Autism Spectrum Disorder (ASD)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autism Spectrum Disorder

MalaCards integrated aliases for Autism Spectrum Disorder:

Name: Autism Spectrum Disorder 12 53 25 54 29 6 43 44 15 17
Autism Spectrum Disorders 15 72
Asd 53 25
Pervasive Developmental Disorder 25
Pervasive Development Disorder 72
Autistic Continuum 25
Autistic Behavior 72


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Disease Ontology 12 DOID:0060041
MeSH 44 D000067877
UMLS 72 C0524528 C0856975 C1510586

Summaries for Autism Spectrum Disorder

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. 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 pervasive developmental 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 MicroRNAs in cancer and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. The drugs Valproic acid and Lithium carbonate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye.

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.

NIH Rare Diseases : 53 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.

MedlinePlus : 43 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 : 54 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.   Autism spectrum disorder is diagnosed based on symptoms, signs, and other testing according to the Diagnostic and Statistical Manual V, a guide created by the American Psychiatric Association to diagnose mental disorders. Children should be screened for developmental delays during periodic checkups and specifically for autism at 18- and 24-month well child visits.

Wikipedia : 75 Autism spectrum, also known as autism spectrum disorder (ASD), is a range of mental disorders of the... more...

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 18 Autism 19
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 899)
# Related Disease Score Top Affiliating Genes
1 autism 34.9 TSC2 SHANK3 SHANK2 RPL10 PTCHD1 EHMT1
2 pervasive developmental disorder 34.7 TSC2 SHANK3 SHANK2 RPL10 PTCHD1
3 kleefstra syndrome 31.0 MBD5 EHMT1
4 adnp-related intellectual disability and autism spectrum disorder 12.6
5 patent foramen ovale 12.2
6 adnp syndrome 12.1
7 arthrogryposis, mental retardation, and seizures 12.1
8 helsmoortel-van der aa syndrome 12.1
9 asperger syndrome 11.9
10 atrial septal defect 1 11.9
11 anterior segment dysgenesis 11.8
12 chromosome 15q13.3 deletion syndrome 11.7
13 mental retardation, autosomal recessive 38 11.7
14 attention deficit-hyperactivity disorder 11.7
15 fragile x syndrome 11.7
16 atrial septal defect ostium primum 11.7
17 atrial septal defect 7 with or without atrioventricular conduction defects 11.7
18 childhood disintegrative disease 11.6
19 autism x-linked 4 11.6
20 timothy syndrome 11.6
21 intellectual developmental disorder with autism and speech delay 11.6
22 white-sutton syndrome 11.6
23 16p11.2 duplication 11.6
24 developmental delay with variable intellectual impairment and behavioral abnormalities 11.6
25 syngap1-related intellectual disability 11.6
26 atrial septal defect coronary sinus 11.6
27 down syndrome 11.6
28 rett syndrome 11.5
29 specific language impairment 11.5
30 atypical autism 11.5
31 atrial heart septal defect 11.5
32 tuberous sclerosis 1 11.5
33 47,xyy 11.5
34 speech and communication disorders 11.5
35 digeorge syndrome 11.5
36 autism 10 11.5
37 autism 15 11.5
38 autism 18 11.5
39 autism 3 11.5
40 autism 11 11.5
41 autism 12 11.5
42 autism 16 11.5
43 jacobsen syndrome 11.5
44 autism x-linked 1 11.5
45 autism x-linked 5 11.5
46 autism x-linked 6 11.5
47 autism 8 11.5
48 autism 6 11.5
49 autism 7 11.5
50 autism 9 11.5

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

Drugs & Therapeutics for Autism Spectrum Disorder

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

(show top 50) (show all 348)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
Lithium carbonate Approved Phase 4 554-13-2
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
Minocycline Approved, Investigational Phase 4 10118-90-8 5281021
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
Metformin Approved Phase 4 657-24-9 4091 14219
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
Memantine Approved, Investigational Phase 4 19982-08-2 4054
Choline Approved, Nutraceutical Phase 4 62-49-7 305
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
20 Antibodies Phase 4
21 Immunoglobulins Phase 4
22 gamma-Globulins Phase 4
23 Immunoglobulins, Intravenous Phase 4
24 Rho(D) Immune Globulin Phase 4
25 Lipid Regulating Agents Phase 4
26 Hypolipidemic Agents Phase 4
27 N-monoacetylcystine Phase 4
28 Antidotes Phase 4
29 Respiratory System Agents Phase 4
30 Anti-Infective Agents Phase 4
31 Expectorants Phase 4
32 Antiviral Agents Phase 4
33 Antidepressive Agents Phase 4
34 Central Nervous System Depressants Phase 4
35 Tranquilizing Agents Phase 4
36 Serotonin Antagonists Phase 4
37 Serotonin 5-HT2 Receptor Antagonists Phase 4
38 Serotonin Agents Phase 4
39 Psychotropic Drugs Phase 4
40 Dopamine Antagonists Phase 4
41 Antipsychotic Agents Phase 4
42 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
43 Serotonin Uptake Inhibitors Phase 4
44 Serotonin Receptor Agonists Phase 4
45 Serotonin 5-HT1 Receptor Agonists Phase 4
46 Dopamine agonists Phase 4
47 Dopamine D2 Receptor Antagonists Phase 4
48 Gastrointestinal Agents Phase 4
49 insulin Phase 4
50 Insulin, Globin Zinc Phase 4

Interventional clinical trials:

(show top 50) (show all 850)
# Name Status NCT ID Phase Drugs
1 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%
2 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Unknown status NCT02940574 Phase 4 Syntocinon (Oxytocin)
3 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
4 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
5 Assessment and Follow Up Study of Children and Adolescent With Bipolar Disorder Unknown status NCT01000402 Phase 4 Psychopharmacotherapy
6 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
7 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
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 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
10 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
11 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
12 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
13 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
14 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
15 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
16 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
17 A Prospective Open-label Trial of Metformin for Weight Control of Pediatric Patients on Atypical Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
18 Open Label Trial of Aripiprazole in the Treatment of CD in Adolescents Completed NCT00250705 Phase 4 Aripiprazole
19 Methylphenidate Study in Young Children With Developmental Disorders Completed NCT00517504 Phase 4 Methylphenidate
20 A Pilot Study of Cranial Electrotherapy Stimulation[CES] for Generalized Anxiety Disorder Completed NCT00539357 Phase 4
21 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
22 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
23 Improving Driving in Young People With Autism Spectrum Disorders Recruiting NCT03538431 Phase 4 Buspirone
24 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
25 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
26 Randomized Double-blind Placebo-controlled Trial of Memantine Hydrochloride for the Treatment of Childhood-onset Epileptic Encephalopathies Recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg
27 Connecting the Dots: An RCT Integrating Standardized ASD Screening, High-Quality Treatment, and Long-Term Outcomes Enrolling by invitation NCT03333629 Phase 4
28 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
29 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
30 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
31 Effect of Probiotics on Central Nervous System Functions in Humans Unknown status NCT02793193 Phase 2, Phase 3 Antibiotic
32 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
33 A Randomized, Double-Blind, Placebo-Controlled, Cross-Over Pilot Study of Riluzole for Drug-Refractory Irritability in Autism Spectrum Disorders Completed NCT02081027 Phase 2, Phase 3 Riluzole;placebo
34 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
35 2/3 Treatment of Anxiety in Autism Spectrum Disorder Completed NCT02028247 Phase 3
36 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
37 Supporting the Well Being of Families of Young Children With Autism Spectrum Completed NCT01021384 Phase 3
38 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
39 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
40 Targeted Pharmacologic Interventions for Autism: A Double-Blind, Placebo-Controlled Trial of Atomoxetine in Children and Adolescents With Autism Completed NCT00498173 Phase 3 Atomoxetine;Placebo
41 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
42 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Completed NCT01972074 Phase 3 Memantine;Placebo
43 ADHD Symptoms in Autism: Cognition, Behavior, Treatment Completed NCT00178503 Phase 2, Phase 3 Methylphenidate-extended release;Methylphenidate-immediate release
44 A Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy, Safety, and Tolerability of STX209 (Arbaclofen) Administered for the Treatment of Social Function in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
45 Phase III Study of Autism Co-Morbid for Attention Deficit Hyperactivity Disorder Completed NCT00541346 Phase 3 Methylphenidate Transdermal System
46 A Randomized, Placebo-Controlled Trial of D-Cycloserine for the Enhancement of Social Skills Training in Pervasive Developmental Disorders Completed NCT01086475 Phase 3 D-cycloserine;Placebo
47 Randomized Control Trial of Using Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
48 A Randomized, Placebo-controlled Study to Investigate the Efficacy and Safety of Circadin® to Alleviate Sleep Disturbances in Children With Neurodevelopmental Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
49 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3
50 Open Label Clinical Trial of Vitamin D Dosage Tolerability, and Effect on Behavioral Measures in Children With Autism Completed NCT01535508 Phase 2, Phase 3 Liquid Vitamin D

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 29 PTCHD1 RPL10 SHANK2

Anatomical Context for Autism Spectrum Disorder

MalaCards organs/tissues related to Autism Spectrum Disorder:

Brain, Testes, Eye, Cortex, Amygdala, Prefrontal Cortex, Cerebellum

Publications for Autism Spectrum Disorder

Articles related to Autism Spectrum Disorder:

(show top 50) (show all 20454)
# Title Authors PMID Year
Barriers faced by immigrant families of children with autism: A program to address the challenges. 38 17
30572272 2019
Heterogeneous dysregulation of microRNAs across the autism spectrum. 38 88
18563458 2008
Healthcare Providers' Experiences with Autism: A Scoping Review. 17
30758692 2019
Will extra training improve care of service users with learning disabilities or autism? 17
30907657 2019
Understanding the characteristics of friendship quality, activity participation, and emotional well-being in Taiwanese adolescents with autism spectrum disorder. 38
29529904 2019
The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice. 38
31150793 2019
The use of iPSC technology for modeling Autism Spectrum Disorders. 38
31129084 2019
Motor difficulties are associated with impaired perception of interactive human movement in autism spectrum disorder: A pilot study. 38
31242802 2019
Are preconceptional stressful experiences crucial elements for the aetiology of autism spectrum disorder? Insights from an animal model. 38
31247268 2019
Differences in the expression of restricted repetitive behaviors in female and male BTBR T + tf/J mice. 38
31212059 2019
Developmental exposure to polychlorinated biphenyls (PCBs) in the maternal diet causes host-microbe defects in weanling offspring mice. 38
31336350 2019
Anxiety Levels of Children with Developmental Disorders in Japan: Based on Reports Provided by Parents. 38
31177370 2019
Neurotoxicity of polychlorinated biphenyls and related organohalogens. 38
30976975 2019
Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders. 38
30976114 2019
Neurocognitive and behavioural outcomes in offspring exposed to maternal pre-existing diabetes: a systematic review and meta-analysis. 38
31278412 2019
Pre-emptive intervention versus treatment as usual for infants showing early behavioural risk signs of autism spectrum disorder: a single-blind, randomised controlled trial. 38
31324597 2019
The role of maternal immune activation in altering the neurodevelopmental trajectories of offspring: A translational review of neuroimaging studies with implications for autism spectrum disorder and schizophrenia. 38
31265870 2019
Creativity in Autism: An Examination of General and Mathematical Creative Thinking Among Children with Autism Spectrum Disorder and Children with Typical Development. 38
31183666 2019
Time to rethink pre-emptive interventions for infants with early signs of autism spectrum disorder. 38
31324598 2019
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort. 38
31038196 2019
From pattern classification to stratification: towards conceptualizing the heterogeneity of Autism Spectrum Disorder. 38
31330196 2019
Adults with autism are less proficient in identifying biological motion actions portrayed with point-light displays. 38
31020725 2019
Diagnosis and Management of Autism Spectrum Disorders in Russia: Clinical-Biological Approaches. 38
31124027 2019
Brief Report: Vocabulary and Grammatical Skills of Bilingual Children with Autism Spectrum Disorders at School Age. 38
31124028 2019
Awareness and Knowledge Associated with Autism Spectrum Disorders Among University Students in Zambia. 38
31140012 2019
Anger Rumination is Associated with Restricted and Repetitive Behaviors in Children with Autism Spectrum Disorder. 38
31144231 2019
Effectiveness of Social Stories in Teaching Abduction-Prevention Skills to Children with Autism. 38
31175503 2019
Promoting Executive Functioning in Children with Autism Spectrum Disorder Through Mixed Martial Arts Training. 38
31240587 2019
Accuracy of the Childhood Autism Rating Scale: a systematic review and meta-analysis. 38
30977125 2019
Rates of Co-occurring Psychiatric Disorders in Autism Spectrum Disorder Using the Mini International Neuropsychiatric Interview. 38
31175504 2019
Vitamin A and vitamin D deficiencies exacerbate symptoms in children with autism spectrum disorders. 38
29338670 2019
Discrimination and Generalization of Negatively-Reinforced Mands in Young Children With Autism Spectrum Disorder. 38
29923746 2019
Practical Considerations for School Nurses in Improving the Nutrition of Children With Autism Spectrum Disorder. 38
30667297 2019
Bladder and bowel dysfunction, adaptive behaviour and psychiatric profiles in adults affected by autism spectrum disorders. 38
31270838 2019
Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder. 38
31161481 2019
Atypical Pattern of Frontal EEG Asymmetry for Direct Gaze in Young Children with Autism Spectrum Disorder. 38
31124026 2019
Early Life Exposure to Antibiotics and Autism Spectrum Disorders: A Systematic Review. 38
31175505 2019
The CHARGE study: an assessment of parental occupational exposures and autism spectrum disorder. 38
31248991 2019
Interoception is Impaired in Children, But Not Adults, with Autism Spectrum Disorder. 38
31127487 2019
Parenting Behaviors as Predictive of Early Student-Teacher Relationships in ASD. 38
31127483 2019
Interest in Research Participation Among Caregivers of Children with Neurodevelopmental Disorders. 38
31172337 2019
Use of GFCF Diets in Children with ASD. An Investigation into Parents' Beliefs Using the Theory of Planned Behaviour. 38
31165958 2019
Effectiveness of Parent Education in Pivotal Response Treatment on Pivotal and Collateral Responses. 38
31127486 2019
Putative contributions of the sex chromosome proteins SOX3 and SRY to neurodevelopmental disorders. 38
30537354 2019
A Conflict of Interests: A Motivational Perspective on Special Interests and Employment Success of Adults with ASD. 38
31177369 2019
Judging social interaction in the Heider and Simmel movie. 38
30827187 2019
Vitamin D and the nervous system. 38
31142227 2019
Early developmental pathways to childhood symptoms of attention-deficit hyperactivity disorder, anxiety and autism spectrum disorder. 38
29963709 2019
On measuring regression in autism spectrum disorder: A commentary. 38
31283954 2019
Maternal protein malnutrition induces autism-like symptoms in rat offspring. 38
29375017 2019

Variations for Autism Spectrum Disorder

ClinVar genetic disease variations for Autism Spectrum Disorder:

6 (show top 50) (show all 452)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ): c.4207G> A (p.Ala1403Thr) single nucleotide variant association 1:151377304-151377304 1:151404828-151404828
2 POGZ NM_015100.4(POGZ): c.4132A> C (p.Thr1378Pro) single nucleotide variant association rs370498156 1:151377379-151377379 1:151404903-151404903
3 POGZ NM_015100.4(POGZ): c.4042G> C (p.Glu1348Gln) single nucleotide variant association rs756691187 1:151377469-151377469 1:151404993-151404993
4 POGZ NM_015100.4(POGZ): c.3880T> C (p.Ser1294Pro) single nucleotide variant association 1:151377631-151377631 1:151405155-151405155
5 POGZ NM_015100.4(POGZ): c.3806A> G (p.Lys1269Arg) single nucleotide variant association 1:151377705-151377705 1:151405229-151405229
6 POGZ NM_015100.4(POGZ): c.3802A> G (p.Ile1268Val) single nucleotide variant association 1:151377709-151377709 1:151405233-151405233
7 POGZ NM_015100.4(POGZ): c.3772A> T (p.Ser1258Cys) single nucleotide variant association 1:151377739-151377739 1:151405263-151405263
8 POGZ NM_015100.4(POGZ): c.3659A> G (p.Gln1220Arg) single nucleotide variant association rs769581210 1:151377852-151377852 1:151405376-151405376
9 POGZ NM_015100.4(POGZ): c.3559C> T (p.Pro1187Ser) single nucleotide variant association rs202098093 1:151377952-151377952 1:151405476-151405476
10 POGZ NM_015100.4(POGZ): c.3388T> G (p.Leu1130Val) single nucleotide variant association 1:151378123-151378123 1:151405647-151405647
11 POGZ NM_015100.4(POGZ): c.3373A> G (p.Ile1125Val) single nucleotide variant association rs760211123 1:151378138-151378138 1:151405662-151405662
12 POGZ NM_015100.4(POGZ): c.3343C> G (p.Gln1115Glu) single nucleotide variant association rs778792467 1:151378168-151378168 1:151405692-151405692
13 POGZ NM_015100.4(POGZ): c.3116G> A (p.Arg1039His) single nucleotide variant association rs760059077 1:151378395-151378395 1:151405919-151405919
14 POGZ NM_015100.4(POGZ): c.2792C> T (p.Pro931Leu) single nucleotide variant association rs373783340 1:151378719-151378719 1:151406243-151406243
15 POGZ NM_015100.4(POGZ): c.2705C> T (p.Thr902Ile) single nucleotide variant association 1:151378806-151378806 1:151406330-151406330
16 POGZ NM_015100.4(POGZ): c.2608G> A (p.Val870Met) single nucleotide variant association rs772572695 1:151378903-151378903 1:151406427-151406427
17 POGZ NM_015100.4(POGZ): c.2591G> A (p.Arg864Gln) single nucleotide variant association rs753214391 1:151378920-151378920 1:151406444-151406444
18 POGZ NM_015100.4(POGZ): c.2557A> G (p.Ile853Val) single nucleotide variant association rs749270162 1:151379096-151379096 1:151406620-151406620
19 POGZ NM_015100.4(POGZ): c.2542C> T (p.Arg848Trp) single nucleotide variant association rs548226228 1:151379390-151379390 1:151406914-151406914
20 POGZ NM_015100.4(POGZ): c.2396G> A (p.Ser799Asn) single nucleotide variant association 1:151379747-151379747 1:151407271-151407271
21 POGZ NM_015100.4(POGZ): c.1978A> G (p.Lys660Glu) single nucleotide variant association 1:151381253-151381253 1:151408777-151408777
22 POGZ NM_015100.4(POGZ): c.1948A> C (p.Asn650His) single nucleotide variant association 1:151381283-151381283 1:151408807-151408807
23 POGZ NM_015100.4(POGZ): c.1940A> C (p.Tyr647Ser) single nucleotide variant association rs749548928 1:151381291-151381291 1:151408815-151408815
24 POGZ NM_015100.4(POGZ): c.1549G> A (p.Val517Ile) single nucleotide variant association rs754532606 1:151396002-151396002 1:151423526-151423526
25 POGZ NM_015100.4(POGZ): c.1445C> G (p.Ala482Gly) single nucleotide variant association 1:151396503-151396503 1:151424027-151424027
26 POGZ NM_015100.4(POGZ): c.1427G> A (p.Arg476Gln) single nucleotide variant association rs763820362 1:151396521-151396521 1:151424045-151424045
27 POGZ NM_015100.4(POGZ): c.1375G> A (p.Asp459Asn) single nucleotide variant association rs888864913 1:151396573-151396573 1:151424097-151424097
28 POGZ NM_015100.4(POGZ): c.1318C> G (p.Pro440Ala) single nucleotide variant association 1:151396630-151396630 1:151424154-151424154
29 POGZ NM_015100.4(POGZ): c.1072A> G (p.Met358Val) single nucleotide variant association rs574158925 1:151400305-151400305 1:151427829-151427829
30 POGZ NM_015100.4(POGZ): c.970C> G (p.Leu324Val) single nucleotide variant association 1:151400407-151400407 1:151427931-151427931
31 POGZ NM_015100.4(POGZ): c.942C> G (p.Ser314Arg) single nucleotide variant association rs574335012 1:151400435-151400435 1:151427959-151427959
32 POGZ NM_015100.4(POGZ): c.902T> C (p.Phe301Ser) single nucleotide variant association 1:151400475-151400475 1:151427999-151427999
33 POGZ NM_015100.4(POGZ): c.860C> T (p.Ala287Val) single nucleotide variant association 1:151400517-151400517 1:151428041-151428041
34 POGZ NM_015100.4(POGZ): c.830A> G (p.Gln277Arg) single nucleotide variant association rs561369202 1:151400628-151400628 1:151428152-151428152
35 POGZ NM_015100.4(POGZ): c.794C> G (p.Thr265Ser) single nucleotide variant association 1:151400664-151400664 1:151428188-151428188
36 POGZ NM_015100.4(POGZ): c.749A> G (p.Lys250Arg) single nucleotide variant association 1:151400709-151400709 1:151428233-151428233
37 POGZ NM_015100.4(POGZ): c.625A> T (p.Met209Leu) single nucleotide variant association 1:151400833-151400833 1:151428357-151428357
38 POGZ NM_015100.4(POGZ): c.499A> G (p.Met167Val) single nucleotide variant association rs375045125 1:151402148-151402148 1:151429672-151429672
39 POGZ NM_015100.4(POGZ): c.319C> G (p.Leu107Val) single nucleotide variant association rs998675361 1:151403282-151403282 1:151430806-151430806
40 POGZ NM_015100.4(POGZ): c.303G> T (p.Gln101His) single nucleotide variant association 1:151403298-151403298 1:151430822-151430822
41 POGZ NM_015100.4(POGZ): c.272C> A (p.Ala91Asp) single nucleotide variant association 1:151413415-151413415 1:151440939-151440939
42 POGZ NM_015100.4(POGZ): c.211G> A (p.Val71Ile) single nucleotide variant association rs866632178 1:151413476-151413476 1:151441000-151441000
43 WWOX duplication association
44 WWOX deletion association
45 WWOX deletion association
46 WWOX duplication association
47 WWOX duplication association 16:77626860-78140002 :0-0
48 WWOX duplication association 16:77961259-78463424 :0-0
49 WWOX duplication association 16:77967322-78604831 :0-0
50 WWOX deletion association 16:78939658-79076810 16:78905761-79042913

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 11.95 MIR23A MIR128-1 MIR106B MAP2K1
2 11.59 TSC2 MEF2C MAP2K1
3 11.06 MIR132 MIR128-1 MIR106A
4 10.38 MIR146B MIR128-1 MEF2C

GO Terms for Autism Spectrum Disorder

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

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor complex GO:0008328 8.96 SHANK3 SHANK2
2 neuron spine GO:0044309 8.62 SHANK3 SHANK2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of excitatory postsynaptic potential GO:2000463 9.56 SHANK3 SHANK2
2 negative regulation of vascular endothelial cell proliferation GO:1905563 9.55 MIR132 MEF2C
3 positive regulation of dendritic spine development GO:0060999 9.54 SHANK3 SHANK2
4 miRNA mediated inhibition of translation GO:0035278 9.54 MIR132 MIR106B MIR106A
5 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.52 MIR23A MIR132
6 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.51 MIR140 MEF2C
7 social behavior GO:0035176 9.5 SHANK3 SHANK2 PTCHD1
8 brain morphogenesis GO:0048854 9.49 SHANK3 SHANK2
9 dendritic spine morphogenesis GO:0060997 9.48 SHANK3 SHANK2
10 vocalization behavior GO:0071625 9.4 SHANK3 SHANK2
11 synaptic growth at neuromuscular junction GO:0051124 9.26 SHANK3 SHANK2
12 gene silencing by miRNA GO:0035195 9.17 MIR23A MIR146B MIR140 MIR132 MIR128-1 MIR106B
13 long-term synaptic depression GO:0060292 9.16 SHANK2
14 postsynaptic density assembly GO:0097107 9.16 SHANK3 SHANK2
15 exploration behavior GO:0035640 9.13 SHANK2
16 regulation of AMPA receptor activity GO:2000311 9.13 SHANK3 SHANK2 MEF2C

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.17 MIR23A MIR146B MIR140 MIR132 MIR128-1 MIR106B
2 receptor signaling complex scaffold activity GO:0030159 9.16 SHANK3 SHANK2
3 GKAP/Homer scaffold activity GO:0030160 8.96 SHANK3 SHANK2

Sources for Autism Spectrum Disorder

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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