MCID: ACR088
MIFTS: 34

Aicardi-Goutieres Syndrome 3

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 3

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 3:

Name: Aicardi-Goutieres Syndrome 3 57 75 13 73
Ags3 57 53 75
Aicardi Goutieres Syndrome 3 29 6
Pseudo-Torch Syndrome 75 73
Rnaseh2c -Related Aicardi-Goutieres Syndrome 53
Aicardi-Goutieres Syndrome, Type 3 40
Aicardi-Goutieres Syndrome Type 3 53
Aicardi-Goutieres Syndrome 1 73
Cree Encephalitis 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early infancy
one patient with normal psychomotor development has been reported


HPO:

32
aicardi-goutieres syndrome 3:
Mortality/Aging death in childhood
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aicardi-Goutieres Syndrome 3

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 3, also known as ags3, is related to aicardi-goutieres syndrome and pseudo-torch syndrome 1, and has symptoms including seizures, petechiae of skin and muscle spasticity. An important gene associated with Aicardi-Goutieres Syndrome 3 is RNASEH2C (Ribonuclease H2 Subunit C). Affiliated tissues include brain, skin and spinal cord, and related phenotypes are progressive microcephaly and nystagmus

OMIM : 57 Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750). (610329)

UniProtKB/Swiss-Prot : 75 Aicardi-Goutieres syndrome 3: 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.

Related Diseases for Aicardi-Goutieres Syndrome 3

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

# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 30.5 KAT5 RNASEH2C
2 pseudo-torch syndrome 1 12.7
3 pseudo-torch syndrome 2 12.7
4 aicardi-goutieres syndrome 1 12.0
5 aicardi-goutieres syndrome 2 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 3:



Diseases related to Aicardi-Goutieres Syndrome 3

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
roving eye movements
visual inattention

Head And Neck Head:
microcephaly

Skin Nails Hair Skin:
chilblains

Neurologic Central Nervous System:
hyperreflexia
encephalopathy
delayed myelination
intracranial calcifications
thin corpus callosum
more
Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
increased csf alpha-interferon
csf lymphocytosis
increased serum alpha-interferon


Clinical features from OMIM:

610329

Human phenotypes related to Aicardi-Goutieres Syndrome 3:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 nystagmus 32 HP:0000639
3 spasticity 32 HP:0001257
4 generalized hypotonia 32 HP:0001290
5 encephalopathy 32 HP:0001298
6 dystonia 32 HP:0001332
7 hyperreflexia 32 HP:0001347
8 hepatosplenomegaly 32 HP:0001433
9 thrombocytopenia 32 HP:0001873
10 hypoplasia of the corpus callosum 32 HP:0002079
11 cerebral calcification 32 HP:0002514
12 elevated hepatic transaminases 32 HP:0002910
13 severe global developmental delay 32 HP:0011344
14 delayed myelination 32 HP:0012448
15 csf lymphocytic pleiocytosis 32 HP:0200149

UMLS symptoms related to Aicardi-Goutieres Syndrome 3:


seizures, petechiae of skin, muscle spasticity

GenomeRNAi Phenotypes related to Aicardi-Goutieres Syndrome 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-1 9.56 KAT5 RNASEH2C
2 Decreased homologous recombination repair frequency GR00236-A-2 9.56 KAT5 RNASEH2C
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.62 KAT5 RNASEH2C

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 3

Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 3

Genetic Tests for Aicardi-Goutieres Syndrome 3

Genetic tests related to Aicardi-Goutieres Syndrome 3:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 3 29 RNASEH2C

Anatomical Context for Aicardi-Goutieres Syndrome 3

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 3:

41
Brain, Skin, Spinal Cord, Eye

Publications for Aicardi-Goutieres Syndrome 3

Articles related to Aicardi-Goutieres Syndrome 3:

# 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 3

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 3:

75
# Symbol AA change Variation ID SNP ID
1 RNASEH2C p.Arg69Trp VAR_027287 rs78635798
2 RNASEH2C p.Lys143Ile VAR_027288 rs75146158
3 RNASEH2C p.Arg13His VAR_070618 rs75328625
4 RNASEH2C p.Asp39Tyr VAR_070619 rs773527127
5 RNASEH2C p.Pro76Leu VAR_070620 rs76091978
6 RNASEH2C p.Pro138Leu VAR_070621
7 RNASEH2C p.Pro151Ser VAR_070622 rs78464826

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 3:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 RNASEH2C NM_032193.3(RNASEH2C): c.205C> T (p.Arg69Trp) single nucleotide variant Likely pathogenic rs78635798 GRCh37 Chromosome 11, 65487856: 65487856
2 RNASEH2C NM_032193.3(RNASEH2C): c.205C> T (p.Arg69Trp) single nucleotide variant Likely pathogenic rs78635798 GRCh38 Chromosome 11, 65720385: 65720385
3 RNASEH2C NM_032193.3(RNASEH2C): c.428A> T (p.Lys143Ile) single nucleotide variant Pathogenic rs75146158 GRCh37 Chromosome 11, 65487556: 65487556
4 RNASEH2C NM_032193.3(RNASEH2C): c.428A> T (p.Lys143Ile) single nucleotide variant Pathogenic rs75146158 GRCh38 Chromosome 11, 65720085: 65720085
5 RNASEH2C NM_032193.3(RNASEH2C): c.434G> C (p.Arg145Pro) single nucleotide variant Uncertain significance rs774773395 GRCh38 Chromosome 11, 65720079: 65720079
6 RNASEH2C NM_032193.3(RNASEH2C): c.434G> C (p.Arg145Pro) single nucleotide variant Uncertain significance rs774773395 GRCh37 Chromosome 11, 65487550: 65487550
7 RNASEH2C NM_032193.3(RNASEH2C): c.178dupG (p.Glu60Glyfs) duplication Likely pathogenic rs772940104 GRCh38 Chromosome 11, 65720412: 65720412
8 RNASEH2C NM_032193.3(RNASEH2C): c.178dupG (p.Glu60Glyfs) duplication Likely pathogenic rs772940104 GRCh37 Chromosome 11, 65487883: 65487883
9 RNASEH2C NM_032193.3(RNASEH2C): c.-10A> G single nucleotide variant Likely benign rs77371161 GRCh37 Chromosome 11, 65488239: 65488239
10 RNASEH2C NM_032193.3(RNASEH2C): c.-10A> G single nucleotide variant Likely benign rs77371161 GRCh38 Chromosome 11, 65720768: 65720768
11 RNASEH2C NM_032193.3(RNASEH2C): c.468+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs182000627 GRCh37 Chromosome 11, 65487503: 65487503
12 RNASEH2C NM_032193.3(RNASEH2C): c.468+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs182000627 GRCh38 Chromosome 11, 65720032: 65720032
13 RNASEH2C NM_032193.3(RNASEH2C): c.417C> G (p.Gly139=) single nucleotide variant Conflicting interpretations of pathogenicity rs147021687 GRCh37 Chromosome 11, 65487567: 65487567
14 RNASEH2C NM_032193.3(RNASEH2C): c.417C> G (p.Gly139=) single nucleotide variant Conflicting interpretations of pathogenicity rs147021687 GRCh38 Chromosome 11, 65720096: 65720096
15 RNASEH2C NM_032193.3(RNASEH2C): c.268_270delAAG (p.Lys90del) deletion Benign/Likely benign rs141875736 GRCh37 Chromosome 11, 65487791: 65487793
16 RNASEH2C NM_032193.3(RNASEH2C): c.268_270delAAG (p.Lys90del) deletion Benign/Likely benign rs141875736 GRCh38 Chromosome 11, 65720320: 65720322
17 RNASEH2C NM_032193.3(RNASEH2C): c.61T> C (p.Leu21=) single nucleotide variant Conflicting interpretations of pathogenicity rs376140250 GRCh37 Chromosome 11, 65488169: 65488169
18 RNASEH2C NM_032193.3(RNASEH2C): c.61T> C (p.Leu21=) single nucleotide variant Conflicting interpretations of pathogenicity rs376140250 GRCh38 Chromosome 11, 65720698: 65720698
19 RNASEH2C NM_032193.3(RNASEH2C): c.468G> T (p.Ala156=) single nucleotide variant Conflicting interpretations of pathogenicity rs61736590 GRCh37 Chromosome 11, 65487516: 65487516
20 RNASEH2C NM_032193.3(RNASEH2C): c.468G> T (p.Ala156=) single nucleotide variant Conflicting interpretations of pathogenicity rs61736590 GRCh38 Chromosome 11, 65720045: 65720045
21 RNASEH2C NM_032193.3(RNASEH2C): c.115G> T (p.Asp39Tyr) single nucleotide variant Uncertain significance rs773527127 GRCh37 Chromosome 11, 65488115: 65488115
22 RNASEH2C NM_032193.3(RNASEH2C): c.115G> T (p.Asp39Tyr) single nucleotide variant Uncertain significance rs773527127 GRCh38 Chromosome 11, 65720644: 65720644

Expression for Aicardi-Goutieres Syndrome 3

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 3.

Pathways for Aicardi-Goutieres Syndrome 3

GO Terms for Aicardi-Goutieres Syndrome 3

Sources for Aicardi-Goutieres Syndrome 3

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