MCID: ATS007
MIFTS: 65

Autism Spectrum Disorder

Categories: Rare diseases, Genetic diseases, Mental diseases

Aliases & Classifications for Autism Spectrum Disorder

MalaCards integrated aliases for Autism Spectrum Disorder:

Name: Autism Spectrum Disorder 12 50 25 51 41 14
Autism Spectrum Disorders 24 29 69
Asd 50 25
Pervasive Developmental Disorder 25
Pervasive Development Disorder 69
Autistic Continuum 25
Autistic Behavior 69
Pdds 24

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 atypical autism and adnp-related intellectual disability and autism spectrum disorder, and has symptoms including fatigue, sleep disturbances and photophobia. 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, testes and eye, and related phenotypes are behavior/neurological and nervous system

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). Autistic children have difficulties with social interaction, display problems with verbal and nonverbal communication, and exhibit repetitive behaviors or narrow, obsessive interests. These behaviors can range in impact from mild to disabling. Autism varies widely in its severity and symptoms and may go unrecognized, especially in mildly affected children or when more debilitating handicaps mask it. Scientists aren’t certain what causes autism, but it’s likely that both genetics and environment play a role.

Genetics Home Reference : 25 Autism spectrum disorder (ASD) is a condition that appears very early in childhood development, varies in severity, and is characterized by impaired social skills, communication problems, and repetitive behaviors. These difficulties can interfere with affected individuals' ability to function in social, academic, and employment settings. People with ASD also have an increased risk of psychiatric problems such as anxiety, depression, obsessive-compulsive disorder, and eating disorders.

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 : 72 Autism spectrum, also known as autism spectrum disorder (ASD), describes a range of conditions... 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 166)
id Related Disease Score Top Affiliating Genes
1 atypical autism 32.4 CHD8 CNTNAP2 MECP2 NLGN3 NLGN4X RPL10
2 adnp-related intellectual disability and autism spectrum disorder 12.2
3 autism spectrum disorder susceptibility, chd8-related 12.0
4 autism spectrum disorder susceptibility, kmt5b-related 12.0
5 intellectual disability and/or autism spectrum disorder, ash1l-related 12.0
6 patent foramen ovale 11.8
7 adnp syndrome 11.7
8 helsmoortel-van der aa syndrome 11.5
9 arthrogryposis, mental retardation, and seizures 11.5
10 asperger syndrome 11.5
11 fragile x syndrome 11.2
12 specific language impairment 11.1
13 rett syndrome 11.1
14 pervasive developmental disorder 11.1
15 chromosome 15q13.3 microdeletion syndrome 11.1
16 16p11.2 duplication 11.1
17 mental retardation, autosomal dominant 26 11.0
18 mental retardation, autosomal recessive 38 11.0
19 epilepsy, familial focal, with variable foci 1 10.9
20 timothy syndrome 10.9
21 autism x-linked 4 10.9
22 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 10.9
23 chromosome 15q11.2 deletion syndrome 10.9
24 specific language impairment 5 10.9
25 schaaf-yang syndrome 10.9
26 childhood disintegrative disease 10.9
27 syngap1-related intellectual disability 10.9
28 iris hypoplasia 10.8 CNTNAP2 MECP2 SETD2 SHANK3
29 familial partial lipodystrophy 10.8 NLGN3 NLGN4X SHANK3
30 brachycephaly, trichomegaly, and developmental delay 10.8
31 autism susceptibility 17 10.8
32 47,xyy syndrome 10.8
33 hivep2-related intellectual disability 10.8
34 chromosome 1q21.1 deletion syndrome 10.8
35 speech and communication disorders 10.8
36 syngap1-related non-syndromic intellectual disability 10.8
37 athabaskan brainstem dysgenesis syndrome 10.8
38 autism susceptibility, x-linked 2 10.8
39 autistic disorder 10.8
40 cask-related disorders 10.8
41 autism 18 10.8
42 autism susceptibility, x-linked 1 10.8
43 16p11.2 deletion syndrome 10.8
44 autism 9 10.8
45 17q12 deletion syndrome 10.8
46 autism susceptibility 15 10.8
47 autism susceptibility, x-linked 3 10.8
48 pervasive developmental disorder not otherwise specified 10.8
49 autism 10 10.8
50 autism x-linked 5 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

UMLS symptoms related to Autism Spectrum Disorder:


fatigue, sleep disturbances, photophobia, personality changes, restlessness, pseudobulbar behavioral symptoms

MGI Mouse Phenotypes related to Autism Spectrum Disorder:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 SHANK1 SHANK2 SHANK3 SNRPN CNTNAP2 EHMT1
2 nervous system MP:0003631 9.36 ADNP CNTNAP2 EHMT1 HOXA1 MECP2 NLGN3

Drugs & Therapeutics for Autism Spectrum Disorder

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

(show top 50) (show all 283)
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
Methylphenidate Approved, Investigational Phase 4,Phase 2,Phase 3 113-45-1 4158
4
Oxytocin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-56-6 439302 53477758
5
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 19982-08-2 4054
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,Phase 1,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
23 gamma-Globulins Phase 4
24 Immunoglobulins Phase 4
25 Immunoglobulins, Intravenous Phase 4
26 Rho(D) Immune Globulin Phase 4
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 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
37 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
38 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Antiviral Agents Phase 4,Phase 2
40 Respiratory System Agents Phase 4,Phase 2,Phase 3
41 Oxytocics Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
42 Atomoxetine Hydrochloride Phase 4,Phase 3
43 Adrenergic Agonists Phase 4,Phase 2
44 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2
45 Adrenergic alpha-Agonists Phase 4,Phase 2
46 Antihypertensive Agents Phase 4,Phase 2,Phase 1,Early Phase 1
47 Antidepressive Agents Phase 4,Phase 3,Phase 2,Phase 1
48
Serotonin Phase 4,Phase 3,Phase 2,Phase 1 50-67-9 5202
49 Serotonin Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Serotonin Uptake Inhibitors Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 607)

id Name Status NCT ID Phase Drugs
1 Study to Evaluate the Efficacy and Safety of Aripiprazole Unknown status NCT02069977 Phase 4 Aripiprazole
2 An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
3 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
4 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4 Aripiprazole
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 Atomoxetine;Placebo
7 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
8 Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study Completed NCT02255565 Phase 4 Very Low Dose Quillivant XR;Low Dose Quillivant XR;Moderate Dose Quillivant XR
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 Milnacipran;Placebo
11 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
12 A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD Completed NCT00485849 Phase 4 Atomoxetine Hydrochloride
13 An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
14 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
15 Preemie Tots: A Pilot Study to Understand the Effects of Prematurity in Toddlerhood Completed NCT01683565 Phase 4 LCPUFA oil supplement
16 Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD Recruiting NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
17 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders Recruiting NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
18 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Active, not recruiting NCT01339858 Phase 4 N-Acetyl Cysteine
19 Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders Enrolling by invitation NCT02940574 Phase 4 Syntocinon (Oxytocin)
20 Melatonin CR for the Treatment of Impaired Sleep Maintenance in 4-8 Year Old Children With Autism Spectrum Disorders Terminated NCT01033565 Phase 4 Natrol
21 Group Psychoeducational Program for Mothers of Children With High Functional Pervasive Developmental Disorders Unknown status NCT01243905 Phase 2, Phase 3
22 Improving Social Cognition for Adults With ASD by the Serious Game JeStiMulE Versus Controls Unknown status NCT02568631 Phase 2, Phase 3
23 Pilot Study of Riluzole for Drug-Refractory Irritability in Autism Spectrum Disorders Completed NCT02081027 Phase 2, Phase 3 Riluzole;placebo
24 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
25 Understanding Sleep Problems in Children With Autism Spectrum Disorder Completed NCT00691080 Phase 2, Phase 3
26 D-Cycloserine and Social Skills Training in Autism Spectrum Disorders Completed NCT01086475 Phase 3 D-cycloserine;Placebo
27 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
28 Study of Aripiprazole in the Treatment of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
29 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
30 Supporting the Well Being of Families of Young Children With Autism Spectrum Disorders Completed NCT01021384 Phase 3
31 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00346736 Phase 3
32 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
33 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 risperidone
34 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3
35 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3
36 A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms Completed NCT00541346 Phase 3 Methylphenidate Transdermal System
37 Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism Completed NCT00498173 Phase 3 Atomoxetine;Placebo
38 Pharmacogenomics in Autism Treatment Completed NCT00584701 Phase 2, Phase 3 Risperidone
39 Methylphenidate for Attention Deficit Hyperactivity Disorder and Autism in Children Completed NCT00178503 Phase 2, Phase 3 Methylphenidate-extended release;Methylphenidate-immediate release
40 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
41 Open Label Clinical Trial of Vitamin D in Children With Autism Completed NCT01535508 Phase 2, Phase 3 Liquid Vitamin D
42 Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12
43 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3 Galantamine
44 Study of Paliperidone ER in Adolescents and Young Adults With Autism Completed NCT00549562 Phase 3 Paliperidone ER
45 Study to Determine Whether There Are Any Cognitive or Motor Effects From Taking the Medicine Risperidone. Completed NCT00399698 Phase 3 Risperdal
46 Secretin for the Treatment of Autism Completed NCT00065962 Phase 3 secretin, synthetic porcine;secretin, biologically derived porcine
47 Lurasidone Pediatric Autism Study Completed NCT01911442 Phase 3 Lurasidone 20 mg daily;Lurasidone;Placebo
48 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Recruiting NCT01972074 Phase 3 Memantine;Placebo
49 A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder Recruiting NCT02985749 Phase 3 Intranasal Oxytocin
50 Psychotherapy for Anxiety in Children With Autism Spectrum Disorder Recruiting NCT02028247 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, Testes, Eye, Bone, Cortex, Liver, Bone Marrow

Publications for Autism Spectrum Disorder

Articles related to Autism Spectrum Disorder:

(show top 50) (show all 1137)
id Title Authors Year
1
Social and Non-social Hazard Response in Drivers with Autism Spectrum Disorder. ( 28070791 )
2017
2
The association between theory of mind, executive function, and the symptoms of autism spectrum disorder. ( 28945319 )
2017
3
Improving Early Identification and Intervention for Children at Risk for Autism Spectrum Disorder. ( 28082407 )
2017
4
Sign Language Echolalia in Deaf Children With Autism Spectrum Disorder. ( 28586822 )
2017
5
Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. ( 28814540 )
2017
6
Bone microarchitecture in adolescent boys with autism spectrum disorder. ( 28088646 )
2017
7
Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures. ( 28256214 )
2017
8
I8-3 Fatty Acid Supplementation Does Not Affect Autism Spectrum Disorder in Children: A Systematic Review and Meta-Analysis. ( 28077731 )
2017
9
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. ( 28251352 )
2017
10
Adolescent adaptive behavior profiles in Williams-Beuren syndrome, Down syndrome, and autism spectrum disorder. ( 28747993 )
2017
11
Serum levels of Glial fibrillary acidic protein in Chinese children with autism spectrum disorders. ( 28088366 )
2017
12
Identification of likely associations between cerebral folate deficiency and complex genetic- and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach. ( 28339176 )
2017
13
Parental stress, family quality of life, and family-teacher partnerships: Families of children with autism spectrum disorder. ( 28942105 )
2017
14
Therapy access among children with autism spectrum disorder, cerebral palsy, and attention-deficit-hyperactivity disorder: a population-based study. ( 28940224 )
2017
15
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
16
Cognitive profiles of adults with high-functioning autism spectrum disorder and those with attention-deficit/hyperactivity disorder based on the WAIS-III. ( 28064024 )
2017
17
Comparing behavioral treatment of feeding difficulties and tube dependence in children with cerebral palsy and autism spectrum disorder. ( 28946574 )
2017
18
Integration and Segregation of Default Mode Network Resting-state Functional Connectivity in Transition-age Males with High-functioning Autism Spectrum Disorder: A Proof of Concept Study. ( 28942672 )
2017
19
Autism Spectrum Disorder and School Bullying: Who is the Victim? Who is the Perpetrator? ( 28936640 )
2017
20
Modified-Release Methylphenidate-Related Trichotillomania in a Boy with Autism Spectrum Disorder. ( 28394174 )
2017
21
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
22
Prevalence of Externalizing Disorders and Autism Spectrum Disorder among Children with Fetal Alcohol Spectrum Disorder: Systematic Review and Meta-analysis. ( 28521112 )
2017
23
Longitudinal Study of Sensory Features in Children with Autism Spectrum Disorder. ( 28932599 )
2017
24
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder. ( 28834584 )
2017
25
A Randomized, Placebo-Controlled Trial of Metformin for the Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorder: Open-Label Extension. ( 28942807 )
2017
26
Training Parents of Youth with Autism Spectrum Disorder to Advocate for Adult Disability Services: Results from a Pilot Randomized Controlled Trial. ( 28070786 )
2017
27
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. ( 28894950 )
2017
28
Self-injurious behaviour in people with intellectual disability and autism spectrum disorder. ( 28030375 )
2017
29
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome. ( 28374929 )
2017
30
The Therapeutic Relationship as Predictor of Change in Music Therapy with Young Children with Autism Spectrum Disorder. ( 28936692 )
2017
31
Autism Spectrum Disorder Among US Children (2002-2010): Socioeconomic, Racial, and Ethnic Disparities. ( 28933930 )
2017
32
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. ( 28742278 )
2017
33
Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome. ( 28592997 )
2017
34
Research Letter: Folic acid supplementation and intake of folate in pregnancy in relation to offspring risk of autism spectrum disorder. ( 28946926 )
2017
35
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. ( 28407444 )
2017
36
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? ( 28933790 )
2017
37
Combined Prenatal Pesticide Exposure and Folic Acid Intake in Relation to Autism Spectrum Disorder. ( 28934093 )
2017
38
Statistical word learning in children with autism spectrum disorder and specific language impairment. ( 28464253 )
2017
39
Visuo-spatial construction trajectories in Fragile X Syndrome (FXS) and Autism Spectrum Disorders (ASD): Evidence of cognitive heterogeneity within neurodevelopmental conditions. ( 28923376 )
2017
40
The role of nonverbal working memory in morphosyntactic processing by children with specific language impairment and autism spectrum disorders. ( 28690687 )
2017
41
Dietary adequacy of Egyptian children with autism spectrum disorder compared to healthy developing children. ( 28074329 )
2017
42
Educator of the Court: The Role of the Expert Witness in Cases Involving Autism Spectrum Disorder. ( 28943746 )
2017
43
Validation of the Repetitive Behavior Scale-Revised in Spanish-Speakers Participants with Autism Spectrum Disorder. ( 28932960 )
2017
44
Disruptive behaviour may hinder the acquisition of daily living skills for youth with autism spectrum disorder. ( 28087560 )
2017
45
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder. ( 28935972 )
2017
46
Health Care Transition Planning Among Adolescents with Autism Spectrum Disorder. ( 28078534 )
2017
47
Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder. ( 28074353 )
2017
48
Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder. ( 28255759 )
2017
49
Predictors of Self-Injurious Behavior and Self-Restraint in Autism Spectrum Disorder: Towards a Hypothesis of Impaired Behavioral Control. ( 28070787 )
2017
50
Procedural learning in Parkinson's disease, specific language impairment, dyslexia, schizophrenia, developmental coordination disorder, and autism spectrum disorders: A second-order meta-analysis. ( 28710941 )
2017

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 GRCh38 Chromosome 9, 137817477: 137817477
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:

id Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.71 ADNP CNTNAP2 NLGN4X SHANK1
2 cell junction GO:0030054 9.65 NLGN3 NLGN4X SHANK1 SHANK2 SHANK3
3 dendritic spine GO:0043197 9.54 SHANK1 SHANK2 SHANK3
4 postsynaptic membrane GO:0045211 9.46 NLGN4X SHANK1 SHANK2 SHANK3
5 ionotropic glutamate receptor complex GO:0008328 9.32 SHANK1 SHANK2
6 postsynaptic density GO:0014069 9.26 NLGN4X SHANK1 SHANK2 SHANK3
7 excitatory synapse GO:0060076 8.8 NLGN3 NLGN4X SHANK1

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 neuron differentiation GO:0030182 9.82 MECP2 MYT1L NLGN4X
2 learning GO:0007612 9.8 CNTNAP2 MECP2 NLGN3 NLGN4X NRXN3 SHANK2
3 brain development GO:0007420 9.77 CHD8 CNTNAP2 MECP2
4 memory GO:0007613 9.74 MECP2 SHANK2 SHANK3
5 synapse assembly GO:0007416 9.72 MECP2 NLGN3 NRXN3 SHANK2 SHANK3
6 positive regulation of synapse assembly GO:0051965 9.71 ADNP MECP2 NLGN3 NRXN3
7 adult behavior GO:0030534 9.7 CNTNAP2 NLGN3 NLGN4X NRXN3 SHANK1 SHANK2
8 long-term synaptic potentiation GO:0060291 9.67 MECP2 NLGN3 SHANK2 SHANK3
9 positive regulation of dendritic spine development GO:0060999 9.65 SHANK1 SHANK3
10 positive regulation of excitatory postsynaptic potential GO:2000463 9.65 NLGN3 SHANK1 SHANK3
11 neuromuscular process GO:0050905 9.64 HOXA1 MECP2
12 histone methylation GO:0016571 9.64 EHMT1 MECP2
13 dendritic spine morphogenesis GO:0060997 9.63 SHANK1 SHANK3
14 long term synaptic depression GO:0060292 9.63 SHANK2 SHANK3
15 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.63 NLGN3 SHANK2 SHANK3
16 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity GO:2000311 9.62 NLGN3 SHANK1
17 exploration behavior GO:0035640 9.62 SHANK2 SHANK3
18 regulation of dendritic spine morphogenesis GO:0061001 9.61 NLGN3 SHANK3
19 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.61 MECP2 NLGN3
20 neuron cell-cell adhesion GO:0007158 9.61 NLGN3 NLGN4X NRXN3
21 negative regulation of excitatory postsynaptic potential GO:0090394 9.59 NLGN3 NLGN4X
22 presynaptic membrane assembly GO:0097105 9.58 NLGN3 NLGN4X
23 social behavior GO:0035176 9.56 CNTNAP2 MECP2 NLGN3 NLGN4X NRXN3 SHANK1
24 regulation of long-term synaptic potentiation GO:1900271 9.55 NLGN3 SHANK3
25 vocal learning GO:0042297 9.54 CNTNAP2 SHANK3
26 inositol metabolic process GO:0006020 9.52 MECP2 PPIP5K2
27 positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity GO:2000969 9.51 NLGN3 SHANK3
28 negative regulation of actin filament bundle assembly GO:0032232 9.49 SHANK1 SHANK3
29 peptidyl-lysine monomethylation GO:0018026 9.27 EHMT1
30 postsynaptic membrane assembly GO:0097104 9.26 NLGN3
31 vocalization behavior GO:0071625 9.17 CNTNAP2 NLGN3 NLGN4X NRXN3 SHANK1 SHANK2

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

id Name GO ID Score Top Affiliating Genes
1 SH3 domain binding GO:0017124 9.58 SHANK1 SHANK2 SHANK3
2 cell adhesion molecule binding GO:0050839 9.43 NLGN3 NLGN4X NRXN3
3 ionotropic glutamate receptor binding GO:0035255 9.33 SHANK1 SHANK2 SHANK3
4 neurexin family protein binding GO:0042043 9.32 NLGN3 NLGN4X
5 scaffold protein binding GO:0097110 9.26 NLGN3 NLGN4X SHANK1 SHANK3
6 protein-lysine N-methyltransferase activity GO:0016279 9.07 EHMT1
7 GKAP/Homer scaffold activity GO:0030160 8.8 SHANK1 SHANK2 SHANK3

Sources for Autism Spectrum Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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