KEGG   DISEASE: Aicardi-Goutieres syndrome
H00290                      Disease                                
Aicardi-Goutieres syndrome
Inherited autoinflammatory disease [DS:H02599]
Aicardi-Goutieres Syndrome (AGS) is an autosomal recessive encephalopathy characterized by basal ganglia and white matter calcification in the presence of chronic cerebrospinal fluid lymphocytosis, and a raised level of cerebrospinal fluid IFNalpha. There is progressive neurological dysfunction resulting in a failure of development of expected physical and social skills. AGS presents in infancy and is lethal in ~40% of cases. It can be caused by mutations in the following genes, TREX1, RNaseH2 and SAMHD1 that lead to excessive intracellular accumulation of DNA and abnormal type I IFN metabolism.
Immune system disease
Human diseases [BR:br08402]
 Immune system diseases
  Other immune system diseases
   H00290  Aicardi-Goutieres syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H00290  Aicardi-Goutieres syndrome
 08 Diseases of the nervous system
  Disorders with neurocognitive impairment as a major feature
   8A2Y  Other specified disorders with neurocognitive impairment as a major feature
    H00290  Aicardi-Goutieres syndrome
hsa03030  DNA replication
hsa04623  Cytosolic DNA-sensing pathway
hsa04622  RIG-I-like receptor signaling pathway
nt06509 DNA replication
nt06519 RLR signaling
nt06520 CGAS-STING signaling
(AGS1) TREX1 [HSA:11277] [KO:K10790]
(AGS2) RNASEH2B [HSA:79621] [KO:K10744]
(AGS3) RNASEH2C [HSA:84153] [KO:K10745]
(AGS4) RNASEH2A [HSA:10535] [KO:K10743]
(AGS5) SAMHD1 [HSA:25939] [KO:K22544]
(AGS6) ADAR [HSA:103] [KO:K12968]
(AGS7) IFIH1 [HSA:64135] [KO:K12647]
(AGS8) LSM11 [HSA:134353] [KO:K25592]
(AGS9) RNU7-1 [HSA:100147744]
Other DBs
ICD-11: 5C55.2 8A2Y
ICD-10: G31.8
MeSH: C535607
OMIM: 225750 610181 610329 610333 612952 615010 615846 619486 619487
Stephenson JB
Aicardi-Goutieres syndrome (AGS).
Eur J Paediatr Neurol 12:355-8 (2008)
PMID:19442247 (TREX1)
Lindahl T, Barnes DE, Yang YG, Robins P
Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease.
Biochem Soc Trans 37:535-8 (2009)
PMID:19525956 (SAMHD1)
Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response.
Nat Genet 41:829-32 (2009)
Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM
Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.
Nucleic Acids Res 37:96-110 (2009)
Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D, Livingston JH, Rice GI
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
Neuropediatrics 45:386-93 (2014)
PMID:33230297 (LSM11, RNU7-1)
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Fremond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldan A, Garcia-Perez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenco CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Nat Genet 52:1364-1372 (2020)

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