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 52 25 53 29 6 42 43 15 17
Autism Spectrum Disorders 15 71
Asd 52 25
Pervasive Developmental Disorder 25
Pervasive Development Disorder 71
Autistic Continuum 25
Autistic Behavior 71


External Ids:

Disease Ontology 12 DOID:0060041
MeSH 43 D000067877
UMLS 71 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 is Parkinsons Disease 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 : 52 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 : 42 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 : 53 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 : 74 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 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 952)
# Related Disease Score Top Affiliating Genes
1 autism 35.6 TSC2 SHANK3 SHANK2 RPL10 RNF135 PTCHD1
2 pervasive developmental disorder 34.5 TSC2 SHANK2 RPL10 PTCHD1 MIR93 MIR598
3 pitt-hopkins syndrome 33.5 MEF2C MBD5 EHMT1
4 schizophrenia 31.3 SHANK3 SHANK2 MIR212 MIR132 MBD5 EHMT1
5 sotos syndrome 1 31.2 RNF135 MBD5 EHMT1
6 focal epilepsy 30.6 TSC2 MIR212 MIR21 MIR132
7 nervous system disease 29.9 MIR93 MIR212 MIR21 MIR140 MIR132 ANKRD11
8 endocrine system disease 29.9 MIR93 MIR21 MIR140 MIR132
9 immune system disease 29.9 MIR93 MIR21 MIR140 MIR132
10 central nervous system disease 29.8 MIR93 MIR212 MIR21 MIR140 MIR132
11 adnp-related intellectual disability and autism spectrum disorder 12.6
12 helsmoortel-van der aa syndrome 12.4
13 patent foramen ovale 12.2
14 arthrogryposis, mental retardation, and seizures 12.2
15 atrial septal defect 1 11.9
16 asperger syndrome 11.9
17 anterior segment dysgenesis 11.8
18 mental retardation, autosomal recessive 38 11.7
19 mental retardation, autosomal dominant 26 11.7
20 chromosome 15q13.3 deletion syndrome 11.7
21 attention deficit-hyperactivity disorder 11.7
22 fragile x syndrome 11.7
23 atrial septal defect ostium primum 11.7
24 atrial septal defect 7 with or without atrioventricular conduction defects 11.7
25 chromosome 15q11.2 deletion syndrome 11.7
26 autism x-linked 4 11.6
27 timothy syndrome 11.6
28 intellectual developmental disorder with autism and speech delay 11.6
29 white-sutton syndrome 11.6
30 16p11.2 duplication 11.6
31 atrial septal defect coronary sinus 11.6
32 developmental delay with variable intellectual impairment and behavioral abnormalities 11.6
33 syngap1-related intellectual disability 11.6
34 down syndrome 11.6
35 rett syndrome 11.5
36 specific language impairment 11.5
37 atypical autism 11.5
38 47,xyy 11.5
39 atrial heart septal defect 11.5
40 tuberous sclerosis 1 11.5
41 speech and communication disorders 11.5
42 digeorge syndrome 11.5
43 childhood disintegrative disease 11.5
44 autism 10 11.5
45 autism 15 11.5
46 autism 18 11.5
47 autism 16 11.5
48 autism 3 11.5
49 autism 11 11.5
50 autism 12 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 320)
# 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
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
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 14219 4091
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
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
21 Immunoglobulins Phase 4
22 Antibodies Phase 4
23 Immunoglobulins, Intravenous Phase 4
24 Rho(D) Immune Globulin Phase 4
25 gamma-Globulins Phase 4
26 Hypolipidemic Agents Phase 4
27 Lipid Regulating Agents Phase 4
28 Vasodilator Agents Phase 4
29 Respiratory System Agents Phase 4
30 Anti-Infective Agents Phase 4
31 Antiviral Agents Phase 4
32 Antidotes Phase 4
33 Expectorants Phase 4
34 N-monoacetylcystine Phase 4
35 Antidepressive Agents Phase 4
36 Dopamine Antagonists Phase 4
37 Antipsychotic Agents Phase 4
38 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
39 Serotonin Uptake Inhibitors Phase 4
40 Serotonin Receptor Agonists Phase 4
41 Dopamine agonists Phase 4
42 Serotonin 5-HT1 Receptor Agonists Phase 4
43 Gastrointestinal Agents Phase 4
44 Insulin, Globin Zinc Phase 4
45 insulin Phase 4
46 Anti-Bacterial Agents Phase 4
47 Antibiotics, Antitubercular Phase 4
48 Atomoxetine Hydrochloride Phase 4
49 Antiemetics Phase 4
50 Excitatory Amino Acid Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 956)
# 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 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
3 Assessment and Follow Up Study of Children and Adolescent With Bipolar Disorder Unknown status NCT01000402 Phase 4 Psychopharmacotherapy
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 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
6 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
7 Improving Driving in Young People With Autism Spectrum Disorders Completed NCT03538431 Phase 4 Buspirone
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 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Completed NCT02940574 Phase 4 Syntocinon (Oxytocin)
13 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
14 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
15 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
16 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
17 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
18 Open Label Trial of Aripiprazole in the Treatment of CD in Adolescents Completed NCT00250705 Phase 4 Aripiprazole
19 A Prospective Open-label Trial of Metformin for Weight Control of Pediatric Patients on Atypical Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
20 Methylphenidate Study in Young Children With Developmental Disorders Completed NCT00517504 Phase 4 Methylphenidate
21 A Pilot Study of Cranial Electrotherapy Stimulation[CES] for Generalized Anxiety Disorder Completed NCT00539357 Phase 4
22 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
23 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
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 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
38 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Completed NCT01972074 Phase 3 Memantine
39 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
40 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
41 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
42 Testing a Novel Speech Intervention in Minimally Verbal Children With Autism Spectrum Disorder (ASD) Completed NCT03015272 Phase 2, Phase 3
43 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
44 ADHD Symptoms in Autism: Cognition, Behavior, Treatment Completed NCT00178503 Phase 2, Phase 3 Methylphenidate-extended release;Methylphenidate-immediate release
45 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
46 Phase III Study of Autism Co-Morbid for Attention Deficit Hyperactivity Disorder Completed NCT00541346 Phase 3 Methylphenidate Transdermal System
47 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
48 Randomized Control Trial of Using Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
49 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
50 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3

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 23109)
# Title Authors PMID Year
Primary care of children with autism spectrum disorders: Developing confident healthcare leaders. 42 61
32332232 2020
The risk for scurvy in children with neurodevelopmental disorders. 42 61
32330999 2020
Autism spectrum disorders and oral health status: review of the literature. 42 61
32183521 2020
Heterogeneous dysregulation of microRNAs across the autism spectrum. 46 61
18563458 2008
Polymorphism of interleukin-1β and interleukin-1 receptor antagonist genes in children with autism spectrum disorders. 61
32526258 2020
Hypofunctional connectivity between the posterior cingulate cortex and ventromedial prefrontal cortex in autism: Evidence from coordinate-based imaging meta-analysis. 61
32473190 2020
Vaccines and autism: a preliminary qualitative study on the beliefs of concerned mothers in Italy. 61
32298221 2020
Effects of the video game 'Mindlight' on anxiety of children with an autism spectrum disorder: A randomized controlled trial. 61
32155470 2020
Elevated basal transcription can underlie timothy channel association with autism related disorders. 61
32437834 2020
Neural responses in autism during movie watching: Inter-individual response variability co-varies with symptomatology. 61
31987996 2020
Hormonal contraceptives and autism epidemics. 61
32304984 2020
A preliminary investigation of the effects of prenatal alcohol exposure on facial morphology in children with Autism Spectrum Disorder. 61
32243902 2020
Social cognition in context: A naturalistic imaging approach. 61
31770637 2020
Inhibition of striatal-enriched protein tyrosine phosphatase (STEP) activity reverses behavioral deficits in a rodent model of autism. 61
32461127 2020
Microbiota-gut-brain axis in health and disease: Is NLRP3 inflammasome at the crossroads of microbiota-gut-brain communications? 61
32473843 2020
Pesticides used in Europe and autism spectrum disorder risk: can novel exposure hypotheses be formulated beyond organophosphates, organochlorines, pyrethroids and carbamates? - A systematic review. 61
32460093 2020
The relationship between sensory sensitivity, food fussiness and food preferences in children with neurodevelopmental disorders. 61
32105808 2020
Neurobehavioral changes arising from early life dopamine signaling perturbations. 61
32325191 2020
Dysregulation of synaptic pruning as a possible link between intestinal microbiota dysbiosis and neuropsychiatric disorders. 61
32239720 2020
Primary care of children with autism spectrum disorder: Pilot program results. 61
32568797 2020
Blunted serum 25(OH)D response to vitamin D3 supplementation in children with autism. 61
30301427 2020
Evaluation of a Transition to University Programme for Students with Autism Spectrum Disorder. 61
30315485 2020
Evidence of Validity of the Autism Mental Status Examination (AMSE) in a Brazilian Sample. 61
29532353 2020
Spanish Cultural Validation of the Modified Checklist for Autism in Toddlers, Revised. 61
30328577 2020
Association of sensory sensitivities and toothbrushing cooperation in autism spectrum disorder. 61
32011037 2020
Parental acceptance of silver diammine fluoride in children with autism spectrum disorder. 61
32012376 2020
Ensemble Deep Learning on Large, Mixed-Site fMRI Datasets in Autism and Other Tasks. 61
32308082 2020
Stakeholder perspectives on transition planning, implementation, and outcomes for students with autism spectrum disorder. 61
31957461 2020
Association between Autism Spectrum Disorder and Caregiver-Reported Dental Caries in Children. 61
31490715 2020
Comparing cross-situational word learning, retention, and generalisation in children with autism and typical development. 61
32259659 2020
Maternal polyunsaturated fatty acids and risk for autism spectrum disorder in the MARBLES high-risk study. 61
31958995 2020
Relationship Between Early Social-Emotional Behavior and Autism Spectrum Disorder: A High-Risk Sibling Study. 61
30852785 2020
Adaptive behavior and its related factors in children with focal epilepsy. 61
32320922 2020
Social skills and autism spectrum disorder symptoms in children with neurofibromatosis type 1: evidence for clinical trial outcomes. 61
32181506 2020
Intellectual functioning and behavior in Dravet syndrome: A systematic review. 61
32334365 2020
Functional Behavior-Based Cognitive-Behavioral Therapy for Obsessive Compulsive Behavior in Children with Autism Spectrum Disorder: A Randomized Controlled Trial. 61
30293128 2020
Targeting the microbiota in pharmacology of psychiatric disorders. 61
32389857 2020
Toward Neurosubtypes in Autism. 61
32553193 2020
Indigenous Australians with autism: A scoping review. 61
31928063 2020
Catatonia in Patients with Autism Spectrum Disorder. 61
32471594 2020
Seizures and Epilepsy in Autism Spectrum Disorder. 61
32471597 2020
Gastrointestinal Issues and Autism Spectrum Disorder. 61
32471598 2020
Nutritional interventions for autism spectrum disorder. 61
31876938 2020
Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. 61
30343463 2020
Convergent brain microstructure across multiple genetic models of schizophrenia and autism spectrum disorder: A feasibility study. 61
32298718 2020
Proposed brief diagnostic observational scale for autism spectrum disorder. 61
32222044 2020
Expediting clinician assessment in the diagnosis of autism spectrum disorder. 61
32239502 2020
Sexuality and Gender Issues in Individuals with Autism Spectrum Disorder. 61
32471601 2020
The Specificity and Independent Contribution of Inhibition, Working Memory, and Reaction Time Variability in Relation to Symptoms of ADHD and ASD. 61
26006167 2020
Comparing Computer-Assisted and Teacher-Implemented Visual Matching Instruction for Children with ASD and/or Other DD. 61
30864058 2020

Variations for Autism Spectrum Disorder

ClinVar genetic disease variations for Autism Spectrum Disorder:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POGZ NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr)SNV association 560551 rs1452048149 1:151377304-151377304 1:151404828-151404828
2 POGZ NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro)SNV association 560552 rs370498156 1:151377379-151377379 1:151404903-151404903
3 POGZ NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln)SNV association 560553 rs756691187 1:151377469-151377469 1:151404993-151404993
4 POGZ NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro)SNV association 560554 rs1484207450 1:151377631-151377631 1:151405155-151405155
5 POGZ NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg)SNV association 560555 rs1557863430 1:151377705-151377705 1:151405229-151405229
6 POGZ NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val)SNV association 560556 rs1557863440 1:151377709-151377709 1:151405233-151405233
7 POGZ NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys)SNV association 560557 rs1557863546 1:151377739-151377739 1:151405263-151405263
8 POGZ NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg)SNV association 560558 rs769581210 1:151377852-151377852 1:151405376-151405376
9 POGZ NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser)SNV association 560560 rs202098093 1:151377952-151377952 1:151405476-151405476
10 POGZ NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val)SNV association 560561 rs1276388879 1:151378123-151378123 1:151405647-151405647
11 POGZ NM_015100.4(POGZ):c.3373A>G (p.Ile1125Val)SNV association 560562 rs760211123 1:151378138-151378138 1:151405662-151405662
12 POGZ NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu)SNV association 560563 rs778792467 1:151378168-151378168 1:151405692-151405692
13 POGZ NM_015100.4(POGZ):c.3116G>A (p.Arg1039His)SNV association 560564 rs760059077 1:151378395-151378395 1:151405919-151405919
14 POGZ NM_015100.4(POGZ):c.2792C>T (p.Pro931Leu)SNV association 560565 rs373783340 1:151378719-151378719 1:151406243-151406243
15 POGZ NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile)SNV association 560566 rs1557867853 1:151378806-151378806 1:151406330-151406330
16 POGZ NM_015100.4(POGZ):c.2608G>A (p.Val870Met)SNV association 560567 rs772572695 1:151378903-151378903 1:151406427-151406427
17 POGZ NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln)SNV association 560568 rs753214391 1:151378920-151378920 1:151406444-151406444
18 POGZ NM_015100.4(POGZ):c.2557A>G (p.Ile853Val)SNV association 560569 rs749270162 1:151379096-151379096 1:151406620-151406620
19 POGZ NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp)SNV association 560570 rs548226228 1:151379390-151379390 1:151406914-151406914
20 POGZ NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn)SNV association 560571 rs1557870645 1:151379747-151379747 1:151407271-151407271
21 POGZ NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu)SNV association 560572 rs1418634444 1:151381253-151381253 1:151408777-151408777
22 POGZ NM_015100.4(POGZ):c.1948A>C (p.Asn650His)SNV association 560573 rs1557874046 1:151381283-151381283 1:151408807-151408807
23 POGZ NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser)SNV association 560574 rs749548928 1:151381291-151381291 1:151408815-151408815
24 POGZ NM_015100.4(POGZ):c.1549G>A (p.Val517Ile)SNV association 560575 rs754532606 1:151396002-151396002 1:151423526-151423526
25 POGZ NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly)SNV association 560576 rs1557901347 1:151396503-151396503 1:151424027-151424027
26 POGZ NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln)SNV association 560577 rs763820362 1:151396521-151396521 1:151424045-151424045
27 POGZ NM_015100.4(POGZ):c.1375G>A (p.Asp459Asn)SNV association 560578 rs888864913 1:151396573-151396573 1:151424097-151424097
28 POGZ NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala)SNV association 560579 rs1557902023 1:151396630-151396630 1:151424154-151424154
29 POGZ NM_015100.4(POGZ):c.1072A>G (p.Met358Val)SNV association 560580 rs574158925 1:151400305-151400305 1:151427829-151427829
30 POGZ NM_015100.4(POGZ):c.970C>G (p.Leu324Val)SNV association 560581 rs1557909572 1:151400407-151400407 1:151427931-151427931
31 POGZ NM_015100.4(POGZ):c.942C>G (p.Ser314Arg)SNV association 560582 rs574335012 1:151400435-151400435 1:151427959-151427959
32 POGZ NM_015100.4(POGZ):c.902T>C (p.Phe301Ser)SNV association 560583 rs1557909821 1:151400475-151400475 1:151427999-151427999
33 POGZ NM_015100.4(POGZ):c.860C>T (p.Ala287Val)SNV association 560584 rs1372713010 1:151400517-151400517 1:151428041-151428041
34 POGZ NM_015100.4(POGZ):c.830A>G (p.Gln277Arg)SNV association 560585 rs561369202 1:151400628-151400628 1:151428152-151428152
35 POGZ NM_015100.4(POGZ):c.794C>G (p.Thr265Ser)SNV association 560586 rs1476293577 1:151400664-151400664 1:151428188-151428188
36 POGZ NM_015100.4(POGZ):c.749A>G (p.Lys250Arg)SNV association 560588 rs1557910728 1:151400709-151400709 1:151428233-151428233
37 POGZ NM_015100.4(POGZ):c.625A>T (p.Met209Leu)SNV association 560589 rs1557911386 1:151400833-151400833 1:151428357-151428357
38 POGZ NM_015100.4(POGZ):c.499A>G (p.Met167Val)SNV association 560590 rs375045125 1:151402148-151402148 1:151429672-151429672
39 POGZ NM_015100.4(POGZ):c.319C>G (p.Leu107Val)SNV association 560591 rs998675361 1:151403282-151403282 1:151430806-151430806
40 POGZ NM_015100.4(POGZ):c.303G>T (p.Gln101His)SNV association 560592 rs1557916296 1:151403298-151403298 1:151430822-151430822
41 POGZ NM_015100.4(POGZ):c.272C>A (p.Ala91Asp)SNV association 560593 rs1557935477 1:151413415-151413415 1:151440939-151440939
42 POGZ NM_015100.4(POGZ):c.211G>A (p.Val71Ile)SNV association 560594 rs866632178 1:151413476-151413476 1:151441000-151441000
43 WWOX duplication association 236339
44 WWOX duplication association 236386 16:77967322-78604831
45 WWOX deletion association 236387 16:78939658-79076810 16:78905761-79042913
46 WWOX duplication association 236384 16:77626860-78140002
47 WWOX duplication association 236385 16:77961259-78463424
48 WWOX duplication association 236336
49 WWOX deletion association 236337
50 WWOX deletion association 236338

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 10.72 MIR212 MIR132 MIR128-1

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 gene expression GO:0010628 9.8 MIR212 MIR21 MIR140 MIR132 MEF2C MAP2K1
2 miRNA mediated inhibition of translation GO:0035278 9.71 MIR212 MIR21 MIR132
3 social behavior GO:0035176 9.63 SHANK3 SHANK2 PTCHD1
4 negative regulation of blood vessel endothelial cell migration GO:0043537 9.58 MIR212 MIR132 MEF2C
5 negative regulation of nitric oxide biosynthetic process GO:0045019 9.56 MIR212 MIR132
6 dendritic spine morphogenesis GO:0060997 9.55 SHANK3 SHANK2
7 vocalization behavior GO:0071625 9.52 SHANK3 SHANK2
8 behavior GO:0007610 9.51 SHANK3 SHANK2
9 gene silencing by miRNA GO:0035195 9.5 MIR93 MIR598 MIR212 MIR21 MIR140 MIR132
10 negative regulation of nitric-oxide synthase activity GO:0051001 9.49 MIR212 MIR132
11 negative regulation of peptidyl-cysteine S-nitrosylation GO:1902083 9.48 MIR212 MIR132
12 synaptic growth at neuromuscular junction GO:0051124 9.43 SHANK3 SHANK2
13 regulation of AMPA receptor activity GO:2000311 9.43 SHANK3 SHANK2 MEF2C
14 postsynaptic density assembly GO:0097107 9.37 SHANK3 SHANK2
15 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.33 MIR21 MIR140 MEF2C
16 negative regulation of gene expression GO:0010629 9.1 MIR93 MIR212 MIR21 MIR132 MEF2C MAP2K1

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 9.1 MIR93 MIR212 MIR21 MIR140 MIR132 MIR128-1
2 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
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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