Autism Spectrum Disorder (ASD)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Autism Spectrum Disorder

MalaCards integrated aliases for Autism Spectrum Disorder:

Name: Autism Spectrum Disorder 11 19 42 52 28 5 41 2 43 14 16 33
Autism Spectrum Disorders 14 71
Asd 19 42
Pervasive Developmental Disorder, Not Otherwise Specified 33
Autistic Disorder of Childhood Onset 33
Pervasive Developmental Delay Nos 33
Pervasive Developmental Disorder 42
Pervasive Development Disorder 71
Autistic Continuum 42
Autistic Disorder 33
Autistic Behavior 71
Childhood Autism 33
Infantile Autism 33
Kanner Syndrome 33
Autistic 33


External Ids:

Disease Ontology 11 DOID:0060041
MeSH 43 D000067877
UMLS 71 C0524528 C0856975 C1510586

Summaries for Autism Spectrum Disorder

MedlinePlus Genetics: 42 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.From as early as 1 to 2 years of age, people with ASD have an impaired ability to interact with other people; they are often more comfortable dealing with objects. Affected individuals have difficulty understanding and using non-verbal social cues such as eye contact, facial expressions, gestures, and body language. Inability to recognize and use these cues makes it hard for affected individuals to understand the feelings of others or communicate their own feelings appropriately. Behavioral signs of ASD, such as reduced eye contact and social interaction, can sometimes be detected before age 2. However, the condition is usually diagnosed between ages 2 and 4, when more advanced communication and social skills, such as learning to play with others, typically begin to develop.Repetitive behaviors in ASD can include simple actions such as rocking, hand-flapping, or repetition of words or noises (echolalia). Affected individuals often dwell on or repeatedly express particular thoughts; this behavior is called perseveration. People with ASD tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as loud noises or bright lights.While social and communication difficulties and unusual behaviors define ASD, affected individuals can have a wide range of intellectual abilities and language skills. A majority of people with ASD have mild to moderate intellectual disability, while others have average to above-average intelligence. Some have particular cognitive abilities that greatly surpass their overall level of functioning, often in areas such as music, mathematics, or memory.Some people with ASD do not speak at all, while others use language fluently. However, fluent speakers with ASD often have problems associated with verbal communication. They might speak in a monotone voice, have unusual vocal mannerisms, or choose unusual topics of conversation.Several diagnoses that used to be classified as separate conditions are now grouped together under the diagnosis of ASD. For example, autistic disorder was a term that was used when affected individuals had limited or absent verbal communication, often in combination with intellectual disability. By contrast, Asperger syndrome was a diagnosis formerly applied to affected individuals of average or above-average intelligence who were not delayed in their language development. The broader diagnosis of ASD was established because many affected individuals fall outside of the strict definitions of the narrower diagnoses, and their intellectual and communication abilities may change over time. However, some individuals who were previously diagnosed with one of the subtypes now do not meet all the criteria of the new umbrella diagnosis.

MalaCards based summary: Autism Spectrum Disorder, also known as autism spectrum disorders, is related to autism and attention deficit-hyperactivity disorder, 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 SHANK2 (SH3 And Multiple Ankyrin Repeat Domains 2), and among its related pathways/superpathways are Thyroid hormones production and peripheral downstream signaling effects and Rett syndrome causing genes. The drugs Acetylcholine and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and prefrontal cortex, and related phenotypes are nervous system and behavior/neurological

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

NINDS: 52 Autism spectrum disorder (ASD, sometimes called autism) is a developmental disorder that affects how people socially interact, behave, learn, and communicate. People may exhibit repetitive behaviors or narrow, obsessive interests. Not everyone with ASD will have all behaviors and its impact can range from mild to disabling. Learning and thinking can range from extremely gifted to needing severe help. ASD is called a developmental disorder since symptoms generally appear in the first two years of life. Both children and adults can have ASD. Scientists aren’t certain what causes ASD, but it’s likely that both genetics and environment play a role. The term ASD now refers to several conditions that used to be diagnosed separately. A team of healthcare professionals with experience may be involved in diagnosing ASD. Children should be screened for developmental delays during periodic checkups and specifically for autism at 18- and 24-month well child visits.

CDC: 2 Autism spectrum disorder (ASD) is a developmental disability that can cause significant social, communication and behavioral challenges. There is often nothing about how people with ASD look that sets them apart from other people, but people with ASD may communicate, interact, behave, and learn in ways that are different from most other people. The learning, thinking, and problem-solving abilities of people with ASD can range from gifted to severely challenged. Some people with ASD need a lot of help in their daily lives; others need less.

Disease Ontology: 11 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.

Related Diseases for Autism Spectrum Disorder

Diseases in the Autism family:

Autism 8 Autism 3
Autism 6 Autism 7
Autism 11 Autism 12
Autism 13 Autism 9
Autism 10 Autism 15
Autism 16 Autism 17
Autism 19 Autism 20
Autism Spectrum Disorder Rare Disease with Autism

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

(show top 50) (show all 1670)
# Related Disease Score Top Affiliating Genes
1 autism 34.2 TSC2 SHANK3 SHANK2 RPL10 PTCHD1 NR3C2
2 attention deficit-hyperactivity disorder 33.2 TSC2 SHANK2 PTCHD1 MIR140 CHD8
3 kleefstra syndrome 32.8 MBD5 EHMT1 CHD8
4 pitt-hopkins syndrome 32.6 MEF2C MBD5 EHMT1 CHD8
5 sotos syndrome 32.5 RNF135 MBD5 EHMT1 CHD8
6 pervasive developmental disorder 32.2 TSC2 SHANK2 RPL10 PTCHD1 MIR598 MIR140
7 psychotic disorder 31.7 SHANK3 SHANK2 MIR598 MIR21 MIR132
8 disease of mental health 31.6 MIR21 MIR140 MIR132 MIR128-1
9 mood disorder 31.5 NR3C2 MIR598 MIR132 DISC2
10 syndromic intellectual disability 31.2 SHANK2 MBD5 EHMT1 CHD8
11 intellectual developmental disorder, autosomal dominant 1 30.9 MBD5 EHMT1
12 alzheimer disease, familial, 1 30.8 TSC2 MIR21 MIR140 MIR132 MIR128-1 MAP2K1
13 focal epilepsy 30.5 MIR21 MIR132 MIR128-1
14 central nervous system disease 30.5 MIR21 MIR140 MIR132 MIR128-1
15 chromosomal disease 30.4 SHANK2 MIR21 MIR140 MIR132
16 prion disease 30.3 MIR21 MIR132 MEF2C
17 nervous system disease 30.2 TSC2 MIR598 MIR21 MIR140 MIR132 MIR128-1
18 hypertrophic cardiomyopathy 30.0 NR3C2 MIR21 MIR140 MEF2C MAP2K1
19 helsmoortel-van der aa syndrome 11.8
20 arthrogryposis, impaired intellectual development, and seizures 11.7
21 intellectual developmental disorder, autosomal recessive 38 11.6
22 intellectual developmental disorder, autosomal dominant 26 11.6
23 patent foramen ovale 11.5
24 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.5
25 asperger syndrome 11.5
26 grin2b-related developmental delay, intellectual disability and autism spectrum disorder 11.5
27 intellectual developmental disorder with language impairment and with or without autistic features 11.4
28 chromosome 15q11.2 deletion syndrome 11.4
29 white-sutton syndrome 11.3
30 chromosome 1q21.1 duplication syndrome 11.3
31 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 11.3
32 shukla-vernon syndrome 11.3
33 chromosome 16p11.2 deletion syndrome 11.3
34 syngap1-related intellectual disability 11.3
35 fragile x syndrome 11.3
36 speech and communication disorders 11.3
37 atrial septal defect 1 11.3
38 rare pervasive developmental disorder 11.2
39 chromosome 1q21.1 deletion syndrome, 1.35-mb 11.2
40 schindler disease 11.2
41 anterior segment dysgenesis 11.2
42 autism x-linked 4 11.2
43 chromosome 17q12 duplication syndrome 11.2
44 intellectual developmental disorder, autosomal dominant 64 11.2
45 cerebellar atrophy, developmental delay, and seizures 11.2
46 atrial septal defect 7 with or without atrioventricular conduction defects 11.2
47 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.2
48 intellectual developmental disorder with autism and speech delay 11.2
49 developmental delay with variable intellectual impairment and behavioral abnormalities 11.2
50 16p11.2 duplication 11.2

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

Diseases related to Autism Spectrum Disorder

Symptoms & Phenotypes for Autism Spectrum Disorder


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

UMLS symptoms related to Autism Spectrum Disorder:

photophobia; personality changes; restlessness; pseudobulbar behavioral symptoms; sleep disturbances

MGI Mouse Phenotypes related to Autism Spectrum Disorder:

# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.73 ACTL6B CDK13 CHD8 EHMT1 MAP2K1 MBD5
2 behavior/neurological MP:0005386 9.44 ACTL6B CDK13 CHD8 EHMT1 MAP2K1 MBD5

Drugs & Therapeutics for Autism Spectrum Disorder

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

(show top 50) (show all 402)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
Donepezil Approved Phase 4 120014-06-4 3152
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
Norepinephrine Approved Phase 4 51-41-2 439260
Atomoxetine Approved Phase 4 82248-59-7, 83015-26-3 54841
Olanzapine Approved, Investigational Phase 4 132539-06-1 135398745 4585
Minocycline Approved, Investigational Phase 4 10118-90-8, 13614-98-7 54675783 5281021
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
Milnacipran Approved, Investigational Phase 4 92623-85-3, 96847-54-0 11622909 65833 6917779
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
Inositol Approved, Investigational, Withdrawn Phase 4 87-89-8
Choline Approved, Nutraceutical Phase 4 62-49-7 305
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
20 Vasodilator Agents Phase 4
21 Antimetabolites Phase 4
22 Hypolipidemic Agents Phase 4
23 Lipid Regulating Agents Phase 4
24 Immunoglobulins Phase 4
25 Antibodies Phase 4
26 Immunoglobulins, Intravenous Phase 4
27 gamma-Globulins Phase 4
28 Rho(D) Immune Globulin Phase 4
29 Neurotransmitter Agents Phase 4
30 Excitatory Amino Acid Antagonists Phase 4
31 Psychotropic Drugs Phase 4
32 Anticonvulsants Phase 4
33 Analgesics Phase 4
34 Anti-Bacterial Agents Phase 4
35 Anti-Infective Agents Phase 4
36 Dopamine Agents Phase 4
37 Insulin, Globin Zinc Phase 4
Insulin Phase 4
39 Omega 3 Fatty Acid Phase 4
40 Serotonin Receptor Agonists Phase 4
41 Antiparkinson Agents Phase 4
42 Adrenergic Agents Phase 4
43 Antihypertensive Agents Phase 4
44 Adrenergic alpha-Agonists Phase 4
45 Adrenergic Agonists Phase 4
46 Analgesics, Non-Narcotic Phase 4
47 Anti-Inflammatory Agents Phase 4
48 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
49 Antiemetics Phase 4
50 Antibiotics, Antitubercular Phase 4

Interventional clinical trials:

(show top 50) (show all 1327)
# Name Status NCT ID Phase Drugs
1 A Multinational, Multicenter, Open-label, Single-arm Study to Evaluate the Efficacy and Safety of Aripiprazole in Asian Pediatric Patients With Autism Spectrum Disorder and Behavior Problems Unknown status NCT02069977 Phase 4 Aripiprazole
2 A Phase IV, Single-site, 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 Intranasal Dexmedetomidine vs Oral Triclofos Sodium Sedation for Children With Autism Undergoing Electroencephalograms - A Randomized Controlled Trial. Unknown status NCT04270708 Phase 4 Dexmedetomidine;Triclofos 100 MG/ML
4 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
5 Open-Label Treatment Trial to Assess the Short-Term Tolerability, Safety, and Efficacy of Methylphenidate Hydrochloride Extended-Release Liquid Formulation in High-Functioning Autism Spectrum Disorder Adults With Attention-Deficit/Hyperactivity Disorder Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
6 Quillivant XR in Children With Attention Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD): A Pilot Study Completed NCT02255565 Phase 4 Very Low Dose Quillivant XR;Low Dose Quillivant XR;Moderate Dose Quillivant XR
7 A Randomized, Double-blind Comparison of Atomoxetine Hydrochloride and Placebo for Symptoms of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Autism Spectrum Disorder Completed NCT00380692 Phase 4 Atomoxetine;Placebo
8 Pilot Study of the Effect of Aripiprazole Treatment in Autism Spectrum Disorders on Functional Magnetic Resonance Imaging (fMRI) Activation Patterns and Symptoms Completed NCT01028820 Phase 4 Aripiprazole
9 Improving Driving in Young People With Autism Spectrum Disorders Completed NCT03538431 Phase 4 Buspirone
10 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
11 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
12 A Prospective Open-label Trial of Metformin for Weight Control of Pediatric Patients on Atypical Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
13 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
14 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
15 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
16 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Completed NCT02940574 Phase 4 Syntocinon (Oxytocin)
17 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
18 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
19 Risperidone in the Treatment of Children and Adolescents With Autistic Disorder: A Double-Blind, Placebo-Controlled Study of Efficacy and Safety, Followed by an Open-Label Extension Study of Safety Completed NCT00576732 Phase 4 Placebo;Risperidone high dose;Risperidone low dose
20 Safety and Efficacy of Aripiprazole in the Long-term Maintenance Treatment of Pediatric Patients With Irritability Associated With Autistic Disorder Completed NCT01227668 Phase 4 Aripiprazole;Placebo
21 Evaluation of Growth, Sexual Maturation, and Prolactin-Related Adverse Events in the Pediatric Population Exposed to Atypical Antipsychotic Drugs Completed NCT01050582 Phase 4 Risperidone;Other atypical antipsychotic drugs
22 Biomarkers in Autism of Aripiprazole and Risperidone Treatment Completed NCT01333072 Phase 4 Aripiprazole;Risperidone
23 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
24 Divalproex Sodium ER in Adult Autism Completed NCT00211796 Phase 4 Divalproex Sodium ER
25 An Open Label Pilot Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behavior Problems in Children and Adolescents With Autistic Spectrum Disorders Completed NCT00485849 Phase 4 Atomoxetine Hydrochloride
26 Biomarker-Driven Pharmacological Treatment for Autism Spectrum Disorder Recruiting NCT05063656 Phase 4 Gabapentin
27 A Multi-Center, Open Label, Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
28 An Open-Label Clinical Trial Conducted Via Telepsychiatry of Complementary and Alternative Treatments (Omega-3 Fatty Acids and Inositol vs. N-acetylcysteine) for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) Recruiting NCT03757585 Phase 4 Open-label Treatment with Omega-3 Fatty Acids + Inositol;Open-label Treatment with N-acetylcysteine
29 Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole Recruiting NCT04903353 Phase 4 Comparison of Risperidone and Aripiprazole
30 Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT Recruiting NCT05146245 Phase 4
31 Connecting the Dots: An RCT Integrating Standardized ASD Screening, High-Quality Treatment, and Long-Term Outcomes Enrolling by invitation NCT03333629 Phase 4
32 Controlled-Release Melatonin (Melatonin CR)for the Treatment of Impaired Sleep Maintenance (ISM) in 4-8 Year Old Children With Autism Spectrum Disorders (ASD). Terminated NCT01033565 Phase 4 Natrol
33 A Phase 3, Multicenter, Randomized, Double-blind, Placebo Controlled Trial of Brexpiprazole in Treatment of Children and Adolescents With Irritability Associated With Autism Spectrum Disorder Unknown status NCT04174365 Phase 3 Brexpiprazole;Placebo
34 A Phase 3, Multicenter, Open Label Trial to Evaluate the Long-term Safety and Tolerability of Brexpiprazole in Treatment of Children and Adolescents With Irritability Associated With Autism Spectrum Disorder Unknown status NCT04258839 Phase 3 Brexpiprazole
35 Group Psychoeducational Program for Mothers of Preschool Children With High Functional Pervasive Developmental Disorders: a Randomized Controlled Trial Unknown status NCT01243905 Phase 2, Phase 3
36 Valproate Response in Aggressive Autistic Adolescents Unknown status NCT00065884 Phase 3 Valproate
37 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
38 An Examination of Changes in Urinary Metabolites With Use of Folinic Acid in Children With Autism Spectrum Disorder (ASD) Completed NCT03771560 Phase 2, Phase 3 folinic acid
39 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Completed NCT01972074 Phase 3 Memantine
40 Testing a Novel Speech Intervention in Minimally Verbal Children With Autism Spectrum Disorder (ASD) Completed NCT03015272 Phase 2, Phase 3
41 Phase II/III Clinical Trial of NPC-15 - Verification of the Efficacy for Sleep Disorders of Children With Autism Spectrum Disorders - Completed NCT02757066 Phase 2, Phase 3 NPC-15 Granules Lower Dose;NPC-15 Granules Higher Dose;NPC-15 Placebo Granule
42 To Mirror or Not to Mirror Upon Perceived Eye Contact? The Effect of Oxytocin on Socially Adaptive Mirror System Functioning in Autism Completed NCT03640156 Phase 3 Oxytocin
43 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
44 Effects of Risperidone on Cognitive-Motor Performance and Motor Movements in Chronically Medicated Children Completed NCT00399698 Phase 3 Risperdal
45 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
46 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3
47 Randomized Control Trial of Using Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
48 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3
49 Use of Acupuncture In Autistic Spectrum Disorder Completed NCT00346736 Phase 3
50 Efficacy And Safety Of Risperidone In The Treatment Of Children With Autistic Disorder And Other Pervasive Developmental Disorders: A Canadian, Multicenter, Double-Blind, Placebo-Controlled Study Completed NCT00261508 Phase 3 risperidone

Search NIH Clinical Center for Autism Spectrum Disorder

Cochrane evidence based reviews: autism spectrum disorder

Genetic Tests for Autism Spectrum Disorder

Genetic tests related to Autism Spectrum Disorder:

# Genetic test Affiliating Genes
1 Autism Spectrum Disorder 28 PTCHD1 RPL10 SHANK2

Anatomical Context for Autism Spectrum Disorder

Organs/tissues related to Autism Spectrum Disorder:

MalaCards : Eye, Brain, Prefrontal Cortex, Bone Marrow, Cortex, Cerebellum, Amygdala

Publications for Autism Spectrum Disorder

Articles related to Autism Spectrum Disorder:

(show top 50) (show all 44841)
# Title Authors PMID Year
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. 62 5
32312822 2020
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. 62 5
30504930 2019
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 62 5
30763456 2019
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. 62 5
28263302 2017
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. 62 5
27651234 2016
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. 62 5
27569545 2016
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. 62 5
23044707 2013
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. 62 5
23495136 2013
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). 62 5
21984749 2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 62 5
21658581 2011
Kleefstra Syndrome 62 5
20945554 2010
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. 62 5
19289393 2009
Association between microdeletion and microduplication at 16p11.2 and autism. 62 5
18184952 2008
Validation of a screening tool for autism spectrum disorder in adults - a study protocol. 62 41
36458608 2022
Effect of Longitudinal Practice in Real and Virtual Environments on Motor Performance, Physical Activity and Enjoyment in People with Autism Spectrum Disorder: A Prospective Randomized Crossover Controlled Trial. 62 41
36429386 2022
Preliminary efficacy of cognitive-behavioral therapy on emotion regulation in adults with autism spectrum disorder: A pilot randomized waitlist-controlled study. 62 41
36417403 2022
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 5
31616000 2019
MAP1B mutations cause intellectual disability and extensive white matter deficit. 5
30150678 2018
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects. 5
29222009 2018
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 5
25741868 2015
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome. 5
21984751 2012
Fetal akinesia: review of the genetics of the neuromuscular causes. 5
21984750 2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 5
21844811 2011
A 15q13.3 microdeletion segregating with autism. 5
19050728 2009
Heterogeneous dysregulation of microRNAs across the autism spectrum. 62 46
18563458 2008
22q13 deletion syndrome. 5
11391650 2001
Recent advancements in noninvasive brain modulation for individuals with autism spectrum disorder. 62
36453393 2023
On the role of serotonin 5-HT1A receptor in autistic-like behavior: сross talk of 5-HT and BDNF systems. 62
36280010 2023
Impairments in operant probabilistic reversal learning in BTBR T+tf/J male and female mice. 62
36100009 2023
Does the stranger mouse strain matter to female BTBR mice? 62
36181946 2023
Transient hearing abnormalities precede social deficits in a mouse model of autism. 62
36206820 2023
Acoustic startle and prepulse inhibition deficits in adult monkeys with neonatal lesions of the hippocampus, amygdala and orbital frontal cortex. 62
36283567 2023
An insight into sex-specific neurotoxicity and molecular mechanisms of DEHP: A critical review. 62
36400143 2023
Sensory Over-responsivity: A Feature of Childhood Psychiatric Illness Associated With Altered Functional Connectivity of Sensory Networks. 62
36357217 2023
Differences in Meaning of Occupations Between Children With and Without Neurodevelopmental Disorders. 62
35549767 2023
Affective Neuroscience Personality Scale (ANPS) and clinical implications: A systematic review. 62
36174784 2023
Trends in hospital admissions during transition from paediatric to adult services for young people with learning disabilities or autism: Population-based cohort study. 62
36394000 2023
A systematic literature review on the association between exposures to toxic elements and an autism spectrum disorder. 62
36220469 2023
Neurological Consequences of Congenital Disorders of Glycosylation. 62
36255677 2023
Fragile X Syndrome Patient-Derived Neurons Developing in the Mouse Brain Show FMR1-Dependent Phenotypes. 62
36372569 2023
Prenatal stress and fluoxetine exposure in mice differentially affect repetitive behaviors and synaptic plasticity in adult male and female offspring. 62
36116737 2023
From Mouse to Man: N-Methyl-d-Aspartic Acid Receptor Activation as a Promising Pharmacotherapeutic Strategy for Autism Spectrum Disorders. 62
36402493 2023
Assessing the mechanisms of brain plasticity by transcranial magnetic stimulation. 62
36198876 2023
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. 62
36408368 2023
Strategies to Support Learning of Gross Motor Tasks in Children with Autism Spectrum Disorder: A Scoping Review. 62
35538730 2023
Autoantibody profiling of monoamine oxidase A knockout mice, an autism spectrum disorder model. 62
36243286 2023
Particulate matter exposure during pregnancy and infancy and risks of autism spectrum disorder in children: A systematic review and meta-analysis. 62
36150594 2023
Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder. 62
36340933 2023
Identifying autism spectrum disorder in resting-state fNIRS signals based on multiscale entropy and a two-branch deep learning network. 62
36349567 2023
Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report. 62
36458369 2022

Variations for Autism Spectrum Disorder

ClinVar genetic disease variations for Autism Spectrum Disorder:

5 (show top 50) (show all 355)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 3 genes DUP Association
236385 GRCh37: 16:77961259-78463424
2 WWOX DUP Association
236339 GRCh37:
3 WWOX DUP Association
236336 GRCh37:
4 POGZ NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr) SNV Association
560551 rs1452048149 GRCh37: 1:151377304-151377304
GRCh38: 1:151404828-151404828
5 POGZ NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro) SNV Association
560552 rs370498156 GRCh37: 1:151377379-151377379
GRCh38: 1:151404903-151404903
6 POGZ NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln) SNV Association
560553 rs756691187 GRCh37: 1:151377469-151377469
GRCh38: 1:151404993-151404993
7 POGZ NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro) SNV Association
560554 rs1484207450 GRCh37: 1:151377631-151377631
GRCh38: 1:151405155-151405155
8 POGZ NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg) SNV Association
560555 rs1557863430 GRCh37: 1:151377705-151377705
GRCh38: 1:151405229-151405229
9 POGZ NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val) SNV Association
560556 rs1557863440 GRCh37: 1:151377709-151377709
GRCh38: 1:151405233-151405233
10 POGZ NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys) SNV Association
560557 rs1557863546 GRCh37: 1:151377739-151377739
GRCh38: 1:151405263-151405263
11 POGZ NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg) SNV Association
560558 rs769581210 GRCh37: 1:151377852-151377852
GRCh38: 1:151405376-151405376
12 POGZ NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys) SNV Association
560559 rs756483529 GRCh37: 1:151377904-151377904
GRCh38: 1:151405428-151405428
13 POGZ NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser) SNV Association
560560 rs202098093 GRCh37: 1:151377952-151377952
GRCh38: 1:151405476-151405476
14 POGZ NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val) SNV Association
560561 rs1276388879 GRCh37: 1:151378123-151378123
GRCh38: 1:151405647-151405647
15 POGZ NM_015100.4(POGZ):c.3373A>G (p.Ile1125Val) SNV Association
560562 rs760211123 GRCh37: 1:151378138-151378138
GRCh38: 1:151405662-151405662
16 POGZ NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu) SNV Association
560563 rs778792467 GRCh37: 1:151378168-151378168
GRCh38: 1:151405692-151405692
17 POGZ NM_015100.4(POGZ):c.3116G>A (p.Arg1039His) SNV Association
560564 rs760059077 GRCh37: 1:151378395-151378395
GRCh38: 1:151405919-151405919
18 POGZ NM_015100.4(POGZ):c.2792C>T (p.Pro931Leu) SNV Association
560565 rs373783340 GRCh37: 1:151378719-151378719
GRCh38: 1:151406243-151406243
19 POGZ NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile) SNV Association
560566 rs1557867853 GRCh37: 1:151378806-151378806
GRCh38: 1:151406330-151406330
20 POGZ NM_015100.4(POGZ):c.2608G>A (p.Val870Met) SNV Association
560567 rs772572695 GRCh37: 1:151378903-151378903
GRCh38: 1:151406427-151406427
21 POGZ NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln) SNV Association
560568 rs753214391 GRCh37: 1:151378920-151378920
GRCh38: 1:151406444-151406444
22 POGZ NM_015100.4(POGZ):c.2557A>G (p.Ile853Val) SNV Association
560569 rs749270162 GRCh37: 1:151379096-151379096
GRCh38: 1:151406620-151406620
23 POGZ NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp) SNV Association
560570 rs548226228 GRCh37: 1:151379390-151379390
GRCh38: 1:151406914-151406914
24 POGZ NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn) SNV Association
560571 rs1557870645 GRCh37: 1:151379747-151379747
GRCh38: 1:151407271-151407271
25 POGZ NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu) SNV Association
560572 rs1418634444 GRCh37: 1:151381253-151381253
GRCh38: 1:151408777-151408777
26 POGZ NM_015100.4(POGZ):c.1948A>C (p.Asn650His) SNV Association
560573 rs1557874046 GRCh37: 1:151381283-151381283
GRCh38: 1:151408807-151408807
27 POGZ NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser) SNV Association
560574 rs749548928 GRCh37: 1:151381291-151381291
GRCh38: 1:151408815-151408815
28 POGZ NM_015100.4(POGZ):c.1549G>A (p.Val517Ile) SNV Association
560575 rs754532606 GRCh37: 1:151396002-151396002
GRCh38: 1:151423526-151423526
29 POGZ NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly) SNV Association
560576 rs1557901347 GRCh37: 1:151396503-151396503
GRCh38: 1:151424027-151424027
30 POGZ NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln) SNV Association
560577 rs763820362 GRCh37: 1:151396521-151396521
GRCh38: 1:151424045-151424045
31 POGZ NM_015100.4(POGZ):c.1375G>A (p.Asp459Asn) SNV Association
560578 rs888864913 GRCh37: 1:151396573-151396573
GRCh38: 1:151424097-151424097
32 POGZ NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala) SNV Association
560579 rs1557902023 GRCh37: 1:151396630-151396630
GRCh38: 1:151424154-151424154
33 POGZ NM_015100.4(POGZ):c.1072A>G (p.Met358Val) SNV Association
560580 rs574158925 GRCh37: 1:151400305-151400305
GRCh38: 1:151427829-151427829
34 POGZ NM_015100.4(POGZ):c.970C>G (p.Leu324Val) SNV Association
560581 rs1557909572 GRCh37: 1:151400407-151400407
GRCh38: 1:151427931-151427931
35 POGZ NM_015100.4(POGZ):c.942C>G (p.Ser314Arg) SNV Association
560582 rs574335012 GRCh37: 1:151400435-151400435
GRCh38: 1:151427959-151427959
36 POGZ NM_015100.4(POGZ):c.902T>C (p.Phe301Ser) SNV Association
560583 rs1557909821 GRCh37: 1:151400475-151400475
GRCh38: 1:151427999-151427999
37 POGZ NM_015100.4(POGZ):c.860C>T (p.Ala287Val) SNV Association
560584 rs1372713010 GRCh37: 1:151400517-151400517
GRCh38: 1:151428041-151428041
38 POGZ NM_015100.4(POGZ):c.830A>G (p.Gln277Arg) SNV Association
560585 rs561369202 GRCh37: 1:151400628-151400628
GRCh38: 1:151428152-151428152
39 POGZ NM_015100.4(POGZ):c.794C>G (p.Thr265Ser) SNV Association
560586 rs1476293577 GRCh37: 1:151400664-151400664
GRCh38: 1:151428188-151428188
40 POGZ NM_015100.4(POGZ):c.749A>G (p.Lys250Arg) SNV Association
560588 rs1557910728 GRCh37: 1:151400709-151400709
GRCh38: 1:151428233-151428233
41 POGZ NM_015100.4(POGZ):c.625A>T (p.Met209Leu) SNV Association
560589 rs1557911386 GRCh37: 1:151400833-151400833
GRCh38: 1:151428357-151428357
42 POGZ NM_015100.4(POGZ):c.499A>G (p.Met167Val) SNV Association
560590 rs375045125 GRCh37: 1:151402148-151402148
GRCh38: 1:151429672-151429672
43 POGZ NM_015100.4(POGZ):c.319C>G (p.Leu107Val) SNV Association
560591 rs998675361 GRCh37: 1:151403282-151403282
GRCh38: 1:151430806-151430806
44 POGZ NM_015100.4(POGZ):c.303G>T (p.Gln101His) SNV Association
560592 rs1557916296 GRCh37: 1:151403298-151403298
GRCh38: 1:151430822-151430822
45 POGZ NM_015100.4(POGZ):c.272C>A (p.Ala91Asp) SNV Association
560593 rs1557935477 GRCh37: 1:151413415-151413415
GRCh38: 1:151440939-151440939
46 POGZ NM_015100.4(POGZ):c.211G>A (p.Val71Ile) SNV Association
560594 rs866632178 GRCh37: 1:151413476-151413476
GRCh38: 1:151441000-151441000
47 WWOX DEL Association
236387 GRCh37: 16:78939658-79076810
GRCh38: 16:78905761-79042913
48 WWOX DEL Association
236338 GRCh37:
49 overlap with 4 genes DUP Association
236384 GRCh37: 16:77626860-78140002
50 overlap with 3 genes DUP Association
236386 GRCh37: 16:77967322-78604831

Expression for Autism Spectrum Disorder

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

Pathways for Autism Spectrum Disorder

Pathways related to Autism Spectrum Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.05 TSC2 MAP2K1 ACTL6B

GO Terms for Autism Spectrum Disorder

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to lipopolysaccharide GO:0071222 9.77 MIR21 MIR140 MIR128-1 MEF2C
2 negative regulation of gene expression GO:0010629 9.73 MIR21 MIR140 MIR132 MIR128-1 MEF2C
3 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.5 MIR21 MIR132 MIR128-1
4 maintenance of postsynaptic density structure GO:0099562 9.33 SHANK3 SHANK2
5 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.26 MIR21 MIR140 MEF2C
6 social behavior GO:0035176 9.23 SHANK3 SHANK2 PTCHD1 CHD8

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

# Name GO ID Score Top Affiliating Genes
1 mRNA base-pairing translational repressor activity GO:1903231 9.46 MIR21 MIR140 MIR132 MIR128-1
2 structural constituent of postsynaptic density GO:0098919 9.13 SHANK3 SHANK2
3 synaptic receptor adaptor activity GO:0030160 8.8 SHANK3 SHANK2

Sources for Autism Spectrum Disorder

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....