MCID: ATS364
MIFTS: 67

Autism

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

Aliases & Classifications for Autism

MalaCards integrated aliases for Autism:

Name: Autism 58 12 77 38 6 3 15 39 41 17
Autistic Disorder 58 39 12 45 15 74
Autistic Disorder of Childhood Onset 12 30 6
Autism Susceptibility 1 58 13
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 multifactorial inheritance sporadic


Classifications:



Summaries for Autism

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...

Related Diseases for Autism

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 745)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 35.0 AUTS2 MBD5 NLGN3 PTEN SCN2A
2 pervasive developmental disorder 33.3 AUTS2 CDKL5 NLGN3
3 autism 16 12.5
4 autism 15 12.5
5 autism x-linked 1 12.5
6 autism x-linked 3 12.5
7 autism 17 12.5
8 autism x-linked 5 12.5
9 autism 18 12.5
10 autism x-linked 4 12.5
11 autism x-linked 2 12.5
12 macrocephaly/autism syndrome 12.5
13 atypical autism 12.5
14 autism x-linked 6 12.5
15 intellectual developmental disorder with autism and speech delay 12.5
16 autism 6 12.5
17 autism 3 12.4
18 autism 10 12.4
19 autism 19 12.4
20 autism 9 12.4
21 autism 8 12.3
22 autism 7 12.3
23 autism 11 12.3
24 autism 12 12.3
25 autism 13 12.3
26 rett syndrome 12.0
27 adnp-related intellectual disability and autism spectrum disorder 11.9
28 autism with port-wine stain 11.9
29 autism-facial port-wine stain syndrome 11.9
30 adnp syndrome 11.9
31 branched-chain keto acid dehydrogenase kinase deficiency 11.8
32 16p11.2 duplication 11.8
33 mental retardation, autosomal dominant 26 11.7
34 asperger syndrome 11.7
35 arthrogryposis, mental retardation, and seizures 11.7
36 helsmoortel-van der aa syndrome 11.7
37 intellectual disability-severe speech delay-mild dysmorphism syndrome 11.7
38 chromosome 15q11-q13 duplication syndrome 11.6
39 asperger syndrome, x-linked 1 11.6
40 asperger syndrome, x-linked 2 11.6
41 childhood disintegrative disease 11.5
42 pilarowski-bjornsson syndrome 11.5
43 16p11.2 deletion syndrome 11.5
44 syngap1-related non-syndromic intellectual disability 11.5
45 fragile x syndrome 11.5
46 timothy syndrome 11.4
47 white-sutton syndrome 11.4
48 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 11.3
49 chromosome 15q13.3 deletion syndrome 11.3
50 schaaf-yang syndrome 11.3

Graphical network of the top 20 diseases related to Autism:



Diseases related to Autism

Symptoms & Phenotypes for Autism

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

MGI Mouse Phenotypes related to Autism:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.8 CDKL5 NLGN3 PTEN

Drugs & Therapeutics for Autism

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

(show top 50) (show all 442)
# 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 53477758 439302
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
Norepinephrine Approved Phase 4,Not Applicable 51-41-2 439260
14
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
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
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
20
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
21
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 3 132539-06-1 4585
22
Buspirone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 36505-84-7 2477
23
Ziprasidone Approved Phase 4,Phase 2 146939-27-7 60854
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 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
29 Hypolipidemic Agents Phase 4,Phase 2,Not Applicable
30 Lipid Regulating Agents Phase 4,Phase 2,Not Applicable
31 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
33 Nootropic Agents Phase 4,Phase 3,Phase 1,Phase 2
34 Cholinergic Agents Phase 4,Phase 3,Phase 1,Phase 2
35 Vasodilator Agents Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
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, Intravenous Phase 4,Phase 2
40 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
41 Antibodies Phase 4,Phase 2
42 Rho(D) Immune Globulin Phase 4,Phase 2
43 Immunoglobulins Phase 4,Phase 2
44 gamma-Globulins Phase 4,Phase 2
45 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Antipsychotic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Dopamine Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
49 Serotonin Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
50 Serotonin 5-HT1 Receptor Agonists Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 1099)
# 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 Minocycline to Treat Childhood Regressive Autism Completed NCT00409747 Phase 4 Minocycline
12 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4 Aripiprazole
13 Omega-3 Fatty Acids in Autism Spectrum Disorders Completed NCT01695200 Phase 4
14 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
15 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
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 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
32 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
33 Improving Driving in Young People With Autism Spectrum Disorders Recruiting NCT03538431 Phase 4 Buspirone
34 Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
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 Self-Injury: Diagnosis and Treatment Unknown status NCT00065936 Phase 3 Naltrexone hydrochloride
42 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
43 Group Psychoeducational Program for Mothers of Children With High Functional Pervasive Developmental Disorders Unknown status NCT01243905 Phase 2, Phase 3
44 A Trial of CM-AT in Children With Autism- Open Label Extension Study Completed NCT00912691 Phase 3 CM-AT
45 A Trial of CM-AT in Children With Autism Completed NCT00881452 Phase 3 CM-AT;Placebo
46 Parent-delivered Massage for Children With Autism Completed NCT01801696 Phase 2, Phase 3
47 A Trial of CM-AT in Children With Autism With All Levels of FCT (The Blum Study) Completed NCT02410902 Phase 3 CM-AT;PLACEBO
48 Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism Completed NCT00498173 Phase 3 Atomoxetine;Placebo
49 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3 Galantamine
50 Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12

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.

Cochrane evidence based reviews: autistic disorder

Genetic Tests for Autism

Genetic tests related to Autism:

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

Anatomical Context for Autism

MalaCards organs/tissues related to Autism:

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

Publications for Autism

Articles related to Autism:

(show top 50) (show all 10013)
# Title Authors Year
1
The Notch signaling pathway inhibitor Dapt alleviates autism-like behavior, autophagy and dendritic spine density abnormalities in a valproic acid-induced animal model of autism. ( 31075347 )
2019
2
Autism Spectrum Disorder: Trends in research exploring etiopathogenesis. ( 31077508 )
2019
3
Brief Report: Olfactory Adaptation in Children with Autism Spectrum Disorders. ( 31079277 )
2019
4
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
5
Autism Spectrum Disorder and Sibling Relationships: Exploring Implications for Intervention Using a Family Systems Framework. ( 31091139 )
2019
6
Behavioral Pediatrics Meets Behavioral Economics: Autism, Mandates, and High Deductibles. ( 31092587 )
2019
7
State Mandate Laws for Autism Coverage and High-Deductible Health Plans. ( 31092588 )
2019
8
Single-cell genomics identifies cell type-specific molecular changes in autism. ( 31097668 )
2019
9
Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family. ( 31098807 )
2019
10
Autism symptoms, depression, and active social avoidance in schizophrenia: Association with self-reports and informant assessments of everyday functioning. ( 31102902 )
2019
11
Environmental scan of Canadian and UK policies for autism spectrum disorder diagnostic assessment. ( 31110463 )
2019
12
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
13
Child-rearing routines among Mexican-heritage children with autism spectrum disorder. ( 31096778 )
2019
14
More Than IQ: Executive Function Explains Adaptive Behavior Above and Beyond Nonverbal IQ in Youth With Autism and Lower IQ. ( 31026201 )
2019
15
Perceived Stress among Caregivers of Children with Autism Spectrum Disorder: A State-Wide Study. ( 31027225 )
2019
16
Large-scale analyses of the relationship between sex, age and intelligence quotient heterogeneity and cortical morphometry in autism spectrum disorder. ( 31028290 )
2019
17
A case study of suicidality presenting as a restricted interest in autism Spectrum disorder. ( 31029170 )
2019
18
Internalised stigma in adults with autism: A German multi-center survey. ( 31030006 )
2019
19
Child and Family Characteristics that Predict Autism Spectrum Disorder Specialty Clinic Appointment Attendance and Alignment with Providers. ( 31030311 )
2019
20
Interventions for Repetitive Behavior in Young Children with Autism: A Survey of Behavioral Practices. ( 31030312 )
2019
21
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes. ( 31031587 )
2019
22
Role-Play-Based Guidance for Job Interviews Using an Android Robot for Individuals With Autism Spectrum Disorders. ( 31031664 )
2019
23
Caregiver descriptions of joint activity routines with young children with autism spectrum disorder in South Africa. ( 31032484 )
2019
24
GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation. ( 31035039 )
2019
25
Pioglitazone abolishes cognition impairments as well as BDNF and neurotensin disturbances in a rat model of autism. ( 31036753 )
2019
26
Preparing Children with Autism for Transition to Mainstream School and Perspectives on Supporting Positive School Experiences. ( 31041629 )
2019
27
Non-Specialist Mediated Interventions for Autism Spectrum Disorder: An Overview. ( 31042296 )
2019
28
A randomized placebo-controlled pilot trial shows that intranasal vasopressin improves social deficits in children with autism. ( 31043522 )
2019
29
Parent/caregiver perspectives of functioning in autism spectrum disorders: A comparative study in Sweden and South Africa. ( 31044605 )
2019
30
Citalopram attenuates social behavior deficits in the BTBR T+Itpr3tf/J mouse model of autism. ( 31047973 )
2019
31
"I'm Destined to Ace This": Work Experience Placement During High School for Individuals with Autism Spectrum Disorder. ( 31049789 )
2019
32
Psychopathology in parents of children with autism spectrum disorder: A systematic review and meta-analysis of prevalence. ( 31070044 )
2019
33
From Toddlerhood to Adolescence: Which Characteristics Among Toddlers with Autism Spectrum Disorder Predict Adolescent Attention Deficit/Hyperactivity Symptom Severity? A Long-Term Follow-Up Study. ( 31069619 )
2019
34
Commentary: "Autism: a disorder linked with some trouble in intermodal matching? Putting things together a bit further": a commentary on Falck-Ytter et al. (2018). ( 30968423 )
2019
35
Comedic experience with two robots aided a child with autism spectrum disorder to realize the importance of nonverbal communication. ( 30968495 )
2019
36
Case-control study of the low intensive autism-specific early behavioral intervention A-FFIP: Outcome after one year. ( 30971173 )
2019
37
A Spectrotemporal Correlate of Language Impairment in Autism Spectrum Disorder. ( 31069618 )
2019
38
Brief Report: An Evaluation of the Social Communication Questionnaire as a Screening Tool for Autism Spectrum Disorder in Young People Referred to Child & Adolescent Mental Health Services. ( 30972651 )
2019
39
Social Cognition in Autism and Other Neurodevelopmental Disorders: A Co-twin Control Study. ( 30972652 )
2019
40
Reduced heart rate variability in adults with autism spectrum disorder. ( 30972967 )
2019
41
Emotional false memory in autism spectrum disorder: More than spared. ( 30973243 )
2019
42
Proband and Familial Autoimmune Diseases Are Associated With Proband Diagnosis of Autism Spectrum Disorders. ( 30975444 )
2019
43
Family Physicians' Awareness of Autism Spectrum Disorder: Results from a Survey Study. ( 30976342 )
2019
44
The Economic Costs of Autism Spectrum Disorder: A Literature Review. ( 30976961 )
2019
45
Abnormal maturation of the resting-state peak alpha frequency in children with autism spectrum disorder. ( 30977235 )
2019
46
Reduced Amygdala-Prefrontal Functional Connectivity in Children With Autism Spectrum Disorder and Co-occurring Disruptive Behavior. ( 30979647 )
2019
47
Retinal defects in mice lacking the autism-associated gene Engrailed-2. ( 30980901 )
2019
48
Variations in Genes Related to Sleep Patterns in Children With Autism Spectrum Disorder. ( 30983407 )
2019
49
Autism: The Second Triad of Impairment Demystified. ( 30985542 )
2019
50
The MMR Vaccine and Autism. ( 30986133 )
2019

Variations for Autism

ClinVar genetic disease variations for Autism:

6 (show top 50) (show all 238)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLGN4X NC_000023.11: g.(?_4692064)_(6048196_?)del deletion Likely pathogenic GRCh38 Chromosome X, 4692064: 6048196
2 DIPK2B; DUSP21; EFHC2; FUNDC1; KDM6A; LINC01204; LINC02595; MIR221; MIR222 NC_000023.11: g.(?_44209146)_(46109507_?)del deletion Likely pathogenic GRCh38 Chromosome X, 44209146: 46109507
3 DMD NC_000023.11: g.(?_32345828)_(32377888_?)del deletion Likely pathogenic GRCh38 Chromosome X, 32345828: 32377888
4 DMD NC_000023.11: g.(?_31660226)_(31820401_?)del deletion Likely pathogenic GRCh38 Chromosome X, 31660226: 31820401
5 subset of 163 genes:ANOS1; AP1S2; ARSE; CDKL5; CLCN4; CNKSR2; FANCB; HCCS; MID1; NHS; NLGN4X; OFD1; PDHA1; PHEX; PIGA; RPS6KA3; RS1; SHOX; SMS; STS; TRAPPC2 NC_000023.11: g.(?_10000)_(22474705_?)dup duplication Likely pathogenic GRCh38 Chromosome X, 10000: 22474705
6 ASTN2 NC_000009.12: g.(?_116611967)_(116683530_?)del deletion Likely pathogenic GRCh38 Chromosome 9, 116611967: 116683530
7 MSRA NC_000008.11: g.(?_9998540)_(10117911_?)del deletion Likely pathogenic GRCh38 Chromosome 8, 9998540: 10117911
8 ALKAL1; RB1CC1 NC_000008.11: g.(?_52556598)_(52839580_?)dup duplication Likely pathogenic GRCh38 Chromosome 8, 52556598: 52839580
9 ALKAL1; RB1CC1 NC_000008.11: g.(?_52477663)_(52864628_?)dup duplication Likely pathogenic GRCh38 Chromosome 8, 52477663: 52864628
10 CSMD1 NC_000008.11: g.(?_4410048)_(4458635_?)del deletion Likely pathogenic GRCh38 Chromosome 8, 4410048: 4458635
11 CSMD1 NC_000008.11: g.(?_3914469)_(4157437_?)del deletion Likely pathogenic GRCh38 Chromosome 8, 3914469: 4157437
12 CSMD1 NC_000008.11: g.(?_3876145)_(3961401_?)del deletion Likely pathogenic GRCh38 Chromosome 8, 3876145: 3961401
13 subset of 30 genes:ELN NC_000007.14: g.(?_73323103)_(74726596_?)dup duplication Pathogenic GRCh38 Chromosome 7, 73323103: 74726596
14 covers 26 genes, none of which curated to show dosage sensitivity NC_000007.14: g.(?_52551984)_(56315037_?)dup duplication Likely pathogenic GRCh38 Chromosome 7, 52551984: 56315037
15 ESYT2; LINC00689; LOC108254663; LOC110121203; NCAPG2; VIPR2; WDR60 NC_000007.14: g.(?_158603240)_(159108319_?)dup duplication Likely pathogenic GRCh38 Chromosome 7, 158603240: 159108319
16 subset of 44 genes:DPP6; MNX1; SHH NC_000007.14: g.(?_152454659)_(158705768_?)del deletion Likely pathogenic GRCh38 Chromosome 7, 152454659: 158705768
17 CNTNAP2 NC_000007.14: g.(?_146655407)_(146796363_?)del deletion Likely pathogenic GRCh38 Chromosome 7, 146655407: 146796363
18 DOCK4; DOCK4-AS1 NC_000007.14: g.(?_111777402)_(111865491_?)del deletion Likely pathogenic GRCh38 Chromosome 7, 111777402: 111865491
19 PRKN NC_000006.12: g.(?_162440726)_(162603304_?)del deletion Likely pathogenic GRCh38 Chromosome 6, 162440726: 162603304
20 PRKN NC_000006.12: g.(?_162184117)_(162211182_?)del deletion Likely pathogenic GRCh38 Chromosome 6, 162184117: 162211182
21 PRKN NC_000006.12: g.(?_162162293)_(162311859_?)del deletion Likely pathogenic GRCh38 Chromosome 6, 162162293: 162311859
22 PRKN NC_000006.12: g.(?_162036131)_(162191715_?)del deletion Likely pathogenic GRCh38 Chromosome 6, 162036131: 162191715
23 PRKN NC_000006.12: g.(?_162035873)_(162195188_?)del deletion Likely pathogenic GRCh38 Chromosome 6, 162035873: 162195188
24 covers 30 genes, none of which curated to show dosage sensitivity NC_000005.10: g.(?_114046360)_(118610426_?)dup duplication Likely pathogenic GRCh38 Chromosome 5, 114046360: 118610426
25 covers 28 genes, none of which curated to show dosage sensitivity NC_000004.12: g.(?_185324779)_(188495308_?)dup duplication Likely pathogenic GRCh38 Chromosome 4, 185324779: 188495308
26 NR3C2 NC_000004.12: g.(?_148159332)_(148473475_?)del deletion Likely pathogenic GRCh38 Chromosome 4, 148159332: 148473475
27 FHIT; LOC107325936 NC_000003.12: g.(?_60501297)_(60591815_?)del deletion Likely pathogenic GRCh38 Chromosome 3, 60501297: 60591815
28 CHL1; CHL1-AS1; CHL1-AS2; CNTN4; CNTN4-AS2; CNTN6; LINC01266; LOC107522028; LOC107522035; LOC111429626 NC_000003.12: g.(?_54166)_(2405982_?)dup duplication Likely pathogenic GRCh38 Chromosome 3, 54166: 2405982
29 subset of 33 genes:PAK2 NC_000003.12: g.(?_195939900)_(197632041_?)dup duplication Likely pathogenic GRCh38 Chromosome 3, 195939900: 197632041
30 CNTN6 NC_000003.12: g.(?_1247669)_(1285156_?)del deletion Likely pathogenic GRCh38 Chromosome 3, 1247669: 1285156
31 CNTN6 NC_000003.12: g.(?_1204527)_(1310468_?)del deletion Likely pathogenic GRCh38 Chromosome 3, 1204527: 1310468
32 CNTN6 NC_000003.12: g.(?_1185337)_(1255844_?)del deletion Likely pathogenic GRCh38 Chromosome 3, 1185337: 1255844
33 CNTN6 NC_000003.12: g.(?_1133359)_(1192637_?)del deletion Likely pathogenic GRCh38 Chromosome 3, 1133359: 1192637
34 LOC730100; NRXN1 NC_000002.12: g.(?_51001206)_(51200739_?)del deletion Pathogenic GRCh38 Chromosome 2, 51001206: 51200739
35 LOC110121071; LOC730100; MIR8485; NRXN1 NC_000002.12: g.(?_50496341)_(51317388_?)del deletion Pathogenic GRCh38 Chromosome 2, 50496341: 51317388
36 AGAP1 NC_000002.12: g.(?_235927172)_(236034017_?)del deletion Likely pathogenic GRCh38 Chromosome 2, 235927172: 236034017
37 IGL; IGLV10-54; IGLV11-55; IGLV4-60; IGLV4-69; IGLV6-57; IGLV8-61; TOP3B NC_000022.11: g.(?_21959229)_(22218520_?)del deletion Likely pathogenic GRCh38 Chromosome 22, 21959229: 22218520
38 subset of 62 genes:TBX1 NC_000022.11: g.(?_19295635)_(21510330_?)dup duplication Pathogenic GRCh38 Chromosome 22, 19295635: 21510330
39 subset of 71 genes:TBX1 NC_000022.11: g.(?_18904453)_(21277123_?)dup duplication Pathogenic GRCh38 Chromosome 22, 18904453: 21277123
40 subset of 49 genes:TBX1 NC_000022.11: g.(?_18904453)_(20324329_?)dup duplication Pathogenic GRCh38 Chromosome 22, 18904453: 20324329
41 MBD5 NC_000002.12: g.(?_148157591)_(148226058_?)del deletion Pathogenic GRCh38 Chromosome 2, 148157591: 148226058
42 subset of 92 genes:DIP2A NC_000021.9: g.(?_43403441)_(46673937_?)dup duplication Likely pathogenic GRCh38 Chromosome 21, 43403441: 46673937
43 subset of 31 genes:DSCAM NC_000021.9: g.(?_38981673)_(41568791_?)del deletion Likely pathogenic GRCh38 Chromosome 21, 38981673: 41568791
44 LOC101927159; PTPRT NC_000020.11: g.(?_42579501)_(42691367_?)del deletion Likely pathogenic GRCh38 Chromosome 20, 42579501: 42691367
45 LOC101927159; PTPRT NC_000020.11: g.(?_42526267)_(42726111_?)del deletion Likely pathogenic GRCh38 Chromosome 20, 42526267: 42726111
46 PTPRT NC_000020.11: g.(?_42461895)_(42648116_?)del deletion Likely pathogenic GRCh38 Chromosome 20, 42461895: 42648116
47 PTPRT NC_000020.11: g.(?_42303583)_(42488707_?)del deletion Likely pathogenic GRCh38 Chromosome 20, 42303583: 42488707
48 NINL NC_000020.11: g.(?_25564868)_(25611357_?)del deletion Likely pathogenic GRCh38 Chromosome 20, 25564868: 25611357
49 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic GRCh38 Chromosome X, 136040057: 136040073
50 SLC9A6 NM_001042537.1(SLC9A6): c.1728-19_1728-3delTCTTCCTTAACCACCGC deletion Likely pathogenic GRCh37 Chromosome X, 135122216: 135122232

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 32182 1 34400000 43900000 Microdeletion MYCL1 Autism
2 32183 1 34400000 43900000 Microdeletion OXCT2 Autism
3 32184 1 34400000 43900000 Microdeletion PPIE Autism
4 32185 1 34400000 43900000 Microdeletion PPT1 Autism
5 32186 1 34400000 43900000 Microdeletion RIMS3 Autism
6 32187 1 34400000 43900000 Microdeletion RLF Autism
7 32189 1 34400000 43900000 Microdeletion TMCO2 Autism
8 32190 1 34400000 43900000 Microdeletion TRIT1 Autism
9 32191 1 34400000 43900000 Microdeletion ZMPSTE24 Autism
10 32192 1 34400000 43900000 Microdeletion and Autism
11 56007 11 56599848 59990367 Loss PLAC1L Autism
12 56008 11 56599848 59990367 Loss PRG2 Autism
13 56009 11 56599848 59990367 Loss PRG3 Autism
14 56010 11 56599848 59990367 Loss R5B3 Autism
15 56011 11 56599848 59990367 Loss RTN4RL2 Autism
16 56012 11 56599848 59990367 Loss SERPING1 Autism
17 56013 11 56599848 59990367 Loss SLC43A1 Autism
18 56014 11 56599848 59990367 Loss SLC43A3 Autism
19 56015 11 56599848 59990367 Loss SMTNL1 Autism
20 56016 11 56599848 59990367 Loss SSRP1 Autism
21 56017 11 56599848 59990367 Loss STX3 Autism
22 56018 11 56599848 59990367 Loss TCN1 Autism
23 56019 11 56599848 59990367 Loss TIMM10 Autism
24 56020 11 56599848 59990367 Loss TMX2 Autism
25 56021 11 56599848 59990367 Loss TNKS1BP1 Autism
26 56022 11 56599848 59990367 Loss UBE2L6 Autism
27 56023 11 56599848 59990367 Loss YPEL4 Autism
28 56024 11 56599848 59990367 Loss ZDHHC5 Autism
29 56025 11 56599848 59990367 Loss ZFP91 Autism
30 56026 11 56613461 60165703 Gain Autism
31 71329 12 69172051 73378387 Loss RAB21 Autism
32 71330 12 69172051 73378387 Loss TPH2 Autism
33 76387 13 30610504 30610779 Gain HSPH1 Autism
34 75647 13 22409581 23826468 Deletion Autism
35 74724 13 110565871 110565970 Loss ARHGEF7 Autism
36 74287 13 103545187 104974554 Deletion Autism
37 74019 12 866621 876024 Copy number CEP290 Autism
38 74018 12 75262397 75266353 Copy number BBS10 Autism
39 74017 12 75262397 75266353 Copy number Autism
40 74016 12 633993 639389 Copy number GNS Autism
41 74015 12 5467710 54685576 Copy number SUOX Autism
42 74014 12 49185035 49428717 Copy number DIP2B Autism
43 74013 12 47864850 47869128 Copy number TUBA1A Autism
44 74012 12 47699025 47735374 Copy number MLL2 Autism
45 74011 12 254947 259521 Copy number KRAS Autism
46 74010 12 23277 27776 Copy number CACNA1C Autism
47 74009 12 130577 142489 Copy number GRIN2B Autism
48 74008 12 12210393 122762818 Copy number ATP6V0A2 Autism
49 74007 12 1113200 1114019 Copy number PTPN11 Autism
50 74006 12 1013584 10198508 Copy number IGF1 Autism

Expression for Autism

Search GEO for disease gene expression data for Autism.

Pathways for Autism

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

GO Terms for Autism

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

# Name GO ID Score Top Affiliating Genes
1 adult behavior GO:0030534 9.43 NLGN3 PTEN
2 neuronal action potential GO:0019228 9.4 SCN2A CHRNA1
3 positive regulation of excitatory postsynaptic potential GO:2000463 9.37 NLGN3 PTEN
4 axon extension GO:0048675 9.32 AUTS2 NLGN3
5 presynaptic membrane assembly GO:0097105 9.26 NLGN3 PTEN
6 negative regulation of excitatory postsynaptic potential GO:0090394 9.16 NLGN3 PTEN
7 negative regulation of dendritic spine morphogenesis GO:0061002 8.96 NLGN3 PTEN
8 rhythmic synaptic transmission GO:0060024 8.62 PTEN NLGN3

Sources for Autism

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
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