AGS1
MCID: ACR116
MIFTS: 46

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 72 70
Pseudotoxoplasmosis Syndrome 57 53 72 6
Cree Encephalitis 57 53 72
Aicardi-Goutieres Syndrome 1, Dominant and Recessive 57 13
Aicardi Goutieres Syndrome 1 29 6
Pseudo-Torch Syndrome 72 70
Ags1 57 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 72
Aicardi-Goutieres Syndrome, Type 1, Dominant and Recessive 39
Autosomal Dominant Aicardi-Goutieres Syndrome 72
Aicardi-Goutieres Syndrome 5 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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 type 1 interferonopathy, 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). Affiliated tissues include brain, retina and eye, and related phenotypes are splenomegaly and spasticity

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 144)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 30.5 TREX1 SAMHD1 RNASEH2B RNASEH2A ATRIP-TREX1 ATRIP
2 type 1 interferonopathy 30.0 TREX1 SAMHD1
3 basal ganglia calcification 29.0 SAMHD1 RNASEH2B RNASEH2A
4 sting-associated vasculopathy with onset in infancy 28.8 SAMHD1 RNASEH2B RNASEH2A
5 chilblain lupus 1 27.9 TREX1 SAMHD1 RNASEH2B RNASEH2A ATRIP-TREX1 ATRIP
6 vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations 27.9 TREX1 SAMHD1 RNASEH2B RNASEH2A ATRIP-TREX1 ATRIP
7 pseudo-torch syndrome 2 11.8
8 pseudo-torch syndrome 3 11.8
9 aicardi-goutieres syndrome 2 11.3
10 aicardi-goutieres syndrome 3 11.3
11 aicardi-goutieres syndrome 4 11.3
12 aicardi-goutieres syndrome 5 11.3
13 aicardi-goutieres syndrome 6 11.3
14 pseudo-torch syndrome 1 11.3
15 encephalopathy 11.3
16 hoyeraal hreidarsson syndrome 11.2
17 congenital intrauterine infection-like syndrome 11.1
18 aicardi-goutieres syndrome 7 10.9
19 gastric cancer 10.8
20 gastric adenocarcinoma 10.7
21 gastritis 10.4
22 helicobacter pylori infection 10.3
23 b-cell lymphoma 10.3
24 adenocarcinoma 10.2
25 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.2
26 cerebellar hypoplasia 10.2
27 polymicrogyria 10.2
28 spasticity 10.2
29 aging 10.1
30 audiogenic seizures 10.1
31 adrenogenital syndrome 10.1
32 renal cell carcinoma, nonpapillary 10.1
33 peptic ulcer disease 10.1
34 48,xyyy 10.1
35 chronic pain 10.1
36 pertussis 10.0
37 mumps 10.0
38 hydrocephalus 10.0
39 neonatal jaundice 10.0
40 bilirubin metabolic disorder 10.0
41 syphilis 10.0
42 herpes simplex 10.0
43 chickenpox 10.0
44 diabetes insipidus 10.0
45 nasopharyngeal carcinoma 10.0
46 retinoblastoma 10.0
47 rapidly involuting congenital hemangioma 10.0
48 severe combined immunodeficiency 10.0
49 torch syndrome 10.0
50 encephalitis 10.0

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 38)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 occasional (7.5%) HP:0001744
2 spasticity 31 very rare (1%) HP:0001257
3 hypothyroidism 31 very rare (1%) HP:0000821
4 global developmental delay 31 very rare (1%) HP:0001263
5 hepatomegaly 31 very rare (1%) HP:0002240
6 microcephaly 31 very rare (1%) HP:0000252
7 elevated hepatic transaminase 31 very rare (1%) HP:0002910
8 thrombocytopenia 31 very rare (1%) HP:0001873
9 diabetes insipidus 31 very rare (1%) HP:0000873
10 glaucoma 31 very rare (1%) HP:0000501
11 cardiomyopathy 31 very rare (1%) HP:0001638
12 increased csf interferon alpha 31 very rare (1%) HP:0009709
13 chronic csf lymphocytosis 31 very rare (1%) HP:0009704
14 antiphospholipid antibody positivity 31 very rare (1%) HP:0003613
15 cns demyelination 31 very rare (1%) HP:0007305
16 basal ganglia calcification 31 very rare (1%) HP:0002135
17 seizure 31 very rare (1%) HP:0001250
18 chilblains 31 very rare (1%) HP:0009710
19 nystagmus 31 HP:0000639
20 feeding difficulties in infancy 31 HP:0008872
21 fever 31 HP:0001945
22 acrocyanosis 31 HP:0001063
23 strabismus 31 HP:0000486
24 multiple gastric polyps 31 HP:0004394
25 abnormality of extrapyramidal motor function 31 HP:0002071
26 dystonia 31 HP:0001332
27 petechiae 31 HP:0000967
28 prolonged neonatal jaundice 31 HP:0006579
29 leukoencephalopathy 31 HP:0002352
30 poor head control 31 HP:0002421
31 intellectual disability, profound 31 HP:0002187
32 cerebral atrophy 31 HP:0002059
33 hepatosplenomegaly 31 HP:0001433
34 muscular hypotonia of the trunk 31 HP:0008936
35 progressive encephalopathy 31 HP:0002448
36 progressive microcephaly 31 HP:0000253
37 morphological abnormality of the pyramidal tract 31 HP:0002062
38 deep white matter hypodensities 31 HP:0007321

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 1

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
Brain, Retina, Eye, Bone, Lung, Kidney, Cortex

Publications for Aicardi-Goutieres Syndrome 1

Articles related to Aicardi-Goutieres Syndrome 1:

(show top 50) (show all 77)
# Title Authors PMID Year
1
Aicardi goutières syndrome is associated with pulmonary hypertension. 57 6
30219631 2018
2
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 57 6
20799324 2010
3
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 6 57
17846997 2007
4
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 57 6
17660818 2007
5
Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. 57 6
16960810 2006
6
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 6 57
16845398 2006
7
Aicardi-Goutières syndrome (AGS). 61 57
18343173 2008
8
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. 57 61
12624136 2003
9
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome. 57
32877590 2020
10
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. 6
30275001 2018
11
A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans. 6
28229507 2017
12
Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. 6
28089741 2017
13
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. 6
28750028 2017
14
The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome. 6
27604406 2016
15
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
16
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. 6
27604306 2016
17
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
18
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
19
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates. 6
27391121 2016
20
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response. 6
26903602 2016
21
A 44-year-old man with eye, kidney, and brain dysfunction. 6
26691497 2016
22
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. 6
26846091 2016
23
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 6
26182405 2015
24
Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 6
25848017 2015
25
Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release. 57
25769924 2015
26
Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability. 6
25274781 2015
27
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 6
25604658 2015
28
Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. 6
25343331 2014
29
Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing. 6
25138095 2014
30
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 6
25243380 2014
31
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 6
25582466 2014
32
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. 6
24300241 2014
33
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 6
24262145 2014
34
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 6
24183309 2013
35
A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. 6
23989343 2013
36
Heterozygous TREX1 mutations in early-onset cerebrovascular disease. 6
23881107 2013
37
Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. 6
23592335 2013
38
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. 6
23602593 2013
39
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. 6
22829693 2013
40
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 6
23001123 2012
41
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations. 6
22461318 2012
42
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 6
21937424 2011
43
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome. 6
21808053 2011
44
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. 6
21270825 2011
45
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome. 6
21454563 2011
46
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. 6
21204240 2011
47
The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. 6
20871604 2010
48
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. 6
20653736 2010
49
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 6
20131292 2010
50
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. 57
19808788 2009

Variations for Aicardi-Goutieres Syndrome 1

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 1:

6 (show top 50) (show all 193)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.500del (p.Ser167fs) Deletion Pathogenic 126389 rs76642637 GRCh37: 3:48508554-48508554
GRCh38: 3:48467155-48467155
2 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.58dup (p.Glu20fs) Duplication Pathogenic 126390 rs78300695 GRCh37: 3:48508110-48508111
GRCh38: 3:48466711-48466712
3 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) SNV Pathogenic 4184 rs78846775 GRCh37: 3:48508652-48508652
GRCh38: 3:48467253-48467253
4 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup) Duplication Pathogenic 126391 rs78379807 GRCh37: 3:48508660-48508661
GRCh38: 3:48467261-48467262
5 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.625_628dup (p.Trp210fs) Duplication Pathogenic 126392 rs78948846 GRCh37: 3:48508676-48508677
GRCh38: 3:48467277-48467278
6 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.206_207TG[3] (p.Val71fs) Microsatellite Pathogenic 209199 rs74689946 GRCh37: 3:48508260-48508261
GRCh38: 3:48466861-48466862
7 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) SNV Pathogenic 369666 rs184953805 GRCh37: 3:48508683-48508683
GRCh38: 3:48467284-48467284
8 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.581del (p.Ser194fs) Deletion Pathogenic 617444 rs1575293518 GRCh37: 3:48508635-48508635
GRCh38: 3:48467236-48467236
9 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.508G>T (p.Glu170Ter) SNV Pathogenic 623343 rs768724007 GRCh37: 3:48508562-48508562
GRCh38: 3:48467163-48467163
10 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) SNV Pathogenic 4184 rs78846775 GRCh37: 3:48508652-48508652
GRCh38: 3:48467253-48467253
11 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.206_207TG[5] (p.Ala72fs) Microsatellite Pathogenic 126384 rs74689946 GRCh37: 3:48508259-48508260
GRCh38: 3:48466860-48466861
12 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.393_408dup (p.Glu137fs) Duplication Pathogenic 126387 rs74876396 GRCh37: 3:48508446-48508447
GRCh38: 3:48467047-48467048
13 ATRIP , ATRIP-TREX1 , TREX1 NC_000003.12:g.48466894_48466897CAGC[1] Microsatellite Pathogenic 915280 GRCh37: 3:48508293-48508296
GRCh38: 3:48466894-48466897
14 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.602T>A (p.Val201Asp) SNV Pathogenic 4182 rs78408272 GRCh37: 3:48508656-48508656
GRCh38: 3:48467257-48467257
15 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.144dup (p.Thr49fs) Duplication Pathogenic 282766 rs748914604 GRCh37: 3:48508191-48508192
GRCh38: 3:48466792-48466793
16 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) Duplication Pathogenic 4181 rs74556809 GRCh37: 3:48508650-48508651
GRCh38: 3:48467251-48467252
17 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) Duplication Pathogenic 126386 rs77371662 GRCh37: 3:48508419-48508420
GRCh38: 3:48467020-48467021
18 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) Deletion Pathogenic 126393 rs79318303 GRCh37: 3:48508913-48508930
GRCh38: 3:48467514-48467531
19 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.294dup (p.Cys99fs) Duplication Pathogenic 225499 rs760594164 GRCh37: 3:48508346-48508347
GRCh38: 3:48466947-48466948
20 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) Deletion Pathogenic 126393 rs79318303 GRCh37: 3:48508913-48508930
GRCh38: 3:48467514-48467531
21 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.294dup (p.Cys99fs) Duplication Pathogenic 225499 rs760594164 GRCh37: 3:48508346-48508347
GRCh38: 3:48466947-48466948
22 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) Duplication Pathogenic 126386 rs77371662 GRCh37: 3:48508419-48508420
GRCh38: 3:48467020-48467021
23 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.703dup (p.Val235fs) Duplication Pathogenic 449514 rs1553820434 GRCh37: 3:48508753-48508754
GRCh38: 3:48467354-48467355
24 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[3] (p.Ser82fs) Microsatellite Pathogenic 839889 GRCh37: 3:48508280-48508281
GRCh38: 3:48466881-48466882
25 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.23dup (p.Pro10fs) Duplication Pathogenic 953494 GRCh37: 3:48508072-48508073
GRCh38: 3:48466673-48466674
26 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) SNV Pathogenic 4180 rs78218009 GRCh37: 3:48508544-48508544
GRCh38: 3:48467145-48467145
27 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) SNV Pathogenic 4185 rs121908117 GRCh37: 3:48508106-48508106
GRCh38: 3:48466707-48466707
28 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.365T>C (p.Val122Ala) SNV Pathogenic 126385 rs79993407 GRCh37: 3:48508419-48508419
GRCh38: 3:48467020-48467020
29 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) SNV Pathogenic 4185 rs121908117 GRCh37: 3:48508106-48508106
GRCh38: 3:48466707-48466707
30 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.907A>C (p.Thr303Pro) SNV Pathogenic 126394 rs76224909 GRCh37: 3:48508961-48508961
GRCh38: 3:48467562-48467562
31 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.228_235CTGCAGCC[1] (p.Pro79fs) Microsatellite Pathogenic 850507 GRCh37: 3:48508281-48508288
GRCh38: 3:48466882-48466889
32 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) SNV Pathogenic 4185 rs121908117 GRCh37: 3:48508106-48508106
GRCh38: 3:48466707-48466707
33 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.341G>A (p.Arg114His) SNV Pathogenic 4179 rs72556554 GRCh37: 3:48508395-48508395
GRCh38: 3:48466996-48466996
34 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.341G>A (p.Arg114His) SNV Pathogenic/Likely pathogenic 4179 rs72556554 GRCh37: 3:48508395-48508395
GRCh38: 3:48466996-48466996
35 RNASEH2B NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) SNV Pathogenic/Likely pathogenic 1262 rs75184679 GRCh37: 13:51519581-51519581
GRCh38: 13:50945445-50945445
36 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) SNV Likely pathogenic 209198 rs760838030 GRCh37: 3:48508394-48508394
GRCh38: 3:48466995-48466995
37 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.290G>A (p.Arg97His) SNV Likely pathogenic 225498 rs200773268 GRCh37: 3:48508344-48508344
GRCh38: 3:48466945-48466945
38 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.143_144del (p.Pro48fs) Deletion Likely pathogenic 983045 GRCh37: 3:48508192-48508193
GRCh38: 3:48466793-48466794
39 RNASEH2B NM_001142279.2(RNASEH2B):c.698+1G>A SNV Likely pathogenic 448169 rs367915667 GRCh37: 13:51522205-51522205
GRCh38: 13:50948069-50948069
40 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.397del (p.Leu133fs) Deletion Likely pathogenic 126388 rs78762691 GRCh37: 3:48508447-48508447
GRCh38: 3:48467048-48467048
41 TREX1 NC_000003.12:g.48467718_48467735del Deletion Likely pathogenic 692082 rs1575295176 GRCh37: 3:48509117-48509134
GRCh38: 3:48467718-48467735
42 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) SNV Likely pathogenic 801965 rs777034646 GRCh37: 3:48508236-48508236
GRCh38: 3:48466837-48466837
43 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) SNV Likely pathogenic 835524 GRCh37: 3:48508850-48508850
GRCh38: 3:48467451-48467451
44 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.416del (p.Ala139fs) Deletion Likely pathogenic 843202 GRCh37: 3:48508470-48508470
GRCh38: 3:48467071-48467071
45 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) SNV Likely pathogenic 816849 rs781051771 GRCh37: 3:48508442-48508442
GRCh38: 3:48467043-48467043
46 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) SNV Likely pathogenic 535846 rs1553820518 GRCh37: 3:48508883-48508883
GRCh38: 3:48467484-48467484
47 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) SNV Likely pathogenic 209198 rs760838030 GRCh37: 3:48508394-48508394
GRCh38: 3:48466995-48466995
48 SAMHD1 NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) SNV Likely pathogenic 30605 rs138603088 GRCh37: 20:35559186-35559186
GRCh38: 20:36930783-36930783
49 RNASEH2A NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) SNV Likely pathogenic 66068 rs77103971 GRCh37: 19:12921137-12921137
GRCh38: 19:12810323-12810323
50 ATRIP , ATRIP-TREX1 , TREX1 NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) Duplication Likely pathogenic 4181 rs74556809 GRCh37: 3:48508650-48508651
GRCh38: 3:48467251-48467252

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

72
# 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

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 ribonuclease H2 complex GO:0032299 8.62 RNASEH2B RNASEH2A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.67 ATRIP SAMHD1 TREX1
2 DNA repair GO:0006281 9.61 ATRIP SAMHD1 TREX1
3 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 9.48 RNASEH2A RNASEH2B
4 type I interferon signaling pathway GO:0060337 9.46 SAMHD1 TREX1
5 RNA phosphodiester bond hydrolysis GO:0090501 9.4 RNASEH2A SAMHD1
6 mismatch repair GO:0006298 9.37 RNASEH2A TREX1
7 RNA catabolic process GO:0006401 9.32 RNASEH2A RNASEH2B
8 regulation of innate immune response GO:0045088 9.26 SAMHD1 TREX1
9 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.16 SAMHD1 TREX1
10 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.13 ATRIP RNASEH2A TREX1
11 DNA replication GO:0006260 8.92 TREX1 SAMHD1 RNASEH2A ATRIP

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

# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.32 TREX1 RNASEH2A
2 single-stranded DNA binding GO:0003697 9.26 TREX1 SAMHD1
3 exonuclease activity GO:0004527 9.16 TREX1 ATRIP
4 ribonuclease activity GO:0004540 8.96 SAMHD1 RNASEH2A
5 RNA-DNA hybrid ribonuclease activity GO:0004523 8.62 RNASEH2B RNASEH2A

Sources for Aicardi-Goutieres Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
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17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
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32 ICD10
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57 OMIM® (Updated 20-May-2021)
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