KEGG DISEASE: Autism

KEGG

DISEASE: Autism

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 in ICD-11 classification [BR:br08403]
06 Mental, behavioural or neurodevelopmental disorders
  Neurodevelopmental disorders
   6A02  Autism spectrum disorder
    H02111  Autism
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06544  Neuroactive ligand signaling
   H02111  Autism

Pathway

Cell adhesion molecules

Glutamatergic synapse

Wnt signaling pathway

mTOR signaling pathway

Network

nt06544 Neuroactive ligand signaling

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]
(AUTS20) NLGN1 [HSA:22871] [KO:K07378]
(AUTSX1) NLGN3 [HSA:54413] [KO:K07378]
(AUTSX2) NLGN4X [HSA:57502] [KO:K07378]
(AUTSX3) MECP2 [HSA:4204] [KO:K11588]
(AUTSX4) PTCHD1 [HSA:139411] [KO:K24682]
(AUTSX5) RPL10 [HSA:6134] [KO:K02866]
(AUTSX6) TMLHE [HSA:55217] [KO:K00474]

Other DBs

ICD-11:

MeSH:

OMIM:

209850 612100 613410 613436 615032 615091 618830 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

PMID:18179893 (AUTS15)

Authors

Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH

Title

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

Journal

Am J Hum Genet 82:150-9 (2008)
DOI:10.1016/j.ajhg.2007.09.005

Reference

PMID:18621663 (AUTS16)

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

PMID:20473310 (AUTS17)

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

PMID:24998929 (AUTS18)

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

PMID:19556253 (AUTS19)

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

PMID:28841651 (AUTS20)

Authors

Nakanishi M, Nomura J, Ji X, Tamada K, Arai T, Takahashi E, Bucan M, Takumi T

Title

Functional significance of rare neuroligin 1 variants found in autism.

Journal

PLoS Genet 13:e1006940 (2017)
DOI:10.1371/journal.pgen.1006940

Reference

PMID:12669065 (AUTSX1 AUTSX2)

Authors

Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T

Title

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Journal

Nat Genet 34:27-9 (2003)
DOI:10.1038/ng1136

Reference

PMID:12770674 (AUTSX3)

Authors

Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA

Title

Identification of MeCP2 mutations in a series of females with autistic disorder.

Journal

Pediatr Neurol 28:205-11 (2003)
DOI:10.1016/s0887-8994(02)00624-0

Reference

PMID:25131214 (AUTSX4)

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

PMID:16940977 (AUTSX5)

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

PMID:22566635 (AUTSX6)

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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