AGS7
MCID: ACR084
MIFTS: 28

Aicardi-Goutieres Syndrome 7 (AGS7)

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 7

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 7:

Name: Aicardi-Goutieres Syndrome 7 57 75 29 6 73
Ags7 57 75
Aicardi-Goutieres Syndrome, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
incomplete penetrance
onset in infancy or early childhood


HPO:

32
aicardi-goutieres syndrome 7:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Aicardi-Goutieres Syndrome 7

OMIM : 57 Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1; 147660) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750). (615846)

MalaCards based summary : Aicardi-Goutieres Syndrome 7, also known as ags7, is related to singleton-merten syndrome 1 and singleton-merten syndrome. An important gene associated with Aicardi-Goutieres Syndrome 7 is IFIH1 (Interferon Induced With Helicase C Domain 1). Affiliated tissues include brain, skin and bone, and related phenotypes are abnormality of eye movement and intellectual disability

UniProtKB/Swiss-Prot : 75 Aicardi-Goutieres syndrome 7: 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 7

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

# Related Disease Score Top Affiliating Genes
1 singleton-merten syndrome 1 9.8 GCA IFIH1
2 singleton-merten syndrome 9.8 GCA IFIH1
3 aicardi-goutieres syndrome 9.7 GCA IFIH1

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 7

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dystonia
cerebral atrophy
basal ganglia calcification
mental retardation
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia

Hematology:
thrombocytopenia (in some patients)

Growth Other:
intrauterine growth retardation (iugr)

Abdomen Spleen:
splenomegaly (in some patients)

Head And Neck Eyes:
abnormal ocular movements (in some patients)

Skin Nails Hair Skin:
vasculitis
atopic dermatitis
lack of chilblain lesions

Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
microcephaly (in some patients)

Abdomen Liver:
hepatomegaly (in some patients)

Immunology:
upregulation of alpha-interferon-stimulated genes
autoantibodies (in some patients)
lupus-like syndrome (in some patients)
hyperinflammatory state
increased alpha-interferon activity
more
Genitourinary Kidneys:
nephrotic syndrome (1 patient)


Clinical features from OMIM:

615846

Human phenotypes related to Aicardi-Goutieres Syndrome 7:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 abnormality of eye movement 32 occasional (7.5%) HP:0000496
2 intellectual disability 32 HP:0001249
3 seizures 32 occasional (7.5%) HP:0001250
4 developmental regression 32 occasional (7.5%) HP:0002376
5 global developmental delay 32 HP:0001263
6 splenomegaly 32 occasional (7.5%) HP:0001744
7 hepatomegaly 32 occasional (7.5%) HP:0002240
8 microcephaly 32 occasional (7.5%) HP:0000252
9 irritability 32 HP:0000737
10 feeding difficulties 32 HP:0011968
11 absent speech 32 HP:0001344
12 intrauterine growth retardation 32 HP:0001511
13 dystonia 32 HP:0001332
14 thrombocytopenia 32 occasional (7.5%) HP:0001873
15 nephrotic syndrome 32 occasional (7.5%) HP:0000100
16 vasculitis 32 HP:0002633
17 generalized hypotonia 32 HP:0001290
18 spastic tetraparesis 32 HP:0001285
19 increased antibody level in blood 32 occasional (7.5%) HP:0010702
20 cerebral atrophy 32 HP:0002059
21 atopic dermatitis 32 HP:0001047
22 muscular hypotonia of the trunk 32 HP:0008936
23 basal ganglia calcification 32 HP:0002135

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 7

Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 7

Genetic Tests for Aicardi-Goutieres Syndrome 7

Genetic tests related to Aicardi-Goutieres Syndrome 7:

# Genetic test Affiliating Genes
1 Aicardi-Goutieres Syndrome 7 29 IFIH1

Anatomical Context for Aicardi-Goutieres Syndrome 7

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 7:

41
Brain, Skin, Bone, Eye

Publications for Aicardi-Goutieres Syndrome 7

Variations for Aicardi-Goutieres Syndrome 7

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 7:

75
# Symbol AA change Variation ID SNP ID
1 IFIH1 p.Arg337Gly VAR_071375 rs587777447
2 IFIH1 p.Leu372Phe VAR_071376 rs587777576
3 IFIH1 p.Asp393Val VAR_071377 rs587777449
4 IFIH1 p.Ala452Thr VAR_071378 rs587777575
5 IFIH1 p.Gly495Arg VAR_071379 rs672601336
6 IFIH1 p.Arg720Gln VAR_071380 rs587777445
7 IFIH1 p.Arg779Cys VAR_071381 rs587777448
8 IFIH1 p.Arg779His VAR_071382 rs587777446

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 7:

6 (show top 50) (show all 126)
# Gene Variation Type Significance SNP ID Assembly Location
1 IFIH1 NM_022168.3(IFIH1): c.2159G> A (p.Arg720Gln) single nucleotide variant Pathogenic rs587777445 GRCh37 Chromosome 2, 163133342: 163133342
2 IFIH1 NM_022168.3(IFIH1): c.2159G> A (p.Arg720Gln) single nucleotide variant Pathogenic rs587777445 GRCh38 Chromosome 2, 162276832: 162276832
3 IFIH1 NM_022168.3(IFIH1): c.2336G> A (p.Arg779His) single nucleotide variant Pathogenic/Likely pathogenic rs587777446 GRCh37 Chromosome 2, 163130423: 163130423
4 IFIH1 NM_022168.3(IFIH1): c.2336G> A (p.Arg779His) single nucleotide variant Pathogenic/Likely pathogenic rs587777446 GRCh38 Chromosome 2, 162273913: 162273913
5 IFIH1 NM_022168.3(IFIH1): c.1009A> G (p.Arg337Gly) single nucleotide variant Pathogenic rs587777447 GRCh37 Chromosome 2, 163144731: 163144731
6 IFIH1 NM_022168.3(IFIH1): c.1009A> G (p.Arg337Gly) single nucleotide variant Pathogenic rs587777447 GRCh38 Chromosome 2, 162288221: 162288221
7 IFIH1 NM_022168.3(IFIH1): c.2335C> T (p.Arg779Cys) single nucleotide variant Pathogenic rs587777448 GRCh37 Chromosome 2, 163130424: 163130424
8 IFIH1 NM_022168.3(IFIH1): c.2335C> T (p.Arg779Cys) single nucleotide variant Pathogenic rs587777448 GRCh38 Chromosome 2, 162273914: 162273914
9 IFIH1 NM_022168.3(IFIH1): c.1483G> A (p.Gly495Arg) single nucleotide variant Pathogenic rs672601336 GRCh38 Chromosome 2, 162281369: 162281369
10 IFIH1 NM_022168.3(IFIH1): c.1483G> A (p.Gly495Arg) single nucleotide variant Pathogenic rs672601336 GRCh37 Chromosome 2, 163137879: 163137879
11 IFIH1 NM_022168.3(IFIH1): c.1178A> T (p.Asp393Val) single nucleotide variant Pathogenic rs587777449 GRCh37 Chromosome 2, 163139004: 163139004
12 IFIH1 NM_022168.3(IFIH1): c.1178A> T (p.Asp393Val) single nucleotide variant Pathogenic rs587777449 GRCh38 Chromosome 2, 162282494: 162282494
13 IFIH1 NM_022168.3(IFIH1): c.1354G> A (p.Ala452Thr) single nucleotide variant Pathogenic rs587777575 GRCh37 Chromosome 2, 163138008: 163138008
14 IFIH1 NM_022168.3(IFIH1): c.1354G> A (p.Ala452Thr) single nucleotide variant Pathogenic rs587777575 GRCh38 Chromosome 2, 162281498: 162281498
15 IFIH1 NM_022168.3(IFIH1): c.1114C> T (p.Leu372Phe) single nucleotide variant Pathogenic rs587777576 GRCh37 Chromosome 2, 163139068: 163139068
16 IFIH1 NM_022168.3(IFIH1): c.1114C> T (p.Leu372Phe) single nucleotide variant Pathogenic rs587777576 GRCh38 Chromosome 2, 162282558: 162282558
17 IFIH1 NM_022168.3(IFIH1): c.1641+1G> C single nucleotide variant Conflicting interpretations of pathogenicity rs35337543 GRCh38 Chromosome 2, 162279995: 162279995
18 IFIH1 NM_022168.3(IFIH1): c.1641+1G> C single nucleotide variant Conflicting interpretations of pathogenicity rs35337543 GRCh37 Chromosome 2, 163136505: 163136505
19 IFIH1 NM_022168.3(IFIH1): c.1879G> T (p.Glu627Ter) single nucleotide variant Benign/Likely benign rs35744605 GRCh37 Chromosome 2, 163134090: 163134090
20 IFIH1 NM_022168.3(IFIH1): c.1879G> T (p.Glu627Ter) single nucleotide variant Benign/Likely benign rs35744605 GRCh38 Chromosome 2, 162277580: 162277580
21 IFIH1 NM_022168.3(IFIH1): c.2020_2023delAGAT (p.Arg674Phefs) deletion Likely benign rs569337014 GRCh37 Chromosome 2, 163133946: 163133949
22 IFIH1 NM_022168.3(IFIH1): c.2020_2023delAGAT (p.Arg674Phefs) deletion Likely benign rs569337014 GRCh38 Chromosome 2, 162277436: 162277439
23 IFIH1 NM_022168.3(IFIH1): c.1121G> A (p.Arg374His) single nucleotide variant Conflicting interpretations of pathogenicity rs145520044 GRCh37 Chromosome 2, 163139061: 163139061
24 IFIH1 NM_022168.3(IFIH1): c.1121G> A (p.Arg374His) single nucleotide variant Conflicting interpretations of pathogenicity rs145520044 GRCh38 Chromosome 2, 162282551: 162282551
25 IFIH1 NM_022168.3(IFIH1): c.2459G> A (p.Arg820His) single nucleotide variant Uncertain significance rs74162087 GRCh37 Chromosome 2, 163128893: 163128893
26 IFIH1 NM_022168.3(IFIH1): c.2459G> A (p.Arg820His) single nucleotide variant Uncertain significance rs74162087 GRCh38 Chromosome 2, 162272383: 162272383
27 IFIH1 NM_022168.4(IFIH1): c.1312T> C (p.Ser438Pro) single nucleotide variant Uncertain significance rs139714761 GRCh37 Chromosome 2, 163138050: 163138050
28 IFIH1 NM_022168.4(IFIH1): c.1312T> C (p.Ser438Pro) single nucleotide variant Uncertain significance rs139714761 GRCh38 Chromosome 2, 162281540: 162281540
29 IFIH1 NM_022168.3(IFIH1): c.2784C> T (p.His928=) single nucleotide variant Benign rs145187664 GRCh38 Chromosome 2, 162268110: 162268110
30 IFIH1 NM_022168.3(IFIH1): c.2784C> T (p.His928=) single nucleotide variant Benign rs145187664 GRCh37 Chromosome 2, 163124620: 163124620
31 IFIH1 NM_022168.3(IFIH1): c.2767A> G (p.Ile923Val) single nucleotide variant Benign rs35667974 GRCh38 Chromosome 2, 162268127: 162268127
32 IFIH1 NM_022168.3(IFIH1): c.2767A> G (p.Ile923Val) single nucleotide variant Benign rs35667974 GRCh37 Chromosome 2, 163124637: 163124637
33 IFIH1 NM_022168.3(IFIH1): c.2524G> A (p.Glu842Lys) single nucleotide variant Uncertain significance rs79324540 GRCh38 Chromosome 2, 162272318: 162272318
34 IFIH1 NM_022168.3(IFIH1): c.2524G> A (p.Glu842Lys) single nucleotide variant Uncertain significance rs79324540 GRCh37 Chromosome 2, 163128828: 163128828
35 IFIH1 NM_022168.3(IFIH1): c.2196T> C (p.Tyr732=) single nucleotide variant Likely benign rs147175706 GRCh38 Chromosome 2, 162276795: 162276795
36 IFIH1 NM_022168.3(IFIH1): c.2196T> C (p.Tyr732=) single nucleotide variant Likely benign rs147175706 GRCh37 Chromosome 2, 163133305: 163133305
37 IFIH1 NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln) single nucleotide variant Uncertain significance rs367851471 GRCh38 Chromosome 2, 162318078: 162318078
38 IFIH1 NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln) single nucleotide variant Uncertain significance rs367851471 GRCh37 Chromosome 2, 163174588: 163174588
39 IFIH1 NM_022168.3(IFIH1): c.2469C> T (p.Ala823=) single nucleotide variant Benign rs13418718 GRCh38 Chromosome 2, 162272373: 162272373
40 IFIH1 NM_022168.3(IFIH1): c.2469C> T (p.Ala823=) single nucleotide variant Benign rs13418718 GRCh37 Chromosome 2, 163128883: 163128883
41 IFIH1 NM_022168.3(IFIH1): c.2455-7T> A single nucleotide variant Benign rs41399348 GRCh38 Chromosome 2, 162272394: 162272394
42 IFIH1 NM_022168.3(IFIH1): c.2455-7T> A single nucleotide variant Benign rs41399348 GRCh37 Chromosome 2, 163128904: 163128904
43 IFIH1 NM_022168.3(IFIH1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs140562355 GRCh37 Chromosome 2, 163124619: 163124619
44 IFIH1 NM_022168.3(IFIH1): c.2785G> A (p.Val929Ile) single nucleotide variant Benign rs140562355 GRCh38 Chromosome 2, 162268109: 162268109
45 IFIH1 NM_022168.3(IFIH1): c.2946C> T (p.Leu982=) single nucleotide variant Benign rs74162089 GRCh38 Chromosome 2, 162267332: 162267332
46 IFIH1 NM_022168.3(IFIH1): c.2946C> T (p.Leu982=) single nucleotide variant Benign rs74162089 GRCh37 Chromosome 2, 163123842: 163123842
47 IFIH1 NM_022168.3(IFIH1): c.2454+6T> C single nucleotide variant Benign rs6748554 GRCh38 Chromosome 2, 162273789: 162273789
48 IFIH1 NM_022168.3(IFIH1): c.2454+6T> C single nucleotide variant Benign rs6748554 GRCh37 Chromosome 2, 163130299: 163130299
49 IFIH1 NM_022168.3(IFIH1): c.418G> A (p.Glu140Lys) single nucleotide variant Uncertain significance rs766508793 GRCh38 Chromosome 2, 162317890: 162317890
50 IFIH1 NM_022168.3(IFIH1): c.418G> A (p.Glu140Lys) single nucleotide variant Uncertain significance rs766508793 GRCh37 Chromosome 2, 163174400: 163174400

Expression for Aicardi-Goutieres Syndrome 7

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 7.

Pathways for Aicardi-Goutieres Syndrome 7

GO Terms for Aicardi-Goutieres Syndrome 7

Sources for Aicardi-Goutieres Syndrome 7

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