AGS6
MCID: ACR081
MIFTS: 32

Aicardi-Goutieres Syndrome 6 (AGS6)

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 6

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 6:

Name: Aicardi-Goutieres Syndrome 6 57 72 29 13 6 70
Pseudo-Torch Syndrome 72 70
Ags6 57 72
Aicardi-Goutieres Syndrome, Type 6 39
Aicardi-Goutieres Syndrome 1 70
Cree Encephalitis 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
onset of symptoms often associated with nonspecific febrile illness
rapidly progressive deterioration (in some patients)


HPO:

31
aicardi-goutieres syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615010
OMIM Phenotypic Series 57 PS225750
UMLS 70 C0796126 C3489725 C3539013

Summaries for Aicardi-Goutieres Syndrome 6

UniProtKB/Swiss-Prot : 72 Aicardi-Goutieres syndrome 6: 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.

MalaCards based summary : Aicardi-Goutieres Syndrome 6, also known as pseudo-torch syndrome, is related to pseudo-torch syndrome 2 and pseudo-torch syndrome 3, and has symptoms including seizures, tremor and muscle rigidity. An important gene associated with Aicardi-Goutieres Syndrome 6 is ADAR (Adenosine Deaminase RNA Specific). Affiliated tissues include kidney, and related phenotypes are nystagmus and cerebral calcification

More information from OMIM: 615010 PS225750

Related Diseases for Aicardi-Goutieres Syndrome 6

Graphical network of the top 20 diseases related to Aicardi-Goutieres Syndrome 6:



Diseases related to Aicardi-Goutieres Syndrome 6

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 6

Human phenotypes related to Aicardi-Goutieres Syndrome 6:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 occasional (7.5%) HP:0000639
2 cerebral calcification 31 occasional (7.5%) HP:0002514
3 developmental regression 31 occasional (7.5%) HP:0002376
4 microcephaly 31 occasional (7.5%) HP:0000252
5 hemolytic anemia 31 occasional (7.5%) HP:0001878
6 leukodystrophy 31 occasional (7.5%) HP:0002415
7 tremor 31 HP:0001337
8 global developmental delay 31 HP:0001263
9 dystonia 31 HP:0001332
10 rigidity 31 HP:0002063
11 loss of ability to walk 31 HP:0006957
12 loss of speech 31 HP:0002371

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
tremor
rigidity
loss of ability to walk
loss of speech
stiffness
more
Head And Neck Head:
microcephaly (in some patients)

Laboratory Abnormalities:
upregulation of alpha-interferon-stimulated genes

Head And Neck Eyes:
nystagmus (in some patients)

Hematology:
hemolytic anemia (in some patients)

Clinical features from OMIM®:

615010 (Updated 20-May-2021)

UMLS symptoms related to Aicardi-Goutieres Syndrome 6:


seizures; tremor; muscle rigidity; muscle spasticity; stiffness; petechiae of skin

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 6

Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 6

Genetic Tests for Aicardi-Goutieres Syndrome 6

Genetic tests related to Aicardi-Goutieres Syndrome 6:

# Genetic test Affiliating Genes
1 Aicardi-Goutieres Syndrome 6 29 ADAR

Anatomical Context for Aicardi-Goutieres Syndrome 6

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 6:

40
Kidney

Publications for Aicardi-Goutieres Syndrome 6

Articles related to Aicardi-Goutieres Syndrome 6:

(show all 22)
# Title Authors PMID Year
1
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. 6 57
25243380 2014
2
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1. 6 57
24262145 2014
3
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. 6 57
23001123 2012
4
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. 6
32996714 2020
5
Four novel mutations of ADAR1 in Chinese patients with dyschromatosis symmetrica hereditaria. 6
29536976 2019
6
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease. 6
28561207 2017
7
Effects of Aicardi-Goutières syndrome mutations predicted from ADAR-RNA structures. 6
27937139 2017
8
A Phenotypic Screen for Functional Mutants of Human Adenosine Deaminase Acting on RNA 1. 6
26372505 2015
9
Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene. 6
25982145 2015
10
Dyschromatosis symmetrica hereditaria. 6
22974014 2013
11
Dyschromatosis symmetrica hereditaria associated with neurological disorders. 6
19017046 2008
12
Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes. 6
18705826 2008
13
Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation. 6
16817193 2006
14
Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. 6
15955093 2005
15
Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria. 6
15724015 2005
16
Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH). 6
15146470 2004
17
Co-occurrence of Aicardi-Goutières syndrome type 6 and dyschromatosis symmetrica hereditaria due to compound heterozygous pathogenic variants in ADAR1: a case series from India. 61
33289110 2020
18
Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene. 61
29221912 2018
19
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016
20
Localization and expression profile of Group I and II Activators of G-protein Signaling in the kidney. 61
25533045 2015
21
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6). 61
24376015 2014
22
Syntheses, structures, and electronic properties of Ba3FeUS6 and Ba3AgUS6. 61
24564267 2014

Variations for Aicardi-Goutieres Syndrome 6

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 6:

6 (show top 50) (show all 202)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAR NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs) Deletion Pathogenic 39462 rs398122898 GRCh37: 1:154574038-154574042
GRCh38: 1:154601562-154601566
2 ADAR NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter) SNV Pathogenic 126560 rs768943773 GRCh37: 1:154571033-154571033
GRCh38: 1:154598557-154598557
3 ADAR NM_001111.5(ADAR):c.3346del (p.Arg1116fs) Deletion Pathogenic 582556 rs1557863734 GRCh37: 1:154557790-154557790
GRCh38: 1:154585314-154585314
4 ADAR NM_001111.5(ADAR):c.2564dup (p.Thr856fs) Duplication Pathogenic 649961 rs1571065237 GRCh37: 1:154562336-154562337
GRCh38: 1:154589860-154589861
5 ADAR NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) Deletion Pathogenic 521470 rs779357448 GRCh37: 1:154562722-154562723
GRCh38: 1:154590246-154590247
6 ADAR NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) Duplication Pathogenic 664624 rs1571046959 GRCh37: 1:154557772-154557773
GRCh38: 1:154585296-154585297
7 ADAR NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser) SNV Pathogenic 915450 GRCh37: 1:154561887-154561887
GRCh38: 1:154589411-154589411
8 ADAR NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) SNV Pathogenic 985814 GRCh37: 1:154558258-154558258
GRCh38: 1:154585782-154585782
9 ADAR NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) SNV Pathogenic 39458 rs398122822 GRCh37: 1:154560601-154560601
GRCh38: 1:154588125-154588125
10 ADAR NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) SNV Pathogenic 39458 rs398122822 GRCh37: 1:154560601-154560601
GRCh38: 1:154588125-154588125
11 ADAR NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) SNV Pathogenic 126395 rs145588689 GRCh37: 1:154574541-154574541
GRCh38: 1:154602065-154602065
12 ADAR NM_001111.5(ADAR):c.2675G>A (p.Arg892His) SNV Pathogenic/Likely pathogenic 39455 rs398122892 GRCh37: 1:154561932-154561932
GRCh38: 1:154589456-154589456
13 ADAR NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) SNV Pathogenic/Likely pathogenic 39456 rs398122893 GRCh37: 1:154562293-154562293
GRCh38: 1:154589817-154589817
14 ADAR NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) SNV Pathogenic/Likely pathogenic 39457 rs398122894 GRCh37: 1:154557799-154557799
GRCh38: 1:154585323-154585323
15 ADAR NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) SNV Pathogenic/Likely pathogenic 39459 rs398122895 GRCh37: 1:154557801-154557801
GRCh38: 1:154585325-154585325
16 ADAR NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) SNV Pathogenic/Likely pathogenic 39460 rs398122896 GRCh37: 1:154560623-154560623
GRCh38: 1:154588147-154588147
17 ADAR NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) SNV Pathogenic/Likely pathogenic 39461 rs398122897 GRCh37: 1:154562286-154562286
GRCh38: 1:154589810-154589810
18 ADAR NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) SNV Likely pathogenic 488463 rs1553207540 GRCh37: 1:154558329-154558329
GRCh38: 1:154585853-154585853
19 ADAR NM_001111.5(ADAR):c.2886-1del Deletion Likely pathogenic 958597 GRCh37: 1:154560735-154560735
GRCh38: 1:154588259-154588259
20 ADAR NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs) Insertion Likely pathogenic 690435 rs1571110158 GRCh37: 1:154574452-154574453
GRCh38: 1:154601976-154601977
21 ADAR NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) SNV Conflicting interpretations of pathogenicity 126395 rs145588689 GRCh37: 1:154574541-154574541
GRCh38: 1:154602065-154602065
22 ADAR NM_001111.5(ADAR):c.2668+6T>C SNV Conflicting interpretations of pathogenicity 292766 rs190881240 GRCh37: 1:154562227-154562227
GRCh38: 1:154589751-154589751
23 ADAR NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) SNV Uncertain significance 565540 rs1203572202 GRCh37: 1:154570883-154570883
GRCh38: 1:154598407-154598407
24 ADAR NM_001111.5(ADAR):c.475C>G (p.His159Asp) SNV Uncertain significance 565996 rs921496664 GRCh37: 1:154574643-154574643
GRCh38: 1:154602167-154602167
25 ADAR NM_001111.5(ADAR):c.665A>T (p.Asn222Ile) SNV Uncertain significance 566260 rs1557887942 GRCh37: 1:154574453-154574453
GRCh38: 1:154601977-154601977
26 ADAR NM_001111.5(ADAR):c.1051C>T (p.Pro351Ser) SNV Uncertain significance 570349 rs1557886901 GRCh37: 1:154574067-154574067
GRCh38: 1:154601591-154601591
27 ADAR NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) SNV Uncertain significance 571932 rs1557869750 GRCh37: 1:154561885-154561885
GRCh38: 1:154589409-154589409
28 ADAR NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) SNV Uncertain significance 292774 rs570647049 GRCh37: 1:154570392-154570392
GRCh38: 1:154597916-154597916
29 ADAR NM_001111.5(ADAR):c.718G>C (p.Asp240His) SNV Uncertain significance 639472 rs1374526080 GRCh37: 1:154574400-154574400
GRCh38: 1:154601924-154601924
30 ADAR NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) SNV Uncertain significance 639802 rs759679549 GRCh37: 1:154573697-154573697
GRCh38: 1:154601221-154601221
31 ADAR NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln) SNV Uncertain significance 640434 rs1571045177 GRCh37: 1:154557464-154557464
GRCh38: 1:154584988-154584988
32 ADAR NM_001111.5(ADAR):c.1824_1826CTT[1] (p.Phe610del) Microsatellite Uncertain significance 640669 rs759833046 GRCh37: 1:154570409-154570411
GRCh38: 1:154597933-154597935
33 ADAR NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) SNV Uncertain significance 641602 rs200242235 GRCh37: 1:154571038-154571038
GRCh38: 1:154598562-154598562
34 ADAR NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala) SNV Uncertain significance 646809 rs1571107810 GRCh37: 1:154573989-154573989
GRCh38: 1:154601513-154601513
35 ADAR NM_001111.5(ADAR):c.415C>G (p.Gln139Glu) SNV Uncertain significance 647145 rs1463382499 GRCh37: 1:154574703-154574703
GRCh38: 1:154602227-154602227
36 ADAR NM_001111.5(ADAR):c.1785+4G>A SNV Uncertain significance 647263 rs1571095587 GRCh37: 1:154570874-154570874
GRCh38: 1:154598398-154598398
37 ADAR NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys) SNV Uncertain significance 649783 rs1571107070 GRCh37: 1:154573805-154573805
GRCh38: 1:154601329-154601329
38 ADAR NM_001111.5(ADAR):c.973A>G (p.Thr325Ala) SNV Uncertain significance 540260 rs771889800 GRCh37: 1:154574145-154574145
GRCh38: 1:154601669-154601669
39 ADAR NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) SNV Uncertain significance 540261 rs986264460 GRCh37: 1:154557379-154557379
GRCh38: 1:154584903-154584903
40 ADAR NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) SNV Uncertain significance 540262 rs762568334 GRCh37: 1:154562353-154562353
GRCh38: 1:154589877-154589877
41 ADAR NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) SNV Uncertain significance 540263 rs200830156 GRCh37: 1:154573575-154573575
GRCh38: 1:154601099-154601099
42 ADAR NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) SNV Uncertain significance 540264 rs1553213121 GRCh37: 1:154574015-154574015
GRCh38: 1:154601539-154601539
43 ADAR NM_001111.5(ADAR):c.943G>T (p.Ala315Ser) SNV Uncertain significance 540265 rs765669048 GRCh37: 1:154574175-154574175
GRCh38: 1:154601699-154601699
44 ADAR NM_001111.5(ADAR):c.547G>A (p.Gly183Ser) SNV Uncertain significance 540266 rs779939725 GRCh37: 1:154574571-154574571
GRCh38: 1:154602095-154602095
45 ADAR NM_001111.5(ADAR):c.594G>A (p.Ala198=) SNV Uncertain significance 473052 rs563756226 GRCh37: 1:154574524-154574524
GRCh38: 1:154602048-154602048
46 ADAR NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly) SNV Uncertain significance 665263 rs374014885 GRCh37: 1:154570931-154570931
GRCh38: 1:154598455-154598455
47 ADAR NM_001111.5(ADAR):c.1042A>G (p.Thr348Ala) SNV Uncertain significance 579742 rs1456341426 GRCh37: 1:154574076-154574076
GRCh38: 1:154601600-154601600
48 ADAR NM_001111.5(ADAR):c.3521G>A (p.Arg1174His) SNV Uncertain significance 580266 rs866441514 GRCh37: 1:154557442-154557442
GRCh38: 1:154584966-154584966
49 ADAR NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr) SNV Uncertain significance 581836 rs761708272 GRCh37: 1:154573716-154573716
GRCh38: 1:154601240-154601240
50 ADAR NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) SNV Uncertain significance 424040 rs1064796761 GRCh37: 1:154557386-154557386
GRCh38: 1:154584910-154584910

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 6:

72
# Symbol AA change Variation ID SNP ID
1 ADAR p.Pro193Ala VAR_069535 rs145588689
2 ADAR p.Ala870Thr VAR_069536 rs398122893
3 ADAR p.Ile872Thr VAR_069537 rs398122897
4 ADAR p.Arg892His VAR_069538 rs398122892
5 ADAR p.Lys999Asn VAR_069539 rs398122896
6 ADAR p.Gly1007Arg VAR_069540 rs398122822
7 ADAR p.Tyr1112Phe VAR_069541 rs398122895
8 ADAR p.Asp1113His VAR_069542 rs398122894

Expression for Aicardi-Goutieres Syndrome 6

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 6.

Pathways for Aicardi-Goutieres Syndrome 6

GO Terms for Aicardi-Goutieres Syndrome 6

Sources for Aicardi-Goutieres Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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