AGS
MCID: ACR001
MIFTS: 62

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 74 52 25 53 58 36 15 39 71
Aicardi Goutieres Syndrome 52 25 29 6
Encephalopathy with Basal Ganglia Calcification 52 25 58
Cree Encephalitis 12 52 25
Encephalopathy with Intracranial Calcification and Chronic Lymphocytosis of Cerebrospinal Fluid 52 58
Pseudotoxoplasmosis Syndrome 52 25
Aicardi-Goutières Syndrome 24 25
Ags 52 25
Encephalopathy, Familial Infantile, with Calcification of Basal Ganglia and Chronic Cerebrospinal Fluid Lymphocytosis 52
Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 25
Aicardi-Goutieres Syndrome 1 71

Characteristics:

Orphanet epidemiological data:

58
aicardi-goutieres syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases
Rare immunological diseases


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 cells 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 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, liver and skin, and related phenotypes are global developmental delay and arrhinencephaly

Disease Ontology : 12 A syndrome 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 : 52 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 : 53 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 : 36 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 : 74 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 5822)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 1 35.8 TREX1 ATRIP-TREX1 ATRIP
2 aicardi-goutieres syndrome 3 35.6 RNASEH2C KAT5
3 aicardi-goutieres syndrome 4 35.6 RNASEH2A LOC117038795
4 aicardi-goutieres syndrome 2 35.6 RNASEH2B-AS1 RNASEH2B
5 aicardi-goutieres syndrome 5 35.5 TLDC2 SAMHD1
6 hutchinson-gilford progeria syndrome 32.9 WRN H2AC18 ERCC6
7 xeroderma pigmentosum, variant type 32.6 WRN H2AC18 EXO1 ERCC6 ATRIP
8 rothmund-thomson syndrome, type 2 32.4 WRN H2AC18 EXO1 ERCC6
9 xfe progeroid syndrome 32.2 WRN ERCC6
10 xeroderma pigmentosum, complementation group g 32.1 H2AC18 EXO1 ERCC6
11 ruijs-aalfs syndrome 32.1 WRN H2AC18
12 familial chilblain lupus 32.1 TREX1 STING1 SAMHD1
13 fanconi anemia, complementation group a 32.1 WRN IRF3 H2AC18 EXO1 ERCC6 ATRIP
14 microcephaly 31.9 TREX1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IFIH1
15 leukodystrophy 31.9 TREX1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A ERCC6
16 dyschromatosis symmetrica hereditaria 31.7 RNASEH2C RNASEH2B RNASEH2A ADAR
17 chilblain lupus 1 31.7 TREX1 STING1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A
18 vasculopathy, retinal, with cerebral leukodystrophy 31.7 TREX1 STING1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A
19 type 1 interferonopathy 31.4 TREX1 SAMHD1
20 chilblain lupus 2 31.3 TLDC2 SAMHD1
21 thrombocytopenia 31.1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IFIH1 ADAR
22 herpes simplex 31.1 STING1 IRF3 IFIH1 CGAS
23 dystonia 30.9 SAMHD1 RNASEH2C RNASEH2B RNASEH2A ADAR
24 cerebral degeneration 30.4 TREX1 H2AC18 ERCC6
25 coronavirus infectious disease 30.4 IRF3 IFIH1 H2AC18
26 xeroderma pigmentosum, complementation group d 30.3 WRN H2AC18 ERCC6
27 sting-associated vasculopathy with onset in infancy 30.3 STING1 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IRF3
28 fanconi anemia, complementation group j 30.2 WRN H2AC18 ERCC6
29 autosomal recessive cerebellar ataxia 30.2 WRN H2AC18 ERCC6 ATRIP
30 herpangina 30.1 IRF3 IFIH1 H2AC18
31 basal ganglia disease 29.9 SAMHD1 RNASEH2C RNASEH2B RNASEH2A IFIH1 ERCC6
32 muscular disease 29.9 IFIH1 H2AC18 ERCC6
33 seckel syndrome 29.9 WRN H2AC18 EXO1 ERCC6 ATRIP
34 trichothiodystrophy 1, photosensitive 29.7 WRN H2AC18 ERCC6
35 aicardi-goutieres syndrome 6 13.0
36 aicardi-goutieres syndrome 7 13.0
37 macular degeneration, age-related, 1 12.8
38 aging 12.6
39 macular degeneration, age-related, 13 12.6
40 macular degeneration, age-related, 7 12.6
41 macular degeneration, age-related, 2 12.6
42 premature aging syndrome, penttinen type 12.5
43 neuropathy, hereditary, with or without age-related macular degeneration 12.5
44 macular degeneration, age-related, 9 12.5
45 macular degeneration, age-related, 5 12.5
46 macular degeneration, age-related, 8 12.5
47 macular degeneration, age-related, 4 12.5
48 macular degeneration, age-related, 14 12.5
49 macular degeneration, age-related, 6 12.5
50 age-related hearing loss 12.5

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:

58 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 arrhinencephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002139
3 intellectual disability, profound 58 31 hallmark (90%) Very frequent (99-80%) HP:0002187
4 multifocal cerebral white matter abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0007052
5 porencephalic cyst 31 hallmark (90%) HP:0002132
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
10 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
11 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
12 autoimmunity 58 31 frequent (33%) Frequent (79-30%) HP:0002960
13 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
14 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
15 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
16 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
17 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
18 leukodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002415
19 hepatosplenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001433
20 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
21 unexplained fevers 58 31 frequent (33%) Frequent (79-30%) HP:0001955
22 increased csf interferon alpha 58 31 frequent (33%) Frequent (79-30%) HP:0009709
23 brain atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012444
24 increased serum interferon-gamma level 58 31 frequent (33%) Frequent (79-30%) HP:0030356
25 loss of speech 58 31 frequent (33%) Frequent (79-30%) HP:0002371
26 large beaked nose 58 31 frequent (33%) Frequent (79-30%) HP:0003683
27 extrapyramidal muscular rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0007076
28 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
29 chronic csf lymphocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0009704
30 seizure 31 frequent (33%) HP:0001250
31 eyelid coloboma 31 frequent (33%) HP:0000625
32 chilblains 31 frequent (33%) HP:0009710
33 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
34 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
35 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
36 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
37 acrocyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001063
38 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
39 spastic tetraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002510
40 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
41 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
42 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
43 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
44 multiple joint contractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002828
45 muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003552
46 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
47 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
48 hoarse voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001609
49 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
50 plagiocephaly 58 31 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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 ERCC6
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 ERCC6 EXO1 RNASEH2A RNASEH2C
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.4 ERCC6 EXO1 KAT5 RNASEH2A RNASEH2B RNASEH2C

MGI Mouse Phenotypes related to Aicardi-Goutieres Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 ADAR ERCC6 EXO1 IFIH1 IRF3 KAT5
2 hematopoietic system MP:0005397 10 ADAR CGAS ERCC6 EXO1 IFIH1 IRF3
3 homeostasis/metabolism MP:0005376 9.93 ADAR ATRIP CGAS ERCC6 EXO1 IFIH1
4 immune system MP:0005387 9.77 ADAR CGAS ERCC6 EXO1 IFIH1 IRF3
5 mortality/aging MP:0010768 9.47 ADAR ATRIP CGAS ERCC6 EXO1 IFIH1

Drugs & Therapeutics for Aicardi-Goutieres Syndrome

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
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 Experimental, Investigational Phase 1, Phase 2 147127-20-6 464205
7 Pharmaceutical Solutions Phase 2
8 Antimetabolites Phase 2
9 Janus Kinase Inhibitors Phase 2
10 Anti-Infective Agents Phase 1, Phase 2
11 Anti-HIV Agents Phase 1, Phase 2
12 interferons Phase 1, Phase 2
13 Reverse Transcriptase Inhibitors Phase 1, Phase 2
14 Antiviral Agents Phase 1, Phase 2
15 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 Not yet recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)
4 An Observational Study to Assess Clinical Manifestations and Biomarkers in Amyotrophic Lateral Sclerosis Type 4 and Other Inherited Neurological Disorders of RNA Processing Recruiting NCT04394871

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:

40
Brain, Liver, Skin, Spleen, Spinal Cord, Eye, Testes

Publications for Aicardi-Goutieres Syndrome

Articles related to Aicardi-Goutieres Syndrome:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 6 24 61
25604658 2015
2
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 61 24 6
17846997 2007
3
Genetic syndromes mimic congenital infections. 61 6 24
15870678 2005
4
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 6 24
25243380 2014
5
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 6 24
24686847 2014
6
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 24 6
24262145 2014
7
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 24 6
23001123 2012
8
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. 24 6
21204240 2011
9
Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. 24 6
20358604 2010
10
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. 24 6
19525956 2009
11
Dyschromatosis symmetrica hereditaria associated with neurological disorders. 24 6
19017046 2008
12
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 24 6
17660818 2007
13
Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation. 24 6
16817193 2006
14
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 24 6
16845398 2006
15
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 6 24
16845400 2006
16
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. 61 6
21454563 2011
17
Aicardi goutières syndrome is associated with pulmonary hypertension. 6
30219631 2018
18
Aicardi-Goutières syndrome is caused by IFIH1 mutations. 6
24995871 2014
19
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. 24 61
22829693 2013
20
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C. 6
23322642 2013
21
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations. 24 61
21633013 2011
22
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. 6
21102625 2011
23
Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. 24 61
19628626 2009
24
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. 61 24
19808788 2009
25
Trex1 prevents cell-intrinsic initiation of autoimmunity. 61 24
18724932 2008
26
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 61 24
17357087 2007
27
Aicardi-Goutières Syndrome 6
20301648 2005
28
Human disease phenotypes associated with mutations in TREX1. 24
25731743 2015
29
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus. 24
24407470 2014
30
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. 24
24300241 2014
31
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). 24
24376015 2014
32
Therapies in Aicardi-Goutières syndrome. 24
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. 24
24183309 2013
34
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. 24
23592335 2013
35
Recognizable phenotypes associated with intracranial calcification. 24
23121296 2013
36
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. 24
22267198 2012
37
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase. 24
22056990 2011
38
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. 24
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. 24
20842748 2010
40
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 24
20799324 2010
41
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. 24
20727516 2010
42
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. 24
20653736 2010
43
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 24
20131292 2010
44
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. 24
19012351 2008
45
Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new syndrome. 24
18925673 2008
46
Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. 24
18045533 2007
47
C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 24
17660820 2007
48
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 24
17440703 2007
49
Cerebroretinal microangiopathy with calcifications and cysts. 24
16943371 2006
50
Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome. 24
16354995 2006

Variations for Aicardi-Goutieres Syndrome

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNASEH2B NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)SNV Pathogenic/Likely pathogenic 1262 rs75184679 13:51519581-51519581 13:50945445-50945445
2 RNASEH2A NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)SNV Likely pathogenic 66068 rs77103971 19:12921137-12921137 19:12810323-12810323
3 SAMHD1 NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn)SNV Conflicting interpretations of pathogenicity 30605 rs138603088 20:35559186-35559186 20:36930783-36930783
4 TREX1 NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)SNV Conflicting interpretations of pathogenicity 96242 rs55999987 3:48508851-48508851 3:48467452-48467452
5 ADAR NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)SNV Conflicting interpretations of pathogenicity 126395 rs145588689 1:154574541-154574541 1:154602065-154602065
6 TREX1 NM_130384.3(ATRIP):c.*655G>CSNV Uncertain significance 345766 rs577465983 3:48507608-48507608 3:48466209-48466209
7 TREX1 NM_130384.3(ATRIP):c.*495C>TSNV Uncertain significance 345763 rs377157141 3:48507448-48507448 3:48466049-48466049
8 TREX1 NM_130384.3(ATRIP):c.*576G>TSNV Uncertain significance 345764 rs886058622 3:48507529-48507529 3:48466130-48466130
9 TREX1 NM_130384.3(ATRIP):c.*583A>GSNV Uncertain significance 345765 rs767364235 3:48507536-48507536 3:48466137-48466137
10 TREX1 NM_033629.6(TREX1):c.-50_-47CTGC[4]short repeat Uncertain significance 345771 rs371036312 3:48507685-48507688 3:48466286-48466289
11 RNASEH2C NM_032193.3(RNASEH2C):c.*45_*46insGinsertion Uncertain significance 305355 rs886048498 11:65487208-65487209 11:65719737-65719738
12 RNASEH2C NM_032193.3(RNASEH2C):c.348+6C>TSNV Uncertain significance 305362 rs779293116 11:65487707-65487707 11:65720236-65720236
13 RNASEH2B NM_001142279.2(RNASEH2B):c.-313C>GSNV Uncertain significance 312322 rs886050287 13:51483900-51483900 13:50909764-50909764
14 RNASEH2A NM_006397.2(RNASEH2A):c.-25A>GSNV Uncertain significance 328287 rs886054235 19:12917463-12917463 19:12806649-12806649
15 RNASEH2A NM_006397.2(RNASEH2A):c.-49C>TSNV Uncertain significance 328286 rs375281767 19:12917439-12917439 19:12806625-12806625
16 RNASEH2C NM_182710.3(KAT5):c.1425-36dupduplication Likely benign 305339 rs142614068 11:65486305-65486306 11:65718834-65718835
17 TREX1 NM_130384.3(ATRIP):c.*665C>TSNV Likely benign 345767 rs548710061 3:48507618-48507618 3:48466219-48466219
18 TREX1 NM_130384.3(ATRIP):c.*267T>CSNV Likely benign 345761 rs148393533 3:48507220-48507220 3:48465821-48465821
19 TREX1 NM_130384.3(ATRIP):c.*272deldeletion Likely benign 345762 rs3135939 3:48507224-48507224 3:48465825-48465825
20 RNASEH2C NM_032193.4(RNASEH2C):c.265_267AAG[1] (p.Lys90del)short repeat Benign/Likely benign 305363 rs141875736 11:65487791-65487793 11:65720320-65720322
21 RNASEH2B NM_001142279.2(RNASEH2B):c.741+6955dupduplication Benign/Likely benign 281198 rs75254367 13:51530586-51530587 13:50956450-50956451
22 TREX1 NM_033629.6(TREX1):c.912G>A (p.Leu304=)SNV Benign 262243 rs3135945 3:48508966-48508966 3:48467567-48467567
23 TREX1 NM_033629.6(TREX1):c.531= (p.Tyr177=)SNV Benign 96241 rs11797 3:48508585-48508585 3:48467186-48467186
24 TREX1 NM_033629.6(TREX1):c.-68T>CSNV Benign 345769 rs3135941 3:48507667-48507667 3:48466268-48466268
25 TREX1 NM_033629.6(TREX1):c.*37T>CSNV Benign 345780 rs3135946 3:48509036-48509036 3:48467637-48467637

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
2 DNA replication hsa03030
3 RIG-I-like receptor signaling pathway hsa04622

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 nucleoplasm GO:0005654 9.9 WRN STING1 SAMHD1 RNASEH2B RNASEH2A KAT5
2 nucleus GO:0005634 9.86 WRN TREX1 TLDC2 SAMHD1 RNASEH2C RNASEH2B
3 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 30)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 10.04 STING1 SAMHD1 KAT5 IRF3 IFIH1 CGAS
2 immune system process GO:0002376 10.04 STING1 SAMHD1 IRF3 IFIH1 EXO1 CGAS
3 innate immune response GO:0045087 10.02 TREX1 STING1 SAMHD1 IRF3 IFIH1 CGAS
4 cellular response to DNA damage stimulus GO:0006974 9.92 WRN TREX1 SAMHD1 IRF3 EXO1 ERCC6
5 DNA repair GO:0006281 9.91 WRN TREX1 SAMHD1 EXO1 ERCC6 CGAS
6 regulation of signal transduction by p53 class mediator GO:1901796 9.86 WRN KAT5 EXO1 ATRIP
7 response to oxidative stress GO:0006979 9.82 WRN TLDC2 ERCC6
8 DNA recombination GO:0006310 9.81 WRN TREX1 EXO1
9 regulation of inflammatory response GO:0050727 9.8 TREX1 STING1 IRF3
10 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.8 WRN TREX1 RNASEH2A EXO1 ATRIP
11 DNA duplex unwinding GO:0032508 9.78 WRN TREX1 ERCC6
12 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.77 RNASEH2B RNASEH2A EXO1
13 positive regulation of type I interferon production GO:0032481 9.77 STING1 IRF3 CGAS
14 type I interferon signaling pathway GO:0060337 9.73 TREX1 SAMHD1 IRF3 ADAR
15 mismatch repair GO:0006298 9.71 TREX1 RNASEH2A EXO1
16 positive regulation of defense response to virus by host GO:0002230 9.7 STING1 ERCC6 CGAS
17 RNA catabolic process GO:0006401 9.69 RNASEH2C RNASEH2B RNASEH2A
18 determination of adult lifespan GO:0008340 9.64 TREX1 CGAS
19 somatic hypermutation of immunoglobulin genes GO:0016446 9.63 SAMHD1 EXO1
20 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.63 TREX1 SAMHD1 ADAR
21 positive regulation of interferon-alpha production GO:0032727 9.62 IRF3 IFIH1
22 t-circle formation GO:0090656 9.62 WRN EXO1
23 regulation of T cell activation GO:0050863 9.61 TREX1 CGAS
24 regulation of cellular metabolic process GO:0031323 9.58 TREX1 STING1
25 regulation of immunoglobulin production GO:0002637 9.58 TREX1 CGAS
26 cellular response to exogenous dsRNA GO:0071360 9.56 STING1 IRF3 IFIH1 CGAS
27 MDA-5 signaling pathway GO:0039530 9.55 IRF3 IFIH1
28 defense response to virus GO:0051607 9.5 TREX1 STING1 SAMHD1 IRF3 IFIH1 CGAS
29 regulation of type I interferon production GO:0032479 9.46 TREX1 STING1 IRF3 CGAS
30 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 DNA binding GO:0003677 10.02 WRN TREX1 IRF3 IFIH1 H2AC18 EXO1
2 hydrolase activity GO:0016787 9.92 WRN TREX1 SAMHD1 RNASEH2A IFIH1 EXO1
3 nuclease activity GO:0004518 9.46 WRN TREX1 RNASEH2A EXO1
4 3'-5' exonuclease activity GO:0008408 9.4 WRN TREX1
5 MutLalpha complex binding GO:0032405 9.26 WRN TREX1
6 RNA-DNA hybrid ribonuclease activity GO:0004523 9.13 RNASEH2B RNASEH2A EXO1
7 exonuclease activity GO:0004527 8.92 WRN TREX1 EXO1 ATRIP

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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