ASD
MCID: ATS007
MIFTS: 57

Autism Spectrum Disorder (ASD) malady

Summaries for Autism Spectrum Disorder

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 3CDC, 63Wikipedia, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 Autism spectrum disorders (asd) are a group of developmental conditions characterized by social impairments, communication difficulties, and restricted, repetitive, and stereotyped patterns of behavior. autistic disorder, sometimes called autism or classical asd, is the most severe form of asd, while other conditions along the spectrum include a milder form known as asperger syndrome as well as childhood disintegrative disorder and pervasive developmental disorder not otherwise specified (pdd-nos). although asd varies significantly in features and severity, it occurs worldwide and affects every age group. experts estimate that 1 out of 110 children will have an asd.  males are more likely to have an asd than females. last updated: 10/19/2011

MalaCards: Autism Spectrum Disorder, also known as autism spectrum disorders, is related to intellectual disability and atypical autism, and has symptoms including highly repetitive behavior, severely restricted interests and widespread abnormalities of social interactions. An important gene associated with Autism Spectrum Disorder is SHANK3 (SH3 and multiple ankyrin repeat domains 3), and among its related pathways is Cell adhesion molecules (CAMs). Affiliated tissues include brain, eye and testes, and related mouse phenotypes are nervous system and no phenotypic analysis.

Disease Ontology:8 A pervasive developmental disorder that is a spectrum of psychological conditions. the disease has symptom widespread abnormalities of social interactions and communication, has symptom severely restricted interests and has symptom highly repetitive behavior.

CDC:3 Autism is one of a group of disorders known as autism spectrum disorders (ASDs). ASDs include autistic disorder, pervasive developmental disorder – not otherwise specified (PDD-NOS, including atypical autism), and Asperger syndrome. These conditions all have some of the same symptoms, but they differ in terms of when the symptoms start, how severe they are, and the exact nature of the symptoms.

Wikipedia:63 The autism spectrum or autistic spectrum describes a range of conditions classified as... more...

GeneReviews summary for autism-overview

Aliases & Classifications for Autism Spectrum Disorder

About this section
Sources:
8Disease Ontology, 60UMLS, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR
See all sources

Aliases & Descriptions:

autism spectrum disorder 8
autism spectrum disorders 19 42 20 22 60
pervasive development disorder 60
asd 42


External Ids:

Disease Ontology8 DOID:0060041

Related Diseases for Autism Spectrum Disorder

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Autism Spectrum Disorder family:

Autism 19 Autism 9
Autism 10 Autism 18
Autism 14b

Diseases related to Autism Spectrum Disorder via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1intellectual disability31.0NLGN4X, SHANK3, PTCHD1
2atypical autism30.9NLGN3, NLGN4X
3asperger syndrome30.9SHANK3, NLGN3, NLGN4X
4autistic disorder30.8NLGN4X, NLGN3, HOXA1
5pervasive developmental disorder30.1NLGN4X
6attention deficit hyperactivity disorder10.8
7anxiety disorder10.7
8fragile x syndrome10.7
9developmental disabilities10.7
10schizophrenia10.6
11speech disorder10.6
12personality disorder10.6
13williams syndrome10.5
14rett syndrome10.4
15down syndrome10.4
16sleep disorder10.4
17tic disorder10.4
18tuberous sclerosis10.4
19cerebritis10.4
20conduct disorder10.4
21neuronitis10.4
22developmental coordination disorder10.4
23prader-willi syndrome10.4
24brain disease10.4
25learning disability10.4
26sexual disorder10.4
27rubella10.3
28neurofibromatosis10.3
29obsessive-compulsive disorder10.3
30cornelia de lange syndrome10.3
31cerebral palsy10.3
32fetal alcohol spectrum disorder10.3
33mitochondrial disorders10.3
34smith-lemli-opitz syndrome10.2
35conversion disorder10.2
36angelman syndrome10.2
37borna disease10.2
38chronic tic disorder10.2
39measles10.2
40anorexia nervosa10.2
41bipolar i disorder10.2
42mumps10.2
43astrocytoma10.2
44bipolar disorder10.2
45cerebellar astrocytoma10.2
46eating disorder10.2
47epilepsy syndrome10.2
48gender identity disorder10.2
49autism spectrum disorder due to auts2 deficiency10.2
50patent foramen ovale10.2

Graphical network of the top 20 diseases related to Autism Spectrum Disorder:



Diseases related to autism spectrum disorder

Clinical Features for Autism Spectrum Disorder

About this section
Sources:
8Disease Ontology
See all sources


Symptoms:

8
  • highly repetitive behavior
  • severely restricted interests
  • widespread abnormalities of social interactions

Drugs & Therapeutics for Autism Spectrum Disorder

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Autism Spectrum Disorder

Drug clinical trials:

Search ClinicalTrials for Autism Spectrum Disorder

Search NIH Clinical Center for Autism Spectrum Disorder

Search CenterWatch for Autism Spectrum Disorder

Genetic Tests for Autism Spectrum Disorder

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Autism Spectrum Disorder:

id Genetic test Affiliating Genes
1 Autism Spectrum Disorders20 22 NLGN3, NLGN4X, RPL10, SHANK2, SHANK3, SNRPN

Anatomical Context for Autism Spectrum Disorder

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Autism Spectrum Disorder:

32
Brain, Eye, Testes, Amygdala, Cortex, Endothelial, Skin, Prefrontal cortex, Myeloid, Heart, Cerebellum

Animal Models for Autism Spectrum Disorder or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Autism Spectrum Disorder:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363111.3SHANK2, SHANK3, NRXN3, CNTN4, HOXB1, HOXA1
2MP:000301211.0EN2, NLGN3, SHANK2, SHANK3, NRXN3, HOXB1
3MP:000538611.0NLGN3, SNRPN, SHANK2, SHANK3, HOXB1, HOXA1

Publications for Autism Spectrum Disorder

About this section
Sources:
50PubMed
See all sources

Articles related to Autism Spectrum Disorder:

(show top 50)    (show all 787)
idTitleAuthorsYear
1
A genome scan for Loci shared by autism spectrum disorder and language impairment. (24170272)
2014
2
The impact on Iranian mothers and fathers who have children with an autism spectrum disorder. (23279238)
2014
3
Elevated amygdala response to faces and gaze aversion in autism spectrum disorder. (23596190)
2014
4
Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder. (24362370)
2014
5
Pitch discrimination and melodic memory in children with autism spectrum disorders. (23150888)
2014
6
Three dimensions of oppositionality in autism spectrum disorder. (23860740)
2014
7
What We Have Learned about Autism Spectrum Disorder from Valproic Acid. (24381784)
2013
8
Body mass index, dietary intake and feeding problems of Turkish children with autism spectrum disorder (ASD). (24029808)
2013
9
Immune dysregulation in autism spectrum disorder. (24290389)
2013
10
Valproate use during pregnancy was linked to autism spectrum disorder and childhood autism in offspring. (24026277)
2013
11
Effect of hippotherapy on motor control, adaptive behaviors, and participation in children with autism spectrum disorder: a pilot study. (24195899)
2013
12
Autism spectrum disorder in Chinese populations: a brief review. (23857805)
2013
13
Parental Reaction to Early Diagnosis of Their Children's Autism Spectrum Disorder: An Exploratory Study. (23959534)
2013
14
Developing Mirror Self Awareness in Students with Autism Spectrum Disorder. (24077784)
2013
15
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. (23375656)
2013
16
Genome-wide identification of transcriptional targets of RORA reveals direct regulation of multiple genes associated with autism spectrum disorder. (23697635)
2013
17
Children with autism spectrum disorder at a pediatric hospital: a systematic review of the literature. (23926752)
2013
18
Barriers to dental care for children with autism spectrum disorder. (23943360)
2013
19
The autism spectrum disorder 'epidemic': Need for biopsychosocial formulation. (24168814)
2013
20
Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing caps2/cadps2 copy number and alternative splicing variants. (24287856)
2013
21
Meta review of systematic and meta analytic reviews on movement differences, effect of movement based interventions, and the underlying neural mechanisms in autism spectrum disorder. (23532374)
2013
22
The biopsychosocial processes in autism spectrum disorder. (23656636)
2013
23
Effects of Classroom Animal-Assisted Activities on Social Functioning in Children with Autism Spectrum Disorder. (24156772)
2013
24
Emotion recognition of static and dynamic faces in autism spectrum disorder. (24341852)
2013
25
Hypothesis for a systems connectivity model of Autism Spectrum Disorder pathogenesis: links to gut bacteria, oxidative stress, and intestinal permeability. (23273906)
2013
26
Comparison of ICD-10R, DSM-IV-TR and DSM-5 in an adult autism spectrum disorder diagnostic clinic. (23504376)
2013
27
Autism spectrum disorder phenotypes and prenatal exposure to methylmercury. (23873071)
2013
28
Autism spectrum disorder in children born preterm-role of exposure to perinatal inflammation. (23885233)
2013
29
Brief report: the dopamine-3-receptor gene (DRD3) is associated with specific repetitive behavior in autism spectrum disorder (ASD). (21691864)
2012
30
Attenuation of change blindness in children with autism spectrum disorders. (22882373)
2012
31
DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families. (22559203)
2012
32
Phenotypic features associated with mosaic tetrasomy 9p in a 20-year-old female patient include autism spectrum disorder. (22876595)
2012
33
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations. (21394203)
2011
34
Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome. (21881965)
2011
35
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. (22833210)
2011
36
Decreased serum arylesterase activity in autism spectrum disorders. (20488557)
2010
37
Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population. (20657642)
2010
38
Improving the management of children with learning disability and autism spectrum disorder when they attend hospital. (21039752)
2010
39
Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders. (20546835)
2010
40
HTR1B and HTR2C in autism spectrum disorders in Brazilian families. (19038234)
2009
41
A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder. (19606485)
2009
42
Association study of DISC1 in Korean population with autism spectrum disorders. (19352214)
2009
43
Comparative study of children with ADHD only, autism spectrum disorder + ADHD, and chronic multiple tic disorder + ADHD. (19218544)
2009
44
No evidence for involvement of genetic variants in the X-linked neuroligin genes NLGN3 and NLGN4X in probands with autism spectrum disorder on high functioning level. (18189281)
2008
45
A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. (18675947)
2008
46
Relationships between multiple births and autism spectrum disorders, cerebral palsy, and intellectual disabilities: autism and developmental disabilities monitoring (ADDM) network-2002 surveillance year. (19360679)
2008
47
Re-examining the core features of autism: a comparison of autism spectrum disorder and fetal alcohol spectrum disorder. (17995487)
2007
48
Family-based association study between GRIK2 polymorphisms and autism spectrum disorders in the Korean trios. (17428563)
2007
49
Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios. (17280648)
2007
50
Intravenous secretin for autism spectrum disorder. (16034901)
2005

Genetic Variations for Autism Spectrum Disorder

About this section

Expression for genes affiliated with Autism Spectrum Disorder

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Autism Spectrum Disorder

Search GEO for disease gene expression data for Autism Spectrum Disorder.

Pathways for genes affiliated with Autism Spectrum Disorder

About this section
Sources:
29KEGG
See all sources

Pathways related to Autism Spectrum Disorder according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.7NRXN3, NLGN3, NLGN4X

Compounds for genes affiliated with Autism Spectrum Disorder

About this section

GO Terms for genes affiliated with Autism Spectrum Disorder

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Autism Spectrum Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cilium membraneGO:06017010.7SHANK3, SHANK2
2excitatory synapseGO:06007610.6NLGN3, NLGN4X
3cell junctionGO:03005410.5SHANK3, SHANK2, NLGN3, NLGN4X

Biological processes related to Autism Spectrum Disorder according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1social behaviorGO:03517611.0SHANK3, NLGN3, NLGN4X
2regulation of long-term synaptic potentiationGO:190027110.9SHANK3, NLGN3
3positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activityGO:200096910.9NLGN3, SHANK3
4facial nucleus developmentGO:02175410.9HOXB1, HOXA1
5rhombomere 5 developmentGO:02157110.9HOXB1, HOXA1
6rhombomere 4 developmentGO:02157010.9HOXB1, HOXA1
7facial nerve structural organizationGO:02161210.8HOXA1, HOXB1
8vocalization behaviorGO:07162510.8NLGN4X, SHANK3
9regulation of dendritic spine morphogenesisGO:06100110.8SHANK3, NLGN3
10presynaptic membrane assemblyGO:09710510.8NLGN3, NLGN4X
11positive regulation of excitatory postsynaptic membrane potentialGO:200046310.7SHANK3, NLGN3
12neuron cell-cell adhesionGO:00715810.7NLGN3, CNTN4
13synapse organizationGO:05080810.7NLGN3, NLGN4X
14positive regulation of synaptic transmission, glutamatergicGO:05196810.6SHANK3, NLGN3
15cognitionGO:05089010.3PTCHD1, HOXA1

Molecular functions related to Autism Spectrum Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ionotropic glutamate receptor bindingGO:03525510.7SHANK3, SHANK2
2GKAP/Homer scaffold activityGO:03016010.6SHANK3, SHANK2
3neurexin family protein bindingGO:04204310.4NLGN3, NLGN4X

Products for genes affiliated with Autism Spectrum Disorder

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autism Spectrum Disorder

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet