MCID: ACR092
MIFTS: 32

Aicardi-Goutieres Syndrome 5

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 5

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 5:

Name: Aicardi-Goutieres Syndrome 5 57 75 13 73
Ags5 57 53 75
Aicardi Goutieres Syndrome 5 29 6
Pseudo-Torch Syndrome 75 73
Samhd1-Related Aicardi-Goutieres Syndrome 53
Aicardi-Goutieres Syndrome, Type 5 40
Aicardi-Goutieres Syndrome Type 5 53
Aicardi-Goutieres Syndrome 1 73
Cree Encephalitis 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in utero or at birth
later onset in early childhood may occur


HPO:

32
aicardi-goutieres syndrome 5:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aicardi-Goutieres Syndrome 5

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 5, also known as ags5, 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 5 is SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1). The drugs Antibodies and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include skin, spinal cord and brain, and related phenotypes are microcephaly and irritability

UniProtKB/Swiss-Prot : 75 Aicardi-Goutieres syndrome 5: 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: 612952

Related Diseases for Aicardi-Goutieres Syndrome 5

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 5 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 11.3

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 5

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
irritability
leukoencephalopathy
delayed development
truncal hypotonia
more
Abdomen Gastrointestinal:
poor feeding

Hematology:
thrombocytopenia (less common)

Head And Neck Mouth:
mouth ulcers

Skin Nails Hair Skin:
dry skin
scaly skin
chilblains
chronic inflammatory skin condition

Head And Neck Head:
microcephaly (in some patients)

Laboratory Abnormalities:
increased csf alpha-interferon
csf lymphocytosis (in some patients)

Skeletal:
arthropathy (family a)
contractures (family a)


Clinical features from OMIM:

612952

Human phenotypes related to Aicardi-Goutieres Syndrome 5:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 irritability 32 HP:0000737
3 dry skin 32 HP:0000958
4 spasticity 32 HP:0001257
5 global developmental delay 32 HP:0001263
6 flexion contracture 32 HP:0001371
7 thrombocytopenia 32 HP:0001873
8 basal ganglia calcification 32 HP:0002135
9 leukoencephalopathy 32 HP:0002352
10 leukodystrophy 32 HP:0002415
11 arthropathy 32 HP:0003040
12 deep white matter hypodensities 32 HP:0007321
13 feeding difficulties in infancy 32 HP:0008872
14 muscular hypotonia of the trunk 32 HP:0008936
15 chilblain lesions 32 HP:0009710
16 scaling skin 32 HP:0040189
17 csf lymphocytic pleiocytosis 32 occasional (7.5%) HP:0200149

UMLS symptoms related to Aicardi-Goutieres Syndrome 5:


seizures, petechiae of skin, muscle spasticity, dry skin, scaly skin

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 5

Drugs for Aicardi-Goutieres Syndrome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 1
2 Antibodies, Monoclonal Phase 1
3 Immunoglobulins Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1 Dose Escalation Trial of ASG-5ME in Pancreatic or Gastric Adenocarcinoma Completed NCT01166490 Phase 1 ASG-5ME

Search NIH Clinical Center for Aicardi-Goutieres Syndrome 5

Genetic Tests for Aicardi-Goutieres Syndrome 5

Genetic tests related to Aicardi-Goutieres Syndrome 5:

# Genetic test Affiliating Genes
1 Aicardi Goutieres Syndrome 5 29 SAMHD1

Anatomical Context for Aicardi-Goutieres Syndrome 5

MalaCards organs/tissues related to Aicardi-Goutieres Syndrome 5:

41
Skin, Spinal Cord, Brain

Publications for Aicardi-Goutieres Syndrome 5

Articles related to Aicardi-Goutieres Syndrome 5:

# 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 5

UniProtKB/Swiss-Prot genetic disease variations for Aicardi-Goutieres Syndrome 5:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 SAMHD1 p.His123Pro VAR_058481 rs121434520
2 SAMHD1 p.Arg143Cys VAR_058482 rs387906948
3 SAMHD1 p.Arg143His VAR_058483 rs369035155
4 SAMHD1 p.Arg145Gln VAR_058484 rs515726145
5 SAMHD1 p.Ile201Asn VAR_058485 rs138603088
6 SAMHD1 p.Gly209Ser VAR_058486 rs121434516
7 SAMHD1 p.Met254Val VAR_058487 rs121434521
8 SAMHD1 p.Leu369Ser VAR_058488 rs515726139
9 SAMHD1 p.Met385Val VAR_058489 rs515726140
10 SAMHD1 p.His167Tyr VAR_070633
11 SAMHD1 p.Arg290His VAR_070634 rs559553527
12 SAMHD1 p.Ile448Thr VAR_078240 rs774964432

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 5:

6
(show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 SAMHD1 NM_015474.3(SAMHD1): c.625G> A (p.Gly209Ser) single nucleotide variant Pathogenic rs121434516 GRCh37 Chromosome 20, 35559163: 35559163
2 SAMHD1 NM_015474.3(SAMHD1): c.625G> A (p.Gly209Ser) single nucleotide variant Pathogenic rs121434516 GRCh38 Chromosome 20, 36930760: 36930760
3 SAMHD1 NM_015474.3(SAMHD1): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs121434517 GRCh37 Chromosome 20, 35563508: 35563508
4 SAMHD1 NM_015474.3(SAMHD1): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs121434517 GRCh38 Chromosome 20, 36935105: 36935105
5 SAMHD1 SAMHD1, IVS14AS, G-C, -1 single nucleotide variant Pathogenic
6 SAMHD1 NM_015474.3(SAMHD1): c.490C> T (p.Arg164Ter) single nucleotide variant Pathogenic rs267607027 GRCh37 Chromosome 20, 35563451: 35563451
7 SAMHD1 NM_015474.3(SAMHD1): c.490C> T (p.Arg164Ter) single nucleotide variant Pathogenic rs267607027 GRCh38 Chromosome 20, 36935048: 36935048
8 SAMHD1 NM_015474.3(SAMHD1): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs121434518 GRCh37 Chromosome 20, 35563496: 35563496
9 SAMHD1 NM_015474.3(SAMHD1): c.445C> T (p.Gln149Ter) single nucleotide variant Pathogenic rs121434518 GRCh38 Chromosome 20, 36935093: 36935093
10 SAMHD1 NM_015474.3(SAMHD1): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic rs121434519 GRCh37 Chromosome 20, 35526329: 35526329
11 SAMHD1 NM_015474.3(SAMHD1): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic rs121434519 GRCh38 Chromosome 20, 36897926: 36897926
12 SAMHD1 NM_015474.3(SAMHD1): c.368A> C (p.His123Pro) single nucleotide variant Pathogenic rs121434520 GRCh37 Chromosome 20, 35563573: 35563573
13 SAMHD1 NM_015474.3(SAMHD1): c.368A> C (p.His123Pro) single nucleotide variant Pathogenic rs121434520 GRCh38 Chromosome 20, 36935170: 36935170
14 SAMHD1 NM_015474.3(SAMHD1): c.760A> G (p.Met254Val) single nucleotide variant Pathogenic rs121434521 GRCh37 Chromosome 20, 35547859: 35547859
15 SAMHD1 NM_015474.3(SAMHD1): c.760A> G (p.Met254Val) single nucleotide variant Pathogenic rs121434521 GRCh38 Chromosome 20, 36919456: 36919456
16 SAMHD1 NM_015474.3(SAMHD1): c.-6085_209-1941del8984 deletion Pathogenic GRCh38 Chromosome 20, 36948745: 36957728
17 SAMHD1 NM_015474.3(SAMHD1): c.427C> T (p.Arg143Cys) single nucleotide variant Pathogenic rs387906948 GRCh37 Chromosome 20, 35563514: 35563514
18 SAMHD1 NM_015474.3(SAMHD1): c.427C> T (p.Arg143Cys) single nucleotide variant Pathogenic rs387906948 GRCh38 Chromosome 20, 36935111: 36935111
19 SAMHD1 NM_015474.3(SAMHD1): c.1153A> G (p.Met385Val) single nucleotide variant Pathogenic rs515726140 GRCh37 Chromosome 20, 35540865: 35540865
20 SAMHD1 NM_015474.3(SAMHD1): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs369587937 GRCh37 Chromosome 20, 35533853: 35533853
21 SAMHD1 NM_015474.3: c.(Exons1-13del) deletion Pathogenic
22 SAMHD1 NM_015474.3: c.(Exons12-16del) deletion Pathogenic
23 SAMHD1 NM_015474.3(SAMHD1): c.1106T> C (p.Leu369Ser) single nucleotide variant Pathogenic rs515726139 GRCh37 Chromosome 20, 35540912: 35540912
24 SAMHD1 NM_015474.3(SAMHD1): c.1106T> C (p.Leu369Ser) single nucleotide variant Pathogenic rs515726139 GRCh38 Chromosome 20, 36912509: 36912509
25 SAMHD1 NM_015474.3(SAMHD1): c.1153A> G (p.Met385Val) single nucleotide variant Pathogenic rs515726140 GRCh38 Chromosome 20, 36912462: 36912462
26 SAMHD1 NM_015474.3(SAMHD1): c.1324C> T (p.Arg442Ter) single nucleotide variant Pathogenic rs369587937 GRCh38 Chromosome 20, 36905450: 36905450
27 SAMHD1 NM_015474.3(SAMHD1): c.1411-2A> G single nucleotide variant Pathogenic rs515726141 GRCh38 Chromosome 20, 36904251: 36904251
28 SAMHD1 NM_015474.3(SAMHD1): c.1411-2A> G single nucleotide variant Pathogenic rs515726141 GRCh37 Chromosome 20, 35532654: 35532654
29 SAMHD1 NM_015474.3(SAMHD1): c.1503+1G> T single nucleotide variant Pathogenic rs515726142 GRCh38 Chromosome 20, 36904156: 36904156
30 SAMHD1 NM_015474.3(SAMHD1): c.1503+1G> T single nucleotide variant Pathogenic rs515726142 GRCh37 Chromosome 20, 35532559: 35532559
31 SAMHD1 NM_015474.3(SAMHD1): c.1609-1G> C single nucleotide variant Pathogenic rs515726143 GRCh37 Chromosome 20, 35526363: 35526363
32 SAMHD1 NM_015474.3(SAMHD1): c.1609-1G> C single nucleotide variant Pathogenic rs515726143 GRCh38 Chromosome 20, 36897960: 36897960
33 SAMHD1 NM_015474.3(SAMHD1): c.359_370delATCCTATCCATG (p.Asp120_His123del) deletion Pathogenic rs515726144 GRCh38 Chromosome 20, 36935168: 36935179
34 SAMHD1 NM_015474.3(SAMHD1): c.359_370delATCCTATCCATG (p.Asp120_His123del) deletion Pathogenic rs515726144 GRCh37 Chromosome 20, 35563571: 35563582
35 SAMHD1 NM_015474.3(SAMHD1): c.428G> A (p.Arg143His) single nucleotide variant Pathogenic rs369035155 GRCh37 Chromosome 20, 35563513: 35563513
36 SAMHD1 NM_015474.3(SAMHD1): c.428G> A (p.Arg143His) single nucleotide variant Pathogenic rs369035155 GRCh38 Chromosome 20, 36935110: 36935110
37 SAMHD1 NM_015474.3(SAMHD1): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic rs515726145 GRCh38 Chromosome 20, 36935104: 36935104
38 SAMHD1 NM_015474.3(SAMHD1): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic rs515726145 GRCh37 Chromosome 20, 35563507: 35563507
39 SAMHD1 NM_015474.3(SAMHD1): c.649_650insG (p.Phe217Cysfs) insertion Pathogenic rs515726146 GRCh37 Chromosome 20, 35555631: 35555632
40 SAMHD1 NM_015474.3(SAMHD1): c.649_650insG (p.Phe217Cysfs) insertion Pathogenic rs515726146 GRCh38 Chromosome 20, 36927228: 36927229
41 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Likely benign rs147240777 GRCh37 Chromosome 20, 35579970: 35579970
42 SAMHD1 NM_015474.3(SAMHD1): c.77C> T (p.Pro26Leu) single nucleotide variant Likely benign rs147240777 GRCh38 Chromosome 20, 36951567: 36951567
43 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh37 Chromosome 20, 35526858: 35526858
44 SAMHD1 NM_015474.3(SAMHD1): c.1593G> C (p.Arg531Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs145735112 GRCh38 Chromosome 20, 36898455: 36898455
45 SAMHD1 NM_015474.3(SAMHD1): c.1393C> A (p.Gln465Lys) single nucleotide variant Uncertain significance rs142393072 GRCh37 Chromosome 20, 35533784: 35533784
46 SAMHD1 NM_015474.3(SAMHD1): c.1393C> A (p.Gln465Lys) single nucleotide variant Uncertain significance rs142393072 GRCh38 Chromosome 20, 36905381: 36905381
47 SAMHD1 NM_015474.3(SAMHD1): c.1692C> T (p.Ala564=) single nucleotide variant Benign/Likely benign rs200856791 GRCh37 Chromosome 20, 35526279: 35526279
48 SAMHD1 NM_015474.3(SAMHD1): c.1692C> T (p.Ala564=) single nucleotide variant Benign/Likely benign rs200856791 GRCh38 Chromosome 20, 36897876: 36897876
49 SAMHD1 NM_015474.3(SAMHD1): c.195G> T (p.Leu65=) single nucleotide variant Likely benign rs202024857 GRCh37 Chromosome 20, 35579852: 35579852
50 SAMHD1 NM_015474.3(SAMHD1): c.195G> T (p.Leu65=) single nucleotide variant Likely benign rs202024857 GRCh38 Chromosome 20, 36951449: 36951449

Expression for Aicardi-Goutieres Syndrome 5

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 5.

Pathways for Aicardi-Goutieres Syndrome 5

GO Terms for Aicardi-Goutieres Syndrome 5

Sources for Aicardi-Goutieres Syndrome 5

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