MCID: ACR090
MIFTS: 30

Aicardi-Goutieres Syndrome 2

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 2

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 2:

Name: Aicardi-Goutieres Syndrome 2 57 75 13 73
Ags2 57 53 75
Aicardi Goutieres Syndrome 2 29 6
Pseudo-Torch Syndrome 75 73
Rnaseh2b-Related Aicardi-Goutieres Syndrome 53
Aicardi-Goutieres Syndrome, Type 2 40
Aicardi-Goutieres Syndrome Type 2 53
Aicardi-Goutieres Syndrome 1 73
Cree Encephalitis 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in the first 2 years of life
progressive or slowly progressive


HPO:

32
aicardi-goutieres syndrome 2:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aicardi-Goutieres Syndrome 2

NIH Rare Diseases : 53 Aicardi-Goutieres syndrome is an inherited disease that mainly affects the brain, immune system, and the skin. Loss of white matter in the brain (leukodystrophy) and abnormal deposits of calcium (calcification) in the brain leads to an early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability.  Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint and muscle stiffness (spasticity), involuntary muscle twisting and contractions (dystonia), and weak muscle tone (hypotonia) in the torso. Other signs and symptoms may include a very small head (microcephaly), presence of white blood cells and other sign of inflammation in the  cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). Symptoms usually progress over several months before the disease course stabilizes.  There are several types of Aicardi-Goutieres syndrome, depending on the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR and IFIH1, genes. Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive. The prognosis depends mainly on the severity neurologic problems and in the age of onset of these problems.

MalaCards based summary : Aicardi-Goutieres Syndrome 2, also known as ags2, is related to pseudo-torch syndrome 1 and pseudo-torch syndrome 2, and has symptoms including seizures, petechiae of skin and muscle spasticity. An important gene associated with Aicardi-Goutieres Syndrome 2 is RNASEH2B (Ribonuclease H2 Subunit B). Affiliated tissues include skin, spinal cord and brain, and related phenotypes are microcephaly and spastic paraplegia

UniProtKB/Swiss-Prot : 75 Aicardi-Goutieres syndrome 2: 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.

Description from OMIM: 610181

Related Diseases for Aicardi-Goutieres Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pseudo-torch syndrome 1 12.7
2 pseudo-torch syndrome 2 12.7
3 aicardi-goutieres syndrome 1 12.0
4 aicardi-goutieres syndrome 11.3
5 aicardi-goutieres syndrome 3 11.1
6 aicardi-goutieres syndrome 4 11.1
7 aicardi-goutieres syndrome 5 11.1
8 aicardi-goutieres syndrome 6 11.1
9 encephalitis 9.9

Graphical network of the top 20 diseases related to Aicardi-Goutieres Syndrome 2:



Diseases related to Aicardi-Goutieres Syndrome 2

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly (in some patients)

Laboratory Abnormalities:
no evidence of common prenatal infections
increased interferon-alpha signal
lymphocytosis in the cerebrospinal fluid

Neurologic Central Nervous System:
dystonia (in some patients)
normal early development
neurologic dysfunction, progressive
spastic paraplegia (in some patients)
encephalopathy (in some patients)
more

Clinical features from OMIM:

610181

Human phenotypes related to Aicardi-Goutieres Syndrome 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 spastic paraplegia 32 occasional (7.5%) HP:0001258
3 encephalopathy 32 HP:0001298
4 dystonia 32 occasional (7.5%) HP:0001332
5 cerebral atrophy 32 HP:0002059
6 basal ganglia calcification 32 HP:0002135
7 chronic csf lymphocytosis 32 HP:0009704

UMLS symptoms related to Aicardi-Goutieres Syndrome 2:


seizures, petechiae of skin, muscle spasticity

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Recognition and Treatment of Dysglycemia. AGS - Acute Glucose Service Recruiting NCT03306810 Not Applicable

Search NIH Clinical Center for Aicardi-Goutieres Syndrome 2

Genetic Tests for Aicardi-Goutieres Syndrome 2

Genetic tests related to Aicardi-Goutieres Syndrome 2:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 2 29 RNASEH2B

Anatomical Context for Aicardi-Goutieres Syndrome 2

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 2:

41
Skin, Spinal Cord, Brain

Publications for Aicardi-Goutieres Syndrome 2

Articles related to Aicardi-Goutieres Syndrome 2:

# 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 2

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 2:

75 (show all 14)
# Symbol AA change Variation ID SNP ID
1 RNASEH2B p.Leu60Arg VAR_027280 rs75325951
2 RNASEH2B p.His86Arg VAR_027281 rs77931005
3 RNASEH2B p.Lys162Thr VAR_027282 rs75971463
4 RNASEH2B p.Thr163Ile VAR_027283 rs79310911
5 RNASEH2B p.Ala177Thr VAR_027284 rs75184679
6 RNASEH2B p.Val185Gly VAR_027285 rs74555752
7 RNASEH2B p.Tyr219His VAR_027286 rs77391331
8 RNASEH2B p.Pro43His VAR_070611 rs79564863
9 RNASEH2B p.Trp73Leu VAR_070612 rs78071087
10 RNASEH2B p.Gly83Ser VAR_070613 rs76158094
11 RNASEH2B p.Leu138Phe VAR_070614 rs78705382
12 RNASEH2B p.Ser159Ile VAR_070615 rs76219783
13 RNASEH2B p.Val183Met VAR_070616 rs77377571
14 RNASEH2B p.Ser229Pro VAR_070617 rs768565639

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 2:

6
(show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 RNASEH2B NM_024570.3(RNASEH2B): c.529G> A (p.Ala177Thr) single nucleotide variant Pathogenic/Likely pathogenic rs75184679 GRCh37 Chromosome 13, 51519581: 51519581
2 RNASEH2B NM_024570.3(RNASEH2B): c.529G> A (p.Ala177Thr) single nucleotide variant Pathogenic/Likely pathogenic rs75184679 GRCh38 Chromosome 13, 50945445: 50945445
3 RNASEH2B NM_001142279.2(RNASEH2B): c.554T> G (p.Val185Gly) single nucleotide variant Pathogenic rs74555752 GRCh37 Chromosome 13, 51519606: 51519606
4 RNASEH2B NM_001142279.2(RNASEH2B): c.554T> G (p.Val185Gly) single nucleotide variant Pathogenic rs74555752 GRCh38 Chromosome 13, 50945470: 50945470
5 RNASEH2B NM_001142279.2(RNASEH2B): c.356A> G (p.Asp119Gly) single nucleotide variant Likely pathogenic rs786205483 GRCh38 Chromosome 13, 50934919: 50934919
6 RNASEH2B NM_001142279.2(RNASEH2B): c.356A> G (p.Asp119Gly) single nucleotide variant Likely pathogenic rs786205483 GRCh37 Chromosome 13, 51509055: 51509055
7 RNASEH2B NM_001142279.2(RNASEH2B): c.509delA (p.Lys170Argfs) deletion Uncertain significance rs1085307091 GRCh38 Chromosome 13, 50943393: 50943393
8 RNASEH2B NM_001142279.2(RNASEH2B): c.509delA (p.Lys170Argfs) deletion Uncertain significance rs1085307091 GRCh37 Chromosome 13, 51517529: 51517529
9 RNASEH2B NM_024570.3(RNASEH2B): c.156G> A (p.Leu52=) single nucleotide variant Benign/Likely benign rs35416748 GRCh37 Chromosome 13, 51503630: 51503630
10 RNASEH2B NM_024570.3(RNASEH2B): c.156G> A (p.Leu52=) single nucleotide variant Benign/Likely benign rs35416748 GRCh38 Chromosome 13, 50929494: 50929494
11 RNASEH2B NM_024570.3(RNASEH2B): c.822+6T> C single nucleotide variant Benign/Likely benign rs76413207 GRCh37 Chromosome 13, 51528127: 51528127
12 RNASEH2B NM_024570.3(RNASEH2B): c.822+6T> C single nucleotide variant Benign/Likely benign rs76413207 GRCh38 Chromosome 13, 50953991: 50953991
13 RNASEH2B NM_024570.3(RNASEH2B): c.455A> G (p.Asn152Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146451037 GRCh37 Chromosome 13, 51517475: 51517475
14 RNASEH2B NM_024570.3(RNASEH2B): c.455A> G (p.Asn152Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146451037 GRCh38 Chromosome 13, 50943339: 50943339
15 RNASEH2B NM_024570.3(RNASEH2B): c.859G> T (p.Ala287Ser) single nucleotide variant Benign/Likely benign rs144408326 GRCh37 Chromosome 13, 51530530: 51530530
16 RNASEH2B NM_024570.3(RNASEH2B): c.859G> T (p.Ala287Ser) single nucleotide variant Benign/Likely benign rs144408326 GRCh38 Chromosome 13, 50956394: 50956394
17 RNASEH2B NM_024570.3(RNASEH2B): c.189A> G (p.Val63=) single nucleotide variant Benign rs35595258 GRCh37 Chromosome 13, 51503663: 51503663
18 RNASEH2B NM_024570.3(RNASEH2B): c.189A> G (p.Val63=) single nucleotide variant Benign rs35595258 GRCh38 Chromosome 13, 50929527: 50929527
19 RNASEH2B NM_024570.3(RNASEH2B): c.269C> T (p.Pro90Leu) single nucleotide variant Uncertain significance rs770203126 GRCh37 Chromosome 13, 51504843: 51504843
20 RNASEH2B NM_024570.3(RNASEH2B): c.269C> T (p.Pro90Leu) single nucleotide variant Uncertain significance rs770203126 GRCh38 Chromosome 13, 50930707: 50930707
21 RNASEH2B NM_024570.3(RNASEH2B): c.667G> T (p.Glu223Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 50948037: 50948037
22 RNASEH2B NM_024570.3(RNASEH2B): c.667G> T (p.Glu223Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 51522173: 51522173
23 RNASEH2B NM_024570.3(RNASEH2B): c.40C> T (p.Arg14Trp) single nucleotide variant Uncertain significance rs900876937 GRCh38 Chromosome 13, 50910116: 50910116
24 RNASEH2B NM_024570.3(RNASEH2B): c.40C> T (p.Arg14Trp) single nucleotide variant Uncertain significance rs900876937 GRCh37 Chromosome 13, 51484252: 51484252

Expression for Aicardi-Goutieres Syndrome 2

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 2.

Pathways for Aicardi-Goutieres Syndrome 2

GO Terms for Aicardi-Goutieres Syndrome 2

Sources for Aicardi-Goutieres Syndrome 2

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74 UMLS via Orphanet
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