:12921137-12921137 19:12810323-12810323
3 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 20:35526858-35526858 20:36898455-36898455
4 RNASEH2A NM_006397.2(RNASEH2A): c.662A> G (p.Lys221Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143534021 19:12923921-12923921 19:12813107-12813107
5 TREX1 NM_033629.6(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 3:48508851-48508851 3:48467452-48467452
6 ADAR NM_001111.5(ADAR): c.577C> G (p.Pro193Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145588689 1:154574541-154574541 1:154602065-154602065
7 RNASEH2C NM_032193.3(RNASEH2C): c.468+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs182000627 11:65487503-65487503 11:65720032-65720032
8 RNASEH2C NM_032193.3(RNASEH2C): c.417C> G (p.Gly139=) single nucleotide variant Conflicting interpretations of pathogenicity rs147021687 11:65487567-65487567 11:65720096-65720096
9 RNASEH2C NM_032193.3(RNASEH2C): c.61T> C (p.Leu21=) single nucleotide variant Conflicting interpretations of pathogenicity rs376140250 11:65488169-65488169 11:65720698-65720698
10 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147240777 20:35579970-35579970 20:36951567-36951567
11 RNASEH2B NM_024570.3(RNASEH2B): c.455A> G (p.Asn152Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146451037 13:51517475-51517475 13:50943339-50943339
12 RNASEH2B NM_024570.3(RNASEH2B): c.699-11A> G single nucleotide variant Uncertain significance rs886050290 13:51523588-51523588 13:50949452-50949452
13 SAMHD1 NM_015474.3(SAMHD1): c.*711A> C single nucleotide variant Uncertain significance rs886056644 20:35520624-35520624 20:36892221-36892221
14 SAMHD1 NM_015474.3(SAMHD1): c.*240G> A single nucleotide variant Uncertain significance rs143588093 20:35521095-35521095 20:36892692-36892692
15 SAMHD1 NM_015474.3(SAMHD1): c.1037A> C (p.Glu346Ala) single nucleotide variant Uncertain significance rs886056648 20:35545150-35545150 20:36916747-36916747
16 RNASEH2A NM_006397.2(RNASEH2A): c.568G> A (p.Val190Met) single nucleotide variant Uncertain significance rs370225385 19:12921149-12921149 19:12810335-12810335
17 SAMHD1 NM_015474.3(SAMHD1): c.67T> A (p.Ser23Thr) single nucleotide variant Uncertain significance rs886056649 20:35579980-35579980 20:36951577-36951577
18 RNASEH2B NM_024570.3(RNASEH2B): c.-313C> G single nucleotide variant Uncertain significance rs886050287 13:51483900-51483900 13:50909764-50909764
19 RNASEH2B NM_001142279.2(RNASEH2B): c.741+7032G> T single nucleotide variant Uncertain significance rs751735556 13:51530673-51530673 13:50956537-50956537
20 RNASEH2A NM_006397.2(RNASEH2A): c.762-13C> G single nucleotide variant Uncertain significance rs781591228 19:12924129-12924129 19:12813315-12813315
21 RNASEH2A NM_006397.2(RNASEH2A): c.*16G> T single nucleotide variant Uncertain significance rs199696470 19:12924296-12924296 19:12813482-12813482
22 RNASEH2C NM_032193.3(RNASEH2C): c.348+6C> T single nucleotide variant Uncertain significance rs779293116 11:65487707-65487707 11:65720236-65720236
23 RNASEH2C NM_182710.3(KAT5): c.1265-784G> A single nucleotide variant Uncertain significance rs886048482 11:65485277-65485277 11:65717806-65717806
24 RNASEH2C NM_182710.3(KAT5): c.1265-544G> A single nucleotide variant Uncertain significance rs886048487 11:65485517-65485517 11:65718046-65718046
25 RNASEH2C NM_032193.3(RNASEH2C): c.268A> G (p.Lys90Glu) single nucleotide variant Uncertain significance rs200659526 11:65487793-65487793 11:65720322-65720322
26 RNASEH2C NM_032193.3(RNASEH2C): c.173-14G> A single nucleotide variant Uncertain significance rs886048502 11:65487902-65487902 11:65720431-65720431
27 RNASEH2B NM_024570.3(RNASEH2B): c.-399C> G single nucleotide variant Uncertain significance rs553965425 13:51483814-51483814 13:50909678-50909678
28 TREX1 NM_033629.6(TREX1): c.-50_-47CTGC[4] short repeat Uncertain significance rs371036312 3:48507701-48507704 3:48466302-48466305
29 RNASEH2C NM_182710.3(KAT5): c.1265-585G> C single nucleotide variant Uncertain significance rs886048485 11:65485476-65485476 11:65718005-65718005
30 RNASEH2C NM_182710.3(KAT5): c.1265-613C> T single nucleotide variant Uncertain significance rs886048484 11:65485448-65485448 11:65717977-65717977
31 RNASEH2C NM_182710.3(KAT5): c.1425-30T> C single nucleotide variant Uncertain significance rs767097041 11:65486314-65486314 11:65718843-65718843
32 RNASEH2C NM_182710.3(KAT5): c.1473T> G (p.Thr491=) single nucleotide variant Uncertain significance rs886048491 11:65486392-65486392 11:65718921-65718921
33 RNASEH2C NM_182710.3(KAT5): c.1507-11C> T single nucleotide variant Uncertain significance rs201326733 11:65486507-65486507 11:65719036-65719036
34 RNASEH2C NM_032193.3(RNASEH2C): c.*542G> A single nucleotide variant Uncertain significance rs186106053 11:65486712-65486712 11:65719241-65719241
35 RNASEH2C NM_032193.3(RNASEH2C): c.*541C> T single nucleotide variant Uncertain significance rs756513194 11:65486713-65486713 11:65719242-65719242
36 RNASEH2C NM_032193.3(RNASEH2C): c.*385C> A single nucleotide variant Uncertain significance rs757672652 11:65486869-65486869 11:65719398-65719398
37 RNASEH2C NM_032193.3(RNASEH2C): c.*363C> T single nucleotide variant Uncertain significance rs547082810 11:65486891-65486891 11:65719420-65719420
38 RNASEH2C NM_032193.3(RNASEH2C): c.468+8G> A single nucleotide variant Uncertain significance rs751767695 11:65487508-65487508 11:65720037-65720037
39 RNASEH2C NM_032193.3(RNASEH2C): c.173-4C> G single nucleotide variant Uncertain significance rs886048501 11:65487892-65487892 11:65720421-65720421
40 RNASEH2C NM_032193.3(RNASEH2C): c.-89C> G single nucleotide variant Uncertain significance rs886048503 11:65488318-65488318 11:65720847-65720847
41 RNASEH2C NM_032193.3(RNASEH2C): c.-27G> T single nucleotide variant Uncertain significance rs549471118 11:65488256-65488256 11:65720785-65720785
42 RNASEH2C NM_032193.3(RNASEH2C): c.468+5G> C single nucleotide variant Uncertain significance rs753880827 11:65487511-65487511 11:65720040-65720040
43 RNASEH2C NM_032193.3(RNASEH2C): c.*27C> G single nucleotide variant Uncertain significance rs886048500 11:65487227-65487227 11:65719756-65719756
44 RNASEH2C NM_182710.3(KAT5): c.1265-638C> T single nucleotide variant Uncertain significance rs886048483 11:65485423-65485423 11:65717952-65717952
45 RNASEH2C NM_182710.3(KAT5): c.1265-575G> A single nucleotide variant Uncertain significance rs886048486 11:65485486-65485486 11:65718015-65718015
46 RNASEH2C NM_182710.3(KAT5): c.1265-401C> T single nucleotide variant Uncertain significance rs761492773 11:65485660-65485660 11:65718189-65718189
47 RNASEH2C NM_182710.3(KAT5): c.1265-24C> G single nucleotide variant Uncertain significance rs886048490 11:65486037-65486037 11:65718566-65718566
48 RNASEH2C NM_032193.3(RNASEH2C): c.*440G> C single nucleotide variant Uncertain significance rs544558074 11:65486814-65486814 11:65719343-65719343
49 RNASEH2C NM_032193.3(RNASEH2C): c.-157C> A single nucleotide variant Uncertain significance rs535406222 11:65488386-65488386 11:65720915-65720915
50 RNASEH2C NM_182710.3(KAT5): c.1524A> C (p.Thr508=) single nucleotide variant Uncertain significance rs886048492 11:65486535-65486535 11:65719064-65719064

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
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 WRN KAT5 EXO1 ATRIP
2
Show member pathways
12.02 TREX1 TMEM173 IFIH1 CGAS ADAR
3
Show member pathways
11.87 TREX1 TMEM173 IFIH1 CGAS
4
Show member pathways
11.22 WRN KAT5 EXO1 ATRIP

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 RNASEH2C RNASEH2B RNASEH2A

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 TMEM173 SAMHD1 IFIH1 CGAS ADAR
2 cellular response to DNA damage stimulus GO:0006974 9.89 WRN SAMHD1 EXO1 CGAS ATRIP
3 DNA repair GO:0006281 9.83 WRN TREX1 SAMHD1 EXO1 ATRIP
4 immune system process GO:0002376 9.8 TMEM173 SAMHD1 IFIH1 CGAS ADAR
5 DNA recombination GO:0006310 9.72 WRN TREX1 EXO1
6 defense response to virus GO:0051607 9.65 TMEM173 SAMHD1 IFIH1 CGAS ADAR
7 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.63 RNASEH2B RNASEH2A EXO1
8 positive regulation of defense response to virus by host GO:0002230 9.58 TMEM173 CGAS
9 activation of innate immune response GO:0002218 9.58 TMEM173 CGAS
10 cellular response to interferon-beta GO:0035458 9.57 TREX1 TMEM173
11 somatic hypermutation of immunoglobulin genes GO:0016446 9.56 SAMHD1 EXO1
12 mismatch repair GO:0006298 9.54 TREX1 RNASEH2A EXO1
13 t-circle formation GO:0090656 9.52 WRN EXO1
14 regulation of type I interferon production GO:0032479 9.51 TREX1 TMEM173
15 RNA catabolic process GO:0006401 9.5 RNASEH2C RNASEH2B RNASEH2A
16 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.48 SAMHD1 ADAR
17 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.35 WRN TREX1 RNASEH2A EXO1 ATRIP
18 cellular response to exogenous dsRNA GO:0071360 9.33 TMEM173 IFIH1 CGAS
19 DNA replication GO:0006260 9.17 WRN TREX1 SAMHD1 RNASEH2A KAT5 EXO1

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 9.95 WRN TREX1 SAMHD1 RNASEH2A IFIH1 EXO1
2 ribonuclease activity GO:0004540 9.46 SAMHD1 RNASEH2A
3 nuclease activity GO:0004518 9.46 WRN TREX1 RNASEH2A EXO1
4 double-stranded DNA binding GO:0003690 9.37 TREX1 CGAS
5 3'-5' exonuclease activity GO:0008408 9.32 WRN TREX1
6 MutLalpha complex binding GO:0032405 9.26 WRN TREX1
7 RNA-DNA hybrid ribonuclease activity GO:0004523 9.13 RNASEH2B RNASEH2A EXO1
8 exonuclease activity GO:0004527 8.92 WRN TREX1 EXO1 ATRIP
9 metal ion binding GO:0046872 10.13 WRN TREX1 SAMHD1 RNASEH2A KAT5 IFIH1

Sources for Aicardi-Goutieres Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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