ASD
MCID: ATS007
MIFTS: 65

Autism Spectrum Disorder (ASD) malady

Categories: Rare diseases, Genetic diseases, Mental diseases

Aliases & Classifications for Autism Spectrum Disorder

Aliases & Descriptions for Autism Spectrum Disorder:

Name: Autism Spectrum Disorder 12 50 51 41 14
Autism Spectrum Disorders 24 29 69
Pervasive Development Disorder 69
Pdds 24
Asd 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0060041

Summaries for Autism Spectrum Disorder

MedlinePlus : 41 autism spectrum disorder (asd) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person's life. it affects how a person acts and interacts with others, communicates, and learns. it includes what used to be known as asperger syndrome and pervasive developmental disorders. it is called a "spectrum" disorder because people with asd can have a range of symptoms. people with asd might have problems talking with you, or they might not look you in the eye when you talk to them. they may also have restricted interests and repetitive behaviors. they may spend a lot of time putting things in order, or they may say the same sentence again and again. they may often seem to be in their "own world." at well-child checkups, the health care provider should check your child's development. if there are signs of asd, your child will have a comprehensive evaluation. it may include a team of specialists, doing various tests and evaluations to make a diagnosis. the causes of asd are not known. research suggests that both genes and environment play important roles. there is currently no one standard treatment for asd. there are many ways to increase your child's ability to grow and learn new skills. starting them early can lead to better results. treatments include behavior and communication therapies, skills training, and medicines to control symptoms. nih: national institute of child health and human development

MalaCards based summary : Autism Spectrum Disorder, also known as autism spectrum disorders, is related to adnp-related intellectual disability and autism spectrum disorder and autism spectrum disorder susceptibility, chd8-related, 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 EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. The drugs Aripiprazole and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are behavior/neurological and growth/size/body region

NIH Rare Diseases : 50 autism spectrum disorder (asd) is a condition that affects the development of social and communication skills. it includes features of four conditions which were once thought to be separate syndromes - autistic disorder, asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder. signs and symptoms often become apparent in the first 2-3 years of life and vary significantly from person to person. common symptoms shared by people with asd include restrictive and repetitive behaviors, social impairment and communication difficulties. the underlying cause of asd is generally unknown and it is likely that a variety of factors contribute to the development of the condition. asd appears to run in some families, suggesting that genetics may play a role in some cases. although there is no cure for asd, treatment is available that significantly improves the long-term outlook for affected people. treatment often includes a combination of techniques such as medications, occupational therapy, speech therapy and physical therapy. last updated: 12/1/2016

NINDS : 51 Autistic disorder (sometimes called autism or classical ASD) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs).

Disease Ontology : 12 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.

Wikipedia : 71 Autism spectrum describes a range of conditions classified as neurodevelopmental disorders in the DSM-5,... more...

Related Diseases for Autism Spectrum Disorder

Diseases in the Autism Spectrum Disorder family:

Autism 19 Autism 9
Autism 10 Autism 18

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

(show top 50) (show all 156)
id Related Disease Score Top Affiliating Genes
1 adnp-related intellectual disability and autism spectrum disorder 12.2
2 autism spectrum disorder susceptibility, chd8-related 12.0
3 autism spectrum disorder susceptibility, kmt5b-related 12.0
4 intellectual disability and/or autism spectrum disorder, ash1l-related 12.0
5 patent foramen ovale 11.8
6 adnp syndrome 11.7
7 arthrogryposis, mental retardation, and seizures 11.5
8 helsmoortel-van der aa syndrome 11.5
9 asperger syndrome 11.5
10 pervasive developmental disorder 11.3
11 fragile x syndrome 11.2
12 rett syndrome 11.1
13 specific language impairment 11.1
14 chromosome 15q13.3 microdeletion syndrome 11.1
15 16p11.2 duplication 11.1
16 mental retardation, autosomal recessive 38 11.0
17 mental retardation, autosomal dominant 26 11.0
18 childhood disintegrative disease 10.9
19 chromosome 15q11.2 deletion syndrome 10.9
20 atypical autism 10.9
21 specific language impairment 5 10.9
22 epilepsy, familial focal, with variable foci 10.9
23 timothy syndrome 10.9
24 autism x-linked 4 10.9
25 syngap1-related intellectual disability 10.9
26 autism x-linked 5 10.8
27 autism 9 10.8
28 epsilon-trimethyllysine hydroxylase deficiency 10.8
29 autism susceptibility 15 10.8
30 hivep2-related intellectual disability 10.8
31 autism 10 10.8
32 schaaf-yang syndrome 10.8
33 47,xyy syndrome 10.8
34 macrocephaly/autism syndrome 10.8
35 chromosome 16p13.3 duplication syndrome 10.8
36 syngap1-related non-syndromic intellectual disability 10.8
37 potocki-lupski syndrome 10.8
38 cask-related disorders 10.8
39 chromosome 2q37 deletion syndrome 10.8
40 chromosome 1q21.1 deletion syndrome 10.8
41 autism susceptibility 16 10.8
42 16p11.2 deletion syndrome 10.8
43 speech and communication disorders 10.8
44 epilepsy, familial focal with variable foci 2 10.8
45 autism susceptibility 17 10.8
46 autistic disorder 10.8
47 16q24.3 microdeletion syndrome 10.8
48 autism susceptibility, x-linked 2 10.8
49 autosomal dominant intellectual disability 30 10.8
50 pervasive developmental disorder not otherwise specified 10.8

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



Diseases related to Autism Spectrum Disorder

Symptoms & Phenotypes for Autism Spectrum Disorder

Symptoms:

12
  • widespread abnormalities of social interactions
  • severely restricted interests
  • highly repetitive behavior

MGI Mouse Phenotypes related to Autism Spectrum Disorder:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 SCN2A SHANK1 SHANK2 SHANK3 SLC6A4 SNRPN
2 growth/size/body region MP:0005378 9.77 AUTS2 CNTNAP2 EHMT1 FMR1 MECP2 NLGN3
3 nervous system MP:0003631 9.4 SHANK3 SLC6A4 CNTNAP2 EHMT1 FMR1 MECP2

Drugs & Therapeutics for Autism Spectrum Disorder

Drugs for Autism Spectrum Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 331)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
2
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
3
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 19982-08-2 4054
4
Methylphenidate Approved, Investigational Phase 4,Phase 2,Phase 3 113-45-1 4158
5
Oxytocin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-56-6 439302 53477758
6
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
7
Milnacipran Approved Phase 4 92623-85-3 65833
8
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
9
Olanzapine Approved, Investigational Phase 4,Phase 2 132539-06-1 4585
10
Risperidone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 106266-06-2 5073
11
Ziprasidone Approved Phase 4,Phase 3,Phase 2 146939-27-7 60854
12
Donepezil Approved Phase 4,Phase 1,Phase 2 120014-06-4 3152
13
Acetylcysteine Approved, Investigational Phase 4,Phase 2 616-91-1 12035
14
Acetylcholine Approved Phase 4,Phase 1 51-84-3 187
15
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 73-31-4 896
16
Choline Approved, Nutraceutical Phase 4 62-49-7 305
17 Antipsychotic Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
19 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Early Phase 1
20 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
21 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Antibodies Phase 4,Phase 2
23 gamma-Globulins Phase 4,Phase 2
24 Immunoglobulins Phase 4,Phase 2
25 Immunoglobulins, Intravenous Phase 4,Phase 2
26 Rho(D) Immune Globulin Phase 4,Phase 2
27 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
28 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
30 Excitatory Amino Acids Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
31 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
32 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
33 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
34 Central Nervous System Stimulants Phase 4,Phase 3,Phase 2,Phase 1
35 Dopamine Uptake Inhibitors Phase 4,Phase 3,Phase 2
36 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
38 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
40 Antiviral Agents Phase 4,Phase 2
41 Respiratory System Agents Phase 4,Phase 2,Phase 3
42 Oxytocics Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
43 Atomoxetine Hydrochloride Phase 4,Phase 3
44 Adrenergic Agonists Phase 4,Phase 2
45 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2
46 Adrenergic alpha-Agonists Phase 4,Phase 2
47 Antihypertensive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
48 Antidepressive Agents Phase 4,Phase 3,Phase 2,Phase 1
49
Serotonin Phase 4,Phase 3,Phase 2,Phase 1 50-67-9 5202
50 Serotonin Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 593)
id Name Status NCT ID Phase
1 Study to Evaluate the Efficacy and Safety of Aripiprazole Unknown status NCT02069977 Phase 4
2 An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4
3 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4
4 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4
5 Omega-3 Fatty Acids in Autism Spectrum Disorders Completed NCT01695200 Phase 4
6 Atomoxetine Versus Placebo for Symptoms of Attention-Deficit/Hyperactivity Disorder (ADHD) in Children and Adolescents With Autism Spectrum Disorder Completed NCT00380692 Phase 4
7 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4
8 Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study Completed NCT02255565 Phase 4
9 Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism Completed NCT02235467 Phase 4
10 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4
11 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4
12 A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD Completed NCT00485849 Phase 4
13 An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. Completed NCT00391261 Phase 4
14 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4
15 A Study to Evaluate the Safety and the Effects of Risperidone Compared With Other Atypical Antipsychotic Drugs on the Growth and Sexual Maturation in Children Completed NCT01050582 Phase 4
16 Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD Recruiting NCT02096952 Phase 4
17 Gut to Brain Interaction in Autism. Role of Probiotics on Clinical, Biochemical and Neurophysiological Parameters Recruiting NCT02708901 Phase 4
18 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders Recruiting NCT01098383 Phase 4
19 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Active, not recruiting NCT01339858 Phase 4
20 Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders Enrolling by invitation NCT02940574 Phase 4
21 Melatonin CR for the Treatment of Impaired Sleep Maintenance in 4-8 Year Old Children With Autism Spectrum Disorders Terminated NCT01033565 Phase 4
22 1/2-MC4R Genotype and Pediatric Antipsychotic Drug- Induced Weight Gain Terminated NCT01844700 Phase 4
23 Oxytocin in Adolescents With Autism Spectrum Disorders Unknown status NCT02007447 Phase 2, Phase 3
24 Group Psychoeducational Program for Mothers of Children With High Functional Pervasive Developmental Disorders Unknown status NCT01243905 Phase 2, Phase 3
25 Pilot Study of Riluzole for Drug-Refractory Irritability in Autism Spectrum Disorders Completed NCT02081027 Phase 2, Phase 3
26 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3
27 Understanding Sleep Problems in Children With Autism Spectrum Disorder Completed NCT00691080 Phase 2, Phase 3
28 D-Cycloserine and Social Skills Training in Autism Spectrum Disorders Completed NCT01086475 Phase 3
29 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
30 Study of Aripiprazole in the Treatment of Pervasive Developmental Disorders Completed NCT00870727 Phase 3
31 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3
32 Supporting the Well Being of Families of Young Children With Autism Spectrum Disorders Completed NCT01021384 Phase 3
33 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00346736 Phase 3
34 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
35 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3
36 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3
37 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3
38 A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms Completed NCT00541346 Phase 3
39 Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism Completed NCT00498173 Phase 3
40 Pharmacogenomics in Autism Treatment Completed NCT00584701 Phase 2, Phase 3
41 Methylphenidate for Attention Deficit Hyperactivity Disorder and Autism in Children Completed NCT00178503 Phase 2, Phase 3
42 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3
43 Open Label Clinical Trial of Vitamin D in Children With Autism Completed NCT01535508 Phase 2, Phase 3
44 Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3
45 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3
46 Study of Paliperidone ER in Adolescents and Young Adults With Autism Completed NCT00549562 Phase 3
47 Study to Determine Whether There Are Any Cognitive or Motor Effects From Taking the Medicine Risperidone. Completed NCT00399698 Phase 3
48 Secretin for the Treatment of Autism Completed NCT00065962 Phase 3
49 Lurasidone Pediatric Autism Study Completed NCT01911442 Phase 3
50 Study of Aripiprazole in the Treatment of Serious Behavioral Problems in Children and Adolescents With Autistic Disorder (AD) Completed NCT00365859 Phase 3

Search NIH Clinical Center for Autism Spectrum Disorder

Genetic Tests for Autism Spectrum Disorder

Genetic tests related to Autism Spectrum Disorder:

id Genetic test Affiliating Genes
1 Autism Spectrum Disorders 29 24 NLGN3 NLGN4X RPL10 SHANK2 SHANK3 SNRPN

Anatomical Context for Autism Spectrum Disorder

MalaCards organs/tissues related to Autism Spectrum Disorder:

39
Brain, Eye, Testes, Cortex, Amygdala, Skin, Cerebellum

Publications for Autism Spectrum Disorder

Articles related to Autism Spectrum Disorder:

(show top 50) (show all 1088)
id Title Authors Year
1
Serum levels of Glial fibrillary acidic protein in Chinese children with autism spectrum disorders. ( 28088366 )
2017
2
Bone microarchitecture in adolescent boys with autism spectrum disorder. ( 28088646 )
2017
3
Modified-Release Methylphenidate-Related Trichotillomania in a Boy with Autism Spectrum Disorder. ( 28394174 )
2017
4
Emotion Regulation and Parent Co-Regulation in Children with Autism Spectrum Disorder. ( 28070784 )
2017
5
Social and Non-social Hazard Response in Drivers with Autism Spectrum Disorder. ( 28070791 )
2017
6
I8-3 Fatty Acid Supplementation Does Not Affect Autism Spectrum Disorder in Children: A Systematic Review and Meta-Analysis. ( 28077731 )
2017
7
Brief Report: Mealtime Behaviors of Chinese American Children with Autism Spectrum Disorder. ( 28070790 )
2017
8
Dietary adequacy of Egyptian children with autism spectrum disorder compared to healthy developing children. ( 28074329 )
2017
9
Improving Early Identification and Intervention for Children at Risk for Autism Spectrum Disorder. ( 28082407 )
2017
10
Health Care Transition Planning Among Adolescents with Autism Spectrum Disorder. ( 28078534 )
2017
11
Self-injurious behaviour in people with intellectual disability and autism spectrum disorder. ( 28030375 )
2017
12
Predictors of Self-Injurious Behavior and Self-Restraint in Autism Spectrum Disorder: Towards a Hypothesis of Impaired Behavioral Control. ( 28070787 )
2017
13
Training Parents of Youth with Autism Spectrum Disorder to Advocate for Adult Disability Services: Results from a Pilot Randomized Controlled Trial. ( 28070786 )
2017
14
Advances in developmental neuropsychiatry: autism spectrum disorder, Cornelia De Lange syndrome, self-injurious behavior, Down syndrome, fetal alcohol spectrum disorder, and borderline intellectual functioning. ( 28067728 )
2017
15
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. ( 28256214 )
2017
16
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome. ( 28374929 )
2017
17
Disruptive behaviour may hinder the acquisition of daily living skills for youth with autism spectrum disorder. ( 28087560 )
2017
18
Cognitive profiles of adults with high-functioning autism spectrum disorder and those with attention-deficit/hyperactivity disorder based on the WAIS-III. ( 28064024 )
2017
19
Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder. ( 28074353 )
2017
20
Elizabeth Usher Memorial Lecture: Rethinking the clinical pathway for autism spectrum disorder and challenging the status quo. ( 28084105 )
2017
21
Test of Gross Motor Development-3 (TGMD-3) with the Use of Visual Supports for Children with Autism Spectrum Disorder: Validity and Reliability. ( 28091840 )
2017
22
Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder. ( 28255759 )
2017
23
Beyond the hype and hope: Critical considerations for intranasal oxytocin research in autism spectrum disorder. ( 27651096 )
2016
24
Persistence of megalencephaly in a subgroup of young boys with autism spectrum disorder. ( 27273931 )
2016
25
Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder. ( 26806207 )
2016
26
The Social Feedback Hypothesis and Communicative Development in Autism Spectrum Disorder: A Response to Akhtar, Jaswal, Dinishak, and Stephan (2016). ( 27664191 )
2016
27
Narratives of children with high-functioning autism spectrum disorder: A meta-analysis. ( 27643571 )
2016
28
Finding novel distinctions between the sAPPI+-mediated anabolic biochemical pathways in Autism Spectrum Disorder and Fragile X Syndrome plasma and brain tissue. ( 27212113 )
2016
29
Reported Wandering Behavior among Children with Autism Spectrum Disorder and/or Intellectual Disability. ( 27157446 )
2016
30
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. ( 27238888 )
2016
31
Correlation between Nutrition and Symptoms: Nutritional Survey of Children with Autism Spectrum Disorder in Chongqing, China. ( 27187463 )
2016
32
Sleep Disorder, Gastrointestinal Problems and Behaviour Problems Seen in Autism Spectrum Disorder Children and Yoga as Therapy: A Descriptive Review. ( 28050484 )
2016
33
Testosterone and Androgen Receptor Sensitivity in Relation to Hyperactivity Symptoms in Boys with Autism Spectrum Disorders. ( 26910733 )
2016
34
Callous unemotional traits, autism spectrum disorder symptoms and empathy in boys with oppositional defiant disorder or conduct disorder. ( 27575651 )
2016
35
Overlapping Phenotypes in Autism Spectrum Disorder and Developmental Coordination Disorder: A Cross-Syndrome Comparison of Motor and Social Skills. ( 27126816 )
2016
36
Default mode network abnormalities in children with autism spectrum disorder detected by resting-state functional magnetic resonance imaging. ( 27644559 )
2016
37
Impaired downregulation of visual cortex during auditory processing is associated with autism symptomatology in children and adolescents with autism spectrum disorder. ( 27205875 )
2016
38
Spillover of Marital Interactions and Parenting Stress in Families of Children With Autism Spectrum Disorder. ( 27218268 )
2016
39
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. ( 27042285 )
2016
40
PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking. ( 26979507 )
2016
41
Clinical trial of modulatory effects of oxytocin treatment on higher-order social cognition in autism spectrum disorder: a randomized, placebo-controlled, double-blind and crossover trial. ( 27655235 )
2016
42
Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex: Case reports and review of literature. ( 28003905 )
2016
43
Impact of Pharmacogenetic Markers of CYP2D6 and DRD2 on Prolactin Response in Risperidone-Treated Thai Children and Adolescents With Autism Spectrum Disorders. ( 26872113 )
2016
44
Characterizing Objective Quality of Life and Normative Outcomes in Adults with Autism Spectrum Disorder: An Exploratory Latent Class Analysis. ( 27207091 )
2016
45
Elevated levels of tissue plasminogen activator and E-selectin in male children with autism spectrum disorder. ( 27194368 )
2016
46
Different brain responses during empathy in autism spectrum disorders versus conduct disorder and callous-unemotional traits. ( 26681358 )
2016
47
CHD8 intragenic deletion associated with autism spectrum disorder. ( 26921529 )
2016
48
Autism spectrum disorder in the scope of tactile processing. ( 28089657 )
2016
49
Predicting symptom severity in autism spectrum disorder based on cortical thickness measures in agglomerative data. ( 27664827 )
2016
50
Comprehension of ambiguity for children with Specific Language Impairment and Autism Spectrum Disorder. ( 27982253 )
2016

Variations for Autism Spectrum Disorder

ClinVar genetic disease variations for Autism Spectrum Disorder:

6 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1 EHMT1 NM_024757.4(EHMT1): c.3413G> A (p.Trp1138Ter) single nucleotide variant Pathogenic rs886037776 GRCh37 Chromosome 9, 140711929: 140711929
2 ACR; ARSA; MAPK8IP2; RABL2B; SHANK3 NC_000022.10: g.(?_51027581)_(51234443_?)del deletion Pathogenic GRCh37 Chromosome 22, 51027581: 51234443
3 subset of 35 genes:SHANK3 NC_000022.10: g.(?_50282986)_(51304566_?)del deletion Pathogenic GRCh37 Chromosome 22, 50282986: 51304566
4 subset of 36 genes:SHANK3 NC_000022.10: g.(?_49033233)_(51193680_?)del deletion Pathogenic GRCh37 Chromosome 22, 49033233: 51193680
5 NC_000015.8: g.26762141_30302218del3540078 deletion Pathogenic NCBI36 Chromosome 15, 26762141: 30302218
6 NC_000005.8: g.175492445_177359136del1866692 deletion Pathogenic NCBI36 Chromosome 5, 175492445: 177359136
7 NC_000015.8: g.28723577_30322604del1599028 deletion Pathogenic NCBI36 Chromosome 15, 28723577: 30322604
8 NC_000015.8: g.21200233_26762141dup5561909 duplication Pathogenic NCBI36 Chromosome 15, 21200233: 26762141
9 NC_000015.8: g.19359417_26208861dup6849445 duplication Pathogenic NCBI36 Chromosome 15, 19359417: 26208861
10 NC_000015.8: g.19359417_30302218del10942802 deletion Pathogenic NCBI36 Chromosome 15, 19359417: 30302218
11 NC_000001.9: g.144967972_146293282dup1325311 duplication Pathogenic NCBI36 Chromosome 1, 144967972: 146293282
12 NC_000001.9: g.144943150_146293282del1350133 deletion Pathogenic NCBI36 Chromosome 1, 144943150: 146293282
13 NC_000001.9: g.144970465_146293282dup1322818 duplication Pathogenic NCBI36 Chromosome 1, 144970465: 146293282
14 NC_000001.9: g.145119261_146293282dup1174022 duplication Pathogenic NCBI36 Chromosome 1, 145119261: 146293282
15 NC_000016.8: g.29554843_30085308del530466 deletion Pathogenic NCBI36 Chromosome 16, 29554843: 30085308
16 NC_000016.8: g.29554843_30085308dup530466 duplication Pathogenic NCBI36 Chromosome 16, 29554843: 30085308
17 NC_000017.9: g.14040467_15411904del1371438 deletion Pathogenic NCBI36 Chromosome 17, 14040467: 15411904
18 NC_000017.9: g.14040467_15411904dup1371438 duplication Pathogenic NCBI36 Chromosome 17, 14040467: 15411904
19 NC_000017.9: g.14039002_15411904dup1372903 duplication Pathogenic NCBI36 Chromosome 17, 14039002: 15411904
20 NC_000022.9: g.17257787_18686993dup1429207 duplication Pathogenic NCBI36 Chromosome 22, 17257787: 18686993
21 NC_000022.9: g.17257787_19792353dup2534567 duplication Pathogenic NCBI36 Chromosome 22, 17257787: 19792353
22 NC_000022.9: g.17266915_21751058dup4484144 duplication Pathogenic NCBI36 Chromosome 22, 17266915: 21751058
23 NC_000022.9: g.21995356_23326630dup1331275 duplication Pathogenic NCBI36 Chromosome 22, 21995356: 23326630
24 NC_000022.9: g.21309897_23340746dup2030850 duplication Pathogenic NCBI36 Chromosome 22, 21309897: 23340746
25 CHRNA7; FAN1; KLF13; MIR211; MTMR10; OTUD7A; TRPM1 NC_000015.9: g.30940504_32620088del1679585 deletion Pathogenic GRCh37 Chromosome 15, 30940504: 32620088
26 subset of 11 genes:UBE3A NC_000015.9: g.25334522_28369712dup3035191 duplication Pathogenic GRCh37 Chromosome 15, 25334522: 28369712
27 subset of 30 genes:MAGEL2; SNURF; UBE3A NC_000015.9: g.20306549_26208861dup5902313 duplication Pathogenic GRCh37 Chromosome 15, 20306549: 26208861
28 subset of 35 genes:MAGEL2; SNURF; UBE3A NC_000015.9: g.20044342_28924405dup8880064 duplication Pathogenic GRCh37 Chromosome 15, 20044342: 28924405
29 subset of 24 genes:MAGEL2; SNURF; UBE3A NC_000015.9: g.23624148_28790734dup5166587 duplication Pathogenic GRCh37 Chromosome 15, 23624148: 28790734
30 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; HYDIN2; NBPF12; PRKAB2 NC_000001.10: g.146089254_148004783dup1915530 duplication Pathogenic GRCh37 Chromosome 1, 146089254: 148004783
31 ACP6; BCL9; CHD1L; FMO5; GJA5; GJA8; GPR89B; PRKAB2 NC_000001.10: g.146499479_147830375dup1330897 duplication Pathogenic GRCh37 Chromosome 1, 146499479: 147830375
32 CDRT15; CDRT4; COX10; HS3ST3B1; PMP22; TEKT3; TVP23C; TVP23C-CDRT4 NC_000017.10: g.14101029_15482817del1381789 deletion Pathogenic GRCh37 Chromosome 17, 14101029: 15482817
33 subset of 15 genes:HNF1B NC_000017.10: g.34815551_36249800dup1434250 duplication Pathogenic GRCh37 Chromosome 17, 34815551: 36249800
34 subset of 39 genes:TBX1 NC_000022.10: g.18874965_21028946dup2153982 duplication Pathogenic GRCh37 Chromosome 22, 18874965: 21028946
35 subset of 27 genes:ELN NC_000007.13: g.72718278_74140708dup1422431 duplication Pathogenic GRCh37 Chromosome 7, 72718278: 74140708

Expression for Autism Spectrum Disorder

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

Pathways for Autism Spectrum Disorder

GO Terms for Autism Spectrum Disorder

Cellular components related to Autism Spectrum Disorder according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.87 FMR1 NLGN3 NLGN4X NRXN1 SHANK1 SHANK2
2 neuron projection GO:0043005 9.8 FMR1 SHANK1 SHANK2 SHANK3 SLC6A4
3 synapse GO:0045202 9.73 FMR1 NLGN3 NLGN4X NRXN1 SHANK1 SHANK2
4 dendritic spine GO:0043197 9.67 FMR1 SHANK1 SHANK2 SHANK3
5 presynapse GO:0098793 9.63 FMR1 NRXN3 SLC6A4
6 postsynapse GO:0098794 9.61 FMR1 MECP2 NLGN3
7 ionotropic glutamate receptor complex GO:0008328 9.48 SHANK1 SHANK2
8 postsynaptic membrane GO:0045211 9.35 FMR1 NLGN4X SHANK1 SHANK2 SHANK3
9 excitatory synapse GO:0060076 9.33 NLGN3 NLGN4X SHANK1
10 postsynaptic density GO:0014069 9.02 FMR1 NLGN4X SHANK1 SHANK2 SHANK3
11 integral component of plasma membrane GO:0005887 10.04 NLGN3 NLGN4X NRXN1 NRXN3 OXTR SCN2A

Biological processes related to Autism Spectrum Disorder according to GeneCards Suite gene sharing:

(show all 41)
id Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.94 CHD8 CNTNAP2 MECP2 SLC6A4
2 social behavior GO:0035176 9.9 CNTNAP2 MECP2 NLGN3 NLGN4X NRXN1 NRXN3
3 neuron differentiation GO:0030182 9.86 MECP2 MYT1L NLGN4X
4 learning GO:0007612 9.86 CNTNAP2 MECP2 NLGN3 NLGN4X NRXN1 NRXN3
5 memory GO:0007613 9.85 MECP2 OXTR SHANK2 SHANK3 SLC6A4
6 synapse assembly GO:0007416 9.85 MECP2 NLGN3 NRXN1 NRXN3 SHANK2 SHANK3
7 positive regulation of synapse assembly GO:0051965 9.83 MECP2 NLGN3 NRXN1 NRXN3 OXTR
8 long-term synaptic potentiation GO:0060291 9.81 MECP2 NLGN3 SHANK2 SHANK3
9 positive regulation of excitatory postsynaptic potential GO:2000463 9.78 NLGN3 NRXN1 SHANK1 SHANK3
10 neuromuscular process controlling balance GO:0050885 9.77 NRXN1 SHANK1 SHANK3
11 positive regulation of dendritic spine development GO:0060999 9.72 FMR1 SHANK1 SHANK3
12 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.72 NLGN3 NRXN1 OXTR SHANK2 SHANK3
13 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity GO:2000311 9.71 NLGN3 NRXN1 SHANK1
14 neuron cell-cell adhesion GO:0007158 9.71 NLGN3 NLGN4X NRXN1 NRXN3
15 presynaptic membrane assembly GO:0097105 9.7 NLGN3 NLGN4X NRXN1
16 histone methylation GO:0016571 9.68 EHMT1 MECP2
17 brain morphogenesis GO:0048854 9.68 SHANK3 SLC6A4
18 long term synaptic depression GO:0060292 9.67 SHANK2 SHANK3
19 exploration behavior GO:0035640 9.67 SHANK2 SHANK3
20 regulation of N-methyl-D-aspartate selective glutamate receptor activity GO:2000310 9.67 NLGN3 NRXN1
21 vocal learning GO:0042297 9.67 CNTNAP2 NRXN1 SHANK3
22 dendritic spine morphogenesis GO:0060997 9.66 SHANK1 SHANK3
23 regulation of dendritic spine morphogenesis GO:0061001 9.66 NLGN3 SHANK3
24 thalamus development GO:0021794 9.65 CNTNAP2 SLC6A4
25 protein localization to synapse GO:0035418 9.65 NRXN1 SHANK1
26 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.65 MECP2 NLGN3
27 positive regulation of synapse maturation GO:0090129 9.64 NRXN1 NRXN3
28 negative regulation of excitatory postsynaptic potential GO:0090394 9.63 NLGN3 NLGN4X
29 righting reflex GO:0060013 9.63 AUTS2 SHANK1
30 inositol metabolic process GO:0006020 9.62 MECP2 PPIP5K2
31 sperm ejaculation GO:0042713 9.62 OXTR SLC6A4
32 postsynaptic membrane assembly GO:0097104 9.61 NLGN3 NRXN1
33 regulation of long-term synaptic potentiation GO:1900271 9.61 NLGN3 SHANK3
34 NMDA glutamate receptor clustering GO:0097114 9.59 NRXN1 SHANK3
35 regulation of grooming behavior GO:2000821 9.58 NRXN1 SHANK3
36 negative regulation of actin filament bundle assembly GO:0032232 9.58 SHANK1 SHANK3
37 positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity GO:2000969 9.57 NLGN3 SHANK3
38 guanylate kinase-associated protein clustering GO:0097117 9.56 NRXN1 SHANK3
39 adult behavior GO:0030534 9.56 CNTNAP2 NLGN3 NLGN4X NRXN1 NRXN3 SHANK1
40 vocalization behavior GO:0071625 9.23 CNTNAP2 NLGN3 NLGN4X NRXN1 NRXN3 SHANK1
41 cell adhesion GO:0007155 10.08 CNTNAP2 NLGN3 NLGN4X NRXN1 NRXN3

Molecular functions related to Autism Spectrum Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor activity GO:0004872 9.71 NLGN3 NLGN4X NRXN1 NRXN3
2 SH3 domain binding GO:0017124 9.63 SHANK1 SHANK2 SHANK3
3 cell adhesion molecule binding GO:0050839 9.46 NLGN3 NLGN4X NRXN1 NRXN3
4 neurexin family protein binding GO:0042043 9.43 NLGN3 NLGN4X
5 ionotropic glutamate receptor binding GO:0035255 9.43 SHANK1 SHANK2 SHANK3
6 siRNA binding GO:0035197 9.37 FMR1 MECP2
7 neuroligin family protein binding GO:0097109 9.32 NRXN1 NRXN3
8 scaffold protein binding GO:0097110 9.26 NLGN3 NLGN4X SHANK1 SHANK3
9 GKAP/Homer scaffold activity GO:0030160 8.8 SHANK1 SHANK2 SHANK3

Sources for Autism Spectrum Disorder

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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