ASD
MCID: ATS007
MIFTS: 59

Autism Spectrum Disorder (ASD) malady

Genetic category

Summaries for Autism Spectrum Disorder

Sources:
8Disease Ontology, 43NIH Rare Diseases, 3CDC, 64Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 atypical autism and asperger syndrome, and has symptoms including widespread abnormalities of social interactions, severely restricted interests and highly repetitive behavior. 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 skin, brain and whole blood, 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:64 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

Sources:
8Disease Ontology, 61UMLS, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

autism spectrum disorder 8
autism spectrum disorders 19 43 20 22 61
hereditary hemolytic-uremic syndrome 19
familial hemolytic-uremic syndrome 19
pervasive development disorder 61
atypical hus 19
ahus 19
asd 43


External Ids:

Disease Ontology8 DOID:0060041

Related Diseases for Autism Spectrum Disorder

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Autism Spectrum Disorder family:

autism with port-wine stain 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 148)
idRelated DiseaseScoreTop Affiliating Genes
1atypical autism31.0NLGN3, NLGN4X
2asperger syndrome30.9SHANK3, NLGN3, NLGN4X
3autistic disorder30.8NLGN4X, NLGN3, HOXA1
4mental retardation30.6NLGN4X, NLGN3, SNRPN, SHANK3, HOXA1
5attention deficit hyperactivity disorder10.8
6anxiety disorder10.7
7developmental disabilities10.7
8speech disorder10.6
9williams syndrome10.5
10n syndrome10.5
11hemolytic-uremic syndrome10.5
12rett syndrome10.4
13sleep disorder10.4
14char syndrome10.4
15tuberous sclerosis10.4
16conduct disorder10.4
17developmental coordination disorder10.4
18prader-willi syndrome10.4
19brain disease10.4
20micro syndrome10.4
21seizure disorder10.4
22rubella10.3
23neurofibromatosis10.3
24obsessive-compulsive disorder10.3
25tic disorder10.3
26childhood-onset schizophrenia10.3
27insomnia10.3
28thrombotic thrombocytopenic purpura10.3
29smith-lemli-opitz syndrome10.2
30angelman syndrome10.2
31borna disease10.2
32measles10.2
33anorexia nervosa10.2
34mumps10.2
35astrocytoma10.2
36bipolar disorder10.2
37tuberous sclerosis complex10.2
38pilocytic astrocytoma10.2
39autism 1010.2
40memory impairment10.2
41autism spectrum disorder due to auts2 deficiency10.2
42atypical hemolytic-uremic syndrome10.2
43short syndrome10.2
44complement factor h deficiency10.2
45complement factor d deficiency10.2
46nephrotic syndrome, type 710.2
47patent foramen ovale10.2
48atrial septal defect 810.1
49hemolytic uremic syndrome, atypical 210.1
50camurati-engelmann disease10.1

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



Diseases related to autism spectrum disorder

Clinical Features for Autism Spectrum Disorder

Sources:
8Disease Ontology
See all sources


Symptoms:

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

Drugs & Therapeutics for Autism Spectrum Disorder

Sources:
5CenterWatch, 42NIH 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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Autism Spectrum Disorder:

33
Skin, Brain, Whole blood, Cortex, Cerebellum, Heart, Myeloid, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Prefrontal cortex, Temporal lobe, Occipital lobe, Amygdala

Animal Models for Autism Spectrum Disorder or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Autism Spectrum Disorder:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363111.3EN2, NLGN3, SHANK2, SHANK3, NRXN3, CNTN4
2MP:000301211.0NLGN3, SHANK2, SHANK3, NRXN3, HOXB1, HOXA1
3MP:000538611.0EN2, NLGN3, SEZ6L2, GPR50, SNRPN, HOXA1

Publications for Autism Spectrum Disorder

Sources:
51PubMed
See all sources

Articles related to Autism Spectrum Disorder:

(show top 50)    (show all 788)
idTitleAuthorsYear
1
Investigating the cross-cultural validity of DSM-5 autism spectrum disorder: Evidence from Finnish and UK samples. (24113342)
2014
2
Serum level of desert hedgehog protein in autism spectrum disorder: preliminary results. (24009062)
2014
3
Lexical and semantic ability in groups of children with cochlear implants, language impairment and autism spectrum disorder. (24332667)
2014
4
Improving Maternal Mental Health After a Child's Diagnosis of Autism Spectrum Disorder: Results From a Randomized Clinical Trial. (24217336)
2014
5
Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome. (23792373)
2013
6
Activity-dependent neuronal signalling and autism spectrum disorder. (23325215)
2013
7
Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder. (23838695)
2013
8
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. (23336697)
2013
9
Recollection in adolescents with Autism Spectrum Disorder. (23107379)
2013
10
Pivotal response treatment for children with autism spectrum disorder: A systematic review of research quality. (24180635)
2013
11
An intervention to improve social participation for adolescents with autism spectrum disorder: Pilot study. (24206240)
2013
12
Video game use in boys with autism spectrum disorder, ADHD, or typical development. (23897915)
2013
13
Examining the comorbidity of bipolar disorder and autism spectrum disorders: a large controlled analysis of phenotypic and familial correlates in a referred population of youth with bipolar I disorder with and without autism spectrum disorders. (23842009)
2013
14
Understanding advanced theory of mind and empathy in high-functioning adults with autism spectrum disorder. (23799244)
2013
15
Anterior prefrontal hemodynamic connectivity in conscious 3- to 7-year-old children with typical development and autism spectrum disorder. (23418517)
2013
16
The group-based social skills training SOSTA-FRA in children and adolescents with high functioning autism spectrum disorder--study protocol of the randomised, multi-centre controlled SOSTA--net trial. (23289935)
2013
17
Self-Assessed Health in Caregivers of Persons With Autism Spectrum Disorder: Associations With Depressive Symptoms, Positive Cognitions, Resourcefulness, and Well-Being. (24206628)
2013
18
Recall of a live and personally experienced eyewitness event by adults with autism spectrum disorder. (23229454)
2013
19
Atypical brain lateralisation in the auditory cortex and language performance in 3- to 7-year-old children with high-functioning autism spectrum disorder: a child-customised magnetoencephalography (MEG) study. (24103585)
2013
20
Explicit versus implicit social cognition testing in autism spectrum disorder. (24104519)
2013
21
Is Medication Information for Children with Autism Spectrum Disorder Monitored and Coordinated Across Professionals? Findings from a Teacher Survey. (23526921)
2013
22
A Meta-Analysis of Mentalizing Impairments in Adults With Schizophrenia and Autism Spectrum Disorder. (23686020)
2013
23
SHANK3 as an autism spectrum disorder-associated gene. (22749736)
2013
24
The effect of a picture activity schedule on performance of the MABC-2 for children with autism spectrum disorder. (23930546)
2013
25
Immigrant Children with Autism Spectrum Disorder: The Relationship between the Perspective of the Professionals and the Parents' Point of View. (23667359)
2013
26
Directing attention based on incidental learning in children with autism spectrum disorder. (23527644)
2013
27
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. (23334464)
2013
28
Speech preference is associated with autistic-like behavior in 18-months-olds at risk for Autism Spectrum Disorder. (23334808)
2013
29
Management of children with autism spectrum disorder in the dental setting: concerns, behavioural approaches and recommendations. (23986012)
2013
30
Rigid-Compulsive Behaviors are Associated with Mixed Bowel Symptoms in Autism Spectrum Disorder. (24293040)
2013
31
Assessment of quality of life in children and youth with autism spectrum disorder: a critical review. (24310317)
2013
32
Parental reports on early language and motor milestones in fragile X syndrome with and without autism spectrum disorders. (23249372)
2013
33
Self-report and caregiver-report of sleep and psychopathology in children with high-functioning autism spectrum disorder: A pilot study. (24087935)
2013
34
Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder. (24290388)
2013
35
Gastrointestinal conditions in children with autism spectrum disorder: developing a research agenda. (23118247)
2012
36
A detailed association analysis between the tryptophan hydroxylase 2 (TPH2) gene and autism spectrum disorders in a Japanese population. (22361444)
2012
37
Relationship between Sonic hedgehog protein, brain-derived neurotrophic factor and oxidative stress in autism spectrum disorders. (21984201)
2012
38
Investigating the Relationship between Self-Injurious Behavior, Social Deficits, and Cooccurring Behaviors in Children and Adolescents with Autism Spectrum Disorder. (23193469)
2012
39
Infantile cerebellar pilocytic astrocytoma with autism spectrum disorder. (22791126)
2012
40
Autism spectrum disorders and developmental disabilities in children from immigrant families in the United States. (23118251)
2012
41
State-dependent changes of connectivity patterns and functional brain network topology in autism spectrum disorder. (23044278)
2012
42
Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex. (22683681)
2012
43
Common genetic variation in the GAD1 gene and the entire family of DLX homeobox genes and autism spectrum disorders. (21302352)
2011
44
Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. (21403110)
2011
45
Anxiety symptoms in boys with autism spectrum disorder, attention-deficit hyperactivity disorder, or chronic multiple tic disorder and community controls. (20143146)
2010
46
Mutation screening of melatonin-related genes in patients with autism spectrum disorders. (20377855)
2010
47
Analysis of serotonin receptor 2A gene (HTR2A): association study with autism spectrum disorder in the Indian population and investigation of the gene expression in peripheral blood leukocytes. (19647026)
2009
48
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders. (18393381)
2008
49
The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders. (17340203)
2008
50
Association of the DAO and DAOA gene polymorphisms with autism spectrum disorders in boys in Korea: a preliminary study. (17629951)
2007

Genetic Variations for Autism Spectrum Disorder

Expression for genes affiliated with Autism Spectrum Disorder

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

Sources:
30KEGG
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

GO Terms for genes affiliated with Autism Spectrum Disorder

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

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  • Antibodies

Sources for Autism Spectrum Disorder

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet