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MCID: ATS364
MIFTS: 68

Autism

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Autism

About this section

MalaCards integrated aliases for Autism:

Name: Autism 58 12 77 38 6 15 39 41 17 3
Autistic Disorder 58 39 12 45 15 74
Autistic Disorder of Childhood Onset 12 30 6
Autism Susceptibility 1 58
Kanner's Syndrome 12
Childhood Autism 12
Infantile Autism 12
Autistic 56

Characteristics:

OMIM:

58
Inheritance:
isolated cases
multifactorial

Miscellaneous:
onset by 3 years of age
male to female ratio 4:1
occurs in 2-5 per 10,000 individuals
genetic heterogeneity (see, e.g., )
associated with tuberous sclerosis
associated with untreated phenylketonuria
associated with fragile x syndrome


HPO:

33
autism:
Onset and clinical course childhood onset
Inheritance heterogeneous sporadic multifactorial inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Mental diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 34


Sources

Summaries for Autism

About this section
OMIM : 58 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. (209850)

MalaCards based summary : Autism, also known as autistic disorder, is related to autism spectrum disorder and pervasive developmental disorder. An important gene associated with Autism is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and Glutamatergic synapse. The drugs Acetylcholine and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, brain and testes, and related phenotypes are seizures and eeg abnormality

Disease Ontology : 12 An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.

Wikipedia : 77 Autism is a developmental disorder characterized by difficulties with social interaction and... more...

Sources

Related Diseases for Autism

About this section

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 690)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 35.0 AUTS2 MBD5 NLGN3 NLGN4X PTEN SCN2A
2 pervasive developmental disorder 33.4 AUTS2 CDKL5 NLGN3 NLGN4X
3 atypical autism 12.5
4 macrocephaly/autism syndrome 12.5
5 mental retardation with language impairment and with or without autistic features 12.5
6 autism 6 12.4
7 autism 3 12.4
8 autism 16 12.4
9 autism x-linked 1 12.4
10 autism x-linked 3 12.4
11 autism 15 12.4
12 autism 17 12.4
13 autism x-linked 5 12.4
14 autism 18 12.4
15 autism x-linked 4 12.4
16 autism x-linked 2 12.4
17 autism x-linked 6 12.4
18 autism 8 12.3
19 autism 7 12.3
20 autism 11 12.3
21 autism 12 12.3
22 autism 13 12.3
23 autism 9 12.3
24 autism 10 12.3
25 autism 19 12.3
26 intellectual developmental disorder with autism and speech delay 12.3
27 adnp-related intellectual disability and autism spectrum disorder 12.1
28 rett syndrome 11.9
29 autism with port-wine stain 11.9
30 autism-facial port-wine stain syndrome 11.9
31 intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome 11.9
32 adnp syndrome 11.9
33 16p11.2 duplication 11.8
34 mental retardation, autosomal dominant 26 11.7
35 asperger syndrome 11.7
36 intellectual disability-severe speech delay-mild dysmorphism syndrome 11.6
37 chromosome 15q11-q13 duplication syndrome 11.6
38 branched-chain keto acid dehydrogenase kinase deficiency 11.6
39 childhood disintegrative disease 11.5
40 arthrogryposis, mental retardation, and seizures 11.5
41 helsmoortel-van der aa syndrome 11.5
42 16p11.2 deletion syndrome 11.5
43 syngap1-related non-syndromic intellectual disability 11.5
44 fragile x syndrome 11.4
45 timothy syndrome 11.4
46 chromosome 15q13.3 deletion syndrome 11.3
47 dysphasia, familial developmental 11.3
48 specific language impairment 11.3
49 adenylosuccinase deficiency 11.3
50 asperger syndrome, x-linked 1 11.2

Graphical network of the top 20 diseases related to Autism:



Diseases related to Autism
Sources

Symptoms & Phenotypes for Autism

About this section

Human phenotypes related to Autism:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 seizures 33 frequent (33%) HP:0001250
2 eeg abnormality 33 frequent (33%) HP:0002353
3 increased serum serotonin 33 frequent (33%) HP:0003144
4 intellectual disability 33 HP:0001249
5 delayed speech and language development 33 HP:0000750
6 stereotypy 33 HP:0000733
7 autism 33 HP:0000717
8 impaired use of nonverbal behaviors 33 HP:0000758
9 restrictive behavior 33 HP:0000723
10 impaired ability to form peer relationships 33 HP:0000728
11 lack of spontaneous play 33 HP:0000721
12 inflexible adherence to routines or rituals 33 HP:0000732

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
impaired social interactions
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
impaired ability to form peer relationships
impaired language development
lack of spontaneous play
more
Laboratory Abnormalities:
increased serum serotonin in 25%

Neurologic Central Nervous System:
mental retardation in 75%
seizures in 15-30%
eeg abnormalities in 20-50%

Clinical features from OMIM:

209850
Sources

Drugs & Therapeutics for Autism

About this section

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

(show top 50) (show all 433)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4,Phase 1,Not Applicable 51-84-3 187
2
Donepezil Approved Phase 4,Phase 1,Phase 2 120014-06-4 3152
3
Oxytocin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-56-6 439302 53477758
4
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 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
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
7
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2 99-66-1 3121
8
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 113-45-1 4158
9
Risperidone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 106266-06-2 5073
10
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 19982-08-2 4054
11
Minocycline Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 10118-90-8 5281021
12
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
13
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
14
Norepinephrine Approved Phase 4,Not Applicable 51-41-2 439260
15
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Not Applicable 616-91-1 12035
16
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
17
Guanfacine Approved, Investigational Phase 4,Not Applicable 29110-47-2 3519
18
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3 1744-22-5 5070
19
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 3 132539-06-1 4585
20
Buspirone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 36505-84-7 2477
21
Ziprasidone Approved Phase 4,Phase 2 146939-27-7 60854
22
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
23
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
24
Choline Approved, Nutraceutical Phase 4 62-49-7 305
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-30-3 6037
26
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 73-31-4 896
27
Creatine Approved, Investigational, Nutraceutical Phase 4,Not Applicable 57-00-1 586
28 Vasodilator Agents Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
29 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
30 Cholinergic Agents Phase 4,Phase 3,Phase 1,Phase 2
31 Hypolipidemic Agents Phase 4,Phase 2,Not Applicable
32 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
33 Nootropic Agents Phase 4,Phase 3,Phase 1,Phase 2
34 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
35 Lipid Regulating Agents Phase 4,Phase 2,Not Applicable
36 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1
38 Oxytocics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
39 Immunoglobulins Phase 4,Phase 2
40 Rho(D) Immune Globulin Phase 4,Phase 2
41 Immunoglobulins, Intravenous Phase 4,Phase 2
42 gamma-Globulins Phase 4,Phase 2
43 Antibodies Phase 4,Phase 2
44 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
45 Antipsychotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Serotonin 5-HT2 Receptor Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Dopamine Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
49 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
50 Serotonin Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 1087)
# Name Status NCT ID Phase Drugs
1 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
2 Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders Unknown status NCT02940574 Phase 4 Syntocinon (Oxytocin)
3 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%
4 Study to Evaluate the Efficacy and Safety of Aripiprazole Unknown status NCT02069977 Phase 4 Aripiprazole
5 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) Unknown status NCT00393614 Phase 4 levetiracetam
6 Biomarkers in Autism of Aripiprazole and Risperidone Treatment (BAART) Completed NCT01333072 Phase 4 Aripiprazole;Risperidone
7 Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism Completed NCT02235467 Phase 4
8 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
9 Divalproex Sodium ER in Adult Autism Completed NCT00211796 Phase 4 Divalproex Sodium ER
10 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
11 Omega-3 Fatty Acids in Autism Spectrum Disorders Completed NCT01695200 Phase 4
12 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4 Aripiprazole
13 Minocycline to Treat Childhood Regressive Autism Completed NCT00409747 Phase 4 Minocycline
14 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
15 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
16 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
17 Phase IV Long-term Maintenance Study of Aripiprazole in the Treatment of Irritability Associated With Autistic Disorder Completed NCT01227668 Phase 4 Aripiprazole;Placebo
18 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
19 Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
20 Preemie Tots: A Pilot Study to Understand the Effects of Prematurity in Toddlerhood Completed NCT01683565 Phase 4 LCPUFA oil supplement
21 A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD Completed NCT00485849 Phase 4 Atomoxetine Hydrochloride
22 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
23 Methylphenidate Study in Young Children With Developmental Disorders Completed NCT00517504 Phase 4 Methylphenidate
24 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
25 An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
26 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
27 Janssen Asperger's MRS (Magnetic Resonance Spectroscopy Risperidone Study Completed NCT00352196 Phase 4 Risperidone
28 A Study to Evaluate the Safety of HIN1 Monovalent Vaccine (MEDI3414) in Children 2 to 17 Years of Age Completed NCT00946101 Phase 4
29 A Study to Evaluate the Safety of H1N1 Monovalent Vaccine (MEDI3414) in Healthy Adults Completed NCT00945893 Phase 4
30 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
31 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
32 Improving Driving in Young People With Autism Spectrum Disorders Recruiting NCT03538431 Phase 4 Buspirone
33 Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
34 A Multi-site Randomized Controlled Trial Comparing Regional and General Anesthesia for Effects on Neurodevelopmental Outcome and Apnea in Infants Active, not recruiting NCT00756600 Phase 4 Regional Anesthesia;General Anesthesia
35 Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes Enrolling by invitation NCT03333629 Phase 4
36 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
37 Melatonin CR for the Treatment of Impaired Sleep Maintenance in 4-8 Year Old Children With Autism Spectrum Disorders Terminated NCT01033565 Phase 4 Natrol
38 1/2-MC4R Genotype and Pediatric Antipsychotic Drug- Induced Weight Gain Terminated NCT01844700 Phase 4 Ziprasidone;aripiprazole, quetiapine, or risperidone
39 Valproate Response in Aggressive Autistic Adolescents Unknown status NCT00065884 Phase 3 Valproate
40 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
41 Verification of the Efficacy of NPC-15 for Sleep Disorders of Children With Autism Spectrum Disorders Unknown status NCT02757066 Phase 2, Phase 3 NPC-15 Granules Lower Dose;NPC-15 Granules Higher Dose;NPC-15 Placebo Granule
42 Self-Injury: Diagnosis and Treatment Unknown status NCT00065936 Phase 3 Naltrexone hydrochloride
43 Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Unknown status NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo
44 Group Psychoeducational Program for Mothers of Children With High Functional Pervasive Developmental Disorders Unknown status NCT01243905 Phase 2, Phase 3
45 A Trial of CM-AT in Children With Autism- Open Label Extension Study Completed NCT00912691 Phase 3 CM-AT
46 Parent-delivered Massage for Children With Autism Completed NCT01801696 Phase 2, Phase 3
47 A Trial of CM-AT in Children With Autism Completed NCT00881452 Phase 3 CM-AT;Placebo
48 A Trial of CM-AT in Children With Autism With All Levels of FCT (The Blum Study) Completed NCT02410902 Phase 3 CM-AT;PLACEBO
49 Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism Completed NCT00498173 Phase 3 Atomoxetine;Placebo
50 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3 Galantamine

Search NIH Clinical Center for Autism

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Autism cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Autism:
NU211-01/NC215-01, human umbilical cord mesenchymal stem cells for autism
Embryonic/Adult Cultured Cells Related to Autism:
Umbilical cord-derived mesenchymal stem cells
Umbilical cord blood-derived mononuclear cells

Cochrane evidence based reviews: autistic disorder

Sources

Genetic Tests for Autism

About this section

Genetic tests related to Autism:

# Genetic test Affiliating Genes
1 Autistic Disorder of Childhood Onset 30 SNRPN
Sources

Anatomical Context for Autism

About this section

MalaCards organs/tissues related to Autism:

42
Brain, Testes, Eye, Cortex, Bone, Amygdala, Cerebellum
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Autism:
# Tissue Anatomical CompartmentCell Relevance
1 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
Sources

Publications for Autism

About this section

Articles related to Autism:

(show top 50) (show all 9620)
# Title Authors Year
1
Investigating alexithymia in autism: A systematic review and meta-analysis. ( 30399531 )
2019
2
The role of alexithymia in parent-child interaction and in the emotional ability of children with autism spectrum disorder. ( 30624024 )
2019
3
Does Peer Rejection Moderate the Associations among Cyberbullying Victimization, Depression, and Anxiety among Adolescents with Autism Spectrum Disorder? ( 30836698 )
2019
4
Development of the Parent-Rated Anxiety Scale for Youth with Autism Spectrum Disorder. ( 30797036 )
2019
5
The Relationship Between Child Anxiety and the Quality of Life of Children, and Parents of Children, on the Autism Spectrum. ( 30805767 )
2019
6
The Role of Sensory Features in Mediating Associations Between Autism Symptoms and Anxiety in Boys with Autism Spectrum Disorder. ( 30771129 )
2019
7
Teacher responses to anxiety-related behaviours in students on the autism spectrum. ( 30622014 )
2019
8
The neurobiological presentation of anxiety in autism spectrum disorder: A systematic review. ( 30629807 )
2019
9
A Retrospective Chart Review of Buspirone for the Treatment of Anxiety in Psychiatrically Referred Youth with High-Functioning Autism Spectrum Disorder. ( 30452283 )
2019
10
Open Trial of Modular Cognitive-Behavioral Therapy in the Treatment of Anxiety Among Late Adolescents with Autism Spectrum Disorder. ( 29855820 )
2019
11
Parental asthma and risk of autism spectrum disorder in offspring: a population and family based case-control study. ( 30742718 )
2019
12
Functional Connectivity of Frontoparietal and Salience/Ventral Attention Networks Have Independent Associations With Co-occurring Attention-Deficit/Hyperactivity Disorder Symptoms in Children With Autism. ( 30777604 )
2019
13
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
14
Internet addiction and attention-deficit / hyperactivity disorder symptoms in adolescents with autism spectrum disorder. ( 30877993 )
2019
15
The role of marine omega-3 in human neurodevelopment, including Autism Spectrum Disorders and Attention-Deficit/Hyperactivity Disorder - a review. ( 30880398 )
2019
16
Corrigendum: Sensory Processing in Children with Autism Spectrum Disorder and/or Attention Deficit Hyperactivity Disorder in the Home and Classroom Contexts. ( 30890985 )
2019
17
ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder. ( 30652248 )
2019
18
Atomoxetine for attention deficit hyperactivity disorder in children and adolescents with autism: A systematic review and meta-analysis. ( 30653855 )
2019
19
Social functioning in youth with attention-deficit/hyperactivity disorder and autism spectrum disorder: transdiagnostic commonalities and differences. ( 30658861 )
2019
20
Structural neuroimaging correlates of social deficits are similar in autism spectrum disorder and attention-deficit/hyperactivity disorder: analysis from the POND Network. ( 30718456 )
2019
21
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
22
Overlaps and distinctions between attention deficit/hyperactivity disorder and autism spectrum disorder in young adulthood: Systematic review and guiding framework for EEG-imaging research. ( 30367918 )
2019
23
Beneficial Effects of GLP-1 Agonist in a Male With Compulsive Food-Related Behavior Associated With Autism. ( 30881319 )
2019
24
Newborn vitamin D levels in relation to autism spectrum disorders and intellectual disability: A case-control study in california. ( 30883046 )
2019
25
A comparison of stimulus set size on tact training for children with autism spectrum disorder. ( 30883736 )
2019
26
Changing Conceptualizations of Regression: What Prospective Studies Reveal About the Onset of Autism Spectrum Disorder. ( 30885812 )
2019
27
Coalitional Game Theory Facilitates Identification of Non-Coding Variants Associated With Autism. ( 30886520 )
2019
28
Conceptualizing bullying in children with autism spectrum disorder: Using a mixed model to differentiate behavior types and identify predictors. ( 30887817 )
2019
29
Clinical Validation of the Autism Behavior Inventory: Caregiver-Rated Assessment of Core and Associated Symptoms of Autism Spectrum Disorder. ( 30888551 )
2019
30
Brief Report: Behavior Disorders and Social Skills in Adolescents with Autism Spectrum Disorder: Does IQ Matter? ( 30888552 )
2019
31
Non-speech and Speech Pitch Perception among Cantonese-speaking Children with Autism Spectrum Disorder: an ERP Study. ( 30890474 )
2019
32
Power spectrum of spontaneous cerebral homodynamic oscillation shows a distinct pattern in autism spectrum disorder. ( 30891353 )
2019
33
Do Children with Autism Spectrum Disorder Understand Their Academic Competencies? ( 30891664 )
2019
34
Birth seasonality and risk of autism spectrum disorder. ( 30891686 )
2019
35
Risk factors underlying depressive symptoms among parents/primary care providers of kids with autism spectrum disorder: A study from Muscat, Oman. ( 30891771 )
2019
36
The Use of Eye Tracking as a Biomarker of Treatment Outcome in a Pilot Randomized Clinical Trial for Young Children with Autism. ( 30891960 )
2019
37
Meeting the 24-hr movement guidelines: An update on US youth with autism spectrum disorder from the 2016 National Survey of Children's Health. ( 30892834 )
2019
38
Assessment of racial and ethnic bias in autism spectrum disorder prevalence estimates from a US surveillance system. ( 30892923 )
2019
39
Needs, strain, coping, and mental health among caregivers of individuals with autism spectrum disorder: A moderated mediation analysis. ( 30892929 )
2019
40
Concordance between a U.S. Educational Autism Classification and the Autism Diagnostic Observation Schedule. ( 30892948 )
2019
41
Sensory sensitivity in autism mostly depends on contextual predictions. ( 30894074 )
2019
42
Prenatal and infant exposure to ambient pesticides and autism spectrum disorder in children: population based case-control study. ( 30894343 )
2019
43
Pesticides and autism. ( 30894346 )
2019
44
Effects of Mindfulness-Based Positive Behavior Support (MBPBS) Training Are Equally Beneficial for Mothers and Their Children With Autism Spectrum Disorder or With Intellectual Disabilities. ( 30894823 )
2019
45
Altered Gut Microbiota in Chinese Children With Autism Spectrum Disorders. ( 30895172 )
2019
46
Parent Preferences for Health Outcomes Associated with Autism Spectrum Disorders. ( 30895565 )
2019
47
Explaining hyper-sensitivity and hypo-responsivity in autism with a common predictive coding-based mechanism. ( 30895875 )
2019
48
Assessing a Hyperarousal Hypothesis of Insomnia in Adults with Autism Spectrum Disorder. ( 30896090 )
2019
49
A Synaptic Perspective of Fragile X Syndrome and Autism Spectrum Disorders. ( 30897358 )
2019
50
Molecular Mechanisms of Synaptic Dysregulation in Fragile X Syndrome and Autism Spectrum Disorders. ( 30899214 )
2019
Sources

Variations for Autism

About this section

ClinVar genetic disease variations for Autism:

6 (show top 50) (show all 234)
# Gene Variation Type Significance SNP ID Assembly Location
1 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh37 Chromosome 5, 176662864: 176662864
2 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh38 Chromosome 5, 177235863: 177235863
3 LAMB3 NM_000228.2(LAMB3): c.133T> G (p.Ser45Ala) single nucleotide variant Uncertain significance rs796051883 GRCh38 Chromosome 1, 209650014: 209650014
4 LAMB3 NM_000228.2(LAMB3): c.133T> G (p.Ser45Ala) single nucleotide variant Uncertain significance rs796051883 GRCh37 Chromosome 1, 209823359: 209823359
5 MYBBP1A NM_001105538.1(MYBBP1A): c.139C> T (p.Gln47Ter) single nucleotide variant Uncertain significance rs758083465 GRCh37 Chromosome 17, 4458481: 4458481
6 MYBBP1A NM_001105538.1(MYBBP1A): c.139C> T (p.Gln47Ter) single nucleotide variant Uncertain significance rs758083465 GRCh38 Chromosome 17, 4555186: 4555186
7 NC_000016.10: g.19934233_19956257del22025 deletion Uncertain significance GRCh38 Chromosome 16, 19934233: 19956257
8 NC_000016.10: g.19934233_19956257del22025 deletion Uncertain significance GRCh37 Chromosome 16, 19945555: 19967579
9 ALG1L2 NC_000003.12: g.130044540_130087902del43363 deletion Uncertain significance GRCh38 Chromosome 3, 130044540: 130087902
10 ALG1L2 NC_000003.12: g.130044540_130087902del43363 deletion Uncertain significance GRCh37 Chromosome 3, 129763384: 129806746
11 NC_000004.12: g.4106749_4157518del50770 deletion Uncertain significance GRCh38 Chromosome 4, 4106749: 4157518
12 NC_000004.12: g.4106749_4157518del50770 deletion Uncertain significance GRCh37 Chromosome 4, 4108478: 4159247
13 POLG NM_002693.2(POLG): c.678G> C (p.Gln226His) single nucleotide variant Conflicting interpretations of pathogenicity rs147282197 GRCh38 Chromosome 15, 89330258: 89330258
14 POLG NM_002693.2(POLG): c.678G> C (p.Gln226His) single nucleotide variant Conflicting interpretations of pathogenicity rs147282197 GRCh37 Chromosome 15, 89873489: 89873489
15 SHANK2 NM_133266.4(SHANK2): c.689G> A (p.Arg230His) single nucleotide variant Conflicting interpretations of pathogenicity rs117843717 GRCh38 Chromosome 11, 70490374: 70490374
16 SHANK2 NM_133266.4(SHANK2): c.689G> A (p.Arg230His) single nucleotide variant Conflicting interpretations of pathogenicity rs117843717 GRCh37 Chromosome 11, 70336479: 70336479
17 NR4A2 NM_006186.3(NR4A2): c.357G> T (p.Ser119=) single nucleotide variant Benign rs797046133 GRCh37 Chromosome 2, 157186342: 157186342
18 NR4A2 NM_006186.3(NR4A2): c.357G> T (p.Ser119=) single nucleotide variant Benign rs797046133 GRCh38 Chromosome 2, 156329830: 156329830
19 ALDH1A3 NM_000693.3(ALDH1A3): c.1514T> C (p.Ile505Thr) single nucleotide variant Likely pathogenic rs797046134 GRCh37 Chromosome 15, 101454953: 101454953
20 ALDH1A3 NM_000693.3(ALDH1A3): c.1514T> C (p.Ile505Thr) single nucleotide variant Likely pathogenic rs797046134 GRCh38 Chromosome 15, 100914748: 100914748
21 GAS8-AS1 NR_122031.1(GAS8-AS1): n.692_693insCTGCGGGGCAGC insertion Likely benign rs1555648296 GRCh37 Chromosome 16, 90095617: 90095618
22 GAS8-AS1 NR_122031.1(GAS8-AS1): n.692_693insCTGCGGGGCAGC insertion Likely benign rs1555648296 GRCh38 Chromosome 16, 90029209: 90029210
23 FOXN1 NM_003593.2(FOXN1): c.146C> T (p.Ser49Leu) single nucleotide variant Likely pathogenic rs797046135 GRCh37 Chromosome 17, 26851543: 26851543
24 FOXN1 NM_003593.2(FOXN1): c.146C> T (p.Ser49Leu) single nucleotide variant Likely pathogenic rs797046135 GRCh38 Chromosome 17, 28524525: 28524525
25 UBE3A NM_000462.3(UBE3A): c.1432A> G (p.Met478Val) single nucleotide variant Uncertain significance rs864309507 GRCh38 Chromosome 15, 25370751: 25370751
26 UBE3A NM_000462.3(UBE3A): c.1432A> G (p.Met478Val) single nucleotide variant Uncertain significance rs864309507 GRCh37 Chromosome 15, 25615898: 25615898
27 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh37 Chromosome 1, 97915614: 97915614
28 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 GRCh38 Chromosome 1, 97450058: 97450058
29 DPYD NM_000110.3(DPYD): c.1905+1G> A single nucleotide variant drug response rs3918290 NCBI36 Chromosome 1, 97688202: 97688202
30 CAMK2G NM_172171.2(CAMK2G): c.875G> C (p.Arg292Pro) single nucleotide variant Likely pathogenic rs397514627 GRCh37 Chromosome 10, 75602244: 75602244
31 CAMK2G NM_172171.2(CAMK2G): c.875G> C (p.Arg292Pro) single nucleotide variant Likely pathogenic rs397514627 GRCh38 Chromosome 10, 73842486: 73842486
32 SCN1A NM_006920.4(SCN1A): c.1625G> A (p.Arg542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121918817 GRCh37 Chromosome 2, 166901590: 166901590
33 SCN1A NM_006920.4(SCN1A): c.1625G> A (p.Arg542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121918817 GRCh38 Chromosome 2, 166045080: 166045080
34 SCN1A NM_006920.4(SCN1A): c.3068T> C (p.Ile1023Thr) single nucleotide variant Likely benign rs121918818 GRCh37 Chromosome 2, 166892886: 166892886
35 SCN1A NM_006920.4(SCN1A): c.3068T> C (p.Ile1023Thr) single nucleotide variant Likely benign rs121918818 GRCh38 Chromosome 2, 166036376: 166036376
36 ANK3 NM_020987.4(ANK3): c.4705T> G (p.Ser1569Ala) single nucleotide variant Uncertain significance rs375050420 GRCh37 Chromosome 10, 61835934: 61835934
37 ANK3 NM_020987.4(ANK3): c.4705T> G (p.Ser1569Ala) single nucleotide variant Uncertain significance rs375050420 GRCh38 Chromosome 10, 60076176: 60076176
38 AMPD1 NM_000036.2(AMPD1): c.1449C> G (p.Cys483Trp) single nucleotide variant Uncertain significance rs587779369 GRCh37 Chromosome 1, 115220010: 115220010
39 AMPD1 NM_000036.2(AMPD1): c.1449C> G (p.Cys483Trp) single nucleotide variant Uncertain significance rs587779369 GRCh38 Chromosome 1, 114677389: 114677389
40 AMPD1 NM_000036.2(AMPD1): c.1498C> T (p.Arg500Cys) single nucleotide variant Uncertain significance rs587779370 GRCh37 Chromosome 1, 115218614: 115218614
41 AMPD1 NM_000036.2(AMPD1): c.1498C> T (p.Arg500Cys) single nucleotide variant Uncertain significance rs587779370 GRCh38 Chromosome 1, 114675993: 114675993
42 AMPD1 NM_000036.2(AMPD1): c.1569C> T (p.Thr523=) single nucleotide variant Likely benign rs587779371 GRCh37 Chromosome 1, 115218543: 115218543
43 AMPD1 NM_000036.2(AMPD1): c.1569C> T (p.Thr523=) single nucleotide variant Likely benign rs587779371 GRCh38 Chromosome 1, 114675922: 114675922
44 AMPD1 NM_000036.2(AMPD1): c.1714C> T (p.Pro572Ser) single nucleotide variant Uncertain significance rs587779372 GRCh37 Chromosome 1, 115218215: 115218215
45 AMPD1 NM_000036.2(AMPD1): c.1714C> T (p.Pro572Ser) single nucleotide variant Uncertain significance rs587779372 GRCh38 Chromosome 1, 114675594: 114675594
46 AMPD1 NM_000036.2(AMPD1): c.1877C> G (p.Ser626Cys) single nucleotide variant Uncertain significance rs587779373 GRCh37 Chromosome 1, 115217395: 115217395
47 AMPD1 NM_000036.2(AMPD1): c.1877C> G (p.Ser626Cys) single nucleotide variant Uncertain significance rs587779373 GRCh38 Chromosome 1, 114674774: 114674774
48 AMPD1 NM_000036.2(AMPD1): c.2042C> T (p.Thr681Ile) single nucleotide variant Uncertain significance rs587779374 GRCh37 Chromosome 1, 115216561: 115216561
49 AMPD1 NM_000036.2(AMPD1): c.2042C> T (p.Thr681Ile) single nucleotide variant Uncertain significance rs587779374 GRCh38 Chromosome 1, 114673940: 114673940
50 AMPD1 NM_000036.2(AMPD1): c.31C> G (p.Gln11Glu) single nucleotide variant Uncertain significance rs587779375 GRCh37 Chromosome 1, 115238161: 115238161

Copy number variations for Autism from CNVD:

7 (show top 50) (show all 2458)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13764 1 1 28000000 Loss Autism
2 13902 1 10075582 11158005 Loss Autism
3 14098 1 103956056 104113271 Copy number Autism
4 14424 1 108105015 108110680 Gain VAV3 Autism
5 14687 1 109988334 109993086 Deletion or duplication Autism
6 14934 1 111291266 111291409 Loss C1orf103 Autism
7 15234 1 113734887 113735415 Loss MAGI3 Autism
8 15682 1 1180538 1207334 Copy number SDF4 Autism
9 15693 1 118296377 118296518 Gain WDR3 Autism
10 15989 1 1207568 1210341 Copy number B3GALT6 Autism
11 16771 1 1370430 1429557 Loss ATAD3B Autism
12 17284 1 142400000 148000000 Deletion Autism
13 17305 1 142400000 148000000 Duplication Autism
14 17328 1 142400000 148000000 Microdeletions and microduplications Autism
15 17370 1 142600000 147000000 Copy number Autism
16 17384 1 142600000 147000000 Deletion or duplication Autism
17 17385 1 142600000 147000000 Deletion or duplication Autism
18 18034 1 143650000 145000000 Loss Autism
19 18128 1 144124744 144396898 Loss Autism
20 18204 1 144337336 144456849 Gain Autism
21 18273 1 144838594 146308287 Gain BCL9 Autism
22 18300 1 144943150 145824905 Duplication ACP6 Autism
23 18301 1 144943150 145824905 Duplication BCL9 Autism
24 18302 1 144943150 145824905 Duplication CHD1L Autism
25 18303 1 144943150 145824905 Duplication FMO5 Autism
26 18304 1 144943150 145824905 Duplication GJA5 Autism
27 18305 1 144943150 145824905 Duplication PRKAB2 Autism
28 18318 1 144970329 145863421 Duplication Autism
29 18333 1 145013719 146293282 Loss Autism
30 18374 1 145119362 145761156 Gain Autism
31 18390 1 145303997 145357746 Deletion Autism
32 18391 1 145303997 145357746 Homozyg deletion Autism
33 19042 1 148307246 148307430 Gain VPS45 Autism
34 19443 1 150322696 150327314 Copy number S100A5 Autism
35 19590 1 150822223 150852849 Loss LCE3B Autism
36 19591 1 150822223 150852849 Loss LCE3C Autism
37 19764 1 151240762 151240937 Loss SPRR3 Autism
38 19944 1 152055312 152055457 Loss GATAD2B Autism
39 21488 1 1590917 1590971 Gain CDC2L1 Autism
40 22564 1 167493526 167507362 Loss NME7 Autism
41 23029 1 170820885 170824528 Gain C1orf9 Autism
42 23630 1 172142024 172310899 Gain RC3H1 Autism
43 23754 1 173697478 174026214 Gain TNR Autism
44 24014 1 174300000 178600000 Duplication PAPPA2 Autism
45 24015 1 174300000 178600000 Duplication RFWD2 Autism
46 24028 1 174500555 174543675 Duplication PAPPA2 Autism
47 24029 1 174500555 174543675 Duplication RFWD2 Autism
48 24297 1 178294383 178599040 Loss Autism
49 24421 1 180110206 180266346 Loss Autism
50 24441 1 180626647 180627201 Loss GLUL Autism
Sources

Expression for Autism

About this section
Search GEO for disease gene expression data for Autism.
Sources

Pathways for Autism

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Pathways related to Autism according to KEGG:

38
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514
2 Glutamatergic synapse hsa04724
3 Wnt signaling pathway hsa04310
4 mTOR signaling pathway hsa04150
Sources

GO Terms for Autism

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

# Name GO ID Score Top Affiliating Genes
1 synapse GO:0045202 9.72 CDKL5 CHRNA1 NLGN3 NLGN4X PRR12
2 postsynaptic membrane GO:0045211 9.56 CHRNA1 NLGN4X PRR12 PTEN
3 excitatory synapse GO:0060076 9.37 NLGN3 NLGN4X
4 spanning component of membrane GO:0089717 9.16 NLGN3 NLGN4X
5 asymmetric, glutamatergic, excitatory synapse GO:0098985 8.96 NLGN3 NLGN4X
6 symmetric, GABA-ergic, inhibitory synapse GO:0098983 8.62 NLGN3 NLGN4X

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 synaptic vesicle endocytosis GO:0048488 9.54 NLGN3 NLGN4X
2 social behavior GO:0035176 9.54 NLGN3 NLGN4X PTEN
3 neuronal action potential GO:0019228 9.52 CHRNA1 SCN2A
4 positive regulation of excitatory postsynaptic potential GO:2000463 9.51 NLGN3 PTEN
5 axon extension GO:0048675 9.49 AUTS2 NLGN3
6 neuron cell-cell adhesion GO:0007158 9.48 NLGN3 NLGN4X
7 presynapse assembly GO:0099054 9.46 NLGN3 NLGN4X
8 vocalization behavior GO:0071625 9.43 NLGN3 NLGN4X
9 postsynaptic membrane assembly GO:0097104 9.4 NLGN3 NLGN4X
10 adult behavior GO:0030534 9.33 NLGN3 NLGN4X PTEN
11 negative regulation of dendritic spine morphogenesis GO:0061002 9.32 NLGN3 PTEN
12 rhythmic synaptic transmission GO:0060024 9.26 NLGN3 PTEN
13 presynaptic membrane assembly GO:0097105 9.13 NLGN3 NLGN4X PTEN
14 negative regulation of excitatory postsynaptic potential GO:0090394 8.8 NLGN3 NLGN4X PTEN

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

# Name GO ID Score Top Affiliating Genes
1 neurexin family protein binding GO:0042043 8.62 NLGN3 NLGN4X
Sources

Sources for Autism

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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