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
Pre- and Perinatal Risk Factors for Autism Spectrum Disorder in a New Jersey Cohort. (24413357)
2014
2
Prevalence of cerebral palsy, co-occurring autism spectrum disorders, and motor functioning - Autism and Developmental Disabilities Monitoring Network, USA, 2008. (24117446)
2014
3
A comparison study of depression and quality of life in Turkish mothers of children with Down syndrome, cerebral palsy, and autism spectrum disorder. (23654042)
2013
4
Tract-based spatial statistics reveal altered relationship between non-verbal reasoning abilities and white matter integrity in autism spectrum disorder. (23561717)
2013
5
A potentiated startle study of uncertainty and contextual anxiety in adolescents diagnosed with autism spectrum disorder. (24007557)
2013
6
The brain GABA-benzodiazepine receptor alpha-5 subtype in autism spectrum disorder: a pilot [(11)C]Ro15-4513 positron emission tomography study. (22546616)
2013
7
Brief Report: social disability in autism spectrum disorder: results from Research Units on Pediatric Psychopharmacology (RUPP) Autism Network trials. (23104617)
2013
8
Validity of the Aberrant Behavior Checklist in Children with Autism Spectrum Disorder. (24165702)
2013
9
Characterization of a 520a88kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. (24357335)
2013
10
Review: social skills groups may improve social competence in children and adolescents with autism spectrum disorder. (23093693)
2013
11
Maternal autoantibodies are associated with abnormal brain enlargement in a subgroup of children with autism spectrum disorder. (23395715)
2013
12
Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. (22892527)
2013
13
Functional and structural connectivity of frontostriatal circuitry in Autism Spectrum Disorder. (23964221)
2013
14
Interpersonal motor resonance in autism spectrum disorder: evidence against a global "mirror system" deficit. (23734121)
2013
15
The relation between language regression and social communicative development of children with autism spectrum disorder. (24408339)
2013
16
Gaze aversion during social style interactions in autism spectrum disorder and Williams syndrome. (23123875)
2013
17
Perinatal air pollutant exposures and autism spectrum disorder in the children of nurses' health study II participants. (23816781)
2013
18
Improving treatment of children with autism spectrum disorder in low- and middle-income countries: the role of non-specialist care providers. (24358030)
2013
19
Autism spectrum disorders in babies born to mothers with antiphospholipid syndrome. (23910451)
2013
20
Media use and sleep among boys with autism spectrum disorder, ADHD, or typical development. (24249825)
2013
21
Utahns' understanding of autism spectrum disorder. (23260611)
2013
22
Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes. (23937369)
2013
23
The Clinical Implications of High Levels of Autism Spectrum Disorder Features in Anorexia Nervosa: A Pilot Study. (24277715)
2013
24
The effect of DSM-5 criteria on the developmental quotient in toddlers diagnosed with autism spectrum disorder. (23031060)
2013
25
Early diagnosis of autism spectrum disorder: stability and change in clinical diagnosis and symptom presentation. (23078094)
2013
26
Enhancing work outcomes of employees with autism spectrum disorder through leadership: Leadership for employees with autism spectrum disorder. (23886575)
2013
27
Clinical outcomes of an early intervention program for preschool children with Autism Spectrum Disorder in a community group setting. (23294523)
2013
28
Longitudinal change in the use of services in autism spectrum disorder: Understanding the role of child characteristics, family demographics, and parent cognitions. (24108191)
2013
29
Sensory processing and motor skill performance in elementary school children with autism spectrum disorder. (23829146)
2013
30
A Review of Cardiac Autonomic Measures: Considerations for Examination of Physiological Response in Children with Autism Spectrum Disorder. (24154761)
2013
31
Fragile X Syndrome: Clinical, Cytogenetics and Molecular Screening among Autism Spectrum Disorder Children in Indonesia. (23320543)
2013
32
Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. (23715297)
2013
33
Alterations in sensitivity to estrogen, dihydrotestosterone, and xenogens in B-lymphocytes from children with autism spectrum disorder and their unaffected twins/siblings. (24363669)
2013
34
Social Information Processing in Preschool Children Diagnosed with Autism Spectrum Disorder. (24005986)
2013
35
Severe Multisensory Speech Integration Deficits in High-Functioning School-Aged Children with Autism Spectrum Disorder (ASD) and Their Resolution During Early Adolescence. (23985136)
2013
36
PTEN signaling in autism spectrum disorders. (22664040)
2012
37
Gene expression in blood is associated with risperidone response in children with autism spectrum disorders. (21647175)
2012
38
Application of DSM-5 criteria for autism spectrum disorder to three samples of children with DSM-IV diagnoses of pervasive developmental disorders. (23032385)
2012
39
Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. (22578327)
2012
40
Effects on resilience of caregivers of persons with autism spectrum disorder: the role of positive cognitions. (23139377)
2012
41
Gene and miRNA expression profiles in autism spectrum disorders. (20868653)
2011
42
Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. (20375269)
2010
43
Association of MET with social and communication phenotypes in individuals with autism spectrum disorder. (19548256)
2010
44
Serotonin transporter genotype and neuroanatomy in autism spectrum disorders. (19369912)
2009
45
Multiple rare variants in the etiology of autism spectrum disorders. (19432386)
2009
46
15q11-13 GABAA receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. (17339270)
2007
47
The transmission disequilibrium test suggests that HLA-DR4 and DR13 are linked to autism spectrum disorder. (12039413)
2002
48
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. (12192642)
2002
49
Rat model of autism spectrum disorders. Genetic background effects on Borna disease virus-induced developmental brain damage. (11462786)
2001
50
A screening questionnaire for Asperger syndrome and other high-functioning autism spectrum disorders in school age children. (10382133)
1999

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