AGS7
MCID: ACR084
MIFTS: 29

Aicardi-Goutieres Syndrome 7 (AGS7)

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 7

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 7:

Name: Aicardi-Goutieres Syndrome 7 56 73 29 6 71
Ags7 56 73
Aicardi-Goutieres Syndrome, Type 7 39

Characteristics:

OMIM:

56
Miscellaneous:
incomplete penetrance
variable severity
onset in infancy or early childhood

Inheritance:
autosomal dominant


HPO:

31
aicardi-goutieres syndrome 7:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



Summaries for Aicardi-Goutieres Syndrome 7

OMIM : 56 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, is also known as ags7. An important gene associated with Aicardi-Goutieres Syndrome 7 is IFIH1 (Interferon Induced With Helicase C Domain 1). Affiliated tissues include brain and eye, and related phenotypes are splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 73 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

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 7

Human phenotypes related to Aicardi-Goutieres Syndrome 7:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 occasional (7.5%) HP:0001744
2 hepatomegaly 31 occasional (7.5%) HP:0002240
3 microcephaly 31 occasional (7.5%) HP:0000252
4 developmental regression 31 occasional (7.5%) HP:0002376
5 thrombocytopenia 31 occasional (7.5%) HP:0001873
6 nephrotic syndrome 31 occasional (7.5%) HP:0000100
7 abnormality of eye movement 31 occasional (7.5%) HP:0000496
8 seizure 31 occasional (7.5%) HP:0001250
9 increased circulating antibody level 31 occasional (7.5%) HP:0010702
10 intellectual disability 31 HP:0001249
11 global developmental delay 31 HP:0001263
12 irritability 31 HP:0000737
13 feeding difficulties 31 HP:0011968
14 absent speech 31 HP:0001344
15 intrauterine growth retardation 31 HP:0001511
16 dystonia 31 HP:0001332
17 vasculitis 31 HP:0002633
18 spastic tetraparesis 31 HP:0001285
19 cerebral atrophy 31 HP:0002059
20 generalized hypotonia 31 HP:0001290
21 muscular hypotonia of the trunk 31 HP:0008936
22 atopic dermatitis 31 HP:0001047
23 basal ganglia calcification 31 HP:0002135

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dystonia
cerebral atrophy
basal ganglia calcification
mental retardation
seizures (in some patients)
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

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:

40
Brain, Eye

Publications for Aicardi-Goutieres Syndrome 7

Articles related to Aicardi-Goutieres Syndrome 7:

# Title Authors PMID Year
1
Aicardi goutières syndrome is associated with pulmonary hypertension. 56 6
30219631 2018
2
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 56 6
25243380 2014
3
Aicardi-Goutières syndrome is caused by IFIH1 mutations. 6 56
24995871 2014
4
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 56 6
24686847 2014
5
Aicardi-Goutières Syndrome 6
20301648 2005
6
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients. 61
32243572 2020
7
An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 61
30965144 2020
8
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene. 61
31698194 2019
9
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016

Variations for Aicardi-Goutieres Syndrome 7

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 7:

6 (show top 50) (show all 189) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFIH1 NM_022168.4(IFIH1):c.2439A>T (p.Glu813Asp)SNV Pathogenic 623488 rs1559810905 2:163130320-163130320 2:162273810-162273810
2 IFIH1 NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)SNV Pathogenic 587512 rs774888783 2:163134742-163134742 2:162278232-162278232
3 IFIH1 NM_022168.4(IFIH1):c.2317G>C (p.Glu773Gln)SNV Pathogenic 812531 2:163130442-163130442 2:162273932-162273932
4 IFIH1 NM_022168.4(IFIH1):c.2156C>T (p.Ala719Val)SNV Pathogenic 812530 2:163133345-163133345 2:162276835-162276835
5 IFIH1 NM_022168.4(IFIH1):c.1747A>G (p.Ile583Val)SNV Pathogenic 812529 2:163134733-163134733 2:162278223-162278223
6 IFIH1 NM_022168.4(IFIH1):c.1465G>A (p.Ala489Thr)SNV Pathogenic 812528 2:163137897-163137897 2:162281387-162281387
7 IFIH1 NM_022168.4(IFIH1):c.1347C>G (p.Asn449Lys)SNV Pathogenic 812527 2:163138015-163138015 2:162281505-162281505
8 IFIH1 NM_022168.4(IFIH1):c.1331A>G (p.Glu444Gly)SNV Pathogenic 812526 2:163138031-163138031 2:162281521-162281521
9 IFIH1 NM_022168.4(IFIH1):c.1178A>C (p.Asp393Ala)SNV Pathogenic 812525 2:163139004-163139004 2:162282494-162282494
10 IFIH1 NM_022168.4(IFIH1):c.1165G>A (p.Gly389Arg)SNV Pathogenic 812524 2:163139017-163139017 2:162282507-162282507
11 IFIH1 NM_022168.4(IFIH1):c.992C>T (p.Thr331Ile)SNV Pathogenic 812523 2:163144748-163144748 2:162288238-162288238
12 IFIH1 NM_022168.4(IFIH1):c.992C>G (p.Thr331Arg)SNV Pathogenic 812522 2:163144748-163144748 2:162288238-162288238
13 IFIH1 NM_022168.4(IFIH1):c.2866A>G (p.Ile956Val)SNV Pathogenic 812540 2:163124021-163124021 2:162267511-162267511
14 IFIH1 NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys)SNV Pathogenic 812539 2:163128791-163128791 2:162272281-162272281
15 IFIH1 NM_022168.4(IFIH1):c.2544T>G (p.Asp848Glu)SNV Pathogenic 812538 2:163128808-163128808 2:162272298-162272298
16 IFIH1 NM_022168.4(IFIH1):c.2486C>G (p.Thr829Ser)SNV Pathogenic 812537 2:163128866-163128866 2:162272356-162272356
17 IFIH1 NM_022168.4(IFIH1):c.2471G>A (p.Arg824Lys)SNV Pathogenic 812536 2:163128881-163128881 2:162272371-162272371
18 IFIH1 NM_022168.4(IFIH1):c.2407A>T (p.Ile803Phe)SNV Pathogenic 812535 2:163130352-163130352 2:162273842-162273842
19 IFIH1 NM_022168.4(IFIH1):c.2404A>G (p.Asn802Asp)SNV Pathogenic 812534 2:163130355-163130355 2:162273845-162273845
20 IFIH1 NM_022168.4(IFIH1):c.2342G>A (p.Gly781Glu)SNV Pathogenic 812533 2:163130417-163130417 2:162273907-162273907
21 IFIH1 NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly)SNV Pathogenic 137623 rs587777447 2:163144731-163144731 2:162288221-162288221
22 IFIH1 NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys)SNV Pathogenic 137624 rs587777448 2:163130424-163130424 2:162273914-162273914
23 IFIH1 NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg)SNV Pathogenic 137625 rs672601336 2:163137879-163137879 2:162281369-162281369
24 IFIH1 NM_022168.4(IFIH1):c.1354G>A (p.Ala452Thr)SNV Pathogenic 140750 rs587777575 2:163138008-163138008 2:162281498-162281498
25 IFIH1 NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe)SNV Pathogenic 140751 rs587777576 2:163139068-163139068 2:162282558-162282558
26 IFIH1 NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)SNV Pathogenic 189338 rs376048533 2:163128887-163128887 2:162272377-162272377
27 IFIH1 NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)SNV Pathogenic 137621 rs587777445 2:163133342-163133342 2:162276832-162276832
28 IFIH1 NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)SNV Pathogenic/Likely pathogenic 137622 rs587777446 2:163130423-163130423 2:162273913-162273913
29 IFIH1 NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)SNV Likely pathogenic 137626 rs587777449 2:163139004-163139004 2:162282494-162282494
30 IFIH1 NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu)SNV Likely pathogenic 812532 2:163130423-163130423 2:162273913-162273913
31 IFIH1 NM_022168.4(IFIH1):c.716dup (p.Met240fs)duplication Likely pathogenic 587596 rs1558875029 2:163163271-163163272 2:162306761-162306762
32 IFIH1 NM_022168.4(IFIH1):c.2936T>G (p.Leu979Trp)SNV Likely pathogenic 541770 rs1553696482 2:163123852-163123852 2:162267342-162267342
33 IFIH1 NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro)SNV Likely pathogenic 577615 rs923064561 2:163144754-163144754 2:162288244-162288244
34 IFIH1 NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn)SNV Likely pathogenic 626276 rs1320095792 2:163137845-163137845 2:162281335-162281335
35 IFIH1 NM_022168.4(IFIH1):c.2016del (p.Asp673fs)deletion Conflicting interpretations of pathogenicity 580488 rs773033563 2:163133953-163133953 2:162277443-162277443
36 IFIH1 NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr)SNV Conflicting interpretations of pathogenicity 541788 rs148369169 2:163130397-163130397 2:162273887-162273887
37 IFIH1 NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr)SNV Conflicting interpretations of pathogenicity 541784 rs150317197 2:163144674-163144674 2:162288164-162288164
38 IFIH1 NM_022168.4(IFIH1):c.1121G>A (p.Arg374His)SNV Conflicting interpretations of pathogenicity 425215 rs145520044 2:163139061-163139061 2:162282551-162282551
39 IFIH1 NM_022168.4(IFIH1):c.2919G>C (p.Val973=)SNV Conflicting interpretations of pathogenicity 435492 rs376116707 2:163123869-163123869 2:162267359-162267359
40 IFIH1 NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro)SNV Conflicting interpretations of pathogenicity 445430 rs139714761 2:163138050-163138050 2:162281540-162281540
41 IFIH1 NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)SNV Conflicting interpretations of pathogenicity 474952 rs79324540 2:163128828-163128828 2:162272318-162272318
42 IFIH1 NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp)SNV Conflicting interpretations of pathogenicity 625959 rs74162075 2:163167419-163167419 2:162310909-162310909
43 IFIH1 NM_022168.4(IFIH1):c.906G>A (p.Pro302=)SNV Conflicting interpretations of pathogenicity 705357 2:163144834-163144834 2:162288324-162288324
44 IFIH1 NM_022168.4(IFIH1):c.1641+1G>CSNV Conflicting interpretations of pathogenicity 261563 rs35337543 2:163136505-163136505 2:162279995-162279995
45 IFIH1 NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu)SNV Uncertain significance 291088 rs765985079 2:163139016-163139016 2:162282506-162282506
46 IFIH1 NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser)SNV Uncertain significance 625960 rs781431529 2:163167440-163167440 2:162310930-162310930
47 IFIH1 NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr)SNV Uncertain significance 626113 rs748198655 2:163123868-163123868 2:162267358-162267358
48 IFIH1 NM_022168.4(IFIH1):c.2733T>C (p.Ser911=)SNV Uncertain significance 626114 rs767453829 2:163124671-163124671 2:162268161-162268161
49 IFIH1 NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs)deletion Uncertain significance 626112 rs766039450 2:163134172-163134182 2:162277662-162277672
50 IFIH1 NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile)SNV Uncertain significance 626115 rs765060493 2:163134779-163134779 2:162278269-162278269

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

73
# 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

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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