MCID: ATS364
MIFTS: 69

Autism

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

Aliases & Classifications for Autism

MalaCards integrated aliases for Autism:

Name: Autism 57 12 76 37 6 3 15 38 40
Autistic Disorder 57 38 12 44 15 73
Autistic Disorder of Childhood Onset 12 29 6
Autism Susceptibility 1 57
Kanner's Syndrome 12
Childhood Autism 12
Infantile Autism 12
Autistic 55

Characteristics:

OMIM:

57
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:

32
autism:
Onset and clinical course childhood onset
Inheritance heterogeneous sporadic multifactorial inheritance


Classifications:



Summaries for Autism

OMIM : 57 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 intellectual disability and seizures

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 : 76 Autism is a developmental disorder characterized by troubles with social interaction and communication,... more...

Related Diseases for Autism

Diseases in the Autism family:

Autism 5 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 644)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 34.6 AUTS2 MECP2 NLGN3 NLGN4X SCN2A SHANK2
2 pervasive developmental disorder 33.1 AUTS2 CDKL5 MECP2 NLGN3 NLGN4X SHANK2
3 asperger syndrome 33.1 MECP2 NLGN3 NLGN4X
4 angelman syndrome 30.5 CDKL5 MECP2 SNRPN
5 seizure disorder 30.3 CDKL5 MECP2 SCN2A
6 bruxism 29.9 CDKL5 MECP2
7 west syndrome 29.7 CDKL5 MECP2 SCN2A
8 macrocephaly/autism syndrome 12.5
9 atypical autism 12.5
10 mental retardation with language impairment and with or without autistic features 12.4
11 autism 6 12.4
12 autism 3 12.4
13 autism 16 12.4
14 autism x-linked 1 12.4
15 autism x-linked 3 12.4
16 autism 15 12.4
17 autism 17 12.4
18 autism x-linked 5 12.4
19 autism 18 12.4
20 autism x-linked 4 12.4
21 autism x-linked 2 12.4
22 autism 5 12.3
23 autism x-linked 6 12.3
24 autism 8 12.3
25 autism 7 12.3
26 autism 11 12.3
27 autism 12 12.3
28 autism 13 12.3
29 autism 9 12.3
30 autism 10 12.3
31 autism 19 12.3
32 adnp-related intellectual disability and autism spectrum disorder 12.0
33 rett syndrome 11.9
34 autism with port-wine stain 11.9
35 autism-facial port-wine stain syndrome 11.9
36 adnp syndrome 11.8
37 16p11.2 duplication 11.7
38 mental retardation, autosomal dominant 26 11.7
39 intellectual disability-severe speech delay-mild dysmorphism syndrome 11.6
40 chromosome 15q11-q13 duplication syndrome 11.6
41 branched-chain keto acid dehydrogenase kinase deficiency 11.6
42 childhood disintegrative disease 11.5
43 arthrogryposis, mental retardation, and seizures 11.5
44 helsmoortel-van der aa syndrome 11.5
45 16p11.2 deletion syndrome 11.5
46 syngap1-related non-syndromic intellectual disability 11.5
47 fragile x syndrome 11.4
48 timothy syndrome 11.4
49 dysphasia, familial developmental 11.2
50 specific language impairment 11.2

Graphical network of the top 20 diseases related to Autism:



Diseases related to Autism

Symptoms & Phenotypes for Autism

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Autism:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 frequent (33%) HP:0001250
3 eeg abnormality 32 frequent (33%) HP:0002353
4 delayed speech and language development 32 HP:0000750
5 stereotypy 32 HP:0000733
6 autism 32 HP:0000717
7 impaired use of nonverbal behaviors 32 HP:0000758
8 restrictive behavior 32 HP:0000723
9 increased serum serotonin 32 frequent (33%) HP:0003144
10 impaired ability to form peer relationships 32 HP:0000728
11 lack of spontaneous play 32 HP:0000721
12 inflexible adherence to routines or rituals 32 HP:0000732

Drugs & Therapeutics for Autism

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

(show top 50) (show all 425)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 1 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 Piracetam Approved, Investigational Phase 4 7491-74-9
6
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
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
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
12
Minocycline Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 10118-90-8 5281021
13
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Not Applicable 616-91-1 12035
14
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
15
Guanfacine Approved, Investigational Phase 4,Not Applicable 29110-47-2 3519
16
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3 1744-22-5 5070
17
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 3 132539-06-1 4585
18
Buspirone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 36505-84-7 2477
19
Ziprasidone Approved Phase 4,Phase 2 146939-27-7 60854
20
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
21
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
22
Choline Approved, Nutraceutical Phase 4 62-49-7 305
23
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 73-31-4 896
24 Etiracetam Investigational Phase 4 33996-58-6
25 Vasodilator Agents Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
26 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2
27 Cholinergic Agents Phase 4,Phase 3,Phase 1,Phase 2
28 Hypolipidemic Agents Phase 4,Phase 2
29 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Nootropic Agents Phase 4,Phase 3,Phase 1,Phase 2
31 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
32 Lipid Regulating Agents Phase 4,Phase 2
33 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
35 Oxytocics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
36 Immunoglobulins Phase 4,Phase 2
37 Rho(D) Immune Globulin Phase 4,Phase 2
38 Immunoglobulins, Intravenous Phase 4,Phase 2
39 gamma-Globulins Phase 4,Phase 2
40 Antibodies Phase 4,Phase 2
41 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
42 Antipsychotic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Tranquilizing 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 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
47 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
48 Neuroprotective Agents Phase 4,Phase 2,Phase 3
49 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
50 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 1044)
# 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 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
10 Divalproex Sodium ER in Adult Autism Completed NCT00211796 Phase 4 Divalproex Sodium ER
11 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4 Aripiprazole
12 Omega-3 Fatty Acids in Autism Spectrum Disorders Completed NCT01695200 Phase 4
13 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
14 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
15 Minocycline to Treat Childhood Regressive Autism Completed NCT00409747 Phase 4 Minocycline
16 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
17 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
18 Phase IV Long-term Maintenance Study of Aripiprazole in the Treatment of Irritability Associated With Autistic Disorder Completed NCT01227668 Phase 4 Aripiprazole;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 A Study to Evaluate the Safety of HIN1 Monovalent Vaccine (MEDI3414) in Children 2 to 17 Years of Age Completed NCT00946101 Phase 4
28 A Study to Evaluate the Safety of H1N1 Monovalent Vaccine (MEDI3414) in Healthy Adults Completed NCT00945893 Phase 4
29 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
30 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
31 Improving Driving in Young People With Autism Spectrum Disorders Recruiting NCT03538431 Phase 4 Buspirone
32 Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
33 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
34 Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes Enrolling by invitation NCT03333629 Phase 4
35 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
36 Melatonin CR for the Treatment of Impaired Sleep Maintenance in 4-8 Year Old Children With Autism Spectrum Disorders Terminated NCT01033565 Phase 4 Natrol
37 1/2-MC4R Genotype and Pediatric Antipsychotic Drug- Induced Weight Gain Terminated NCT01844700 Phase 4 Ziprasidone;aripiprazole, quetiapine, or risperidone
38 Valproate Response in Aggressive Autistic Adolescents Unknown status NCT00065884 Phase 3 Valproate
39 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
40 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
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 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Completed NCT01972074 Phase 3 Memantine;Placebo

Search NIH Clinical Center for Autism

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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 29 SNRPN

Anatomical Context for Autism

MalaCards organs/tissues related to Autism:

41
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

Publications for Autism

Articles related to Autism:

(show top 50) (show all 6765)
# Title Authors Year
1
Treatment of catatonia in autism spectrum disorders. ( 30506668 )
2019
2
Characterization of an Animal Model of Autism and Social Interaction. ( 30535692 )
2019
3
Preference for speech in infancy differentially predicts language skills and autism-like behaviors. ( 30448530 )
2019
4
Perception of biological motions is preserved in people with autism spectrum disorder: electrophysiological and behavioural evidences. ( 30456855 )
2019
5
Aluminium in brain tissue in autism. ( 30466923 )
2019
6
Autism in the Gulf States: a regional overview. ( 30468659 )
2019
7
Reduced connectivity between mentalizing and mirror systems in autism spectrum condition. ( 30468777 )
2019
8
Insular function in autism: Update and future directions in neuroimaging and interventions. ( 30381235 )
2019
9
Electroconvulsive Treatment for Catatonia in Autism Spectrum Disorders. ( 30389070 )
2019
10
Alteration of gut microbiota-associated epitopes in children with autism spectrum disorders. ( 30394313 )
2019
11
Prosocial effects of an oxytocin metabolite, but not synthetic oxytocin receptor agonists, in a mouse model of autism. ( 30399367 )
2019
12
Child-present and child-themed marital conflict in daily life of parents of children with and without autism spectrum disorder. ( 30407023 )
2019
13
Less differentiated facial responses to naturalistic films of another person's emotional expressions in adolescents and adults with High-Functioning Autism Spectrum Disorder. ( 30336172 )
2019
14
Relation Between Infant Microbiota and Autism?: Results from a National Cohort Sibling Design Study. ( 30273187 )
2019
15
Associations between broader autism phenotype (BAP) and maternal attachment are moderated by maternal postpartum depression when infants are one month old: A prospective study of the Japan environment & children's study. ( 30273887 )
2019
16
Clinical considerations for the inclusion of individuals with autism spectrum disorder in clinical trials. ( 30290207 )
2019
17
Children with Autism Spectrum Disorder, Developmental Coordination Disorder, and typical development differ in characteristics of dynamic postural control: A preliminary study. ( 30245240 )
2019
18
The contribution of [1H] magnetic resonance spectroscopy to the study of excitation-inhibition in autism. ( 30248378 )
2019
19
Modeling regional dynamics in low-frequency fluctuation and its application to Autism spectrum disorder diagnosis. ( 30248456 )
2019
20
Increased oxidative stress in the cerebellum and peripheral immune cells leads to exaggerated autism-like repetitive behavior due to deficiency of antioxidant response in BTBR T + tf/J mice. ( 30261217 )
2019
21
Dysregulated enzymatic antioxidant network in peripheral neutrophils and monocytes in children with autism. ( 30145184 )
2019
22
Is there an "antisocial" cerebellum? Evidence from disorders other than autism characterized by abnormal social behaviours. ( 30153496 )
2019
23
Regulatory genes and pathways disrupted in autism spectrum disorders. ( 30165121 )
2019
24
Cannabidiol as a suggested candidate for treatment of autism spectrum disorder. ( 30171992 )
2019
25
Corrigendum to "Behavioral assessments of BTBR T+Itpr3tf/J mice by tests of object attention and elevated open platform: implications for an animal model of psychiatric comorbidity in autism" [Behav. Brain Res. 347 (2018) 140-147]. ( 30195455 )
2019
26
Juvenile Shank3b deficient mice present with behavioral phenotype relevant to autism spectrum disorder. ( 30134148 )
2019
27
The association of excitation and inhibition signaling with the relative symptom expression of autism and psychosis-proneness: Implications for psychopharmacology. ( 30075170 )
2019
28
Exploring the relationship between fairness and 'brain types' in children with high-functioning autism spectrum disorder. ( 30009870 )
2019
29
Understanding facial expressivity in autism spectrum disorder: An inside out review of the biological basis and clinical implications. ( 29777730 )
2019
30
High efficiency classification of children with autism spectrum disorder. ( 29447214 )
2018
31
A comparison of functional academic and daily living skills in males with fragile X syndrome with and without autism. ( 29730505 )
2018
32
Recurrence quantification analysis of resting state EEG signals in autism spectrum disorder - a systematic methodological exploration of technical and demographic confounders in the search for biomarkers. ( 29961422 )
2018
33
HLA-Ga8914bp Insertion and the KIR2DS1-HLAC2 Complex Impact on Behavioral Impairment in Children with Autism Spectrum Disorders. ( 28627421 )
2018
34
Clinical trials in autism spectrum disorder: evidence, challenges and future directions. ( 29389748 )
2018
35
<i>De novo ATP1A3</i> and compound heterozygous <i>NLRP3</i> mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. ( 29922587 )
2018
36
Distinct patterns of discrimination and orienting for temporal processing of speech and nonspeech in Chinese children with autism: an event-related potential study. ( 28833760 )
2018
37
Comparing Attention to Socially-Relevant Stimuli in Autism Spectrum Disorder and Developmental Coordination Disorder. ( 29313185 )
2018
38
Metabotropic glutamate receptor 5 tracer [<sup>18</sup>F]-FPEB displays increased binding potential in postcentral gyrus and cerebellum of male individuals with autism: a pilot PET study. ( 29449954 )
2018
39
Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism. ( 29352035 )
2018
40
Correction to: Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study. ( 29450835 )
2018
41
Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability. ( 29450820 )
2018
42
The Gestalt of functioning in autism spectrum disorder: Results of the international conference to develop final consensus International Classification of Functioning, Disability and Health core sets. ( 29378422 )
2018
43
Do autism spectrum disorder and anorexia nervosa have some eating disturbances in common? ( 29974245 )
2018
44
Comparison of Spontaneously Elicited Language Patterns in Specific Language Impairment and High-Functioning Autism. ( 29289438 )
2018
45
Association of Prenatal Ultrasonography and Autism Spectrum Disorder. ( 29435580 )
2018
46
Prenatal Ultrasonography and the Incidence of Autism Spectrum Disorder. ( 29435566 )
2018
47
Pulling back the curtain: Issues in conducting an intervention study with transition-aged youth with autism spectrum disorder and their families. ( 29439586 )
2018
48
Social Interactions Between 24-Month-Old Children and Their Older Sibling with Autism Spectrum Disorder: Characteristics and Association with Social-Communicative Development. ( 29971663 )
2018
49
Pathophysiological and neurobehavioral characteristics of a propionic acid-mediated autism-like rat model. ( 29447237 )
2018
50
Early motor signs of autism spectrum disorder in spontaneous position and movement of the head. ( 29450616 )
2018

Variations for Autism

ClinVar genetic disease variations for Autism:

6 (show top 50) (show all 108)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAMK2G NM_172171.2(CAMK2G): c.875G> C (p.Arg292Pro) single nucleotide variant Likely pathogenic rs397514627 GRCh37 Chromosome 10, 75602244: 75602244
2 CAMK2G NM_172171.2(CAMK2G): c.875G> C (p.Arg292Pro) single nucleotide variant Likely pathogenic rs397514627 GRCh38 Chromosome 10, 73842486: 73842486
3 SCN1A NM_006920.4(SCN1A): c.1625G> A (p.Arg542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121918817 GRCh37 Chromosome 2, 166901590: 166901590
4 SCN1A NM_006920.4(SCN1A): c.1625G> A (p.Arg542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121918817 GRCh38 Chromosome 2, 166045080: 166045080
5 SCN1A NM_006920.4(SCN1A): c.3068T> C (p.Ile1023Thr) single nucleotide variant Likely benign rs121918818 GRCh37 Chromosome 2, 166892886: 166892886
6 SCN1A NM_006920.4(SCN1A): c.3068T> C (p.Ile1023Thr) single nucleotide variant Likely benign rs121918818 GRCh38 Chromosome 2, 166036376: 166036376
7 ANK3 NM_020987.4(ANK3): c.4705T> G (p.Ser1569Ala) single nucleotide variant Uncertain significance rs375050420 GRCh37 Chromosome 10, 61835934: 61835934
8 ANK3 NM_020987.4(ANK3): c.4705T> G (p.Ser1569Ala) single nucleotide variant Uncertain significance rs375050420 GRCh38 Chromosome 10, 60076176: 60076176
9 AMPD1 NM_000036.2(AMPD1): c.1449C> G (p.Cys483Trp) single nucleotide variant Uncertain significance rs587779369 GRCh37 Chromosome 1, 115220010: 115220010
10 AMPD1 NM_000036.2(AMPD1): c.1449C> G (p.Cys483Trp) single nucleotide variant Uncertain significance rs587779369 GRCh38 Chromosome 1, 114677389: 114677389
11 AMPD1 NM_000036.2(AMPD1): c.1498C> T (p.Arg500Cys) single nucleotide variant Uncertain significance rs587779370 GRCh37 Chromosome 1, 115218614: 115218614
12 AMPD1 NM_000036.2(AMPD1): c.1498C> T (p.Arg500Cys) single nucleotide variant Uncertain significance rs587779370 GRCh38 Chromosome 1, 114675993: 114675993
13 AMPD1 NM_000036.2(AMPD1): c.1569C> T (p.Thr523=) single nucleotide variant Likely benign rs587779371 GRCh37 Chromosome 1, 115218543: 115218543
14 AMPD1 NM_000036.2(AMPD1): c.1569C> T (p.Thr523=) single nucleotide variant Likely benign rs587779371 GRCh38 Chromosome 1, 114675922: 114675922
15 AMPD1 NM_000036.2(AMPD1): c.1714C> T (p.Pro572Ser) single nucleotide variant Uncertain significance rs587779372 GRCh37 Chromosome 1, 115218215: 115218215
16 AMPD1 NM_000036.2(AMPD1): c.1714C> T (p.Pro572Ser) single nucleotide variant Uncertain significance rs587779372 GRCh38 Chromosome 1, 114675594: 114675594
17 AMPD1 NM_000036.2(AMPD1): c.1877C> G (p.Ser626Cys) single nucleotide variant Uncertain significance rs587779373 GRCh37 Chromosome 1, 115217395: 115217395
18 AMPD1 NM_000036.2(AMPD1): c.1877C> G (p.Ser626Cys) single nucleotide variant Uncertain significance rs587779373 GRCh38 Chromosome 1, 114674774: 114674774
19 AMPD1 NM_000036.2(AMPD1): c.2042C> T (p.Thr681Ile) single nucleotide variant Uncertain significance rs587779374 GRCh37 Chromosome 1, 115216561: 115216561
20 AMPD1 NM_000036.2(AMPD1): c.2042C> T (p.Thr681Ile) single nucleotide variant Uncertain significance rs587779374 GRCh38 Chromosome 1, 114673940: 114673940
21 AMPD1 NM_000036.2(AMPD1): c.31C> G (p.Gln11Glu) single nucleotide variant Uncertain significance rs587779375 GRCh37 Chromosome 1, 115238161: 115238161
22 AMPD1 NM_000036.2(AMPD1): c.31C> G (p.Gln11Glu) single nucleotide variant Uncertain significance rs587779375 GRCh38 Chromosome 1, 114695540: 114695540
23 AMPD1 NM_000036.2(AMPD1): c.606T> G (p.Ile202Met) single nucleotide variant Uncertain significance rs542684385 GRCh37 Chromosome 1, 115226860: 115226860
24 AMPD1 NM_000036.2(AMPD1): c.606T> G (p.Ile202Met) single nucleotide variant Uncertain significance rs542684385 GRCh38 Chromosome 1, 114684239: 114684239
25 AMPD1 NM_000036.2(AMPD1): c.608A> T (p.Asp203Val) single nucleotide variant Uncertain significance rs572362619 GRCh37 Chromosome 1, 115226858: 115226858
26 AMPD1 NM_000036.2(AMPD1): c.608A> T (p.Asp203Val) single nucleotide variant Uncertain significance rs572362619 GRCh38 Chromosome 1, 114684237: 114684237
27 AMPD1 NM_000036.2(AMPD1): c.639C> T (p.Phe213=) single nucleotide variant Likely benign rs587779376 GRCh37 Chromosome 1, 115226827: 115226827
28 AMPD1 NM_000036.2(AMPD1): c.639C> T (p.Phe213=) single nucleotide variant Likely benign rs587779376 GRCh38 Chromosome 1, 114684206: 114684206
29 AMPD1 NM_000036.2(AMPD1): c.702T> A (p.Pro234=) single nucleotide variant Likely benign rs587779377 GRCh37 Chromosome 1, 115223044: 115223044
30 AMPD1 NM_000036.2(AMPD1): c.702T> A (p.Pro234=) single nucleotide variant Likely benign rs587779377 GRCh38 Chromosome 1, 114680423: 114680423
31 AMPD1 NM_000036.2(AMPD1): c.70G> A (p.Ala24Thr) single nucleotide variant Uncertain significance rs587779378 GRCh37 Chromosome 1, 115238122: 115238122
32 AMPD1 NM_000036.2(AMPD1): c.70G> A (p.Ala24Thr) single nucleotide variant Uncertain significance rs587779378 GRCh38 Chromosome 1, 114695501: 114695501
33 AMPD1 NM_000036.2(AMPD1): c.826G> A (p.Asp276Asn) single nucleotide variant Uncertain significance rs587779379 GRCh37 Chromosome 1, 115222920: 115222920
34 AMPD1 NM_000036.2(AMPD1): c.826G> A (p.Asp276Asn) single nucleotide variant Uncertain significance rs587779379 GRCh38 Chromosome 1, 114680299: 114680299
35 CDKL5 NM_003159.2(CDKL5): c.1523T> C (p.Ile508Thr) single nucleotide variant Uncertain significance rs201893287 GRCh37 Chromosome X, 18622567: 18622567
36 CDKL5 NM_003159.2(CDKL5): c.1523T> C (p.Ile508Thr) single nucleotide variant Uncertain significance rs201893287 GRCh38 Chromosome X, 18604447: 18604447
37 ALG1L2 NC_000003.12: g.130044540_130087902del43363 deletion Uncertain significance GRCh38 Chromosome 3, 130044540: 130087902
38 Uncertain significance NC_000004.12: g.4106749_4157518del50770 deletion 0 rsRCV000186555 Chromosome 4, 4106749:4157518 204363
39 POLG NM_002693.2(POLG): c.678G> C (p.Gln226His) single nucleotide variant Uncertain significance rs147282197 GRCh38 Chromosome 15, 89330258: 89330258
40 POLG NM_002693.2(POLG): c.678G> C (p.Gln226His) single nucleotide variant Uncertain significance rs147282197 GRCh37 Chromosome 15, 89873489: 89873489
41 SHANK2 NM_133266.4(SHANK2): c.689G> A (p.Arg230His) single nucleotide variant Conflicting interpretations of pathogenicity rs117843717 GRCh38 Chromosome 11, 70490374: 70490374
42 SHANK2 NM_133266.4(SHANK2): c.689G> A (p.Arg230His) single nucleotide variant Conflicting interpretations of pathogenicity rs117843717 GRCh37 Chromosome 11, 70336479: 70336479
43 NR4A2 NM_006186.3(NR4A2): c.357G> T (p.Ser119=) single nucleotide variant Benign rs797046133 GRCh37 Chromosome 2, 157186342: 157186342
44 NR4A2 NM_006186.3(NR4A2): c.357G> T (p.Ser119=) single nucleotide variant Benign rs797046133 GRCh38 Chromosome 2, 156329830: 156329830
45 ALDH1A3 NM_000693.3(ALDH1A3): c.1514T> C (p.Ile505Thr) single nucleotide variant Likely pathogenic rs797046134 GRCh37 Chromosome 15, 101454953: 101454953
46 ALDH1A3 NM_000693.3(ALDH1A3): c.1514T> C (p.Ile505Thr) single nucleotide variant Likely pathogenic rs797046134 GRCh38 Chromosome 15, 100914748: 100914748
47 GAS8-AS1 NR_122031.1(GAS8-AS1): n.692_693insCTGCGGGGCAGC insertion Likely benign rs769078996 GRCh37 Chromosome 16, 90095617: 90095618
48 GAS8-AS1 NR_122031.1(GAS8-AS1): n.692_693insCTGCGGGGCAGC insertion Likely benign rs769078996 GRCh38 Chromosome 16, 90029209: 90029210
49 FOXN1 NM_003593.2(FOXN1): c.146C> T (p.Ser49Leu) single nucleotide variant Likely pathogenic rs797046135 GRCh37 Chromosome 17, 26851543: 26851543
50 FOXN1 NM_003593.2(FOXN1): c.146C> T (p.Ser49Leu) single nucleotide variant Likely pathogenic rs797046135 GRCh38 Chromosome 17, 28524525: 28524525

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

Expression for Autism

Search GEO for disease gene expression data for Autism.

Pathways for Autism

Pathways related to Autism according to KEGG:

37
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514
2 Glutamatergic synapse hsa04724
3 Wnt signaling pathway hsa04310
4 mTOR signaling pathway hsa04150

Pathways related to Autism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.91 NLGN3 NLGN4X SHANK2

GO Terms for Autism

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.8 CHRNA1 NLGN3 NLGN4X PRR12 SHANK2
2 postsynaptic membrane GO:0045211 9.62 CHRNA1 NLGN4X PRR12 SHANK2
3 excitatory synapse GO:0060076 9.37 NLGN3 NLGN4X
4 spanning component of membrane GO:0089717 9.26 NLGN3 NLGN4X
5 asymmetric, glutamatergic, excitatory synapse GO:0098985 9.16 NLGN3 NLGN4X
6 synapse GO:0045202 9.1 CDKL5 CHRNA1 NLGN3 NLGN4X PRR12 SHANK2
7 symmetric, GABA-ergic, inhibitory synapse GO:0098983 8.96 NLGN3 NLGN4X

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 synaptic vesicle endocytosis GO:0048488 9.6 NLGN3 NLGN4X
2 neuronal action potential GO:0019228 9.59 CHRNA1 SCN2A
3 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.58 NLGN3 SHANK2
4 neuromuscular process GO:0050905 9.58 CHRNA1 MECP2
5 excitatory postsynaptic potential GO:0060079 9.58 CHRNA1 MECP2 NLGN3
6 positive regulation of excitatory postsynaptic potential GO:2000463 9.57 NLGN3 SHANK2
7 axon extension GO:0048675 9.56 AUTS2 NLGN3
8 positive regulation of dendritic spine development GO:0060999 9.55 CDKL5 SHANK2
9 regulation of AMPA receptor activity GO:2000311 9.54 NLGN3 SHANK2
10 synapse assembly GO:0007416 9.54 MECP2 NLGN3 SHANK2
11 neuron cell-cell adhesion GO:0007158 9.52 NLGN3 NLGN4X
12 presynapse assembly GO:0099054 9.51 NLGN3 NLGN4X
13 long-term synaptic potentiation GO:0060291 9.5 MECP2 NLGN3 SHANK2
14 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.49 MECP2 NLGN3
15 presynaptic membrane assembly GO:0097105 9.48 NLGN3 NLGN4X
16 negative regulation of excitatory postsynaptic potential GO:0090394 9.46 NLGN3 NLGN4X
17 postsynaptic membrane assembly GO:0097104 9.43 NLGN3 NLGN4X
18 adult behavior GO:0030534 9.43 NLGN3 NLGN4X SHANK2
19 vocalization behavior GO:0071625 9.33 NLGN3 NLGN4X SHANK2
20 learning GO:0007612 9.26 MECP2 NLGN3 NLGN4X SHANK2
21 social behavior GO:0035176 8.92 MECP2 NLGN3 NLGN4X SHANK2

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 for Autism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....