Aicardi-Goutieres Syndrome 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

AGS7 MCID: ACR084 MIFTS: 29	Aicardi-Goutieres Syndrome 7 (AGS7) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Aicardi-Goutieres Syndrome 7

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 7:

Name: Aicardi-Goutieres Syndrome 7 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Ags7 ⁵⁸ ⁷⁶

Aicardi-Goutieres Syndrome, Type 7 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

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

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Bone diseases Blood diseases Immune diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 615846

MeSH ⁴⁵ D009421 D020274

MedGen ⁴³ C3888244 CN188935

UMLS ⁷⁴ C3888244

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Summaries for Aicardi-Goutieres Syndrome 7

OMIM : ⁵⁸ 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, eye and skin, and related phenotypes are abnormality of eye movement and seizures

UniProtKB/Swiss-Prot : ⁷⁶ 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.

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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	9.7	GCA IFIH1
2	singleton-merten syndrome	9.6	GCA IFIH1
3	aicardi-goutieres syndrome	9.5	GCA IFIH1

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Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 7

Human phenotypes related to Aicardi-Goutieres Syndrome 7:

³³ (show all 23)

#	Description	HPO Frequency	HPO Source Accession
1	abnormality of eye movement ³³	occasional (7.5%)	HP:0000496
2	seizures ³³	occasional (7.5%)	HP:0001250
3	developmental regression ³³	occasional (7.5%)	HP:0002376
4	splenomegaly ³³	occasional (7.5%)	HP:0001744
5	hepatomegaly ³³	occasional (7.5%)	HP:0002240
6	microcephaly ³³	occasional (7.5%)	HP:0000252
7	thrombocytopenia ³³	occasional (7.5%)	HP:0001873
8	nephrotic syndrome ³³	occasional (7.5%)	HP:0000100
9	increased antibody level in blood ³³	occasional (7.5%)	HP:0010702
10	intellectual disability ³³		HP:0001249
11	global developmental delay ³³		HP:0001263
12	irritability ³³		HP:0000737
13	feeding difficulties ³³		HP:0011968
14	absent speech ³³		HP:0001344
15	intrauterine growth retardation ³³		HP:0001511
16	dystonia ³³		HP:0001332
17	vasculitis ³³		HP:0002633
18	generalized hypotonia ³³		HP:0001290
19	spastic tetraparesis ³³		HP:0001285
20	cerebral atrophy ³³		HP:0002059
21	atopic dermatitis ³³		HP:0001047
22	muscular hypotonia of the trunk ³³		HP:0008936
23	basal ganglia calcification ³³		HP:0002135

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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Drugs & Therapeutics for Aicardi-Goutieres Syndrome 7

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

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Genetic Tests for Aicardi-Goutieres Syndrome 7

Genetic tests related to Aicardi-Goutieres Syndrome 7:

#	Genetic test	Affiliating Genes
1	Aicardi-Goutieres Syndrome 7 ³⁰	IFIH1

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Anatomical Context for Aicardi-Goutieres Syndrome 7

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

⁴²

Brain, Eye, Skin, Bone

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Publications for Aicardi-Goutieres Syndrome 7

Articles related to Aicardi-Goutieres Syndrome 7:

#	Title	Authors	Year
1	Aicardi goutières syndrome is associated with pulmonary hypertension. ( 30219631 )	Adang LA...Vanderver AL	2018
2	Aicardi-Goutières syndrome is caused by IFIH1 mutations. ( 24995871 )	Oda H...Heike T	2014
3	Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. ( 25243380 )	Crow YJ...Rice GI	2014
4	Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. ( 24686847 )	Rice GI...Crow YJ	2014

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Genes for Aicardi-Goutieres Syndrome 7

Genes related to Aicardi-Goutieres Syndrome 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IFIH1	Interferon Induced With Helicase C Domain 1	Protein Coding	1330	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	24686847 20301648 30219631 (more) 25243380 24995871
2	GCA	Grancalcin	Protein Coding	8.64	GeneCards inferred via : Variants (show sections)

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Variations for Aicardi-Goutieres Syndrome 7

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

⁷⁶

#	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 150)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	IFIH1	NM_022168.4(IFIH1): c.2159G> A (p.Arg720Gln)	single nucleotide variant	Pathogenic	rs587777445	GRCh37	Chromosome 2, 163133342: 163133342
2	IFIH1	NM_022168.4(IFIH1): c.2159G> A (p.Arg720Gln)	single nucleotide variant	Pathogenic	rs587777445	GRCh38	Chromosome 2, 162276832: 162276832
3	IFIH1	NM_022168.4(IFIH1): c.2336G> A (p.Arg779His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs587777446	GRCh37	Chromosome 2, 163130423: 163130423
4	IFIH1	NM_022168.4(IFIH1): c.2336G> A (p.Arg779His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs587777446	GRCh38	Chromosome 2, 162273913: 162273913
5	IFIH1	NM_022168.4(IFIH1): c.1009A> G (p.Arg337Gly)	single nucleotide variant	Pathogenic	rs587777447	GRCh37	Chromosome 2, 163144731: 163144731
6	IFIH1	NM_022168.4(IFIH1): c.1009A> G (p.Arg337Gly)	single nucleotide variant	Pathogenic	rs587777447	GRCh38	Chromosome 2, 162288221: 162288221
7	IFIH1	NM_022168.4(IFIH1): c.2335C> T (p.Arg779Cys)	single nucleotide variant	Pathogenic	rs587777448	GRCh37	Chromosome 2, 163130424: 163130424
8	IFIH1	NM_022168.4(IFIH1): c.2335C> T (p.Arg779Cys)	single nucleotide variant	Pathogenic	rs587777448	GRCh38	Chromosome 2, 162273914: 162273914
9	IFIH1	NM_022168.4(IFIH1): c.1483G> A (p.Gly495Arg)	single nucleotide variant	Pathogenic	rs672601336	GRCh38	Chromosome 2, 162281369: 162281369
10	IFIH1	NM_022168.4(IFIH1): c.1483G> A (p.Gly495Arg)	single nucleotide variant	Pathogenic	rs672601336	GRCh37	Chromosome 2, 163137879: 163137879
11	IFIH1	NM_022168.4(IFIH1): c.1178A> T (p.Asp393Val)	single nucleotide variant	Pathogenic	rs587777449	GRCh37	Chromosome 2, 163139004: 163139004
12	IFIH1	NM_022168.4(IFIH1): c.1178A> T (p.Asp393Val)	single nucleotide variant	Pathogenic	rs587777449	GRCh38	Chromosome 2, 162282494: 162282494
13	IFIH1	NM_022168.4(IFIH1): c.1354G> A (p.Ala452Thr)	single nucleotide variant	Pathogenic	rs587777575	GRCh37	Chromosome 2, 163138008: 163138008
14	IFIH1	NM_022168.4(IFIH1): c.1354G> A (p.Ala452Thr)	single nucleotide variant	Pathogenic	rs587777575	GRCh38	Chromosome 2, 162281498: 162281498
15	IFIH1	NM_022168.4(IFIH1): c.1114C> T (p.Leu372Phe)	single nucleotide variant	Pathogenic	rs587777576	GRCh37	Chromosome 2, 163139068: 163139068
16	IFIH1	NM_022168.4(IFIH1): c.1114C> T (p.Leu372Phe)	single nucleotide variant	Pathogenic	rs587777576	GRCh38	Chromosome 2, 162282558: 162282558
17	IFIH1	NM_022168.4(IFIH1): c.1641+1G> C	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35337543	GRCh38	Chromosome 2, 162279995: 162279995
18	IFIH1	NM_022168.4(IFIH1): c.1641+1G> C	single nucleotide variant	Conflicting interpretations of pathogenicity	rs35337543	GRCh37	Chromosome 2, 163136505: 163136505
19	IFIH1	NM_022168.4(IFIH1): c.1166G> A (p.Gly389Glu)	single nucleotide variant	Uncertain significance	rs765985079	GRCh37	Chromosome 2, 163139016: 163139016
20	IFIH1	NM_022168.4(IFIH1): c.1166G> A (p.Gly389Glu)	single nucleotide variant	Uncertain significance	rs765985079	GRCh38	Chromosome 2, 162282506: 162282506
21	IFIH1	NM_022168.4(IFIH1): c.1879G> T (p.Glu627Ter)	single nucleotide variant	Benign/Likely benign	rs35744605	GRCh37	Chromosome 2, 163134090: 163134090
22	IFIH1	NM_022168.4(IFIH1): c.1879G> T (p.Glu627Ter)	single nucleotide variant	Benign/Likely benign	rs35744605	GRCh38	Chromosome 2, 162277580: 162277580
23	IFIH1	NM_022168.3(IFIH1): c.2020_2023delAGAT (p.Arg674Phefs)	deletion	Likely benign	rs569337014	GRCh37	Chromosome 2, 163133946: 163133949
24	IFIH1	NM_022168.3(IFIH1): c.2020_2023delAGAT (p.Arg674Phefs)	deletion	Likely benign	rs569337014	GRCh38	Chromosome 2, 162277436: 162277439
25	IFIH1	NM_022168.4(IFIH1): c.1121G> A (p.Arg374His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145520044	GRCh37	Chromosome 2, 163139061: 163139061
26	IFIH1	NM_022168.4(IFIH1): c.1121G> A (p.Arg374His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145520044	GRCh38	Chromosome 2, 162282551: 162282551
27	IFIH1	NM_022168.4(IFIH1): c.2459G> A (p.Arg820His)	single nucleotide variant	Uncertain significance	rs74162087	GRCh37	Chromosome 2, 163128893: 163128893
28	IFIH1	NM_022168.4(IFIH1): c.2459G> A (p.Arg820His)	single nucleotide variant	Uncertain significance	rs74162087	GRCh38	Chromosome 2, 162272383: 162272383
29	IFIH1	NM_022168.4(IFIH1): c.1312T> C (p.Ser438Pro)	single nucleotide variant	Uncertain significance	rs139714761	GRCh37	Chromosome 2, 163138050: 163138050
30	IFIH1	NM_022168.4(IFIH1): c.1312T> C (p.Ser438Pro)	single nucleotide variant	Uncertain significance	rs139714761	GRCh38	Chromosome 2, 162281540: 162281540
31	IFIH1	NM_022168.4(IFIH1): c.2784C> T (p.His928=)	single nucleotide variant	Benign	rs145187664	GRCh38	Chromosome 2, 162268110: 162268110
32	IFIH1	NM_022168.4(IFIH1): c.2784C> T (p.His928=)	single nucleotide variant	Benign	rs145187664	GRCh37	Chromosome 2, 163124620: 163124620
33	IFIH1	NM_022168.4(IFIH1): c.2767A> G (p.Ile923Val)	single nucleotide variant	Benign	rs35667974	GRCh38	Chromosome 2, 162268127: 162268127
34	IFIH1	NM_022168.4(IFIH1): c.2767A> G (p.Ile923Val)	single nucleotide variant	Benign	rs35667974	GRCh37	Chromosome 2, 163124637: 163124637
35	IFIH1	NM_022168.4(IFIH1): c.2524G> A (p.Glu842Lys)	single nucleotide variant	Uncertain significance	rs79324540	GRCh38	Chromosome 2, 162272318: 162272318
36	IFIH1	NM_022168.4(IFIH1): c.2524G> A (p.Glu842Lys)	single nucleotide variant	Uncertain significance	rs79324540	GRCh37	Chromosome 2, 163128828: 163128828
37	IFIH1	NM_022168.4(IFIH1): c.2196T> C (p.Tyr732=)	single nucleotide variant	Likely benign	rs147175706	GRCh38	Chromosome 2, 162276795: 162276795
38	IFIH1	NM_022168.4(IFIH1): c.2196T> C (p.Tyr732=)	single nucleotide variant	Likely benign	rs147175706	GRCh37	Chromosome 2, 163133305: 163133305
39	IFIH1	NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln)	single nucleotide variant	Uncertain significance	rs367851471	GRCh38	Chromosome 2, 162318078: 162318078
40	IFIH1	NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln)	single nucleotide variant	Uncertain significance	rs367851471	GRCh37	Chromosome 2, 163174588: 163174588
41	IFIH1	NM_022168.4(IFIH1): c.2469C> T (p.Ala823=)	single nucleotide variant	Benign	rs13418718	GRCh38	Chromosome 2, 162272373: 162272373
42	IFIH1	NM_022168.4(IFIH1): c.2469C> T (p.Ala823=)	single nucleotide variant	Benign	rs13418718	GRCh37	Chromosome 2, 163128883: 163128883
43	IFIH1	NM_022168.4(IFIH1): c.2455-7T> A	single nucleotide variant	Benign	rs41399348	GRCh38	Chromosome 2, 162272394: 162272394
44	IFIH1	NM_022168.4(IFIH1): c.2455-7T> A	single nucleotide variant	Benign	rs41399348	GRCh37	Chromosome 2, 163128904: 163128904
45	IFIH1	NM_022168.4(IFIH1): c.2785G> A (p.Val929Ile)	single nucleotide variant	Benign	rs140562355	GRCh37	Chromosome 2, 163124619: 163124619
46	IFIH1	NM_022168.4(IFIH1): c.2785G> A (p.Val929Ile)	single nucleotide variant	Benign	rs140562355	GRCh38	Chromosome 2, 162268109: 162268109
47	IFIH1	NM_022168.4(IFIH1): c.2946C> T (p.Leu982=)	single nucleotide variant	Benign	rs74162089	GRCh38	Chromosome 2, 162267332: 162267332
48	IFIH1	NM_022168.4(IFIH1): c.2946C> T (p.Leu982=)	single nucleotide variant	Benign	rs74162089	GRCh37	Chromosome 2, 163123842: 163123842
49	IFIH1	NM_022168.4(IFIH1): c.2454+6T> C	single nucleotide variant	Benign	rs6748554	GRCh38	Chromosome 2, 162273789: 162273789
50	IFIH1	NM_022168.4(IFIH1): c.2454+6T> C	single nucleotide variant	Benign	rs6748554	GRCh37	Chromosome 2, 163130299: 163130299

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Expression for Aicardi-Goutieres Syndrome 7

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

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Pathways for Aicardi-Goutieres Syndrome 7

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GO Terms for Aicardi-Goutieres Syndrome 7

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Aicardi-Goutieres Syndrome 7 (AGS7)

Aliases & Classifications for Aicardi-Goutieres Syndrome 7

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 7:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Aicardi-Goutieres Syndrome 7

Related Diseases for Aicardi-Goutieres Syndrome 7

Diseases in the Aicardi-Goutieres Syndrome family:

Diseases related to Aicardi-Goutieres Syndrome 7 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 7

Human phenotypes related to Aicardi-Goutieres Syndrome 7:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 7

Genetic Tests for Aicardi-Goutieres Syndrome 7

Genetic tests related to Aicardi-Goutieres Syndrome 7:

Anatomical Context for Aicardi-Goutieres Syndrome 7

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

Publications for Aicardi-Goutieres Syndrome 7

Articles related to Aicardi-Goutieres Syndrome 7:

Genes for Aicardi-Goutieres Syndrome 7

Genes related to Aicardi-Goutieres Syndrome 7 (1 elite genes):

Variations for Aicardi-Goutieres Syndrome 7

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

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 7:

Expression for Aicardi-Goutieres Syndrome 7

Pathways for Aicardi-Goutieres Syndrome 7

GO Terms for Aicardi-Goutieres Syndrome 7

Sources for Aicardi-Goutieres Syndrome 7