AGS1
MCID: ACR116
MIFTS: 44

Aicardi-Goutieres Syndrome 1 (AGS1)

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 1

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 1:

Name: Aicardi-Goutieres Syndrome 1 57 75 73
Pseudotoxoplasmosis Syndrome 57 54 75
Cree Encephalitis 57 54 75
Ags1 57 53 75
Aicardi-Goutieres Syndrome 1, Dominant and Recessive 57 13
Aicardi Goutieres Syndrome 1 29 6
Pseudo-Torch Syndrome 75 73
Encephalopathy, Familial Infantile, with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 57
Encephalopathy Familial Infantile with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis 75
Aicardi-Goutieres Syndrome, Type 1, Dominant and Recessive 40
Autosomal Dominant Aicardi-Goutieres Syndrome 75
Trex1-Related Aicardi-Goutieres Syndrome 53
Aicardi-Goutieres Syndrome Type 1 53
Aicardi-Goutieres Syndrome 5 73
Ags 57

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 recessive inheritance autosomal dominant inheritance


Classifications:



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 pseudo-torch syndrome 2, and has symptoms including seizures, dry skin and scaly skin. An important gene associated with Aicardi-Goutieres Syndrome 1 is TREX1 (Three Prime Repair Exonuclease 1). The drugs Gemcitabine and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and eye, and related phenotypes are nystagmus and seizures

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 : 75 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 3979)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 31.7 SHISA5 TREX1
2 pseudo-torch syndrome 2 12.8
3 macular degeneration, age-related, 1 12.6
4 neuropathy, hereditary, with or without age-related macular degeneration 12.4
5 aging 12.4
6 macular degeneration, age-related, 12 12.3
7 macular degeneration, age-related, 10 12.3
8 age-related hearing loss 12.3
9 premature aging syndrome, penttinen type 12.3
10 macular degeneration, age-related, 2 12.3
11 macular degeneration, age-related, 5 12.3
12 macular degeneration, age-related, 13 12.3
13 macular degeneration, age-related, 7 12.3
14 macular degeneration, age-related, 8 12.2
15 macular degeneration, age-related, 4 12.2
16 macular degeneration, age-related, 9 12.2
17 macular degeneration, age-related, 11 12.2
18 macular degeneration, age-related, 6 12.2
19 macular degeneration, age-related, 14 12.2
20 macular degeneration, age-related, 15 12.2
21 age-related hearing impairment 1 12.2
22 age-related hearing impairment 2 12.1
23 cataract, age-related nuclear 12.1
24 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.1
25 menarche, age at, quantitative trait locus 1 12.0
26 menopause, natural, age at, quantitative trait locus 1 12.0
27 premature aging syndrome, okamoto type 12.0
28 menopause, natural, age at, quantitative trait locus 2 12.0
29 menopause, natural, age at, quantitative trait locus 4 12.0
30 macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance 11.9
31 creases, infra-auricular cutaneous, with tall stature and advanced bone age 11.9
32 menarche, age at, quantitative trait locus 2 11.9
33 menarche, age at, quantitative trait locus 3 11.9
34 dwarfism lethal type advanced bone age 11.9
35 gigantism advanced bone age hoarse cry 11.9
36 marfanoid habitus-inguinal hernia-advanced bone age syndrome 11.9
37 short stature-advanced bone age-early-onset osteoarthritis syndrome 11.9
38 ceroid lipofuscinosis, neuronal, 1 11.8
39 ceroid lipofuscinosis, neuronal, 2 11.7
40 werner syndrome 11.7
41 cataract 28 11.6
42 parkinson disease, late-onset 11.6
43 cataract 6, multiple types 11.6
44 kuhnt-junius degeneration 11.6
45 ceroid lipofuscinosis, neuronal, 5 11.5
46 ceroid lipofuscinosis, neuronal, 6 11.5
47 aicardi-goutieres syndrome 2 11.4
48 aicardi-goutieres syndrome 3 11.4
49 aicardi-goutieres syndrome 4 11.4
50 aicardi-goutieres syndrome 5 11.4

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
dystonia
leukoencephalopathy
abnormal eye movements
visual inattention
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
acrocyanosis of the feet (in some patients)
chilblains
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

Human phenotypes related to Aicardi-Goutieres Syndrome 1:

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

UMLS symptoms related to Aicardi-Goutieres Syndrome 1:


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

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 1

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 2 95058-81-4 60750
2 Immunosuppressive Agents Phase 2
3 Antiviral Agents Phase 2
4 Antibodies Phase 2
5 Antibodies, Monoclonal Phase 2
6 Anti-Infective Agents Phase 2
7 Immunoglobulins Phase 2
8 Antimetabolites Phase 2
9 Antimetabolites, Antineoplastic Phase 2
10 Immunologic Factors Phase 2
11 Hormones Phase 1
12 Hormone Antagonists Phase 1
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of AGS-1C4D4 in Pancreatic Cancer Subjects Previously Treated in Protocol 2008002 Completed NCT01608711 Phase 2
2 A Study of AGS-1C4D4 Given in Combination With Gemcitabine in Subjects With Metastatic Pancreatic Cancer Completed NCT00902291 Phase 2
3 AGS-1C4D4 in Patients With Advanced Hormone Refractory Prostate Cancer Completed NCT00519233 Phase 1 AGS-1C4D4

Search 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:

41
Skin, Brain, Eye, Spinal Cord, Retina, Bone, Heart

Publications for Aicardi-Goutieres Syndrome 1

Articles related to Aicardi-Goutieres Syndrome 1:

# Title Authors Year
1
Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism. ( 12624136 )
2003

Variations for Aicardi-Goutieres Syndrome 1

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

75
# 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

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 1:

6 (show top 50) (show all 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 TREX1 NM_033629.5(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh37 Chromosome 3, 48508395: 48508395
2 TREX1 NM_033629.5(TREX1): c.341G> A (p.Arg114His) single nucleotide variant risk factor rs72556554 GRCh38 Chromosome 3, 48466996: 48466996
3 TREX1 NM_033629.2(TREX1): c.490C> T (p.Arg164Ter) single nucleotide variant Likely pathogenic rs78218009 GRCh37 Chromosome 3, 48508544: 48508544
4 TREX1 NM_033629.2(TREX1): c.490C> T (p.Arg164Ter) single nucleotide variant Likely pathogenic rs78218009 GRCh38 Chromosome 3, 48467145: 48467145
5 TREX1 NM_016381.5(TREX1): c.764_766dupATG (p.Asp255dup) duplication Pathogenic rs74556809 GRCh37 Chromosome 3, 48508653: 48508655
6 TREX1 NM_016381.5(TREX1): c.764_766dupATG (p.Asp255dup) duplication Pathogenic rs74556809 GRCh38 Chromosome 3, 48467254: 48467256
7 TREX1 NM_033629.4(TREX1): c.602T> A (p.Val201Asp) single nucleotide variant Pathogenic rs78408272 GRCh37 Chromosome 3, 48508656: 48508656
8 TREX1 NM_033629.4(TREX1): c.602T> A (p.Val201Asp) single nucleotide variant Pathogenic rs78408272 GRCh38 Chromosome 3, 48467257: 48467257
9 TREX1 NM_033629.4(TREX1): c.598G> A (p.Asp200Asn) single nucleotide variant Pathogenic rs78846775 GRCh37 Chromosome 3, 48508652: 48508652
10 TREX1 NM_033629.4(TREX1): c.598G> A (p.Asp200Asn) single nucleotide variant Pathogenic rs78846775 GRCh38 Chromosome 3, 48467253: 48467253
11 TREX1 NM_033629.4(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 GRCh37 Chromosome 3, 48508106: 48508106
12 TREX1 NM_033629.4(TREX1): c.52G> A (p.Asp18Asn) single nucleotide variant Pathogenic rs121908117 GRCh38 Chromosome 3, 48466707: 48466707
13 TREX1 NM_033629.5(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 GRCh37 Chromosome 3, 48508851: 48508851
14 TREX1 NM_033629.5(TREX1): c.797A> G (p.Glu266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs55999987 GRCh38 Chromosome 3, 48467452: 48467452
15 TREX1 NM_033629.4(TREX1): c.212_213dupTG (p.Ala72Trpfs) duplication Pathogenic rs74689946 GRCh37 Chromosome 3, 48508266: 48508267
16 TREX1 NM_033629.4(TREX1): c.212_213dupTG (p.Ala72Trpfs) duplication Pathogenic rs74689946 GRCh38 Chromosome 3, 48466867: 48466868
17 TREX1 NM_033629.4(TREX1): c.365T> C (p.Val122Ala) single nucleotide variant Pathogenic rs79993407 GRCh37 Chromosome 3, 48508419: 48508419
18 TREX1 NM_033629.4(TREX1): c.365T> C (p.Val122Ala) single nucleotide variant Pathogenic rs79993407 GRCh38 Chromosome 3, 48467020: 48467020
19 TREX1 NM_033629.4(TREX1): c.366_368dupGGC (p.Ala123_His124insAla) duplication Pathogenic rs77371662 GRCh37 Chromosome 3, 48508420: 48508422
20 TREX1 NM_033629.4(TREX1): c.366_368dupGGC (p.Ala123_His124insAla) duplication Pathogenic rs77371662 GRCh38 Chromosome 3, 48467021: 48467023
21 TREX1 NM_033629.4(TREX1): c.393_408dup16 (p.Glu137Profs) duplication Pathogenic rs74876396 GRCh37 Chromosome 3, 48508447: 48508462
22 TREX1 NM_033629.4(TREX1): c.393_408dup16 (p.Glu137Profs) duplication Pathogenic rs74876396 GRCh38 Chromosome 3, 48467048: 48467063
23 TREX1 NM_033629.4(TREX1): c.397delC (p.Leu133Cysfs) deletion Likely pathogenic rs78762691 GRCh37 Chromosome 3, 48508451: 48508451
24 TREX1 NM_033629.4(TREX1): c.397delC (p.Leu133Cysfs) deletion Likely pathogenic rs78762691 GRCh38 Chromosome 3, 48467052: 48467052
25 TREX1 NM_033629.4(TREX1): c.500delG (p.Ser167Thrfs) deletion Pathogenic rs76642637 GRCh37 Chromosome 3, 48508554: 48508554
26 TREX1 NM_033629.4(TREX1): c.500delG (p.Ser167Thrfs) deletion Pathogenic rs76642637 GRCh38 Chromosome 3, 48467155: 48467155
27 TREX1 NM_033629.4(TREX1): c.58dupG (p.Glu20Glyfs) duplication Pathogenic rs78300695 GRCh37 Chromosome 3, 48508112: 48508112
28 TREX1 NM_033629.4(TREX1): c.58dupG (p.Glu20Glyfs) duplication Pathogenic rs78300695 GRCh38 Chromosome 3, 48466713: 48466713
29 TREX1 NM_033629.5(TREX1) duplication Pathogenic rs78379807 GRCh37 Chromosome 3, 48508663: 48508716
30 TREX1 NM_033629.5(TREX1) duplication Pathogenic rs78379807 GRCh38 Chromosome 3, 48467264: 48467317
31 TREX1 NM_033629.4(TREX1): c.625_628dupCAGT (p.Trp210Serfs) duplication Pathogenic rs78948846 GRCh37 Chromosome 3, 48508679: 48508682
32 TREX1 NM_033629.4(TREX1): c.625_628dupCAGT (p.Trp210Serfs) duplication Pathogenic rs78948846 GRCh38 Chromosome 3, 48467280: 48467283
33 TREX1 NM_033629.4(TREX1): c.868_885del18 (p.Pro290_Ala295del) deletion Pathogenic rs79318303 GRCh37 Chromosome 3, 48508922: 48508939
34 TREX1 NM_033629.4(TREX1): c.868_885del18 (p.Pro290_Ala295del) deletion Pathogenic rs79318303 GRCh38 Chromosome 3, 48467523: 48467540
35 TREX1 NM_033629.4(TREX1): c.907A> C (p.Thr303Pro) single nucleotide variant Uncertain significance rs76224909 GRCh37 Chromosome 3, 48508961: 48508961
36 TREX1 NM_033629.4(TREX1): c.907A> C (p.Thr303Pro) single nucleotide variant Uncertain significance rs76224909 GRCh38 Chromosome 3, 48467562: 48467562
37 TREX1 NM_033629.4(TREX1): c.212_213delTG (p.Val71Glyfs) deletion Pathogenic rs797045073 GRCh37 Chromosome 3, 48508266: 48508267
38 TREX1 NM_033629.4(TREX1): c.212_213delTG (p.Val71Glyfs) deletion Pathogenic rs797045073 GRCh38 Chromosome 3, 48466867: 48466868
39 TREX1 NM_033629.4(TREX1): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs760838030 GRCh37 Chromosome 3, 48508394: 48508394
40 TREX1 NM_033629.4(TREX1): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs760838030 GRCh38 Chromosome 3, 48466995: 48466995
41 TREX1 NM_033629.4(TREX1): c.290G> A (p.Arg97His) single nucleotide variant Likely pathogenic rs200773268 GRCh37 Chromosome 3, 48508344: 48508344
42 TREX1 NM_033629.4(TREX1): c.290G> A (p.Arg97His) single nucleotide variant Likely pathogenic rs200773268 GRCh38 Chromosome 3, 48466945: 48466945
43 TREX1 NM_033629.4(TREX1): c.294dupA (p.Cys99Metfs) duplication Conflicting interpretations of pathogenicity rs763966000 GRCh38 Chromosome 3, 48466949: 48466949
44 TREX1 NM_033629.4(TREX1): c.294dupA (p.Cys99Metfs) duplication Conflicting interpretations of pathogenicity rs763966000 GRCh37 Chromosome 3, 48508348: 48508348
45 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh38 Chromosome 3, 48467567: 48467567
46 TREX1 NM_033629.4(TREX1): c.912G> A (p.Leu304=) single nucleotide variant Benign rs3135945 GRCh37 Chromosome 3, 48508966: 48508966
47 TREX1 NM_016381.5(TREX1): c.309dupC (p.Thr104Hisfs) duplication Pathogenic/Likely pathogenic rs748914604 GRCh37 Chromosome 3, 48508198: 48508198
48 TREX1 NM_016381.5(TREX1): c.309dupC (p.Thr104Hisfs) duplication Pathogenic/Likely pathogenic rs748914604 GRCh38 Chromosome 3, 48466799: 48466799
49 TREX1 NM_033629.4(TREX1): c.152_153delAG (p.Gln51Argfs) deletion Pathogenic rs773808155 GRCh37 Chromosome 3, 48508206: 48508207
50 TREX1 NM_033629.4(TREX1): c.152_153delAG (p.Gln51Argfs) deletion Pathogenic rs773808155 GRCh38 Chromosome 3, 48466807: 48466808

Copy number variations for Aicardi-Goutieres Syndrome 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 201393 5 68788118 70388897 Duplication OCLN Pseudo-TORCH syndrome

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 endoplasmic reticulum GO:0005783 9.16 SHISA5 TREX1
2 endoplasmic reticulum membrane GO:0005789 8.96 SHISA5 TREX1
3 nuclear envelope GO:0005635 8.62 SHISA5 TREX1

Sources for Aicardi-Goutieres Syndrome 1

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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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