AGS1
MCID: ACR116
MIFTS: 53

Aicardi-Goutieres Syndrome 1 (AGS1)

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 1

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 1:

Name: Aicardi-Goutieres Syndrome 1 57 74 72
Pseudotoxoplasmosis Syndrome 57 54 74
Cree Encephalitis 57 54 74
Ags1 57 53 74
Aicardi-Goutieres Syndrome 1, Dominant and Recessive 57 13
Aicardi Goutieres Syndrome 1 29 6
Pseudo-Torch Syndrome 74 72
Ags 57 17
Encephalopathy, Familial Infantile, with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 57
Encephalopathy Familial Infantile with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 74
Aicardi-Goutieres Syndrome, Type 1, Dominant and Recessive 40
Autosomal Dominant Aicardi-Goutieres Syndrome 74
Autoimmune Diseases of the Nervous System 44
Trex1-Related Aicardi-Goutieres Syndrome 53
Aicardi-Goutieres Syndrome Type 1 53
Aicardi-Goutieres Syndrome 5 72

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset within first year of life
rapidly progressive to persistent vegetative state or death
death within first year of life in 25%
some patients have a milder nonprogressive phenotype
heterozygous mutations reported, see
clinically mimics congenital torch infections (see )
genetic heterogeneity, see ags2 (), ags3 (), and ags4 ()


HPO:

32
aicardi-goutieres syndrome 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

UMLS 72 C0796126 C2749659 C3489725

Summaries for Aicardi-Goutieres Syndrome 1

NINDS : 54 Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified, but it is thought to be caused by a dominant mutation that appears for the first time in a family in an x-linked gene that may be lethal in certain males.. Aicardi syndrome can be seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known. Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) infantile spasms (a type of seizure disorder), and 3)chorioretinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional feature such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, small hands, and an increased incidence of tumors. (Aicardi syndrome is distinct from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.)

MalaCards based summary : Aicardi-Goutieres Syndrome 1, also known as pseudotoxoplasmosis syndrome, is related to aicardi-goutieres syndrome and vasculopathy, retinal, with cerebral leukodystrophy, and has symptoms including seizures, dry skin and muscle spasticity. An important gene associated with Aicardi-Goutieres Syndrome 1 is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways is DNA Damage Response. The drugs Mitoxantrone and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye, and related phenotypes are splenomegaly and hepatomegaly

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.

OMIM : 57 Aicardi-Goutieres syndrome 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 (IFNA1; 147660), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006). In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene. Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (251290), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (304050), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. (225750)

UniProtKB/Swiss-Prot : 74 Aicardi-Goutieres syndrome 1: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

Related Diseases for Aicardi-Goutieres Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 5811)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 30.6 TREX1 SHISA5 ATRIP
2 vasculopathy, retinal, with cerebral leukodystrophy 29.3 TREX1 SHISA5 ATRIP
3 pseudo-torch syndrome 2 13.0
4 macular degeneration, age-related, 1 12.8
5 aging 12.6
6 macular degeneration, age-related, 13 12.5
7 macular degeneration, age-related, 7 12.5
8 neuropathy, hereditary, with or without age-related macular degeneration 12.5
9 macular degeneration, age-related, 2 12.5
10 macular degeneration, age-related, 5 12.5
11 macular degeneration, age-related, 9 12.5
12 macular degeneration, age-related, 8 12.5
13 age-related hearing loss 12.5
14 macular degeneration, age-related, 4 12.5
15 macular degeneration, age-related, 12 12.5
16 macular degeneration, age-related, 14 12.5
17 macular degeneration, age-related, 6 12.5
18 macular degeneration, age-related, 11 12.5
19 macular degeneration, age-related, 15 12.5
20 macular degeneration, age-related, 10 12.5
21 premature aging syndrome, penttinen type 12.5
22 age-related hearing impairment 1 12.4
23 age-related hearing impairment 2 12.4
24 premature aging 12.3
25 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.3
26 menarche, age at, quantitative trait locus 1 12.3
27 menopause, natural, age at, quantitative trait locus 1 12.3
28 menopause, natural, age at, quantitative trait locus 2 12.3
29 menopause, natural, age at, quantitative trait locus 4 12.3
30 premature aging syndrome, okamoto type 12.3
31 cataract, age-related nuclear 12.2
32 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 12.2
33 menarche, age at, quantitative trait locus 2 12.2
34 menarche, age at, quantitative trait locus 3 12.2
35 creases, infra-auricular cutaneous, with tall stature and advanced bone age 12.2
36 dwarfism lethal type advanced bone age 12.0
37 gigantism advanced bone age hoarse cry 12.0
38 marfanoid habitus-inguinal hernia-advanced bone age syndrome 12.0
39 laminopathy with premature aging 12.0
40 obsolete: disease predisposing to age-related macular degeneration 12.0
41 cataract 28 12.0
42 cataract 6, multiple types 12.0
43 ceroid lipofuscinosis, neuronal, 1 11.9
44 werner syndrome 11.9
45 ceroid lipofuscinosis, neuronal, 2 11.9
46 hoyeraal hreidarsson syndrome 11.9
47 ceroid lipofuscinosis, neuronal, 5 11.8
48 ceroid lipofuscinosis, neuronal, 6 11.8
49 parkinson disease, late-onset 11.8
50 floating-harbor syndrome 11.8

Graphical network of the top 20 diseases related to Aicardi-Goutieres Syndrome 1:



Diseases related to Aicardi-Goutieres Syndrome 1

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 1

Human phenotypes related to Aicardi-Goutieres Syndrome 1:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 occasional (7.5%) HP:0001744
2 hepatomegaly 32 occasional (7.5%) HP:0002240
3 nystagmus 32 HP:0000639
4 seizures 32 HP:0001250
5 spasticity 32 HP:0001257
6 global developmental delay 32 HP:0001263
7 feeding difficulties in infancy 32 HP:0008872
8 fever 32 HP:0001945
9 acrocyanosis 32 HP:0001063
10 strabismus 32 HP:0000486
11 elevated hepatic transaminase 32 HP:0002910
12 dystonia 32 HP:0001332
13 thrombocytopenia 32 HP:0001873
14 multiple gastric polyps 32 HP:0004394
15 intellectual disability, profound 32 HP:0002187
16 petechiae 32 HP:0000967
17 abnormality of extrapyramidal motor function 32 HP:0002071
18 progressive encephalopathy 32 HP:0002448
19 prolonged neonatal jaundice 32 HP:0006579
20 leukoencephalopathy 32 HP:0002352
21 poor head control 32 HP:0002421
22 hepatosplenomegaly 32 HP:0001433
23 cerebral atrophy 32 HP:0002059
24 increased csf interferon alpha 32 HP:0009709
25 muscular hypotonia of the trunk 32 HP:0008936
26 chronic csf lymphocytosis 32 HP:0009704
27 progressive microcephaly 32 HP:0000253
28 basal ganglia calcification 32 HP:0002135
29 morphological abnormality of the pyramidal tract 32 HP:0002062
30 deep white matter hypodensities 32 HP:0007321
31 chilblains 32 HP:0009710

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dystonia
leukoencephalopathy
deep white matter hypodensities
abnormal eye movements
more
Laboratory Abnormalities:
abnormal liver function tests
increased serum alpha-interferon (ifna1, )
increased csf alpha-interferon
csf lymphocytosis

Head And Neck Head:
microcephaly, progressive

Abdomen Spleen:
splenomegaly (less common)

Immunology:
no evidence of common prenatal infections

Skin Nails Hair Skin:
purpura
petechiae
chilblains
acrocyanosis of the feet (in some patients)
jaundice, neonatal (in some patients)

Head And Neck Eyes:
abnormal eye movements
visual inattention

Abdomen Liver:
hepatomegaly (less common)

Hematology:
thrombocytopenia (less common)

Clinical features from OMIM:

225750

UMLS symptoms related to Aicardi-Goutieres Syndrome 1:


seizures, dry skin, muscle spasticity, petechiae of skin, scaly skin

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 1

Drugs for Aicardi-Goutieres Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
2 Analgesics Phase 4
3 Peripheral Nervous System Agents Phase 4
4
alemtuzumab Approved, Investigational Phase 3 216503-57-0
5 Antineoplastic Agents, Immunological Phase 3
6 Pharmaceutical Solutions Phase 3
7 Immunologic Factors Phase 3
8 gamma-Globulins Phase 3
9 Antibodies Phase 3
10 Immunoglobulins Phase 3
11 Immunoglobulins, Intravenous Phase 3
12 Rho(D) Immune Globulin Phase 3
13 Immunoglobulin G Phase 3
14
Abacavir Approved, Investigational Phase 2 136470-78-5 65140 441300
15
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
16
Zidovudine Approved Phase 2 30516-87-1 35370
17
Carmustine Approved, Investigational Phase 2 154-93-8 2578
18
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
19
Etoposide Approved Phase 2 33419-42-0 36462
20
Melphalan Approved Phase 2 148-82-3 460612 4053
21
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
22
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
23
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
24
Emtricitabine Approved, Investigational Phase 1, Phase 2 143491-57-0 60877
25
Melatonin Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 73-31-4 896
26
Cortisone Experimental Phase 2 53-06-5 222786
27
Tenofovir Experimental, Investigational Phase 1, Phase 2 147127-20-6 464205
28 Antimetabolites Phase 2
29 Topoisomerase Inhibitors Phase 2
30 Protein Kinase Inhibitors Phase 2
31 Janus Kinase Inhibitors Phase 2
32 Alkylating Agents Phase 2
33 Thymoglobulin Phase 2
34 Nitrogen Mustard Compounds Phase 2
35 glucocorticoids Phase 2
36 Anti-Inflammatory Agents Phase 2
37 Hormones Phase 2
38 Antineoplastic Agents, Phytogenic Phase 2
39 Immunosuppressive Agents Phase 2
40 Tubulin Modulators Phase 2
41 alanine Phase 2
42 Antilymphocyte Serum Phase 2
43 Antineoplastic Agents, Hormonal Phase 2
44 Hormone Antagonists Phase 2
45 Keratolytic Agents Phase 2
46 phenylalanine Phase 2
47 Dermatologic Agents Phase 2
48 Podophyllotoxin Phase 2 518-28-5
49 Etoposide phosphate Phase 2
50 Antineoplastic Agents, Alkylating Phase 2

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Pilot Study of Mitoxantrone for the Treatment of Recurrent Neuromyelitis Optica (Devic’s Disease) Completed NCT00304291 Phase 4 Mitoxantrone
2 Advanced Magnetic Resonance Imaging Measures of Repair in Alemtuzumab Treated Patients Completed NCT01307332 Phase 3 MabCampath-1h
3 A Phase III Study to Evaluate the Efficacy, Safety, and Tolerability of Immune Globulin Infusion 10% (Human) With Recombinant Human Hyaluronidase (HYQVIA/HyQvia) and Immune Globulin Infusion (Human), 10% (GAMMAGARD LIQUID/KIOVIG) for the Treatment of Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP) Recruiting NCT02549170 Phase 3
4 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
5 Multicenter Clinical Trial Phase I / II Randomized, Placebo-controlled Study to Evaluate Safety and Feasibility of Therapy With Two Different Doses of Autologous Mesenchymal Stem Cells in Patients With Secondary Progressive Multiple Sclerosis Who do Not Respond to Treatment Completed NCT01056471 Phase 1, Phase 2
6 A Phase 2 Double-Blind, Placebo Controlled Multi-Center Study to Evaluate the Efficacy and Safety of Tcelna in Subjects With Secondary Progressive Multiple Sclerosis Completed NCT01684761 Phase 2
7 Janus Kinase Inhibitor (Baricitinib) for Aicardi Goutières Syndrome Recruiting NCT03921554 Phase 2 Baricitinib
8 High-Dose Immunosuppressive Therapy Using Carmustine, Etoposide, Cytarabine, and Melphalan (BEAM) + Thymoglobulin Followed by Syngeneic or Autologous Hematopoietic Cell Transplantation for Patients With Autoimmune Neurologic Diseases Recruiting NCT00716066 Phase 2 Carmustine;Cytarabine;Etoposide;Melphalan;Prednisone
9 Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome Active, not recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)
10 Randomized, Single-blind, Placebo-controlled Clinical Trial to Evaluate the Safety and Efficacy of Melatonin Administration in Patients With Multiple Progressive Primary Sclerosis Not yet recruiting NCT03540485 Phase 1, Phase 2 Melatonin
11 IVIG Treatment for Refractory Immune-Related Adult Epilepsy Terminated NCT01545518 Phase 2 IVIG
12 Retrospective Cohort Study of Rebif® Use in Pediatric MS Patients Completed NCT01207648 Rebif®
13 Enhancing the Benefits of Pain and Fatigue Treatment in MS Completed NCT02474940
14 Everyday Life Cognition and Non-conventional Magnetic Resonance Markers in RRMS Patients Treated With Aubagio® in a Real-life Setting Recruiting NCT03768648
15 Behavior and Activity Monitoring in Multiple Sclerosis Recruiting NCT03244696
16 Compassionate Use Treatment Protocol I4V-MC-JAGA: Treatment of Conditions Expected to Benefit From JAK 1/2 Inhibition: CANDLE, CANDLE-Related Conditions, SAVI and Severe Juvenile Dermatomyositis No longer available NCT01724580 Baricitinib
17 An Open-label, Non-Randomized, Multi-Center Study to Assess the Safety and Effects of Autologous Adipose-Derived Stromal Cells Delivered Intravenously Into Patients With Multiple Sclerosis Withdrawn NCT01453764

Search NIH Clinical Center for Aicardi-Goutieres Syndrome 1

Cochrane evidence based reviews: autoimmune diseases of the nervous system

Genetic Tests for Aicardi-Goutieres Syndrome 1

Genetic tests related to Aicardi-Goutieres Syndrome 1:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 1 29 TREX1

Anatomical Context for Aicardi-Goutieres Syndrome 1

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 1:

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

Publications for Aicardi-Goutieres Syndrome 1

Articles related to Aicardi-Goutieres Syndrome 1:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 38 8 71
16845398 2006
2
Aicardi goutières syndrome is associated with pulmonary hypertension. 8 71
30219631 2018
3
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 8 71
20799324 2010
4
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 8 71
17846997 2007
5
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 8 71
17660818 2007
6
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. 8 71
16960810 2006
7
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. 38 8
19808788 2009
8
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 38 71
17357087 2007
9
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. 38 8
15908569 2006
10
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. 38 8
12624136 2003
11
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. 38 8
10827106 2000
12
Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release. 8
25769924 2015
13
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. 71
21808053 2011
14
Aicardi-Goutières syndrome (AGS). 8
18343173 2008
15
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 71
17440703 2007
16
Aicardi-Goutières Syndrome 71
20301648 2005
17
The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients. 8
15883328 2005
18
Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome. 8
15326633 2004
19
Systemic lupus erythematosus or Aicardi-Goutières syndrome? 8
10963096 2000
20
Familial systemic lupus erythematosus and congenital infection-like syndrome. 8
10963105 2000
21
Aicardi-Goutières syndrome: an update and results of interferon-alpha studies. 8
9851434 1998
22
Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. 8
9794439 1998
23
Aicardi-Goutières syndrome: an expanding phenotype. 8
9706629 1998
24
Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières. 8
9489795 1998
25
Brain calcification in patients with cerebral lupus. 8
8743125 1996
26
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). 8
8592332 1995
27
Encephalitis among Cree children in northern Quebec. 8
3239950 1988
28
Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. 8
3712392 1986
29
A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. 8
3731164 1986
30
A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. 8
6712192 1984
31
Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children. 8
4179335 1969
32
Novel Antifungal Compound Z-705 Specifically Inhibits Protein Kinase C of Filamentous Fungi. 38
30902853 2019
33
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 38
27643693 2016
34
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 38
26182405 2015
35
Localization and expression profile of Group I and II Activators of G-protein Signaling in the kidney. 38
25533045 2015
36
Epilepsy in Aicardi-Goutières syndrome. 38
24011626 2014
37
Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder? 38
22940555 2013
38
Regulation of the G-protein regulatory-Gαi signaling complex by nonreceptor guanine nucleotide exchange factors. 38
23212907 2013
39
Biochemical characterization of Paracoccidioides brasiliensis α-1,3-glucanase Agn1p, and its functionality by heterologous Expression in Schizosaccharomyces pombe. 38
23825576 2013
40
Aicardi-Goutières syndrome. 38
23622384 2013
41
Neuronal functions of activators of G protein signaling. 38
22571923 2013
42
Deletion of the α-(1,3)-glucan synthase genes induces a restructuring of the conidial cell wall responsible for the avirulence of Aspergillus fumigatus. 38
24244155 2013
43
A poly(A)-specific ribonuclease directly regulates the poly(A) status of mitochondrial mRNA in Arabidopsis. 38
23912222 2013
44
Fission yeast Ags1 confers the essential septum strength needed for safe gradual cell abscission. 38
22891259 2012
45
Rhes: a GTP-binding protein integral to striatal physiology and pathology. 38
22450871 2012
46
α1,3 glucans are dispensable in Aspergillus fumigatus. 38
22058140 2012
47
Surface α-1,3-glucan facilitates fungal stealth infection by interfering with innate immunity in plants. 38
22927818 2012
48
Rhes and AGS1/Dexras1 affect signaling by dopamine D1 receptors through adenylyl cyclase. 38
21374700 2011
49
The yeast-phase virulence requirement for α-glucan synthase differs among Histoplasma capsulatum chemotypes. 38
21037179 2011
50
What makes Aspergillus fumigatus a successful pathogen? Genes and molecules involved in invasive aspergillosis. 38
20974273 2010

Variations for Aicardi-Goutieres Syndrome 1

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 1:

6 (show top 50) (show all 51)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TREX1 NM_033629.6(TREX1): c.629G> A (p.Trp210Ter) single nucleotide variant Pathogenic rs184953805 3:48508683-48508683 3:48467284-48467284
2 TREX1 NM_033629.6(TREX1): c.703dup (p.Val235fs) duplication Pathogenic rs1553820434 3:48508757-48508757 3:48467358-48467358
3 TREX1 NM_016381.5(TREX1): c.764_766dupATG (p.Asp255dup) duplication Pathogenic rs74556809 3:48508653-48508655 3:48467254-48467256
4 TREX1 NM_033629.6(TREX1): c.602T> A (p.Val201Asp) single nucleotide variant Pathogenic rs78408272 3:48508656-48508656 3:48467257-48467257
5 TREX1 NM_033629.6(TREX1): c.598G> A (p.Asp200Asn) single nucleotide variant Pathogenic rs78846775 3:48508652-48508652 3:48467253-48467253
6 TREX1 NM_033629.6(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 3:48508106-48508106 3:48466707-48466707
7 TREX1 NM_033629.6(TREX1): c.206_207TG[5] (p.Ala72fs) short repeat Pathogenic rs74689946 3:48508266-48508267 3:48466867-48466868
8 TREX1 NM_033629.6(TREX1): c.365T> C (p.Val122Ala) single nucleotide variant Pathogenic rs79993407 3:48508419-48508419 3:48467020-48467020
9 TREX1 NM_033629.6(TREX1): c.366_368dup (p.Ala123dup) duplication Pathogenic rs77371662 3:48508420-48508422 3:48467021-48467023
10 TREX1 NM_033629.6(TREX1): c.393_408dup (p.Glu137fs) duplication Pathogenic rs74876396 3:48508447-48508462 3:48467048-48467063
11 TREX1 NM_033629.6(TREX1): c.500del (p.Ser167fs) deletion Pathogenic rs76642637 3:48508554-48508554 3:48467155-48467155
12 TREX1 NM_033629.6(TREX1): c.58dup (p.Glu20fs) duplication Pathogenic rs78300695 3:48508112-48508112 3:48466713-48466713
13 TREX1 NM_033629.6(TREX1): c.609_662dup (p.Leu204_Ala221dup) duplication Pathogenic rs78379807 3:48508663-48508716 3:48467264-48467317
14 TREX1 NM_033629.6(TREX1): c.625_628dup (p.Trp210fs) duplication Pathogenic rs78948846 3:48508679-48508682 3:48467280-48467283
15 TREX1 NM_033629.6(TREX1): c.868_885del (p.Pro290_Ala295del) deletion Pathogenic rs79318303 3:48508922-48508939 3:48467523-48467540
16 TREX1 NM_033629.6(TREX1): c.206_207TG[3] (p.Val71fs) short repeat Pathogenic rs74689946 3:48508266-48508267 3:48466867-48466868
17 TREX1 NM_033629.6(TREX1): c.581del (p.Ser194fs) deletion Pathogenic 3:48508635-48508635 3:48467236-48467236
18 TREX1 NM_033629.6(TREX1): c.508G> T (p.Glu170Ter) single nucleotide variant Pathogenic 3:48508562-48508562 3:48467163-48467163
19 TREX1 NM_033629.6(TREX1): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs760838030 3:48508394-48508394 3:48466995-48466995
20 TREX1 NM_033629.6(TREX1): c.290G> A (p.Arg97His) single nucleotide variant Likely pathogenic rs200773268 3:48508344-48508344 3:48466945-48466945
21 TREX1 NM_033629.6(TREX1): c.397del (p.Leu133fs) deletion Likely pathogenic rs78762691 3:48508451-48508451 3:48467052-48467052
22 TREX1 NM_033629.6(TREX1): c.829A> T (p.Lys277Ter) single nucleotide variant Likely pathogenic rs1553820518 3:48508883-48508883 3:48467484-48467484
23 TREX1 NM_033629.6(TREX1): c.490C> T (p.Arg164Ter) single nucleotide variant Likely pathogenic rs78218009 3:48508544-48508544 3:48467145-48467145
24 TREX1 NM_033629.6(TREX1): c.341G> A (p.Arg114His) single nucleotide variant Conflicting interpretations of pathogenicity rs72556554 3:48508395-48508395 3:48466996-48466996
25 TREX1 NM_033629.6(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 3:48508851-48508851 3:48467452-48467452
26 TREX1 NM_033629.6(TREX1): c.219G> A (p.Pro73=) single nucleotide variant Conflicting interpretations of pathogenicity rs778992418 3:48508273-48508273 3:48466874-48466874
27 TREX1 NM_033629.6(TREX1): c.294dup (p.Cys99fs) duplication Conflicting interpretations of pathogenicity rs760594164 3:48508348-48508348 3:48466949-48466949
28 TREX1 NM_033629.6(TREX1): c.-26-1G> A single nucleotide variant Conflicting interpretations of pathogenicity 3:48508028-48508028 3:48466629-48466629
29 TREX1 NM_033629.6(TREX1): c.250A> G (p.Ile84Val) single nucleotide variant Uncertain significance 3:48508304-48508304 3:48466905-48466905
30 TREX1 NM_033629.6(TREX1): c.251T> C (p.Ile84Thr) single nucleotide variant Uncertain significance 3:48508305-48508305 3:48466906-48466906
31 TREX1 NM_033629.6(TREX1): c.640G> A (p.Ala214Thr) single nucleotide variant Uncertain significance 3:48508694-48508694 3:48467295-48467295
32 TREX1 NM_033629.6(TREX1): c.734C> G (p.Pro245Arg) single nucleotide variant Uncertain significance 3:48508788-48508788 3:48467389-48467389
33 TREX1 NM_033629.6(TREX1): c.784C> T (p.Pro262Ser) single nucleotide variant Uncertain significance 3:48508838-48508838 3:48467439-48467439
34 TREX1 NM_033629.6(TREX1): c.418A> G (p.Met140Val) single nucleotide variant Uncertain significance rs761526437 3:48508472-48508472 3:48467073-48467073
35 TREX1 NM_033629.6(TREX1): c.623G> C (p.Cys208Ser) single nucleotide variant Uncertain significance 3:48508677-48508677 3:48467278-48467278
36 TREX1 NM_033629.6(TREX1): c.869C> T (p.Pro290Leu) single nucleotide variant Uncertain significance 3:48508923-48508923 3:48467524-48467524
37 TREX1 NM_033629.6(TREX1): c.338G> A (p.Arg113Gln) single nucleotide variant Uncertain significance 3:48508392-48508392 3:48466993-48466993
38 TREX1 NM_033629.6(TREX1): c.690G> C (p.Arg230Ser) single nucleotide variant Uncertain significance 3:48508744-48508744 3:48467345-48467345
39 TREX1 NM_033629.6(TREX1): c.739G> C (p.Ala247Pro) single nucleotide variant Uncertain significance 3:48508793-48508793 3:48467394-48467394
40 TREX1 NM_033629.6(TREX1): c.907A> C (p.Thr303Pro) single nucleotide variant Uncertain significance rs76224909 3:48508961-48508961 3:48467562-48467562
41 TREX1 NM_033629.6(TREX1): c.587C> T (p.Thr196Met) single nucleotide variant Uncertain significance rs754998766 3:48508641-48508641 3:48467242-48467242
42 TREX1 NM_033629.6(TREX1): c.899C> T (p.Ala300Val) single nucleotide variant Uncertain significance rs1553820567 3:48508953-48508953 3:48467554-48467554
43 TREX1 NM_033629.6(TREX1): c.218C> T (p.Pro73Leu) single nucleotide variant Uncertain significance rs755919767 3:48508272-48508272 3:48466873-48466873
44 TREX1 NM_033629.6(TREX1): c.923C> G (p.Ser308Cys) single nucleotide variant Uncertain significance rs769885715 3:48508977-48508977 3:48467578-48467578
45 TREX1 NM_033629.6(TREX1): c.382C> T (p.Arg128Cys) single nucleotide variant Uncertain significance rs199614534 3:48508436-48508436 3:48467037-48467037
46 TREX1 NM_033629.6(TREX1): c.484C> T (p.Leu162=) single nucleotide variant Likely benign rs1553820257 3:48508538-48508538 3:48467139-48467139
47 TREX1 NM_033629.6(TREX1): c.183G> A (p.Pro61=) single nucleotide variant Likely benign rs55852466 3:48508237-48508237 3:48466838-48466838
48 TREX1 NM_033629.6(TREX1): c.462T> C (p.Asp154=) single nucleotide variant Benign/Likely benign rs3135944 3:48508516-48508516 3:48467117-48467117
49 TREX1 NM_033629.6(TREX1): c.198G> A (p.Lys66=) single nucleotide variant Benign/Likely benign rs3135943 3:48508252-48508252 3:48466853-48466853
50 TREX1 NM_033629.6(TREX1): c.531T> C (p.Tyr177=) single nucleotide variant Benign rs11797 3:48508585-48508585 3:48467186-48467186

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 1:

74
# Symbol AA change Variation ID SNP ID
1 TREX1 p.Arg114His VAR_028319 rs72556554
2 TREX1 p.Val201Asp VAR_028321 rs78408272
3 TREX1 p.Asp200Asn VAR_032940 rs78846775
4 TREX1 p.Asp18Asn VAR_037948 rs121908117
5 TREX1 p.Val122Ala VAR_070899 rs79993407
6 TREX1 p.Glu198Lys VAR_070900 rs141651971
7 TREX1 p.Asp200His VAR_070901
8 TREX1 p.Thr303Pro VAR_070902 rs76224909

Expression for Aicardi-Goutieres Syndrome 1

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 1.

Pathways for Aicardi-Goutieres Syndrome 1

Pathways related to Aicardi-Goutieres Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.99 SHISA5 ATRIP

GO Terms for Aicardi-Goutieres Syndrome 1

Cellular components related to Aicardi-Goutieres Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 8.62 TREX1 SHISA5

Biological processes related to Aicardi-Goutieres Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 8.96 TREX1 ATRIP
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 8.62 TREX1 ATRIP

Molecular functions related to Aicardi-Goutieres Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exonuclease activity GO:0004527 8.62 TREX1 ATRIP

Sources for Aicardi-Goutieres Syndrome 1

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