ASD
MCID: ATS007
MIFTS: 57

Autism Spectrum Disorder (ASD) malady

Summaries for Autism Spectrum Disorder

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8Disease Ontology, 42NIH Rare Diseases, 3CDC, 63Wikipedia, 19GeneReviews, 32MalaCards
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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

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Sources:
8Disease Ontology, 60UMLS, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR
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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

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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 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

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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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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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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32MalaCards
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MalaCards organs/tissues related to Autism Spectrum Disorder:

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

Animal Models for Autism Spectrum Disorder or affiliated genes

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Sources:
36MGI
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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

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Sources:
50PubMed
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Articles related to Autism Spectrum Disorder:

(show top 50)    (show all 787)
idTitleAuthorsYear
1
Highly resilient coping entails better perceived health, high social support and low morning cortisol levels in parents of children with autism spectrum disorder. (24405793)
2014
2
Autism spectrum disorder severity as a predictor of Battelle Developmental Inventory - Second Edition (BDI-2) scores in toddlers. (24088047)
2014
3
Neuroimaging Findings in 41 Low-Functioning Children With Autism Spectrum Disorder: A Single-Center Experience. (24346312)
2013
4
Perceptual factors influence visual search for meaningful symbols in individuals with intellectual disabilities and Down syndrome or autism spectrum disorders. (24245729)
2013
5
Features of feeding difficulty in children with Autism Spectrum Disorder. (24001171)
2013
6
Neurocognitive functioning in adolescents with autism spectrum disorder. (23104618)
2013
7
Differences in Social Vulnerability among Individuals with Autism Spectrum Disorder, Williams Syndrome, and Down Syndrome. (23745132)
2013
8
Genomics and autism spectrum disorder. (23368711)
2013
9
Childhood vision impairment, hearing loss and co-occurring autism spectrum disorder. (24060256)
2013
10
Psychometric assessment of the depressive cognition scale among caregivers of persons with autism spectrum disorder. (23540520)
2013
11
Assessing the minimally verbal school-aged child with autism spectrum disorder. (24353165)
2013
12
Identification of unique gene expression profile in children with regressive autism spectrum disorder (ASD) and ileocolitis. (23520485)
2013
13
A quarter century of progress on the early detection and treatment of autism spectrum disorder. (24342850)
2013
14
Lower Electrodermal Activity to Acute Stress in Caregivers of People with Autism Spectrum Disorder: An Adaptive Habituation to Stress. (24221817)
2013
15
Autonomic arousal explains social cognitive abilities in high-functioning adults with autism spectrum disorder. (23628291)
2013
16
Therapeutic role of hematopoietic stem cells in autism spectrum disorder-related inflammation. (23772227)
2013
17
Motor, emotional, and cognitive empathy in children and adolescents with autism spectrum disorder and conduct disorder. (23096764)
2013
18
Association between severity of behavioral phenotype and comorbid attention deficit hyperactivity disorder symptoms in children with autism spectrum disorders. (23739542)
2013
19
Automatic facial responses to briefly presented emotional stimuli in autism spectrum disorder. (23998995)
2013
20
Autism spectrum disorder and the cerebellum. (24290381)
2013
21
Strategies for Perceiving Facial Expressions in Adults with Autism Spectrum Disorder. (24077783)
2013
22
Automatic facial responses to affective stimuli in high-functioning adults with autism spectrum disorder. (23142408)
2013
23
Increasing social engagement in children with high-functioning autism spectrum disorder using collaborative technologies in the school environment. (23614935)
2013
24
Brief Report: Episodic Foresight in Autism Spectrum Disorder. (23893099)
2013
25
QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders. (22105621)
2013
26
Adolescents with Autism Spectrum Disorder Show a Circumspect Reasoning Bias Rather than 'Jumping-to-Conclusions' (24002414)
2013
27
Rearrangement of the dendritic morphology in limbic regions and altered exploratory behavior in a rat model of autism spectrum disorder. (23535253)
2013
28
Co-morbidity and factor analysis on attention deficit hyperactivity disorder and autism spectrum disorder DSM-IV-derived items. (23267399)
2012
29
Individual differences in the efficacy of a short theory of mind intervention for children with autism spectrum disorder: a randomized controlled trial. (23140338)
2012
30
Reactive aggression among children with and without autism spectrum disorder. (23263769)
2012
31
The perceptions and experiences of adolescent siblings who have a brother with autism spectrum disorder. (23171311)
2012
32
A discovery resource of rare copy number variations in individuals with autism spectrum disorder. (23275889)
2012
33
Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome. (21130877)
2012
34
Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology. (21994763)
2012
35
Cut-like homeobox 1 and nuclear factor I/B mediate ENGRAILED2 autism spectrum disorder-associated haplotype function. (22180456)
2012
36
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. (22346768)
2012
37
SHANK1 Deletions in Males with Autism Spectrum Disorder. (22503632)
2012
38
Is neonatal jaundice associated with Autism Spectrum Disorders: a systematic review. (22009628)
2011
39
SNAP-25 single nucleotide polymorphisms are associated with hyperactivity in autism spectrum disorders. (21497654)
2011
40
2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders. (21750575)
2011
41
Prader-Willi syndrome and autism spectrum disorders: an evolving story. (21858456)
2011
42
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. (21656903)
2011
43
Do candidate genes discriminate patients with an autism spectrum disorder from those with attention deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders? (20446882)
2010
44
Parent-child DRD4 genotype as a potential biomarker for oppositional, anxiety, and repetitive behaviors in children with autism spectrum disorder. (20600463)
2010
45
The effect of seizure disorder on symptom presentation in atypically developing children and children with autism spectrum disorders based on the BDI-2. (20828327)
2010
46
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. (19278672)
2009
47
Association of COMT (Val158Met) and BDNF (Val66Met) gene polymorphisms with anxiety, ADHD and tics in children with autism spectrum disorder. (19582565)
2009
48
Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study. (19046189)
2008
49
Genetic evidence implicating multiple genes in the MET receptor tyrosine kinase pathway in autism spectrum disorder. (19360663)
2008
50
A de novo apparently balanced translocation [46,XY,t(2;9)(p13;p24)] interrupting RAB11FIP5 identifies a potential candidate gene for autism spectrum disorder. (18384058)
2008

Genetic Variations for Autism Spectrum Disorder

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Expression for genes affiliated with Autism Spectrum Disorder

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1BioGPS, 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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29KEGG
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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

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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
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:03517611.0NLGN3, NLGN4X, SHANK3
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 4 developmentGO:02157010.9HOXA1, HOXB1
6rhombomere 5 developmentGO:02157110.9HOXB1, HOXA1
7facial nerve structural organizationGO:02161210.8HOXB1, HOXA1
8vocalization behaviorGO:07162510.8SHANK3, NLGN4X
9presynaptic membrane assemblyGO:09710510.8NLGN4X, NLGN3
10regulation of dendritic spine morphogenesisGO:06100110.8SHANK3, NLGN3
11positive regulation of excitatory postsynaptic membrane potentialGO:200046310.7SHANK3, NLGN3
12neuron cell-cell adhesionGO:00715810.7CNTN4, NLGN3
13synapse organizationGO:05080810.7NLGN4X, NLGN3
14positive regulation of synaptic transmission, glutamatergicGO:05196810.6NLGN3, SHANK3
15cognitionGO:05089010.3HOXA1, PTCHD1

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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Sources for Autism Spectrum Disorder

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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