ASD
MCID: ATS007
MIFTS: 59

Autism Spectrum Disorder (ASD) malady

Genetic diseases, Rare diseases, Fetal diseases categories
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Summaries for Autism Spectrum Disorder

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8Disease Ontology, 43NIH Rare Diseases, 4CDC, 65Wikipedia, 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 intellectual disability and asperger syndrome, 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 are Cell adhesion molecules (CAMs) and GABA signaling in brain. Affiliated tissues include brain, eye and amygdala, and related mouse phenotypes are no phenotypic analysis and nervous system.

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:4 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:65 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

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Sources:
8Disease Ontology, 62UMLS, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases


Aliases & Descriptions:

autism spectrum disorder 8
autism spectrum disorders 19 43 20 22 62
pervasive development disorder 62
asd 43


External Ids:

Disease Ontology8 DOID:0060041

Related Diseases for Autism Spectrum Disorder

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Sources:
17GeneCards, 18GeneDecks
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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 136)
idRelated DiseaseScoreTop Affiliating Genes
1intellectual disability31.1SHANK3, NLGN4X
2asperger syndrome31.0NLGN4X, NLGN3, SHANK3
3prader-willi syndrome30.6SNRPN, AGRP
4mental retardation30.6NLGN4X, NLGN3, SNRPN, SHANK3
5atypical autism30.5NLGN3, NLGN4X
6autistic disorder30.4NLGN4X, NLGN3
7attention deficit hyperactivity disorder10.8
8fragile x syndrome10.7
9schizophrenia10.7
10developmental disabilities10.7
11williams syndrome10.5
12rett syndrome10.5
13neuronitis10.4
14tuberous sclerosis10.4
15cerebritis10.4
16down syndrome10.4
17learning disability10.4
18blindness10.4
19rubella10.3
20neurofibromatosis10.3
21developmental coordination disorder10.3
22cerebral palsy10.3
23fetal alcohol spectrum disorder10.3
24childhood-onset schizophrenia10.3
25insomnia10.3
26patent foramen ovale10.3
27obsessive-compulsive disorder10.3
28borna disease10.3
29conduct disorder10.3
30measles10.3
31anorexia nervosa10.3
32mumps10.3
33bipolar i disorder10.3
34smith-lemli-opitz syndrome10.3
35astrocytoma10.3
36bipolar disorder10.3
37eating disorder10.3
38gender identity disorder10.3
39tic disorder10.3
40tuberous sclerosis complex10.3
41pilocytic astrocytoma10.3
42brain injury10.3
43endotheliitis10.3
44atrial septal defect ostium primum10.2
45angelman syndrome10.1
46williams-beuren syndrome10.1
47antiphospholipid syndrome10.1
48timothy syndrome10.1
49oppositional defiant disorder10.1
50charge syndrome10.1

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



Diseases related to autism spectrum disorder

Symptoms for Autism Spectrum Disorder

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8Disease Ontology
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Symptoms:

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

Drugs & Therapeutics for Autism Spectrum Disorder

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Autism Spectrum Disorder

Search NIH Clinical Center for Autism Spectrum Disorder

Genetic Tests for Autism Spectrum Disorder

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Sources:
20GeneTests, 22GTR
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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

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33MalaCards
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MalaCards organs/tissues related to Autism Spectrum Disorder:

33
Brain, Eye, Amygdala, Testes, Cortex, Skin, Endothelial, Prefrontal cortex, Cerebellum, Myeloid, Heart

Animal Models for Autism Spectrum Disorder or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Autism Spectrum Disorder:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.7AGRP, HOXD@, SHANK2, SHANK3, NRXN3, NLGN3
2MP:00036319.5SHANK2, SHANK3, DRD5, NRXN3, NLGN3, EN2
3MP:00028739.5HOXD@, LRRTM1, SNRPN, DRD5, NRXN3, NLGN3
4MP:00053869.2LRRTM1, SHANK2, SHANK3, SNRPN, CARTPT, NLGN3

Publications for Autism Spectrum Disorder

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Sources:
52PubMed
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Articles related to Autism Spectrum Disorder:

(show top 50)    (show all 778)
idTitleAuthorsYear
1
A blueprint for research on Shankopathies: A view from research on autism spectrum disorder. (24218108)
2014
2
The relationship of motor skills and social communicative skills in school-aged children with autism spectrum disorder. (23860508)
2013
3
Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome. (23792373)
2013
4
Abnormality in face scanning by children with autism spectrum disorder is limited to the eye region: evidence from multi-method analyses of eye tracking data. (23929830)
2013
5
Intrinsic gray-matter connectivity of the brain in adults with autism spectrum disorder. (23878213)
2013
6
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. (23615299)
2013
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
Safely transporting children with autism spectrum disorder: evaluation and intervention. (24195905)
2013
10
Copy-number variation in the pathogenesis of autism spectrum disorder. (24372918)
2013
11
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
12
Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder. (24155217)
2013
13
Speech intonation in children with autism spectrum disorder. (23973369)
2013
14
MTHFR 1298A>C is a risk factor for autism spectrum disorder in the Korean population. (24295761)
2013
15
Perceptual factors influence visual search for meaningful symbols in individuals with intellectual disabilities and Down syndrome or autism spectrum disorders. (24245729)
2013
16
Follow-up at mid-school age (9-13 years) of children assessed for autism spectrum disorder before the age of four. (24199947)
2013
17
Autonomic Responses to Social and Nonsocial Pictures in Adolescents With Autism Spectrum Disorder. (24022989)
2013
18
Autism spectrum disorder symptomatology in children with neurofibromatosis type 1. (23320572)
2013
19
Group-based social skills interventions for adolescents with higher-functioning autism spectrum disorder: a review and looking to the future. (23956616)
2013
20
Tract-based spatial statistics reveal altered relationship between non-verbal reasoning abilities and white matter integrity in autism spectrum disorder. (23561717)
2013
21
Developing zebrafish models of autism spectrum disorder (ASD). (24315837)
2013
22
Pet Dog Ownership Decisions for Parents of Children With Autism Spectrum Disorder. (24183985)
2013
23
ADHD, autism spectrum disorder, temperament, and character: phenotypical associations and etiology in a Swedish childhood twin study. (23790516)
2013
24
Features of feeding difficulty in children with Autism Spectrum Disorder. (24001171)
2013
25
Development and Evaluation of Educational Materials for Pre-hospital and Emergency Department Personnel on the Care of Patients with Autism Spectrum Disorder. (24091472)
2013
26
Self-injurious behaviours are associated with alterations in the somatosensory system in children with autism spectrum disorder. (23644587)
2013
27
Atypical pupillary light reflex and heart rate variability in children with autism spectrum disorder. (23248075)
2013
28
Abnormal pre-attentive arousal in young children with autism spectrum disorder contributes to their atypical auditory behavior: an ERP study. (23935931)
2013
29
Proposed changes to the American Psychiatric Association diagnostic criteria for autism spectrum disorder: implications for young children and their families. (23456348)
2013
30
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. (23335808)
2013
31
Infertility and its treatments in association with autism spectrum disorders: a review and results from the CHARGE study. (23965925)
2013
32
Activity-dependent neuronal signalling and autism spectrum disorder. (23325215)
2013
33
Co-morbidity and factor analysis on attention deficit hyperactivity disorder and autism spectrum disorder DSM-IV-derived items. (23267399)
2012
34
Psychiatric-related emergency department visits among children with an autism spectrum disorder. (23187983)
2012
35
Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population. (22378669)
2012
36
Visual Scanning Patterns during the Dimensional Change Card Sorting Task in Children with Autism Spectrum Disorder. (23050145)
2012
37
PTEN signaling in autism spectrum disorders. (22664040)
2012
38
Gene and miRNA expression profiles in autism spectrum disorders. (20868653)
2011
39
HLA polymorphisms in Italian children with autism spectrum disorders: results of a family based linkage study. (21084121)
2011
40
Congenital rubella syndrome and autism spectrum disorder prevented by rubella vaccination--United States, 2001-2010. (21592401)
2011
41
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. (21114665)
2011
42
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. (21981781)
2011
43
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. (20678249)
2010
44
Decreased serum arylesterase activity in autism spectrum disorders. (20488557)
2010
45
Anxiety symptoms in boys with autism spectrum disorder, attention-deficit hyperactivity disorder, or chronic multiple tic disorder and community controls. (20143146)
2010
46
Family-based association study between NOS-I and -IIA polymorphisms and autism spectrum disorders in Korean trios. (18563708)
2009
47
Disruption of neurexin 1 associated with autism spectrum disorder. (18179900)
2008
48
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders. (18393381)
2008
49
Re-examining the core features of autism: a comparison of autism spectrum disorder and fetal alcohol spectrum disorder. (17995487)
2007
50
Autism spectrum disorders associated with X chromosome markers in French-Canadian males. (16261168)
2006

Variations for Autism Spectrum Disorder

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Expression for genes affiliated with Autism Spectrum Disorder

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 30KEGG, 12EMD Millipore, 54R&D Systems
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Pathways related to Autism Spectrum Disorder according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2NLGN4X, NLGN3, NRXN3
2
Show member pathways
10.2NLGN4X, NLGN3, NRXN3

Compounds for genes affiliated with Autism Spectrum Disorder

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GO Terms for genes affiliated with Autism Spectrum Disorder

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16Gene Ontology
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Cellular components related to Autism Spectrum Disorder according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:03152610.3SHANK2, DRD5
2excitatory synapseGO:06007610.0NLGN4X, NLGN3, LRRTM1
3ciliary membraneGO:06017010.0SHANK3, SHANK2
4postsynaptic membraneGO:0452119.8LRRTM1, LRRTM3, SHANK2, SHANK3, NLGN4X
5cell junctionGO:0300549.8NLGN4X, NLGN3, SHANK3, SHANK2, LRRTM3, LRRTM1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of long-term synaptic potentiationGO:190027110.5SHANK3, NLGN3
2positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activityGO:200096910.5NLGN3, SHANK3
3presynaptic membrane assemblyGO:09710510.4NLGN3, NLGN4X
4neuron cell-cell adhesionGO:00715810.4NRXN3, NLGN3, NLGN4X
5regulation of dendritic spine morphogenesisGO:06100110.4SHANK3, NLGN3
6synapse assemblyGO:00741610.3NLGN3, NRXN3, SHANK3, SHANK2
7synapse organizationGO:05080810.3NLGN4X, NLGN3, LRRTM1
8positive regulation of excitatory postsynaptic membrane potentialGO:200046310.3NLGN3, SHANK3
9adult feeding behaviorGO:00834310.3CARTPT, AGRP
10vocalization behaviorGO:07162510.3NLGN4X, NLGN3, NRXN3, SHANK3, SHANK2
11adult behaviorGO:03053410.3SHANK2, SHANK3, NRXN3, NLGN3, NLGN4X
12positive regulation of synapse assemblyGO:05196510.3NLGN3, NRXN3
13social behaviorGO:03517610.3SHANK2, SHANK3, NRXN3, NLGN3, NLGN4X
14learningGO:00761210.2SHANK2, SHANK3, NRXN3, NLGN3, NLGN4X
15long term synaptic depressionGO:06029210.2SHANK2, DRD5
16positive regulation of synaptic transmission, glutamatergicGO:05196810.0NLGN3, SHANK3

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

idNameGO IDScoreTop Affiliating Genes
1GKAP/Homer scaffold activityGO:03016010.3SHANK3, SHANK2
2cell adhesion molecule bindingGO:05083910.2NLGN4X, NLGN3, NRXN3
3neurexin family protein bindingGO:04204310.2NLGN3, NLGN4X
4receptor activityGO:00487210.2NLGN4X, NLGN3, NRXN3
5ionotropic glutamate receptor bindingGO:03525510.0SHANK3, SHANK2

Products for genes affiliated with Autism Spectrum Disorder

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Sources for Autism Spectrum Disorder

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet