KEGG   DISEASE: Aicardi-Goutieres syndrome
Entry
H00290                      Disease                                

Name
Aicardi-Goutieres syndrome
Description
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.
Category
Immune system disease
Brite
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
Pathway
hsa04623  Cytosolic DNA-sensing pathway
hsa03030  DNA replication
hsa04622  RIG-I-like receptor signaling pathway
Gene
(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]
Other DBs
ICD-11: 5C55.2 8A2Y
ICD-10: G31.8
MeSH: C535607
OMIM: 225750 610181 610329 610333 612952 615010 615846
Reference
  Authors
Lindahl T, Barnes DE, Yang YG, Robins P
  Title
Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease.
  Journal
Biochem Soc Trans 37:535-8 (2009)
DOI:10.1042/BST0370535
Reference
  Authors
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
  Title
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response.
  Journal
Nat Genet 41:829-32 (2009)
DOI:10.1038/ng.373
Reference
  Authors
Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP
  Title
New roles for the major human 3'-5' exonuclease TREX1 in human disease.
  Journal
Cell Cycle 7:1718-25 (2008)
DOI:10.4161/cc.7.12.6162
Reference
  Authors
O'Driscoll M
  Title
TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders.
  Journal
DNA Repair (Amst) 7:997-1003 (2008)
DOI:10.1016/j.dnarep.2008.02.010
Reference
  Authors
Rigby RE, Leitch A, Jackson AP
  Title
Nucleic acid-mediated inflammatory diseases.
  Journal
Bioessays 30:833-42 (2008)
DOI:10.1002/bies.20808
Reference
  Authors
Stetson DB, Ko JS, Heidmann T, Medzhitov R
  Title
Trex1 prevents cell-intrinsic initiation of autoimmunity.
  Journal
Cell 134:587-98 (2008)
DOI:10.1016/j.cell.2008.06.032
Reference
  Authors
Crow YJ, Rehwinkel J
  Title
Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.
  Journal
Hum Mol Genet 18:R130-6 (2009)
DOI:10.1093/hmg/ddp293
Reference
  Authors
Stephenson JB
  Title
Aicardi-Goutieres syndrome (AGS).
  Journal
Eur J Paediatr Neurol 12:355-8 (2008)
DOI:10.1016/j.ejpn.2007.11.010
Reference
  Authors
Crow YJ, Livingston JH
  Title
Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection.
  Journal
Dev Med Child Neurol 50:410-6 (2008)
DOI:10.1111/j.1469-8749.2008.02062.x
Reference
  Authors
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
  Title
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
  Journal
Neuropediatrics 45:386-93 (2014)
DOI:10.1055/s-0034-1389161
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