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
Genes Variations Tissues 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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 615846

OMIM Phenotypic Series ⁵⁶ PS225750

MeSH ⁴³ D009421 D020274

MedGen ⁴¹ C3888244 CN188935

UMLS ⁷¹ C3888244

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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.

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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

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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

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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:

⁴⁰

Brain, Eye

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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	Adang LA...Vanderver AL	30219631	2018
2	Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. ⁵⁶ ⁶	Crow YJ...Rice GI	25243380	2014
3	Aicardi-Goutières syndrome is caused by IFIH1 mutations. ⁶ ⁵⁶	Oda H...Heike T	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	Rice GI...Crow YJ	24686847	2014
5	Aicardi-Goutières Syndrome ⁶	Crow YJ	20301648	2005
6	Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients. ⁶¹	Genova E...Stocco G	32243572	2020
7	An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. ⁶¹	Amari S...Ito Y	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	Masneri S...Giliani S	31698194	2019
9	Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. ⁶¹	Livingston JH...Crow YJ	27643693	2016

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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	1320.68	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24686847 24995871 25243380 (more) 20301648 30219631

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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>C	SNV	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

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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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Sources for Aicardi-Goutieres Syndrome 7

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⁷⁴ Wikipedia

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:

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

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 7:

UniProtKB/Swiss-Prot 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