KEGG   DISEASE: AutismHelp
Entry
H02111                      Disease                                

Name
Autism;
Autistic spectrum disorder;
Pervasive developmental disorder
Description
Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviour. It is highly genetic and multifactorial, with many risk factors acting together. Several autism loci and genes have been identified. Large-effect rare mutations and small-effect common variants (Autism susceptibility, AUTS) contribute to risk.
Category
Mental and behavioural disorder
Brite
Human diseases [BR:br08402]
 Other diseases
  Mental and behavioural disorders
   H02111  Autism
Human diseases in ICD-11 classification [BR:br08403]
 06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A02  Autism spectrum disorder
    H02111  Autism
BRITE hierarchy
Pathway
hsa04514 Cell adhesion molecules   
hsa04724 Glutamatergic synapse   
hsa04310 Wnt signaling pathway   
hsa04150 mTOR signaling pathway   
Gene
(AUTS15) CNTNAP2 [HSA:26047] [KO:K07380]
(AUTS16) SLC9A9 [HSA:285195] [KO:K14725]
(AUTS17) SHANK2 [HSA:22941] [KO:K15009]
(AUTS18) CHD8 [HSA:57680] [KO:K04494]
(AUTS19) EIF4E [HSA:1977] [KO:K03259]
(AUTSX1) NLGN3 [HSA:54413] [KO:K07378]
(AUTSX2) NLGN4X [HSA:57502] [KO:K07378]
(AUTSX3) MECP2 [HSA:4204] [KO:K11588]
(AUTSX4) PTCHD1 [HSA:139411]
(AUTSX5) RPL10 [HSA:6134] [KO:K02866]
(AUTSX6) TMLHE [HSA:55217] [KO:K00474]
Other DBs
ICD-11: 6A02
ICD-10: F84.0
MeSH: D001321
OMIM: 209850 612100 613410 613436 615032 615091 300425 300495 300496 300830 300847 300872
Reference
  Authors
Lai MC, Lombardo MV, Baron-Cohen S
  Title
Autism.
  Journal
Lancet 383:896-910 (2014)
DOI:10.1016/S0140-6736(13)61539-1
Reference
  Authors
Levy SE, Mandell DS, Schultz RT
  Title
Autism.
  Journal
Lancet 374:1627-38 (2009)
DOI:10.1016/S0140-6736(09)61376-3
Reference
  Authors
Muhle R, Trentacoste SV, Rapin I
  Title
The genetics of autism.
  Journal
Pediatrics 113:e472-86 (2004)
DOI:10.1542/peds.113.5.e472
Reference
  Authors
Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA
  Title
Identifying autism loci and genes by tracing recent shared ancestry.
  Journal
Science 321:218-23 (2008)
DOI:10.1126/science.1157657
Reference
  Authors
Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA
  Title
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
  Journal
Nat Genet 42:489-91 (2010)
DOI:10.1038/ng.589
Reference
  Authors
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, Failla P, Peeters H, Steyaert J, Vissers LELM, Francescatto L, Mefford HC, Rosenfeld JA, Bakken T, O'Roak BJ, Pawlus M, Moon R, Shendure J, Amaral DG, Lein E, Rankin J, Romano C, de Vries BBA, Katsanis N, Eichler EE
  Title
Disruptive CHD8 mutations define a subtype of autism early in development.
  Journal
Cell 158:263-276 (2014)
DOI:10.1016/j.cell.2014.06.017
Reference
  Authors
Neves-Pereira M, Muller B, Massie D, Williams JH, O'Brien PC, Hughes A, Shen SB, Clair DS, Miedzybrodzka Z
  Title
Deregulation of EIF4E: a novel mechanism for autism.
  Journal
J Med Genet 46:759-65 (2009)
DOI:10.1136/jmg.2009.066852
Reference
  Authors
Klauck SM, Felder B, Kolb-Kokocinski A, Schuster C, Chiocchetti A, Schupp I, Wellenreuther R, Schmotzer G, Poustka F, Breitenbach-Koller L, Poustka A
  Title
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism.
  Journal
Mol Psychiatry 11:1073-84 (2006)
DOI:10.1038/sj.mp.4001883
Reference
  Authors
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT
  Title
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
  Journal
Clin Genet 88:224-33 (2015)
DOI:10.1111/cge.12482
Reference
  Authors
Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH Jr, Goin-Kochel RP, Vaz FM, Beaudet AL
  Title
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.
  Journal
Proc Natl Acad Sci U S A 109:7974-81 (2012)
DOI:10.1073/pnas.1120210109
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