AGS5
MCID: ACR092
MIFTS: 34

Aicardi-Goutieres Syndrome 5 (AGS5)

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

Aliases & Classifications for Aicardi-Goutieres Syndrome 5

MalaCards integrated aliases for Aicardi-Goutieres Syndrome 5:

Name: Aicardi-Goutieres Syndrome 5 57 72 13 70
Aicardi Goutieres Syndrome 5 29 6
Pseudo-Torch Syndrome 72 70
Ags5 57 72
Aicardi-Goutieres Syndrome, Type 5 39
Aicardi-Goutieres Syndrome 1 70
Cree Encephalitis 72

Characteristics:

OMIM®:

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

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


HPO:

31
aicardi-goutieres syndrome 5:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Aicardi-Goutieres Syndrome 5

UniProtKB/Swiss-Prot : 72 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.

MalaCards based summary : Aicardi-Goutieres Syndrome 5, also known as aicardi goutieres syndrome 5, is related to aicardi-goutieres syndrome and pseudo-torch syndrome 2, and has symptoms including seizures, dry skin and muscle spasticity. An important gene associated with Aicardi-Goutieres Syndrome 5 is SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1). Affiliated tissues include kidney, and related phenotypes are microcephaly and csf lymphocytic pleiocytosis

More information from OMIM: 612952 PS225750

Related Diseases for Aicardi-Goutieres Syndrome 5

Graphical network of the top 20 diseases related to Aicardi-Goutieres Syndrome 5:



Diseases related to Aicardi-Goutieres Syndrome 5

Symptoms & Phenotypes for Aicardi-Goutieres Syndrome 5

Human phenotypes related to Aicardi-Goutieres Syndrome 5:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 csf lymphocytic pleiocytosis 31 occasional (7.5%) HP:0200149
3 spasticity 31 HP:0001257
4 global developmental delay 31 HP:0001263
5 flexion contracture 31 HP:0001371
6 feeding difficulties in infancy 31 HP:0008872
7 dry skin 31 HP:0000958
8 irritability 31 HP:0000737
9 thrombocytopenia 31 HP:0001873
10 leukoencephalopathy 31 HP:0002352
11 leukodystrophy 31 HP:0002415
12 muscular hypotonia of the trunk 31 HP:0008936
13 arthropathy 31 HP:0003040
14 scaling skin 31 HP:0040189
15 basal ganglia calcification 31 HP:0002135
16 deep white matter hypodensities 31 HP:0007321
17 chilblains 31 HP:0009710

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
irritability
leukoencephalopathy
deep white matter hypodensities
delayed development
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 (Updated 20-May-2021)

UMLS symptoms related to Aicardi-Goutieres Syndrome 5:


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

Drugs & Therapeutics for Aicardi-Goutieres Syndrome 5

Search Clinical Trials , 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:

40
Kidney

Publications for Aicardi-Goutieres Syndrome 5

Articles related to Aicardi-Goutieres Syndrome 5:

(show all 23)
# Title Authors PMID Year
1
Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. 57 6 61
20358604 2010
2
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. 57 6 61
19525956 2009
3
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. 6 57
21102625 2011
4
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. 61 6
20653736 2010
5
A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans. 6
28229507 2017
6
The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome. 6
27604406 2016
7
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 6
25604658 2015
8
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 6
24183309 2013
9
The Vpx lentiviral accessory protein targets SAMHD1 for degradation in the nucleus. 6
22973040 2012
10
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations. 6
22461318 2012
11
SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection. 6
22174685 2011
12
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. 6
21402907 2011
13
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. 6
21204240 2011
14
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. 6
20842748 2010
15
Visible-Light-Driven Photocatalytic Z-Scheme Overall Water Splitting in La5 Ti2 AgS5 O7 -based Powder-Suspension System. 61
30644173 2019
16
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. 61
30275001 2018
17
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016
18
In vitro mitomycin C absorption and delivery with different sponge materials used in filtering surgery. 61
27143843 2016
19
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 61
26182405 2015
20
Localization and expression profile of Group I and II Activators of G-protein Signaling in the kidney. 61
25533045 2015
21
Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome. 61
25672750 2015
22
Aicardi-Goutières syndrome. 61
23622384 2013
23
[The modulation of the phenotype of the human hepatoblastoma cell line HepG2 under the action of dimethyl sulfoxide]. 61
7690467 1993

Variations for Aicardi-Goutieres Syndrome 5

ClinVar genetic disease variations for Aicardi-Goutieres Syndrome 5:

6 (show top 50) (show all 182)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SAMHD1 NC_000020.11:g.(36898545_36904156)_(36951644_?)del Deletion Pathogenic 126402 GRCh37: 20:35526948-35580047
GRCh38: 20:36898545-36951644
2 SAMHD1 NC_000020.11:g.(?_36946728)_(36951653_?)del Deletion Pathogenic 830998 GRCh37: 20:35575131-35580056
GRCh38:
3 SAMHD1 NC_000020.11:g.(?_36951436)_(36951643_?)del Deletion Pathogenic 833165 GRCh37: 20:35579839-35580046
GRCh38:
4 SAMHD1 NM_015474.4(SAMHD1):c.1368T>G (p.Tyr456Ter) SNV Pathogenic 847483 GRCh37: 20:35533809-35533809
GRCh38: 20:36905406-36905406
5 SAMHD1 NM_015474.4(SAMHD1):c.66del (p.Ser23fs) Deletion Pathogenic 858736 GRCh37: 20:35579981-35579981
GRCh38: 20:36951578-36951578
6 SAMHD1 NM_015474.4(SAMHD1):c.580C>T (p.Arg194Ter) SNV Pathogenic 861422 GRCh37: 20:35559208-35559208
GRCh38: 20:36930805-36930805
7 SAMHD1 NM_015474.3(SAMHD1):c.400C>T (p.Arg134Ter) SNV Pathogenic 645045 rs752442185 GRCh37: 20:35563541-35563541
GRCh38: 20:36935138-36935138
8 SAMHD1 NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) Deletion Pathogenic 659887 rs768409471 GRCh37: 20:35532587-35532587
GRCh38: 20:36904184-36904184
9 SAMHD1 NM_015474.4(SAMHD1):c.1022_1028del (p.Val340_Cys341insTer) Deletion Pathogenic 943467 GRCh37: 20:35545159-35545165
GRCh38: 20:36916756-36916762
10 SAMHD1 NM_015474.4(SAMHD1):c.1105_1106del (p.Leu369fs) Deletion Pathogenic 946951 GRCh37: 20:35540912-35540913
GRCh38: 20:36912509-36912510
11 SAMHD1 NM_015474.3(SAMHD1):c.649_650insG (p.Phe217fs) Insertion Pathogenic 126413 rs515726146 GRCh37: 20:35555631-35555632
GRCh38: 20:36927228-36927229
12 SAMHD1 NM_015474.3(SAMHD1):c.494_495dup (p.Glu166fs) Duplication Pathogenic 639026 rs1601144527 GRCh37: 20:35563445-35563446
GRCh38: 20:36935042-36935043
13 SAMHD1 NM_015474.4(SAMHD1):c.152_155dup (p.Phe53fs) Duplication Pathogenic 969961 GRCh37: 20:35579891-35579892
GRCh38: 20:36951488-36951489
14 SAMHD1 NM_015474.3(SAMHD1):c.-6085_209-1941del Deletion Pathogenic 30603 GRCh37: 20:35577148-35586131
GRCh38: 20:36948745-36957728
15 SAMHD1 NM_015474.3(SAMHD1):c.658C>T (p.Arg220Ter) SNV Pathogenic 659536 rs1335417539 GRCh37: 20:35555623-35555623
GRCh38: 20:36927220-36927220
16 SAMHD1 NM_015474.3(SAMHD1):c.1408del (p.Arg470fs) Deletion Pathogenic 581566 rs1568762986 GRCh37: 20:35533769-35533769
GRCh38: 20:36905366-36905366
17 SAMHD1 NM_015474.4(SAMHD1):c.1609-1G>T SNV Pathogenic 1032693 GRCh37: 20:35526363-35526363
GRCh38: 20:36897960-36897960
18 SAMHD1 NM_015474.3(SAMHD1):c.427C>T (p.Arg143Cys) SNV Pathogenic 30604 rs387906948 GRCh37: 20:35563514-35563514
GRCh38: 20:36935111-36935111
19 SAMHD1 NM_015474.3(SAMHD1):c.1106T>C (p.Leu369Ser) SNV Pathogenic 126404 rs515726139 GRCh37: 20:35540912-35540912
GRCh38: 20:36912509-36912509
20 SAMHD1 NM_015474.3(SAMHD1):c.1153A>G (p.Met385Val) SNV Pathogenic 126405 rs515726140 GRCh37: 20:35540865-35540865
GRCh38: 20:36912462-36912462
21 SAMHD1 NM_015474.3(SAMHD1):c.359_370del (p.Asp120_His123del) Deletion Pathogenic 126410 rs515726144 GRCh37: 20:35563571-35563582
GRCh38: 20:36935168-36935179
22 SAMHD1 NC_000020.11:g.(?_36951416)_(36951663_?)del Deletion Pathogenic 658990 GRCh37: 20:35579819-35580066
GRCh38: 20:36951416-36951663
23 SAMHD1 NC_000020.11:g.(?_36951426)_(36951653_?)del Deletion Pathogenic 653534 GRCh37: 20:35579829-35580056
GRCh38: 20:36951426-36951653
24 SAMHD1 NM_015474.4(SAMHD1):c.939G>A (p.Trp313Ter) SNV Pathogenic 840434 GRCh37: 20:35545366-35545366
GRCh38: 20:36916963-36916963
25 SAMHD1 NM_015474.3(SAMHD1):c.1503+1G>T SNV Pathogenic 126408 rs515726142 GRCh37: 20:35532559-35532559
GRCh38: 20:36904156-36904156
26 SAMHD1 NM_015474.3(SAMHD1):c.1411-2A>G SNV Pathogenic 126407 rs515726141 GRCh37: 20:35532654-35532654
GRCh38: 20:36904251-36904251
27 SAMHD1 NM_015474.3:c.(Exons12-16del) Deletion Pathogenic 126403 GRCh37:
GRCh38:
28 SAMHD1 NM_015474.3(SAMHD1):c.760A>G (p.Met254Val) SNV Pathogenic 4073 rs121434521 GRCh37: 20:35547859-35547859
GRCh38: 20:36919456-36919456
29 SAMHD1 NM_015474.3(SAMHD1):c.368A>C (p.His123Pro) SNV Pathogenic 4072 rs121434520 GRCh37: 20:35563573-35563573
GRCh38: 20:36935170-36935170
30 SAMHD1 NM_015474.3(SAMHD1):c.1642C>T (p.Gln548Ter) SNV Pathogenic 4071 rs121434519 GRCh37: 20:35526329-35526329
GRCh38: 20:36897926-36897926
31 SAMHD1 NM_015474.3(SAMHD1):c.445C>T (p.Gln149Ter) SNV Pathogenic 4070 rs121434518 GRCh37: 20:35563496-35563496
GRCh38: 20:36935093-36935093
32 SAMHD1 NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter) SNV Pathogenic 4067 rs121434517 GRCh37: 20:35563508-35563508
GRCh38: 20:36935105-36935105
33 SAMHD1 NM_015474.3(SAMHD1):c.700G>T (p.Glu234Ter) SNV Pathogenic 639210 rs1219206348 GRCh37: 20:35547919-35547919
GRCh38: 20:36919516-36919516
34 SAMHD1 NM_015474.3(SAMHD1):c.434G>A (p.Arg145Gln) SNV Pathogenic 126412 rs515726145 GRCh37: 20:35563507-35563507
GRCh38: 20:36935104-36935104
35 SAMHD1 NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) SNV Pathogenic/Likely pathogenic 30605 rs138603088 GRCh37: 20:35559186-35559186
GRCh38: 20:36930783-36930783
36 SAMHD1 NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter) SNV Pathogenic/Likely pathogenic 4069 rs267607027 GRCh37: 20:35563451-35563451
GRCh38: 20:36935048-36935048
37 SAMHD1 NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) Deletion Likely pathogenic 800933 rs768019897 GRCh37: 20:35555634-35555635
GRCh38: 20:36927231-36927232
38 SAMHD1 NM_015474.3(SAMHD1):c.1343T>C (p.Ile448Thr) SNV Likely pathogenic 546088 rs774964432 GRCh37: 20:35533834-35533834
GRCh38: 20:36905431-36905431
39 SAMHD1 NC_000020.11:g.(?_36927172)_(36927262_?)dup Duplication Likely pathogenic 833136 GRCh37: 20:35555575-35555665
GRCh38:
40 SAMHD1 NM_015474.4(SAMHD1):c.625+1G>A SNV Likely pathogenic 800934 rs1601141002 GRCh37: 20:35559162-35559162
GRCh38: 20:36930759-36930759
41 SAMHD1 NC_000020.11:g.(?_36930750)_(36930885_?)dup Duplication Likely pathogenic 831247 GRCh37: 20:35559153-35559288
GRCh38:
42 SAMHD1 NC_000020.11:g.(?_36911208)_(36919529_?)dup Duplication Likely pathogenic 831374 GRCh37: 20:35539611-35547932
GRCh38:
43 SAMHD1 NC_000020.10:g.(?_35539601)_(35547942_?)dup Duplication Likely pathogenic 470217 GRCh37:
GRCh38: 20:36911198-36919539
44 SAMHD1 NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter) SNV Conflicting interpretations of pathogenicity 126406 rs369587937 GRCh37: 20:35533853-35533853
GRCh38: 20:36905450-36905450
45 SAMHD1 NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) SNV Conflicting interpretations of pathogenicity 338349 rs202024857 GRCh37: 20:35579852-35579852
GRCh38: 20:36951449-36951449
46 SAMHD1 NM_015474.3(SAMHD1):c.428G>A (p.Arg143His) SNV Conflicting interpretations of pathogenicity 126411 rs369035155 GRCh37: 20:35563513-35563513
GRCh38: 20:36935110-36935110
47 SAMHD1 NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) SNV Conflicting interpretations of pathogenicity 738990 rs775726168 GRCh37: 20:35545194-35545194
GRCh38: 20:36916791-36916791
48 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.18-170C>T SNV Uncertain significance 338335 rs143588093 GRCh37: 20:35521095-35521095
GRCh38: 20:36892692-36892692
49 SAMHD1 , TLDC2 NM_080628.3(TLDC2):c.*137C>T SNV Uncertain significance 290248 rs150713148 GRCh37: 20:35521384-35521384
GRCh38: 20:36892981-36892981
50 SAMHD1 NM_015474.3(SAMHD1):c.1258A>T (p.Thr420Ser) SNV Uncertain significance 582521 rs754153159 GRCh37: 20:35539633-35539633
GRCh38: 20:36911230-36911230

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

72 (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

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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10 dbSNP
11 DGIdb
17 EFO
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19 FMA
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28 GO
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30 HMDB
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57 OMIM® (Updated 20-May-2021)
61 PubMed
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71 UMLS via Orphanet
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