AGS6
MCID: ACR081
MIFTS: 30

Aicardi-Goutieres Syndrome 6 (AGS6)

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 6

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 6:

Name: Aicardi-Goutieres Syndrome 6 57 75 29 13 6 73
Pseudo-Torch Syndrome 75 73
Ags6 57 75
Aicardi-Goutieres Syndrome, Type 6 40
Aicardi-Goutieres Syndrome 1 73
Cree Encephalitis 75

Characteristics:

OMIM:

57
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:

32
aicardi-goutieres syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aicardi-Goutieres Syndrome 6

UniProtKB/Swiss-Prot : 75 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 1 and pseudo-torch syndrome 2, 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 skin and bone, and related phenotypes are nystagmus and tremor

Description from OMIM: 615010

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
rigidity
loss of speech
loss of ability to walk
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

Human phenotypes related to Aicardi-Goutieres Syndrome 6:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 tremor 32 HP:0001337
3 developmental regression 32 occasional (7.5%) HP:0002376
4 cerebral calcification 32 occasional (7.5%) HP:0002514
5 global developmental delay 32 HP:0001263
6 microcephaly 32 occasional (7.5%) HP:0000252
7 hemolytic anemia 32 occasional (7.5%) HP:0001878
8 dystonia 32 HP:0001332
9 rigidity 32 HP:0002063
10 leukodystrophy 32 occasional (7.5%) HP:0002415
11 loss of speech 32 HP:0002371
12 loss of ability to walk 32 HP:0006957

UMLS symptoms related to Aicardi-Goutieres Syndrome 6:


seizures, tremor, muscle rigidity, stiffness, muscle spasticity, 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:

41
Skin, Bone

Publications for Aicardi-Goutieres Syndrome 6

Articles related to Aicardi-Goutieres Syndrome 6:

# Title Authors Year
1
Extensive intracranial calcification of pseudo-TORCH syndrome with features of Dandy-Walker malformation. ( 28761539 )
2017
2
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. ( 27325888 )
2016
3
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. ( 25207129 )
2013
4
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). ( 12833411 )
2003
5
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. ( 11226724 )
2001

Variations for Aicardi-Goutieres Syndrome 6

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

75
# 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

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 6:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAR NM_001111.4(ADAR): c.2675G> A (p.Arg892His) single nucleotide variant Pathogenic/Likely pathogenic rs398122892 GRCh37 Chromosome 1, 154561932: 154561932
2 ADAR NM_001111.4(ADAR): c.2675G> A (p.Arg892His) single nucleotide variant Pathogenic/Likely pathogenic rs398122892 GRCh38 Chromosome 1, 154589456: 154589456
3 ADAR NM_001111.4(ADAR): c.2608G> A (p.Ala870Thr) single nucleotide variant Pathogenic/Likely pathogenic rs398122893 GRCh37 Chromosome 1, 154562293: 154562293
4 ADAR NM_001111.4(ADAR): c.2608G> A (p.Ala870Thr) single nucleotide variant Pathogenic/Likely pathogenic rs398122893 GRCh38 Chromosome 1, 154589817: 154589817
5 ADAR NM_001111.4(ADAR): c.3337G> C (p.Asp1113His) single nucleotide variant Pathogenic/Likely pathogenic rs398122894 GRCh37 Chromosome 1, 154557799: 154557799
6 ADAR NM_001111.4(ADAR): c.3337G> C (p.Asp1113His) single nucleotide variant Pathogenic/Likely pathogenic rs398122894 GRCh38 Chromosome 1, 154585323: 154585323
7 ADAR NM_001111.4(ADAR): c.3019G> A (p.Gly1007Arg) single nucleotide variant Likely pathogenic rs398122822 GRCh37 Chromosome 1, 154560601: 154560601
8 ADAR NM_001111.4(ADAR): c.3019G> A (p.Gly1007Arg) single nucleotide variant Likely pathogenic rs398122822 GRCh38 Chromosome 1, 154588125: 154588125
9 ADAR NM_001111.4(ADAR): c.3335A> T (p.Tyr1112Phe) single nucleotide variant Pathogenic/Likely pathogenic rs398122895 GRCh37 Chromosome 1, 154557801: 154557801
10 ADAR NM_001111.4(ADAR): c.3335A> T (p.Tyr1112Phe) single nucleotide variant Pathogenic/Likely pathogenic rs398122895 GRCh38 Chromosome 1, 154585325: 154585325
11 ADAR NM_001111.4(ADAR): c.2997G> T (p.Lys999Asn) single nucleotide variant Pathogenic/Likely pathogenic rs398122896 GRCh37 Chromosome 1, 154560623: 154560623
12 ADAR NM_001111.4(ADAR): c.2997G> T (p.Lys999Asn) single nucleotide variant Pathogenic/Likely pathogenic rs398122896 GRCh38 Chromosome 1, 154588147: 154588147
13 ADAR NM_001111.4(ADAR): c.2615T> C (p.Ile872Thr) single nucleotide variant Pathogenic/Likely pathogenic rs398122897 GRCh37 Chromosome 1, 154562286: 154562286
14 ADAR NM_001111.4(ADAR): c.2615T> C (p.Ile872Thr) single nucleotide variant Pathogenic/Likely pathogenic rs398122897 GRCh38 Chromosome 1, 154589810: 154589810
15 ADAR NM_001111.4(ADAR): c.1076_1080delAGCGA (p.Lys359Argfs) deletion Pathogenic rs398122898 GRCh37 Chromosome 1, 154574038: 154574042
16 ADAR NM_001111.4(ADAR): c.1076_1080delAGCGA (p.Lys359Argfs) deletion Pathogenic rs398122898 GRCh38 Chromosome 1, 154601562: 154601566
17 ADAR NM_001111.4(ADAR): c.577C> G (p.Pro193Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145588689 GRCh38 Chromosome 1, 154602065: 154602065
18 ADAR NM_001111.4(ADAR): c.577C> G (p.Pro193Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs145588689 GRCh37 Chromosome 1, 154574541: 154574541
19 ADAR NM_001111.4(ADAR): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs768943773 GRCh37 Chromosome 1, 154571033: 154571033
20 ADAR NM_001111.4(ADAR): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs768943773 GRCh38 Chromosome 1, 154598557: 154598557
21 ADAR NM_001111.4(ADAR): c.1760A> G (p.Tyr587Cys) single nucleotide variant Benign/Likely benign rs17843865 GRCh37 Chromosome 1, 154570903: 154570903
22 ADAR NM_001111.4(ADAR): c.1760A> G (p.Tyr587Cys) single nucleotide variant Benign/Likely benign rs17843865 GRCh38 Chromosome 1, 154598427: 154598427
23 ADAR NM_001111.4(ADAR): c.2553C> T (p.Cys851=) single nucleotide variant Benign/Likely benign rs138927668 GRCh37 Chromosome 1, 154562348: 154562348
24 ADAR NM_001111.4(ADAR): c.2553C> T (p.Cys851=) single nucleotide variant Benign/Likely benign rs138927668 GRCh38 Chromosome 1, 154589872: 154589872
25 ADAR NM_001111.4(ADAR): c.2130dupC (p.Asn711Glnfs) duplication Pathogenic rs886044895 GRCh37 Chromosome 1, 154569421: 154569421
26 ADAR NM_001111.4(ADAR): c.2130dupC (p.Asn711Glnfs) duplication Pathogenic rs886044895 GRCh38 Chromosome 1, 154596945: 154596945
27 ADAR NM_001111.4(ADAR): c.3432C> G (p.Gly1144=) single nucleotide variant Conflicting interpretations of pathogenicity rs568610646 GRCh37 Chromosome 1, 154557704: 154557704
28 ADAR NM_001111.4(ADAR): c.3432C> G (p.Gly1144=) single nucleotide variant Conflicting interpretations of pathogenicity rs568610646 GRCh38 Chromosome 1, 154585228: 154585228
29 ADAR NM_001111.4(ADAR): c.1926T> C (p.His642=) single nucleotide variant Benign/Likely benign rs150171059 GRCh37 Chromosome 1, 154570312: 154570312
30 ADAR NM_001111.4(ADAR): c.1926T> C (p.His642=) single nucleotide variant Benign/Likely benign rs150171059 GRCh38 Chromosome 1, 154597836: 154597836
31 ADAR NM_001111.4(ADAR): c.3523A> C (p.Arg1175=) single nucleotide variant Benign/Likely benign rs146625055 GRCh37 Chromosome 1, 154557440: 154557440
32 ADAR NM_001111.4(ADAR): c.3523A> C (p.Arg1175=) single nucleotide variant Benign/Likely benign rs146625055 GRCh38 Chromosome 1, 154584964: 154584964
33 ADAR NM_001111.4(ADAR): c.772G> A (p.Gly258Arg) single nucleotide variant Likely benign rs201143561 GRCh37 Chromosome 1, 154574346: 154574346
34 ADAR NM_001111.4(ADAR): c.772G> A (p.Gly258Arg) single nucleotide variant Likely benign rs201143561 GRCh38 Chromosome 1, 154601870: 154601870
35 ADAR NM_001111.4(ADAR): c.2668+6T> C single nucleotide variant Benign/Likely benign rs190881240 GRCh37 Chromosome 1, 154562227: 154562227
36 ADAR NM_001111.4(ADAR): c.2668+6T> C single nucleotide variant Benign/Likely benign rs190881240 GRCh38 Chromosome 1, 154589751: 154589751
37 ADAR NM_001111.4(ADAR): c.1846G> A (p.Val616Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs570647049 GRCh37 Chromosome 1, 154570392: 154570392
38 ADAR NM_001111.4(ADAR): c.1846G> A (p.Val616Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs570647049 GRCh38 Chromosome 1, 154597916: 154597916
39 ADAR NM_001111.4(ADAR): c.2079+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs376867928 GRCh37 Chromosome 1, 154569591: 154569591
40 ADAR NM_001111.4(ADAR): c.2079+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs376867928 GRCh38 Chromosome 1, 154597115: 154597115
41 ADAR NM_001111.4(ADAR): c.594G> A (p.Ala198=) single nucleotide variant Uncertain significance rs563756226 GRCh37 Chromosome 1, 154574524: 154574524
42 ADAR NM_001111.4(ADAR): c.594G> A (p.Ala198=) single nucleotide variant Uncertain significance rs563756226 GRCh38 Chromosome 1, 154602048: 154602048
43 ADAR NM_001111.4(ADAR): c.165G> T (p.Pro55=) single nucleotide variant Likely benign rs570176840 GRCh37 Chromosome 1, 154574953: 154574953
44 ADAR NM_001111.4(ADAR): c.165G> T (p.Pro55=) single nucleotide variant Likely benign rs570176840 GRCh38 Chromosome 1, 154602477: 154602477
45 ADAR NM_001111.4(ADAR): c.1125C> T (p.Thr375=) single nucleotide variant Likely benign rs145166589 GRCh37 Chromosome 1, 154573993: 154573993
46 ADAR NM_001111.4(ADAR): c.1125C> T (p.Thr375=) single nucleotide variant Likely benign rs145166589 GRCh38 Chromosome 1, 154601517: 154601517
47 ADAR NM_001111.4(ADAR): c.3215G> T (p.Ser1072Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 154558329: 154558329
48 ADAR NM_001111.4(ADAR): c.3215G> T (p.Ser1072Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 154585853: 154585853
49 ADAR NM_001111.4(ADAR): c.2433_2434delAG (p.Ala813Glnfs) deletion Pathogenic rs779357448 GRCh37 Chromosome 1, 154562722: 154562723
50 ADAR NM_001111.4(ADAR): c.2433_2434delAG (p.Ala813Glnfs) deletion Pathogenic rs779357448 GRCh38 Chromosome 1, 154590246: 154590247

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

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