MCID: ATS007
MIFTS: 67

Autism Spectrum Disorder

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 54 26 30 6 44 45 15 17
Asd 54 26
Pervasive Developmental Disorder 26
Pervasive Development Disorder 74
Autism Spectrum Disorders 74
Autistic Continuum 26
Autistic Behavior 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0060041
MeSH 45 D000067877

Summaries for Autism Spectrum Disorder

MedlinePlus : 44 Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person's life. It affects how a person acts and interacts with others, communicates, and learns. It includes what used to be known as Asperger syndrome and pervasive developmental disorders. It is called a "spectrum" disorder because people with ASD can have a range of symptoms. People with ASD might have problems talking with you, or they might not look you in the eye when you talk to them. They may also have restricted interests and repetitive behaviors. They may spend a lot of time putting things in order, or they may say the same sentence again and again. They may often seem to be in their "own world." At well-child checkups, the health care provider should check your child's development. If there are signs of ASD, your child will have a comprehensive evaluation. It may include a team of specialists, doing various tests and evaluations to make a diagnosis. The causes of ASD are not known. Research suggests that both genes and environment play important roles. There is currently no one standard treatment for ASD. There are many ways to increase your child's ability to grow and learn new skills. Starting them early can lead to better results. Treatments include behavior and communication therapies, skills training, and medicines to control symptoms. NIH: National Institute of Child Health and Human Development

MalaCards based summary : Autism Spectrum Disorder, also known as asd, 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 Oxytocin and Acetylcholine 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.

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

NINDS : 55 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.

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

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

(show top 50) (show all 458)
# Related Disease Score Top Affiliating Genes
1 autism 34.0 EHMT1 PTCHD1 RPL10 SHANK2 SHANK3 TSC2
2 pervasive developmental disorder 33.8 PTCHD1 RPL10 SHANK2 SHANK3 TSC2
3 kleefstra syndrome 30.1 EHMT1 MBD5
4 adnp-related intellectual disability and autism spectrum disorder 12.3
5 adnp syndrome 12.0
6 arthrogryposis, mental retardation, and seizures 12.0
7 patent foramen ovale 11.9
8 atrial septal defect 1 11.8
9 helsmoortel-van der aa syndrome 11.8
10 asperger syndrome 11.8
11 anterior segment dysgenesis 11.6
12 mental retardation, autosomal recessive 38 11.6
13 atrial septal defect ostium primum 11.6
14 atrial septal defect 7 with or without atrioventricular conduction defects 11.6
15 autism x-linked 4 11.5
16 timothy syndrome 11.5
17 chromosome 15q13.3 deletion syndrome 11.5
18 white-sutton syndrome 11.5
19 childhood disintegrative disease 11.5
20 fragile x syndrome 11.5
21 atrial heart septal defect 11.5
22 specific language impairment 11.4
23 rett syndrome 11.4
24 macrocephaly/autism syndrome 11.4
25 landau-kleffner syndrome 11.4
26 autism 10 11.4
27 speech and communication disorders 11.4
28 autism x-linked 5 11.4
29 autism x-linked 6 11.4
30 autism 15 11.4
31 autism 17 11.4
32 autism 18 11.4
33 luscan-lumish syndrome 11.4
34 atypical autism 11.4
35 16p11.2 duplication 11.4
36 interatrial communication 11.3
37 mental retardation, autosomal dominant 26 11.3
38 chromosome 15q11.2 deletion syndrome 11.3
39 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.3
40 epilepsy, familial focal, with variable foci 1 11.2
41 intellectual developmental disorder with autism and speech delay 11.2
42 specific language impairment 5 11.2
43 schaaf-yang syndrome 11.2
44 syngap1-related intellectual disability 11.2
45 atrial septal defect coronary sinus 11.2
46 atrial septal defect sinus venosus 11.2
47 familial pulmonary arterial hypertension leucopenia and atrial septal defect 11.2
48 chromosome 16p11.2 deletion syndrome, 220-kb 11.0
49 autism 19 11.0
50 mental retardation, autosomal recessive 41 11.0

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



Diseases related to Autism Spectrum Disorder

Symptoms & Phenotypes for Autism Spectrum Disorder

Symptoms:

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

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 412)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxytocin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-56-6 53477758 439302
2
Acetylcholine Approved, Investigational Phase 4,Phase 1,Not Applicable 51-84-3 187
3
Donepezil Approved Phase 4,Phase 1,Phase 2 120014-06-4 3152
4
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
5
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 62-31-7, 51-61-6 681
6
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 113-45-1 4158
7
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 19982-08-2 4054
8
Guanfacine Approved, Investigational Phase 4,Not Applicable 29110-47-2 3519
9
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
10
Norepinephrine Approved Phase 4,Not Applicable 51-41-2 439260
11
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
12
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Not Applicable 616-91-1 12035
13
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
14
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 3 132539-06-1 4585
15
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 106266-06-2 5073
16
Minocycline Approved, Investigational Phase 4,Phase 1 10118-90-8 5281021
17
Valproic Acid Approved, Investigational Phase 4,Phase 2 99-66-1 3121
18
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
19
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
20
Buspirone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 36505-84-7 2477
21
Choline Approved, Nutraceutical Phase 4 62-49-7 305
22
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
23
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 73-31-4 896
24
Creatine Approved, Investigational, Nutraceutical Phase 4 57-00-1 586
25 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
26 Oxytocics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
27 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
28 Hypolipidemic Agents Phase 4,Phase 3,Not Applicable
29 Lipid Regulating Agents Phase 4,Phase 3,Not Applicable
30 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Antimetabolites Phase 4,Phase 3,Phase 2,Not Applicable
32 Nootropic Agents Phase 4,Phase 3,Phase 1,Phase 2
33 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
34 Vasodilator Agents Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
35 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
37 Antipsychotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Dopamine Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
40 Serotonin Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Serotonin 5-HT1 Receptor Agonists Phase 4,Phase 3,Phase 2
42 Serotonin 5-HT2 Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
43 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
44 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
45 Antidepressive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Dopamine agonists Phase 4,Phase 3,Phase 2
47 Serotonin Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Serotonin Receptor Agonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Dopamine D2 Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1
50 Immunoglobulins, Intravenous Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 943)
# Name Status NCT ID Phase Drugs
1 Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders Unknown status NCT02940574 Phase 4 Syntocinon (Oxytocin)
2 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
3 Study to Evaluate the Efficacy and Safety of Aripiprazole Unknown status NCT02069977 Phase 4 Aripiprazole
4 An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
5 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
6 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4 Aripiprazole
7 Omega-3 Fatty Acids in Autism Spectrum Disorders Completed NCT01695200 Phase 4
8 Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
9 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
10 Atomoxetine Versus Placebo for Symptoms of Attention-Deficit/Hyperactivity Disorder (ADHD) in Children and Adolescents With Autism Spectrum Disorder Completed NCT00380692 Phase 4 Atomoxetine;Placebo
11 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
12 Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study Completed NCT02255565 Phase 4 Very Low Dose Quillivant XR;Low Dose Quillivant XR;Moderate Dose Quillivant XR
13 Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism Completed NCT02235467 Phase 4
14 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
15 Preemie Tots: A Pilot Study to Understand the Effects of Prematurity in Toddlerhood Completed NCT01683565 Phase 4 LCPUFA oil supplement
16 A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD Completed NCT00485849 Phase 4 Atomoxetine Hydrochloride
17 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
18 An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
19 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
20 Biomarkers in Autism of Aripiprazole and Risperidone Treatment (BAART) Completed NCT01333072 Phase 4 Aripiprazole;Risperidone
21 Minocycline to Treat Childhood Regressive Autism Completed NCT00409747 Phase 4 Minocycline
22 Janssen Asperger's MRS (Magnetic Resonance Spectroscopy Risperidone Study Completed NCT00352196 Phase 4 Risperidone
23 Divalproex Sodium ER in Adult Autism Completed NCT00211796 Phase 4 Divalproex Sodium ER
24 Phase IV Long-term Maintenance Study of Aripiprazole in the Treatment of Irritability Associated With Autistic Disorder Completed NCT01227668 Phase 4 Aripiprazole;Placebo
25 A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder Completed NCT00576732 Phase 4 Placebo;Risperidone high dose;Risperidone low dose
26 A Multi-site Randomized Controlled Trial Comparing Regional and General Anesthesia for Effects on Neurodevelopmental Outcome and Apnea in Infants Completed NCT00756600 Phase 4 Regional Anesthesia;General Anesthesia
27 A Study to Evaluate the Safety and the Effects of Risperidone Compared With Other Atypical Antipsychotic Drugs on the Growth and Sexual Maturation in Children Completed NCT01050582 Phase 4 Risperidone;Other atypical antipsychotic drugs
28 Improving Driving in Young People With Autism Spectrum Disorders Recruiting NCT03538431 Phase 4 Buspirone
29 Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
30 Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes Enrolling by invitation NCT03333629 Phase 4
31 Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) Using Telepsychiatry of Complementary and Alternative Treatments Not yet recruiting NCT03757585 Phase 4 Open-label Treatment with Omega-3 Fatty Acids + Inositol;Open-label Treatment with N-Acetyl Cysteine
32 Melatonin CR for the Treatment of Impaired Sleep Maintenance in 4-8 Year Old Children With Autism Spectrum Disorders Terminated NCT01033565 Phase 4 Natrol
33 Group Psychoeducational Program for Mothers of Children With High Functional Pervasive Developmental Disorders Unknown status NCT01243905 Phase 2, Phase 3
34 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
35 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Completed NCT01972074 Phase 3 Memantine;Placebo
36 Pilot Study of Riluzole for Drug-Refractory Irritability in Autism Spectrum Disorders Completed NCT02081027 Phase 2, Phase 3 Riluzole;placebo
37 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
38 Psychotherapy for Anxiety in Children With Autism Spectrum Disorder Completed NCT02028247 Phase 3
39 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
40 Verification of the Efficacy of NPC-15 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
41 D-Cycloserine and Social Skills Training in Autism Spectrum Disorders Completed NCT01086475 Phase 3 D-cycloserine;Placebo
42 Folinic Acid in Autism Completed NCT03771560 Phase 2, Phase 3 folinic acid
43 Study of Aripiprazole in the Treatment of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
44 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
45 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
46 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3 risperidone
47 Supporting the Well Being of Families of Young Children With Autism Spectrum Disorders Completed NCT01021384 Phase 3
48 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00346736 Phase 3
49 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
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 30 PTCHD1 RPL10 SHANK2

Anatomical Context for Autism Spectrum Disorder

MalaCards organs/tissues related to Autism Spectrum Disorder:

42
Brain, Testes, Eye, Heart, Bone, Cortex, Amygdala

Publications for Autism Spectrum Disorder

Articles related to Autism Spectrum Disorder:

(show top 50) (show all 5447)
# Title Authors Year
1
The curious case of acute myocardial infarction due to paradoxical embolism in young man with ASD II. ( 31099759 )
2019
2
The Role of Alexithymia in Parent-Child Interaction and in the Emotional Ability of Children with Autism Spectrum Disorder. ( 30624024 )
2019
3
Do autism spectrum disorder and anorexia nervosa have some eating disturbances in common? ( 29974245 )
2019
4
Treating Anxiety and Social Deficits in Children with Autism Spectrum Disorder in Two Schools in Nairobi, Kenya. ( 31093801 )
2019
5
Prevalence of comorbid depressive symptoms and suicidal ideation in children with autism spectrum disorder and elevated anxiety symptoms. ( 31109252 )
2019
6
Effects of the Co-occurrence of Anxiety and Attention-Deficit/Hyperactivity Disorder on Intrinsic Functional Network Centrality among Children with Autism Spectrum Disorder. ( 31074587 )
2019
7
Validation of the social functioning scale: Comparison and evaluation in early psychosis, autism spectrum disorder and social anxiety disorder. ( 31004830 )
2019
8
Short report: Relationships between sensory processing, repetitive behaviors, anxiety, and intolerance of uncertainty in autism spectrum disorder and Williams syndrome. ( 30919599 )
2019
9
Effects of Cognitive Behavioral Therapy for Reducing Anxiety in Children with High Functioning ASD: A Systematic Review and Meta-Analysis. ( 30810842 )
2019
10
Does Peer Rejection Moderate the Associations among Cyberbullying Victimization, Depression, and Anxiety among Adolescents with Autism Spectrum Disorder? ( 30836698 )
2019
11
The Role of Sensory Features in Mediating Associations Between Autism Symptoms and Anxiety in Boys with Autism Spectrum Disorder. ( 30771129 )
2019
12
Development of the Parent-Rated Anxiety Scale for Youth with Autism Spectrum Disorder. ( 30797036 )
2019
13
The neurobiological presentation of anxiety in autism spectrum disorder: A systematic review. ( 30629807 )
2019
14
Prevalence and Predictors of Anxiety Disorders in Adolescent and Adult Males with Autism Spectrum Disorder and Fragile X Syndrome. ( 30430320 )
2019
15
A Retrospective Chart Review of Buspirone for the Treatment of Anxiety in Psychiatrically Referred Youth with High-Functioning Autism Spectrum Disorder. ( 30452283 )
2019
16
Views of Teachers on Anxiety Symptoms in Students with Autism Spectrum Disorder. ( 30220020 )
2019
17
Anxiety and depression in adults with autism spectrum disorder: a systematic review and meta-analysis. ( 30178724 )
2019
18
Examining the inclusion of diverse participants in cognitive behavior therapy research for youth with autism spectrum disorder and anxiety. ( 30160515 )
2019
19
Subtyping the Autism Spectrum Disorder: Comparison of Children with High Functioning Autism and Asperger Syndrome. ( 30043350 )
2019
20
Parental asthma and risk of autism spectrum disorder in offspring: A population and family-based case-control study. ( 30742718 )
2019
21
Case report: Atrioventricular block after transcatheter atrial septal closure using the Figulla® Flex II ASD occluder. ( 30773790 )
2019
22
Commentary on… the overlapping and distinct resting functional connectivity between autism spectrum disorder and attention-deficit hyperactivity disorder. ( 31014412 )
2019
23
Autism spectrum disorder and attention-deficit/hyperactivity disorder-related symptoms in benign childhood epilepsy with centrotemporal spikes: A prospective case-control study. ( 31026784 )
2019
24
Sleep problems in children with autism spectrum disorder: clinical correlates and the impact of attention deficit hyperactivity disorder. ( 31040675 )
2019
25
Surface-based shared and distinct resting functional connectivity in attention-deficit hyperactivity disorder and autism spectrum disorder. ( 31088591 )
2019
26
Distinct Methylphenidate-Evoked Response Measured Using Functional Near-Infrared Spectroscopy During Go/No-Go Task as a Supporting Differential Diagnostic Tool Between Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder Comorbid Children. ( 30800062 )
2019
27
Internet addiction and attention-deficit / hyperactivity disorder symptoms in adolescents with autism spectrum disorder. ( 30877993 )
2019
28
Corrigendum: Sensory Processing in Children with Autism Spectrum Disorder and/or Attention Deficit Hyperactivity Disorder in the Home and Classroom Contexts. ( 30890985 )
2019
29
Brief Report: Neuropsychological Testing and Informant-Ratings of Children with Autism Spectrum Disorder, Attention-Deficit/Hyperactivity Disorder, or Comorbid Diagnosis. ( 30927178 )
2019
30
Sleep Problem Detection and Documentation in Children With Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder by Developmental-Behavioral Pediatricians: A DBPNet Study. ( 30589766 )
2019
31
ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder. ( 30652248 )
2019
32
Social functioning in youth with attention-deficit/hyperactivity disorder and autism spectrum disorder: transdiagnostic commonalities and differences. ( 30658861 )
2019
33
Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network. ( 30718456 )
2019
34
Cross-species models of attention-deficit/hyperactivity disorder and autism spectrum disorder: lessons from CNTNAP2, ADGRL3, and PARK2. ( 30376466 )
2019
35
Later Sibling Recurrence of Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder: Clinical and Mechanistic Insights. ( 30535038 )
2019
36
Sibling Recurrence Risk and Cross-aggregation of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder. ( 30535156 )
2019
37
Delayed autism spectrum disorder recognition in children and adolescents previously diagnosed with attention-deficit/hyperactivity disorder. ( 30244604 )
2019
38
Children with Autism Spectrum Disorder May Learn from Caregiver Verb Input Better in Certain Engagement States. ( 31073750 )
2019
39
Impact of Auditory Integration Therapy (AIT) on the Plasma Levels of Human Glial Cell Line-Derived Neurotrophic Factor (GDNF) in Autism Spectrum Disorder. ( 31073917 )
2019
40
The Feasibility and Validity of Autism Spectrum Disorder Screening Instrument: Behavior Development Screening for Toddlers (BeDevel)-A Pilot Study. ( 31074589 )
2019
41
Cranio-Facial Characteristics in Children with Autism Spectrum Disorders (ASD). ( 31075935 )
2019
42
Depression in Youth with Autism Spectrum Disorder. ( 31076116 )
2019
43
Family Emotional Climate and Children with Autism Spectrum Disorder. ( 31077017 )
2019
44
Autism Spectrum Disorder: Trends in research exploring etiopathogenesis. ( 31077508 )
2019
45
Evaluation of Platelet Parameters in Children with Autism Spectrum Disorder: Elongated Collagen-Adenosine Diphosphate and Collagen-Epinephrine Closure Times. ( 31077574 )
2019
46
The association between particulate matter 2.5 exposure and children with autism spectrum disorder. ( 31078619 )
2019
47
Autonomic response in autism spectrum disorder: Relationship to social and cognitive functioning. ( 31078720 )
2019
48
Pediatric Prolonged-Release Melatonin for Sleep in Children with Autism Spectrum Disorder: Impact on Child Behavior and Caregiver's Quality of Life. ( 31079275 )
2019
49
Trajectories of Posture Development in Infants With and Without Familial Risk for Autism Spectrum Disorder. ( 31079276 )
2019
50
Emergency department utilization and monetary charges in adolescents with autism spectrum disorder, intellectual disability, and a population comparison group. ( 31081200 )
2019

Variations for Autism Spectrum Disorder

ClinVar genetic disease variations for Autism Spectrum Disorder:

6 (show top 50) (show all 783)
# Gene Variation Type Significance SNP ID Assembly Location
1 RNF135 NM_032322.3(RNF135): c.1015delG (p.Val339Serfs) deletion Pathogenic rs724159978 GRCh37 Chromosome 17, 29325925: 29325925
2 RNF135 NM_032322.3(RNF135): c.1015delG (p.Val339Serfs) deletion Pathogenic rs724159978 GRCh38 Chromosome 17, 30998907: 30998907
3 NR3C2 NM_000901.4(NR3C2): c.1609C> T (p.Arg537Ter) single nucleotide variant Pathogenic rs121912562 GRCh37 Chromosome 4, 149356404: 149356404
4 NR3C2 NM_000901.4(NR3C2): c.1609C> T (p.Arg537Ter) single nucleotide variant Pathogenic rs121912562 GRCh38 Chromosome 4, 148435252: 148435252
5 MAP2K1 NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn) single nucleotide variant Pathogenic rs727504317 GRCh37 Chromosome 15, 66727483: 66727483
6 MAP2K1 NM_002755.3(MAP2K1): c.199G> A (p.Asp67Asn) single nucleotide variant Pathogenic rs727504317 GRCh38 Chromosome 15, 66435145: 66435145
7 TSC1 NM_000368.4(TSC1): c.1079C> A (p.Thr360Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs118203493 GRCh37 Chromosome 9, 135786451: 135786451
8 TSC1 NM_000368.4(TSC1): c.1079C> A (p.Thr360Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs118203493 GRCh38 Chromosome 9, 132911064: 132911064
9 TSC2 NM_000548.3(TSC2): c.4285G> T (p.Ala1429Ser) single nucleotide variant Benign/Likely benign rs45474795 GRCh37 Chromosome 16, 2134508: 2134508
10 TSC2 NM_000548.3(TSC2): c.4285G> T (p.Ala1429Ser) single nucleotide variant Benign/Likely benign rs45474795 GRCh38 Chromosome 16, 2084507: 2084507
11 TSC1 NM_000368.4(TSC1): c.1342C> T (p.Pro448Ser) single nucleotide variant Benign/Likely benign rs118203518 GRCh37 Chromosome 9, 135782214: 135782214
12 TSC1 NM_000368.4(TSC1): c.1342C> T (p.Pro448Ser) single nucleotide variant Benign/Likely benign rs118203518 GRCh38 Chromosome 9, 132906827: 132906827
13 TSC1 NM_000368.4(TSC1): c.346T> G (p.Leu116Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199620268 GRCh37 Chromosome 9, 135800991: 135800991
14 TSC1 NM_000368.4(TSC1): c.346T> G (p.Leu116Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199620268 GRCh38 Chromosome 9, 132925604: 132925604
15 TSC2 NM_000548.4(TSC2): c.2879C> T (p.Ser960Phe) single nucleotide variant not provided rs397514898 GRCh37 Chromosome 16, 2127640: 2127640
16 TSC2 NM_000548.4(TSC2): c.2879C> T (p.Ser960Phe) single nucleotide variant not provided rs397514898 GRCh38 Chromosome 16, 2077639: 2077639
17 TSC2 NM_000548.4(TSC2): c.2183G> T (p.Cys728Phe) single nucleotide variant Uncertain significance rs397514908 GRCh37 Chromosome 16, 2122327: 2122327
18 TSC2 NM_000548.4(TSC2): c.2183G> T (p.Cys728Phe) single nucleotide variant Uncertain significance rs397514908 GRCh38 Chromosome 16, 2072326: 2072326
19 TSC2 NM_000548.4(TSC2): c.1597A> C (p.Lys533Gln) single nucleotide variant not provided rs397515038 GRCh37 Chromosome 16, 2114426: 2114426
20 TSC2 NM_000548.4(TSC2): c.1597A> C (p.Lys533Gln) single nucleotide variant not provided rs397515038 GRCh38 Chromosome 16, 2064425: 2064425
21 TSC2 NM_000548.4(TSC2): c.2632C> T (p.Pro878Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs397515077 GRCh37 Chromosome 16, 2125886: 2125886
22 TSC2 NM_000548.4(TSC2): c.2632C> T (p.Pro878Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs397515077 GRCh38 Chromosome 16, 2075885: 2075885
23 TSC2 NM_000548.4(TSC2): c.190A> G (p.Ile64Val) single nucleotide variant Uncertain significance rs397515081 GRCh37 Chromosome 16, 2100452: 2100452
24 TSC2 NM_000548.4(TSC2): c.190A> G (p.Ile64Val) single nucleotide variant Uncertain significance rs397515081 GRCh38 Chromosome 16, 2050451: 2050451
25 TSC2 NM_000548.4(TSC2): c.5072T> C (p.Met1691Thr) single nucleotide variant Uncertain significance rs397515110 GRCh37 Chromosome 16, 2138052: 2138052
26 TSC2 NM_000548.4(TSC2): c.5072T> C (p.Met1691Thr) single nucleotide variant Uncertain significance rs397515110 GRCh38 Chromosome 16, 2088051: 2088051
27 TSC2 NM_000548.4(TSC2): c.2950G> C (p.Glu984Gln) single nucleotide variant not provided rs397515156 GRCh37 Chromosome 16, 2127711: 2127711
28 TSC2 NM_000548.4(TSC2): c.2950G> C (p.Glu984Gln) single nucleotide variant not provided rs397515156 GRCh38 Chromosome 16, 2077710: 2077710
29 TSC2 NM_000548.4(TSC2): c.5155G> A (p.Ala1719Thr) single nucleotide variant Uncertain significance rs201206500 GRCh37 Chromosome 16, 2138135: 2138135
30 TSC2 NM_000548.4(TSC2): c.5155G> A (p.Ala1719Thr) single nucleotide variant Uncertain significance rs201206500 GRCh38 Chromosome 16, 2088134: 2088134
31 TSC2 NM_000548.4(TSC2): c.2861A> G (p.Lys954Arg) single nucleotide variant not provided rs397515191 GRCh37 Chromosome 16, 2127622: 2127622
32 TSC2 NM_000548.4(TSC2): c.2861A> G (p.Lys954Arg) single nucleotide variant not provided rs397515191 GRCh38 Chromosome 16, 2077621: 2077621
33 TSC2 NM_000548.4(TSC2): c.3989C> T (p.Thr1330Met) single nucleotide variant Conflicting interpretations of pathogenicity rs397515209 GRCh37 Chromosome 16, 2133801: 2133801
34 TSC2 NM_000548.4(TSC2): c.3989C> T (p.Thr1330Met) single nucleotide variant Conflicting interpretations of pathogenicity rs397515209 GRCh38 Chromosome 16, 2083800: 2083800
35 TSC2 NM_000548.4(TSC2): c.454C> G (p.His152Asp) single nucleotide variant Uncertain significance rs397515285 GRCh37 Chromosome 16, 2104414: 2104414
36 TSC2 NM_000548.4(TSC2): c.454C> G (p.His152Asp) single nucleotide variant Uncertain significance rs397515285 GRCh38 Chromosome 16, 2054413: 2054413
37 POGZ NM_015100.3(POGZ): c.1426C> T (p.Arg476Trp) single nucleotide variant Uncertain significance rs267598016 GRCh37 Chromosome 1, 151396522: 151396522
38 POGZ NM_015100.3(POGZ): c.1426C> T (p.Arg476Trp) single nucleotide variant Uncertain significance rs267598016 GRCh38 Chromosome 1, 151424046: 151424046
39 POGZ NM_015100.3(POGZ): c.1426C> T (p.Arg476Trp) single nucleotide variant Uncertain significance rs267598016 NCBI36 Chromosome 1, 149663146: 149663146
40 TPTE NM_199261.3(TPTE): c.1357-3_1357-2delTA deletion Uncertain significance rs149363218 GRCh37 Chromosome 21, 10910401: 10910402
41 TPTE NM_199261.3(TPTE): c.1357-3_1357-2delTA deletion Uncertain significance rs149363218 GRCh38 Chromosome 21, 10602055: 10602056
42 19p13.12 duplication duplication Likely pathogenic
43 MEF2C NM_002397.4(MEF2C): c.766C> T (p.Arg256Ter) single nucleotide variant Pathogenic rs796052733 GRCh38 Chromosome 5, 88731773: 88731773
44 MEF2C NM_002397.4(MEF2C): c.766C> T (p.Arg256Ter) single nucleotide variant Pathogenic rs796052733 GRCh37 Chromosome 5, 88027590: 88027590
45 TSC2 NM_000548.4(TSC2): c.1081C> G (p.Leu361Val) single nucleotide variant Likely pathogenic rs796053483 GRCh38 Chromosome 16, 2060775: 2060775
46 TSC2 NM_000548.4(TSC2): c.1081C> G (p.Leu361Val) single nucleotide variant Likely pathogenic rs796053483 GRCh37 Chromosome 16, 2110776: 2110776
47 SHANK3 NM_033517.1(SHANK3): c.3679dupG (p.Ala1227Glyfs) duplication Pathogenic rs762292772 GRCh37 Chromosome 22, 51159940: 51159940
48 SHANK3 NM_033517.1(SHANK3): c.3679dupG (p.Ala1227Glyfs) duplication Pathogenic rs762292772 GRCh38 Chromosome 22, 50721512: 50721512
49 ANKRD11 NM_001256182.1(ANKRD11): c.6323G> A (p.Gly2108Asp) single nucleotide variant Likely benign rs201509886 GRCh37 Chromosome 16, 89346627: 89346627
50 ANKRD11 NM_001256182.1(ANKRD11): c.6323G> A (p.Gly2108Asp) single nucleotide variant Likely benign rs201509886 GRCh38 Chromosome 16, 89280219: 89280219

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 11.5 MAP2K1 MIR128-1 MIR15A MIR15B MIR181D
2 11.49 MAP2K1 MEF2C TSC2
3 10.71 MEF2C MIR128-1 MIR181D

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 9.16 SHANK2 SHANK3
2 micro-ribonucleoprotein complex GO:0035068 9.1 MIR128-1 MIR132 MIR140 MIR15A MIR15B MIR598
3 neuron spine GO:0044309 8.96 SHANK2 SHANK3

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 social behavior GO:0035176 9.65 PTCHD1 SHANK2 SHANK3
2 positive regulation of excitatory postsynaptic potential GO:2000463 9.58 SHANK2 SHANK3
3 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.58 MIR15A MIR15B
4 negative regulation of blood vessel endothelial cell migration GO:0043537 9.58 MEF2C MIR132 MIR15B
5 positive regulation of dendritic spine development GO:0060999 9.57 SHANK2 SHANK3
6 positive regulation of endothelial cell apoptotic process GO:2000353 9.56 MIR132 MIR15A
7 brain morphogenesis GO:0048854 9.55 SHANK2 SHANK3
8 dendritic spine morphogenesis GO:0060997 9.54 SHANK2 SHANK3
9 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.54 MEF2C MIR140 MIR15A
10 long-term synaptic depression GO:0060292 9.52 SHANK2 SHANK3
11 exploration behavior GO:0035640 9.51 SHANK2 SHANK3
12 negative regulation of vascular endothelial cell proliferation GO:1905563 9.5 MEF2C MIR132 MIR15B
13 vocalization behavior GO:0071625 9.49 SHANK2 SHANK3
14 synaptic growth at neuromuscular junction GO:0051124 9.46 SHANK2 SHANK3
15 postsynaptic density assembly GO:0097107 9.43 SHANK2 SHANK3
16 regulation of AMPA receptor activity GO:2000311 9.43 MEF2C SHANK2 SHANK3
17 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.33 MEF2C MIR140 MIR15A
18 miRNA mediated inhibition of translation GO:0035278 9.26 MIR132 MIR15A MIR15B MIR181D
19 gene silencing by miRNA GO:0035195 9.17 MIR128-1 MIR132 MIR140 MIR15A MIR15B MIR181D

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

# Name GO ID Score Top Affiliating Genes
1 receptor signaling complex scaffold activity GO:0030159 9.16 SHANK2 SHANK3
2 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.1 MIR128-1 MIR132 MIR140 MIR15A MIR15B MIR181D
3 GKAP/Homer scaffold activity GO:0030160 8.96 SHANK2 SHANK3

Sources for Autism Spectrum Disorder

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