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

MCID: ACR084 MIFTS: 26	Aicardi-Goutieres Syndrome 7 Categories: Genetic diseases, Rare diseases, Neuronal diseases, Immune diseases, Bone diseases, Blood diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download 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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615846

MedGen ⁴² C3888244 CN188935

MeSH ⁴⁴ D009421 D020274

UMLS ⁷³ C3888244

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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 and eye, and related phenotypes are nephrotic syndrome and microcephaly

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.

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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	9.3	GCA IFIH1
2	singleton-merten syndrome	9.2	GCA IFIH1
3	aicardi-goutieres syndrome	9.0	GCA IFIH1

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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)

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

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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 ²⁹	IFIH1

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Anatomical Context for Aicardi-Goutieres Syndrome 7

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

⁴¹

Brain, Eye

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Publications for Aicardi-Goutieres Syndrome 7

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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	1354.7	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	24686847 20301648 25243380 (more) 24995871
2	GCA	Grancalcin	Protein Coding	8.39	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:

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 98)

#	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	Benign	rs35337543	GRCh38	Chromosome 2, 162279995: 162279995
18	IFIH1	NM_022168.3(IFIH1): c.1641+1G> C	single nucleotide variant	Benign	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	Likely benign	rs145520044	GRCh37	Chromosome 2, 163139061: 163139061
24	IFIH1	NM_022168.3(IFIH1): c.1121G> A (p.Arg374His)	single nucleotide variant	Likely benign	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_022168.3(IFIH1): c.2784C> T (p.His928=)	single nucleotide variant	Benign	rs145187664	GRCh38	Chromosome 2, 162268110: 162268110
28	IFIH1	NM_022168.3(IFIH1): c.2784C> T (p.His928=)	single nucleotide variant	Benign	rs145187664	GRCh37	Chromosome 2, 163124620: 163124620
29	IFIH1	NM_022168.3(IFIH1): c.2767A> G (p.Ile923Val)	single nucleotide variant	Benign	rs35667974	GRCh37	Chromosome 2, 163124637: 163124637
30	IFIH1	NM_022168.3(IFIH1): c.2767A> G (p.Ile923Val)	single nucleotide variant	Benign	rs35667974	GRCh38	Chromosome 2, 162268127: 162268127
31	IFIH1	NM_022168.3(IFIH1): c.2524G> A (p.Glu842Lys)	single nucleotide variant	Uncertain significance	rs79324540	GRCh38	Chromosome 2, 162272318: 162272318
32	IFIH1	NM_022168.3(IFIH1): c.2524G> A (p.Glu842Lys)	single nucleotide variant	Uncertain significance	rs79324540	GRCh37	Chromosome 2, 163128828: 163128828
33	IFIH1	NM_022168.3(IFIH1): c.2196T> C (p.Tyr732=)	single nucleotide variant	Likely benign	rs147175706	GRCh38	Chromosome 2, 162276795: 162276795
34	IFIH1	NM_022168.3(IFIH1): c.2196T> C (p.Tyr732=)	single nucleotide variant	Likely benign	rs147175706	GRCh37	Chromosome 2, 163133305: 163133305
35	IFIH1	NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln)	single nucleotide variant	Uncertain significance	rs367851471	GRCh38	Chromosome 2, 162318078: 162318078
36	IFIH1	NM_022168.3(IFIH1): c.230G> A (p.Arg77Gln)	single nucleotide variant	Uncertain significance	rs367851471	GRCh37	Chromosome 2, 163174588: 163174588
37	IFIH1	NM_022168.3(IFIH1): c.2469C> T (p.Ala823=)	single nucleotide variant	Benign	rs13418718	GRCh37	Chromosome 2, 163128883: 163128883
38	IFIH1	NM_022168.3(IFIH1): c.2469C> T (p.Ala823=)	single nucleotide variant	Benign	rs13418718	GRCh38	Chromosome 2, 162272373: 162272373
39	IFIH1	NM_022168.3(IFIH1): c.2455-7T> A	single nucleotide variant	Benign	rs41399348	GRCh37	Chromosome 2, 163128904: 163128904
40	IFIH1	NM_022168.3(IFIH1): c.2455-7T> A	single nucleotide variant	Benign	rs41399348	GRCh38	Chromosome 2, 162272394: 162272394
41	IFIH1	NM_022168.3(IFIH1): c.2785G> A (p.Val929Ile)	single nucleotide variant	Benign	rs140562355	GRCh38	Chromosome 2, 162268109: 162268109
42	IFIH1	NM_022168.3(IFIH1): c.2785G> A (p.Val929Ile)	single nucleotide variant	Benign	rs140562355	GRCh37	Chromosome 2, 163124619: 163124619
43	IFIH1	NM_022168.3(IFIH1): c.2946C> T (p.Leu982=)	single nucleotide variant	Benign	rs74162089	GRCh37	Chromosome 2, 163123842: 163123842
44	IFIH1	NM_022168.3(IFIH1): c.2946C> T (p.Leu982=)	single nucleotide variant	Benign	rs74162089	GRCh38	Chromosome 2, 162267332: 162267332
45	IFIH1	NM_022168.3(IFIH1): c.2454+6T> C	single nucleotide variant	Benign	rs6748554	GRCh37	Chromosome 2, 163130299: 163130299
46	IFIH1	NM_022168.3(IFIH1): c.2454+6T> C	single nucleotide variant	Benign	rs6748554	GRCh38	Chromosome 2, 162273789: 162273789
47	IFIH1	NM_022168.3(IFIH1): c.418G> A (p.Glu140Lys)	single nucleotide variant	Uncertain significance	rs766508793	GRCh38	Chromosome 2, 162317890: 162317890
48	IFIH1	NM_022168.3(IFIH1): c.418G> A (p.Glu140Lys)	single nucleotide variant	Uncertain significance	rs766508793	GRCh37	Chromosome 2, 163174400: 163174400
49	IFIH1	NM_022168.3(IFIH1): c.258C> G (p.Thr86=)	single nucleotide variant	Benign	rs143870870	GRCh38	Chromosome 2, 162318050: 162318050
50	IFIH1	NM_022168.3(IFIH1): c.258C> G (p.Thr86=)	single nucleotide variant	Benign	rs143870870	GRCh37	Chromosome 2, 163174560: 163174560

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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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