AGS5
MCID: ACR092
MIFTS: 37

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 56 73 13 71
Aicardi Goutieres Syndrome 5 29 6
Pseudo-Torch Syndrome 73 71
Ags5 56 73
Aicardi-Goutieres Syndrome, Type 5 39
Aicardi-Goutieres Syndrome 1 71
Cree Encephalitis 73

Characteristics:

OMIM:

56
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 : 73 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). The drugs Abacavir and Zidovudine have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and testes, 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 scaling skin 31 HP:0040189
8 dry skin 31 HP:0000958
9 irritability 31 HP:0000737
10 thrombocytopenia 31 HP:0001873
11 leukoencephalopathy 31 HP:0002352
12 leukodystrophy 31 HP:0002415
13 muscular hypotonia of the trunk 31 HP:0008936
14 arthropathy 31 HP:0003040
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:

56
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

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

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abacavir Approved, Investigational Phase 2 136470-78-5 65140 441300
2
Zidovudine Approved Phase 2 30516-87-1 35370
3
Lamivudine Approved, Investigational Phase 2 134678-17-4 60825
4 Reverse Transcriptase Inhibitors Phase 2
5 Anti-Infective Agents Phase 2
6 Pharmaceutical Solutions Phase 2
7 Anti-Retroviral Agents Phase 2
8 Antiviral Agents Phase 2
9 Antimetabolites Phase 2
10 interferons Phase 2
11 Anti-HIV Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Clinical Trial of Reverse Transcriptase Inhibitors in Children With Aicardi-Goutières Syndrome (AGS) Completed NCT02363452 Phase 2 Reverse transcriptase inhibitors: Zidovudine, Lamivudine, Abacavir

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:

40
Skin, Kidney, Testes, Bone

Publications for Aicardi-Goutieres Syndrome 5

Articles related to Aicardi-Goutieres Syndrome 5:

(show all 16)
# Title Authors PMID Year
1
Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. 61 56 6
20358604 2010
2
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. 61 56 6
19525956 2009
3
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions. 56 6
21102625 2011
4
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 6
25604658 2015
5
Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. 6
21204240 2011
6
Aicardi-Goutières Syndrome 6
20301648 2005
7
Visible-Light-Driven Photocatalytic Z-Scheme Overall Water Splitting in La5 Ti2 AgS5 O7 -based Powder-Suspension System. 61
30644173 2019
8
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. 61
30275001 2018
9
Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. 61
27643693 2016
10
In vitro mitomycin C absorption and delivery with different sponge materials used in filtering surgery. 61
27143843 2016
11
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome. 61
26182405 2015
12
Localization and expression profile of Group I and II Activators of G-protein Signaling in the kidney. 61
25533045 2015
13
Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome. 61
25672750 2015
14
Aicardi-Goutières syndrome. 61
23622384 2013
15
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. 61
20653736 2010
16
[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 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SAMHD1 NM_015474.3(SAMHD1):c.433C>T (p.Arg145Ter)SNV Pathogenic 4067 rs121434517 20:35563508-35563508 20:36935105-36935105
2 SAMHD1 NM_015474.3(SAMHD1):c.490C>T (p.Arg164Ter)SNV Pathogenic 4069 rs267607027 20:35563451-35563451 20:36935048-36935048
3 SAMHD1 NM_015474.3(SAMHD1):c.445C>T (p.Gln149Ter)SNV Pathogenic 4070 rs121434518 20:35563496-35563496 20:36935093-36935093
4 SAMHD1 NM_015474.3(SAMHD1):c.1642C>T (p.Gln548Ter)SNV Pathogenic 4071 rs121434519 20:35526329-35526329 20:36897926-36897926
5 SAMHD1 NM_015474.3(SAMHD1):c.368A>C (p.His123Pro)SNV Pathogenic 4072 rs121434520 20:35563573-35563573 20:36935170-36935170
6 SAMHD1 NM_015474.3(SAMHD1):c.760A>G (p.Met254Val)SNV Pathogenic 4073 rs121434521 20:35547859-35547859 20:36919456-36919456
7 SAMHD1 NM_015474.3(SAMHD1):c.-6085_209-1941deldeletion Pathogenic 30603 20:35577148-35586131 20:36948745-36957728
8 SAMHD1 NM_015474.3(SAMHD1):c.427C>T (p.Arg143Cys)SNV Pathogenic 30604 rs387906948 20:35563514-35563514 20:36935111-36935111
9 SAMHD1 NM_015474.3(SAMHD1):c.1411-2A>GSNV Pathogenic 126407 rs515726141 20:35532654-35532654 20:36904251-36904251
10 SAMHD1 NM_015474.3(SAMHD1):c.1503+1G>TSNV Pathogenic 126408 rs515726142 20:35532559-35532559 20:36904156-36904156
11 SAMHD1 NM_015474.3(SAMHD1):c.1609-1G>CSNV Pathogenic 126409 rs515726143 20:35526363-35526363 20:36897960-36897960
12 SAMHD1 NM_015474.3(SAMHD1):c.359_370del (p.Asp120_His123del)deletion Pathogenic 126410 rs515726144 20:35563571-35563582 20:36935168-36935179
13 SAMHD1 NM_015474.3(SAMHD1):c.428G>A (p.Arg143His)SNV Pathogenic 126411 rs369035155 20:35563513-35563513 20:36935110-36935110
14 SAMHD1 NM_015474.3(SAMHD1):c.434G>A (p.Arg145Gln)SNV Pathogenic 126412 rs515726145 20:35563507-35563507 20:36935104-36935104
15 SAMHD1 NM_015474.3(SAMHD1):c.649_650insG (p.Phe217fs)insertion Pathogenic 126413 rs515726146 20:35555631-35555632 20:36927228-36927229
16 SAMHD1 NM_015474.3(SAMHD1):c.1153A>G (p.Met385Val)SNV Pathogenic 126405 rs515726140 20:35540865-35540865 20:36912462-36912462
17 SAMHD1 NC_000020.11:g.(36898545_36904156)_(36951644_?)deldeletion Pathogenic 126402 20:35526948-35580047 20:36898545-36951644
18 SAMHD1 NM_015474.3:c.(Exons12-16del)deletion Pathogenic 126403
19 SAMHD1 NM_015474.3(SAMHD1):c.1106T>C (p.Leu369Ser)SNV Pathogenic 126404 rs515726139 20:35540912-35540912 20:36912509-36912509
20 SAMHD1 NM_015474.3(SAMHD1):c.1408del (p.Arg470fs)deletion Pathogenic 581566 rs1568762986 20:35533769-35533769 20:36905366-36905366
21 SAMHD1 NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)deletion Pathogenic 659887 20:35532587-35532587 20:36904184-36904184
22 SAMHD1 NM_015474.3(SAMHD1):c.658C>T (p.Arg220Ter)SNV Pathogenic 659536 20:35555623-35555623 20:36927220-36927220
23 SAMHD1 NM_015474.3(SAMHD1):c.700G>T (p.Glu234Ter)SNV Pathogenic 639210 20:35547919-35547919 20:36919516-36919516
24 SAMHD1 NM_015474.3(SAMHD1):c.494_495dup (p.Glu166fs)duplication Pathogenic 639026 20:35563445-35563446 20:36935042-36935043
25 SAMHD1 NM_015474.3(SAMHD1):c.400C>T (p.Arg134Ter)SNV Pathogenic 645045 20:35563541-35563541 20:36935138-36935138
26 SAMHD1 NC_000020.10:g.(?_35579819)_(35580066_?)deldeletion Pathogenic 658990 20:35579819-35580066 20:36951416-36951663
27 SAMHD1 NC_000020.10:g.(?_35579829)_(35580056_?)deldeletion Pathogenic 653534 20:35579829-35580056 20:36951426-36951653
28 SAMHD1 NM_015474.4(SAMHD1):c.646_647del (p.Met216fs)deletion Likely pathogenic 800933 20:35555634-35555635 20:36927231-36927232
29 SAMHD1 NM_015474.4(SAMHD1):c.625+1G>ASNV Likely pathogenic 800934 20:35559162-35559162 20:36930759-36930759
30 SAMHD1 NC_000020.10:g.(?_35539601)_(35547942_?)dupduplication Likely pathogenic 470217 20:36911198-36919539
31 SAMHD1 NM_015474.3(SAMHD1):c.1324C>T (p.Arg442Ter)SNV Conflicting interpretations of pathogenicity 126406 rs369587937 20:35533853-35533853 20:36905450-36905450
32 SAMHD1 NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser)SNV Conflicting interpretations of pathogenicity 338342 rs145735112 20:35526858-35526858 20:36898455-36898455
33 SAMHD1 NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn)SNV Conflicting interpretations of pathogenicity 30605 rs138603088 20:35559186-35559186 20:36930783-36930783
34 SAMHD1 NM_015474.3(SAMHD1):c.1393C>A (p.Gln465Lys)SNV Uncertain significance 338343 rs142393072 20:35533784-35533784 20:36905381-36905381
35 SAMHD1 NM_015474.3(SAMHD1):c.696G>T (p.Thr232=)SNV Uncertain significance 583260 rs763408711 20:35555585-35555585 20:36927182-36927182
36 SAMHD1 NM_015474.3(SAMHD1):c.571A>G (p.Ile191Val)SNV Uncertain significance 592135 rs1303667371 20:35559217-35559217 20:36930814-36930814
37 SAMHD1 NM_080628.3(TLDC2):c.*216C>TSNV Uncertain significance 660739 20:35521463-35521463 20:36893060-36893060
38 SAMHD1 NM_015474.3(SAMHD1):c.1293A>T (p.Leu431Phe)SNV Uncertain significance 559589 rs1356154563 20:35533884-35533884 20:36905481-36905481
39 SAMHD1 NM_015474.3(SAMHD1):c.1590C>G (p.Ile530Met)SNV Uncertain significance 577316 rs1354357820 20:35526861-35526861 20:36898458-36898458
40 SAMHD1 NM_015474.3(SAMHD1):c.364A>G (p.Ile122Val)SNV Uncertain significance 578909 rs757367080 20:35563577-35563577 20:36935174-36935174
41 SAMHD1 NM_015474.3(SAMHD1):c.1746+4_1746+15deldeletion Uncertain significance 568564 rs1568758975 20:35526210-35526221 20:36897807-36897818
42 SAMHD1 NM_015474.3(SAMHD1):c.1321G>C (p.Ala441Pro)SNV Uncertain significance 571731 rs1311797673 20:35533856-35533856 20:36905453-36905453
43 SAMHD1 NC_000020.10:g.(?_35532540)_(35540975_?)deldeletion Uncertain significance 584241 20:35532540-35540975 20:36904137-36912572
44 SAMHD1 NM_015474.3(SAMHD1):c.1258A>T (p.Thr420Ser)SNV Uncertain significance 582521 rs754153159 20:35539633-35539633 20:36911230-36911230
45 SAMHD1 NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn)SNV Uncertain significance 582618 rs373079404 20:35532618-35532618 20:36904215-36904215
46 SAMHD1 NM_015474.3(SAMHD1):c.1410+5G>TSNV Uncertain significance 649187 20:35533762-35533762 20:36905359-36905359
47 SAMHD1 NM_015474.3(SAMHD1):c.2T>A (p.Met1Lys)SNV Uncertain significance 653330 20:35580045-35580045 20:36951642-36951642
48 SAMHD1 NM_015474.3(SAMHD1):c.668C>T (p.Pro223Leu)SNV Uncertain significance 652061 20:35555613-35555613 20:36927210-36927210
49 SAMHD1 NM_015474.3(SAMHD1):c.610C>T (p.Leu204Phe)SNV Uncertain significance 654950 20:35559178-35559178 20:36930775-36930775
50 SAMHD1 NM_015474.3(SAMHD1):c.541G>A (p.Ala181Thr)SNV Uncertain significance 654205 20:35559247-35559247 20:36930844-36930844

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

73 (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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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