AGS1
MCID: ACR116
MIFTS: 52

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 56 73 71
Pseudotoxoplasmosis Syndrome 56 53 73
Cree Encephalitis 56 53 73
Aicardi-Goutieres Syndrome 1, Dominant and Recessive 56 13
Aicardi Goutieres Syndrome 1 29 6
Pseudo-Torch Syndrome 73 71
Ags1 56 73
Ags 56 17
Encephalopathy, Familial Infantile, with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 56
Encephalopathy Familial Infantile with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 73
Aicardi-Goutieres Syndrome, Type 1, Dominant and Recessive 39
Autosomal Dominant Aicardi-Goutieres Syndrome 73
Autoimmune Diseases of the Nervous System 43
Aicardi-Goutieres Syndrome 5 71

Characteristics:

OMIM:

56
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:

31
aicardi-goutieres syndrome 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Aicardi-Goutieres Syndrome 1

NINDS : 53 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 cerebral degeneration, 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 Chks in Checkpoint Regulation. The drugs Mitoxantrone and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are splenomegaly and hepatomegaly

OMIM : 56 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 : 73 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 5813)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 30.9 TREX1 ATRIP-TREX1 ATRIP
2 cerebral degeneration 28.7 TREX1 MBP
3 pseudo-torch syndrome 2 13.0
4 macular degeneration, age-related, 1 12.8
5 pseudo-torch syndrome 3 12.6
6 aging 12.6
7 macular degeneration, age-related, 13 12.6
8 macular degeneration, age-related, 7 12.6
9 macular degeneration, age-related, 2 12.6
10 premature aging syndrome, penttinen type 12.5
11 neuropathy, hereditary, with or without age-related macular degeneration 12.5
12 macular degeneration, age-related, 9 12.5
13 macular degeneration, age-related, 5 12.5
14 macular degeneration, age-related, 8 12.5
15 macular degeneration, age-related, 4 12.5
16 macular degeneration, age-related, 14 12.5
17 macular degeneration, age-related, 6 12.5
18 age-related hearing loss 12.5
19 macular degeneration, age-related, 12 12.5
20 macular degeneration, age-related, 10 12.5
21 macular degeneration, age-related, 11 12.5
22 macular degeneration, age-related, 15 12.5
23 age-related hearing impairment 1 12.4
24 premature aging 12.4
25 age-related hearing impairment 2 12.4
26 skeletal dysplasia, mild, with joint laxity and advanced bone age 12.4
27 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.3
28 menarche, age at, quantitative trait locus 1 12.3
29 menopause, natural, age at, quantitative trait locus 1 12.3
30 menopause, natural, age at, quantitative trait locus 2 12.3
31 menopause, natural, age at, quantitative trait locus 4 12.3
32 premature aging syndrome, okamoto type 12.3
33 cataract, age-related nuclear 12.2
34 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 12.2
35 menarche, age at, quantitative trait locus 2 12.2
36 menarche, age at, quantitative trait locus 3 12.2
37 creases, infra-auricular cutaneous, with tall stature and advanced bone age 12.2
38 dwarfism lethal type advanced bone age 12.1
39 gigantism advanced bone age hoarse cry 12.1
40 marfanoid habitus-inguinal hernia-advanced bone age syndrome 12.1
41 laminopathy with premature aging 12.1
42 cataract 28 12.0
43 cataract 6, multiple types 12.0
44 werner syndrome 11.9
45 ceroid lipofuscinosis, neuronal, 2 11.9
46 short stature, hearing loss, retinitis pigmentosa, and distinctive facies 11.9
47 hoyeraal hreidarsson syndrome 11.9
48 ceroid lipofuscinosis, neuronal, 5 11.9
49 parkinson disease, late-onset 11.9
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:

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

Symptoms via clinical synopsis from OMIM:

56
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 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mitoxantrone Approved, Investigational Phase 4 65271-80-9 4212
2 Analgesics Phase 4
3
alemtuzumab Approved, Investigational Phase 3 216503-57-0
4 Antineoplastic Agents, Immunological Phase 3
5 Pharmaceutical Solutions Phase 3
6 Immunologic Factors Phase 3
7 Immunoglobulins Phase 3
8 Antibodies Phase 3
9 Immunoglobulins, Intravenous Phase 3
10 Rho(D) Immune Globulin Phase 3
11 gamma-Globulins Phase 3
12 Immunoglobulin G Phase 3
13
Abacavir Approved, Investigational Phase 2 136470-78-5 441300 65140
14
Zidovudine Approved Phase 2 30516-87-1 35370
15
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
16
Carmustine Approved, Investigational Phase 2 154-93-8 2578
17
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
18
Etoposide Approved Phase 2 33419-42-0 36462
19
Mechlorethamine Approved, Investigational Phase 2 51-75-2 4033
20
Cytarabine Approved, Experimental, Investigational Phase 2 147-94-4, 65-46-3 6253
21
Melphalan Approved Phase 2 148-82-3 460612 4053
22
Adenosine Approved, Investigational Phase 1, Phase 2 58-61-7 60961
23
Emtricitabine Approved, Investigational Phase 1, Phase 2 143491-57-0 60877
24
Melatonin Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 73-31-4 896
25
Phenylalanine Approved, Investigational, Nutraceutical Phase 2 63-91-2 6140
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 Janus Kinase Inhibitors Phase 2
30 Antioxidants Phase 1, Phase 2
31 Protective Agents Phase 1, Phase 2
32 Etoposide phosphate Phase 2
33 Hormones Phase 2
34 glucocorticoids Phase 2
35 Antineoplastic Agents, Hormonal Phase 2
36 Immunosuppressive Agents Phase 2
37 Nitrogen Mustard Compounds Phase 2
38 Alkylating Agents Phase 2
39 Hormone Antagonists Phase 2
40 Dermatologic Agents Phase 2
41 Thymoglobulin Phase 2
42 Podophyllotoxin Phase 2 518-28-5
43 Tubulin Modulators Phase 2
44 Keratolytic Agents Phase 2
45 Antimitotic Agents Phase 2
46 Antilymphocyte Serum Phase 2
47 Anti-Inflammatory Agents Phase 2
48 Anti-Infective Agents Phase 1, Phase 2
49 Anti-HIV Agents Phase 1, Phase 2
50 Reverse Transcriptase Inhibitors Phase 1, 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) Active, not 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 Randomized, Single-blind, Placebo-controlled Clinical Trial to Evaluate the Safety and Efficacy of Melatonin Administration in Patients With Multiple Progressive Primary Sclerosis Recruiting NCT03540485 Phase 1, Phase 2 Melatonin
9 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
10 Reverse Transcriptase Inhibitors in Aicardi Goutières Syndrome Not yet recruiting NCT03304717 Phase 1, Phase 2 Tenofovir (TDF) and Emtricitabine (FTC)
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 The Impact of Myasthenia Gravis in the Real World Recruiting NCT04176211
15 Everyday Life Cognition and Non-conventional Magnetic Resonance Markers in RRMS Patients Treated With Aubagio® in a Real-life Setting Recruiting NCT03768648
16 Behavior and Activity Monitoring in Multiple Sclerosis Recruiting NCT03244696
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:

40
Skin, Eye, Brain, Retina, Liver, Testes, T Cells

Publications for Aicardi-Goutieres Syndrome 1

Articles related to Aicardi-Goutieres Syndrome 1:

(show all 34)
# Title Authors PMID Year
1
Aicardi goutières syndrome is associated with pulmonary hypertension. 6 56
30219631 2018
2
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 6 56
20799324 2010
3
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 6 56
17846997 2007
4
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 6 56
17660818 2007
5
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. 6 56
16960810 2006
6
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 6 56
16845398 2006
7
Aicardi-Goutières syndrome (AGS). 61 56
18343173 2008
8
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. 56 61
12624136 2003
9
Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release. 56
25769924 2015
10
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. 6
21808053 2011
11
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. 56
19808788 2009
12
A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 6
17440703 2007
13
Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 6
17357087 2007
14
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21. 56
15908569 2006
15
Aicardi-Goutières Syndrome 6
20301648 2005
16
The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients. 56
15883328 2005
17
Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome. 56
15326633 2004
18
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. 56
10827106 2000
19
Systemic lupus erythematosus or Aicardi-Goutières syndrome? 56
10963096 2000
20
Familial systemic lupus erythematosus and congenital infection-like syndrome. 56
10963105 2000
21
Aicardi-Goutières syndrome: an update and results of interferon-alpha studies. 56
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. 56
9794439 1998
23
Aicardi-Goutières syndrome: an expanding phenotype. 56
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. 56
9489795 1998
25
Brain calcification in patients with cerebral lupus. 56
8743125 1996
26
The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). 56
8592332 1995
27
Encephalitis among Cree children in northern Quebec. 56
3239950 1988
28
Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. 56
3712392 1986
29
A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. 56
3731164 1986
30
A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. 56
6712192 1984
31
Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children. 56
4179335 1969
32
Fine-tuning of type I IFN-signaling in microglia--implications for homeostasis, CNS autoimmunity and interferonopathies. 61
26397019 2016
33
Population history and its impact on medical genetics in Quebec. 61
16143014 2005
34
T-cell receptors: germline polymorphism and patterns of usage in demyelinating diseases. 54
1382445 1992

Variations for Aicardi-Goutieres Syndrome 1

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 1:

6 (show top 50) (show all 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TREX1 NM_033629.6(TREX1):c.703dup (p.Val235fs)duplication Pathogenic 449514 rs1553820434 3:48508753-48508754 3:48467354-48467355
2 TREX1 NM_033629.6(TREX1):c.581del (p.Ser194fs)deletion Pathogenic 617444 3:48508635-48508635 3:48467236-48467236
3 TREX1 NM_033629.6(TREX1):c.508G>T (p.Glu170Ter)SNV Pathogenic 623343 rs768724007 3:48508562-48508562 3:48467163-48467163
4 TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[1] (p.Pro79fs)short repeat Pathogenic 850507 3:48508281-48508288 3:48466882-48466889
5 TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[3] (p.Ser82fs)short repeat Pathogenic 839889 3:48508280-48508281 3:48466881-48466882
6 TREX1 NC_000003.12:g.48466894_48466897CAGC[1]short repeat Pathogenic 915280 3:48508293-48508296 3:48466894-48466897
7 TREX1 NM_033629.6(TREX1):c.602T>A (p.Val201Asp)SNV Pathogenic 4182 rs78408272 3:48508656-48508656 3:48467257-48467257
8 TREX1 NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)SNV Pathogenic 4184 rs78846775 3:48508652-48508652 3:48467253-48467253
9 TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)SNV Pathogenic 4185 rs121908117 3:48508106-48508106 3:48466707-48466707
10 TREX1 NM_033629.6(TREX1):c.58dup (p.Glu20fs)duplication Pathogenic 126390 rs78300695 3:48508110-48508111 3:48466711-48466712
11 TREX1 NM_033629.6(TREX1):c.206_207TG[5] (p.Ala72fs)short repeat Pathogenic 126384 rs74689946 3:48508259-48508260 3:48466860-48466861
12 TREX1 NM_033629.6(TREX1):c.365T>C (p.Val122Ala)SNV Pathogenic 126385 rs79993407 3:48508419-48508419 3:48467020-48467020
13 TREX1 NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)duplication Pathogenic 126386 rs77371662 3:48508419-48508420 3:48467020-48467021
14 TREX1 NM_033629.6(TREX1):c.393_408dup (p.Glu137fs)duplication Pathogenic 126387 rs74876396 3:48508446-48508447 3:48467047-48467048
15 TREX1 NM_033629.6(TREX1):c.500del (p.Ser167fs)deletion Pathogenic 126389 rs76642637 3:48508554-48508554 3:48467155-48467155
16 TREX1 NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup)duplication Pathogenic 126391 rs78379807 3:48508660-48508661 3:48467261-48467262
17 TREX1 NM_033629.6(TREX1):c.625_628dup (p.Trp210fs)duplication Pathogenic 126392 rs78948846 3:48508676-48508677 3:48467277-48467278
18 TREX1 NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)deletion Pathogenic 126393 rs79318303 3:48508913-48508930 3:48467514-48467531
19 TREX1 NM_033629.6(TREX1):c.206_207TG[3] (p.Val71fs)short repeat Pathogenic 209199 rs74689946 3:48508260-48508261 3:48466861-48466862
20 TREX1 NM_033629.6(TREX1):c.629G>A (p.Trp210Ter)SNV Pathogenic 369666 rs184953805 3:48508683-48508683 3:48467284-48467284
21 TREX1 NM_033629.6(TREX1):c.290G>A (p.Arg97His)SNV Pathogenic/Likely pathogenic 225498 rs200773268 3:48508344-48508344 3:48466945-48466945
22 TREX1 NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)SNV Likely pathogenic 209198 rs760838030 3:48508394-48508394 3:48466995-48466995
23 TREX1 NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)SNV Likely pathogenic 4180 rs78218009 3:48508544-48508544 3:48467145-48467145
24 TREX1 NM_016381.5(TREX1):c.764_766dupATG (p.Asp255dup)duplication Likely pathogenic 4181 rs74556809 3:48508650-48508651 3:48467251-48467252
25 TREX1 NM_033629.6(TREX1):c.397del (p.Leu133fs)deletion Likely pathogenic 126388 rs78762691 3:48508447-48508447 3:48467048-48467048
26 TREX1 NM_033629.6(TREX1):c.416del (p.Ala139fs)deletion Likely pathogenic 843202 3:48508470-48508470 3:48467071-48467071
27 TREX1 NM_033629.6(TREX1):c.796G>T (p.Glu266Ter)SNV Likely pathogenic 835524 3:48508850-48508850 3:48467451-48467451
28 TREX1 NM_033629.6(TREX1):c.829A>T (p.Lys277Ter)SNV Likely pathogenic 535846 rs1553820518 3:48508883-48508883 3:48467484-48467484
29 TREX1 NC_000003.12:g.48467718_48467735deldeletion Likely pathogenic 692082 3:48509117-48509134 3:48467718-48467735
30 TREX1 NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)SNV Likely pathogenic 801965 3:48508236-48508236 3:48466837-48466837
31 TREX1 NM_033629.6(TREX1):c.388G>A (p.Asp130Asn)SNV Likely pathogenic 816849 3:48508442-48508442 3:48467043-48467043
32 TREX1 NM_033629.6(TREX1):c.346C>G (p.Pro116Ala)SNV Conflicting interpretations of pathogenicity 809480 3:48508400-48508400 3:48467001-48467001
33 TREX1 NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)SNV Conflicting interpretations of pathogenicity 522920 rs755919767 3:48508272-48508272 3:48466873-48466873
34 TREX1 NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)SNV Conflicting interpretations of pathogenicity 586841 rs72556555 3:48508774-48508774 3:48467375-48467375
35 TREX1 NM_033629.6(TREX1):c.219G>A (p.Pro73=)SNV Conflicting interpretations of pathogenicity 448703 rs778992418 3:48508273-48508273 3:48466874-48466874
36 TREX1 NM_033629.6(TREX1):c.-26-1G>ASNV Conflicting interpretations of pathogenicity 632417 rs749323787 3:48508028-48508028 3:48466629-48466629
37 TREX1 NM_033629.6(TREX1):c.473C>T (p.Ala158Val)SNV Conflicting interpretations of pathogenicity 902141 3:48508527-48508527 3:48467128-48467128
38 TREX1 NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)SNV Conflicting interpretations of pathogenicity 96242 rs55999987 3:48508851-48508851 3:48467452-48467452
39 TREX1 NM_033629.6(TREX1):c.341G>A (p.Arg114His)SNV Conflicting interpretations of pathogenicity 4179 rs72556554 3:48508395-48508395 3:48466996-48466996
40 TREX1 NM_033629.6(TREX1):c.649C>T (p.Arg217Trp)SNV Conflicting interpretations of pathogenicity 903021 3:48508703-48508703 3:48467304-48467304
41 TREX1 NM_033629.6(TREX1):c.294dup (p.Cys99fs)duplication Conflicting interpretations of pathogenicity 225499 rs760594164 3:48508346-48508347 3:48466947-48466948
42 TREX1 NM_033629.6(TREX1):c.9G>A (p.Ser3=)SNV Conflicting interpretations of pathogenicity 345772 rs762687506 3:48508063-48508063 3:48466664-48466664
43 TREX1 NM_033629.6(TREX1):c.651G>A (p.Arg217=)SNV Conflicting interpretations of pathogenicity 739289 3:48508705-48508705 3:48467306-48467306
44 TREX1 NM_033629.6(TREX1):c.183G>A (p.Pro61=)SNV Conflicting interpretations of pathogenicity 345773 rs55852466 3:48508237-48508237 3:48466838-48466838
45 TREX1 NM_033629.6(TREX1):c.312G>C (p.Leu104=)SNV Conflicting interpretations of pathogenicity 345775 rs56162833 3:48508366-48508366 3:48466967-48466967
46 TREX1 NM_033629.6(TREX1):c.418A>G (p.Met140Val)SNV Uncertain significance 345777 rs761526437 3:48508472-48508472 3:48467073-48467073
47 TREX1 NM_033629.6(TREX1):c.923C>G (p.Ser308Cys)SNV Uncertain significance 374471 rs769885715 3:48508977-48508977 3:48467578-48467578
48 TREX1 NM_033629.6(TREX1):c.536T>C (p.Leu179Pro)SNV Uncertain significance 345779 rs886058625 3:48508590-48508590 3:48467191-48467191
49 TREX1 NM_033629.6(TREX1):c.-100C>TSNV Uncertain significance 345768 rs886058623 3:48507635-48507635 3:48466236-48466236
50 TREX1 NM_033629.6(TREX1):c.907A>C (p.Thr303Pro)SNV Uncertain significance 126394 rs76224909 3:48508961-48508961 3:48467562-48467562

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

73
# 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
11.23 TREX1 ATRIP

GO Terms for Aicardi-Goutieres Syndrome 1

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

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.16 TREX1 ATRIP
2 DNA replication GO:0006260 8.96 TREX1 ATRIP
3 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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