MCID: ATS364
MIFTS: 68

Autism

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

Aliases & Classifications for Autism

MalaCards integrated aliases for Autism:

Name: Autism 57 12 75 37 6 3 15 38 40 17
Autistic Disorder 57 12 44 15 72
Autistic Disorder of Childhood Onset 12 29 6
Autism Susceptibility 1 57 13
Childhood Autism 12 33
Kanner's Syndrome 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:
Inheritance multifactorial inheritance heterogeneous sporadic
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:12849
KEGG 37 H02111
ICD9CM 35 299.0
MeSH 44 D001321
NCIt 50 C97161
ICD10 33 F84.0
MedGen 42 C0004352
UMLS 72 C0004352

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 Levetiracetam and Methylphenidate 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.

CDC : 3 Autism spectrum disorder (ASD) is a developmental disability that can cause significant social, communication and behavioral challenges. There is often nothing about how people with ASD look that sets them apart from other people, but people with ASD may communicate, interact, behave, and learn in ways that are different from most other people. The learning, thinking, and problem-solving abilities of people with ASD can range from gifted to severely challenged. Some people with ASD need a lot of help in their daily lives; others need less.

KEGG : 37
Autism, also known as autistic spectrum disorder (ASD), is a common childhood onset neurodevelopmental disorder, characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviour. It is highly genetic and multifactorial, with many risk factors acting together. Several autism loci and genes have been identified. Large-effect rare mutations and small-effect common variants (Autism susceptibility, AUTS) contribute to risk.

Wikipedia : 75 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 Rare Disease with Autism

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

(show top 50) (show all 1358)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 35.9 SCN2A PTEN NLGN4X NLGN3 MBD5
2 pervasive developmental disorder 34.4 NLGN4X NLGN3 CDKL5
3 visual epilepsy 31.0 SCN2A GSPT2 CHRNA1 CDKL5
4 christianson syndrome 30.5 MBD5 CDKL5
5 autism 16 12.7
6 autism 15 12.6
7 autism 17 12.6
8 autism x-linked 1 12.6
9 autism x-linked 3 12.6
10 atypical autism 12.6
11 autism 18 12.6
12 autism x-linked 2 12.6
13 autism x-linked 5 12.6
14 intellectual developmental disorder with autism and speech delay 12.6
15 autism x-linked 4 12.6
16 macrocephaly/autism syndrome 12.6
17 autism x-linked 6 12.6
18 autism 6 12.6
19 autism 3 12.6
20 autism 7 12.6
21 autism 11 12.6
22 autism 12 12.6
23 autism 13 12.6
24 autism 8 12.6
25 autism 19 12.5
26 autism 10 12.5
27 autism 9 12.5
28 developmental delay with or without dysmorphic facies and autism 12.5
29 adnp-related intellectual disability and autism spectrum disorder 12.2
30 rett syndrome 12.1
31 autism with port-wine stain 12.1
32 rare disease with autism 12.1
33 autism-facial port-wine stain syndrome 12.1
34 adnp syndrome 12.0
35 chromosome 15q11-q13 duplication syndrome 12.0
36 branched-chain keto acid dehydrogenase kinase deficiency 12.0
37 16p11.2 duplication 11.9
38 arthrogryposis, mental retardation, and seizures 11.8
39 asperger syndrome 11.8
40 mental retardation, autosomal dominant 26 11.8
41 helsmoortel-van der aa syndrome 11.8
42 intellectual disability-severe speech delay-mild dysmorphism syndrome 11.8
43 16p11.2 deletion syndrome 11.7
44 asperger syndrome, x-linked 1 11.6
45 asperger syndrome, x-linked 2 11.6
46 fragile x syndrome 11.6
47 childhood disintegrative disease 11.6
48 pilarowski-bjornsson syndrome 11.6
49 syngap1-related non-syndromic intellectual disability 11.6
50 timothy syndrome 11.6

Graphical network of the top 20 diseases related to Autism:



Diseases related to Autism

Symptoms & Phenotypes for Autism

Human phenotypes related to Autism:

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
impaired social interactions
lack of spontaneous play
impaired ability to form peer relationships
inflexible adherence to routines or rituals
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
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

Drugs & Therapeutics for Autism

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

(show top 50) (show all 457)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
4
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
5
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
6
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
7
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
8
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
9
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
10
Metformin Approved Phase 4 657-24-9 4091 14219
11
Codeine Approved, Illicit Phase 4 76-57-3 5284371
12
Ibuprofen Approved Phase 4 15687-27-1 3672
13
Memantine Approved, Investigational Phase 4 19982-08-2 4054
14
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
15
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
16
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
17
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
18
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
19
Ziprasidone Approved Phase 4 146939-27-7 60854
20
Choline Approved, Nutraceutical Phase 4 62-49-7 305
21
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
22
Inulin Approved, Investigational, Nutraceutical Phase 4 9005-80-5 24763
23
Melatonin Approved, Nutraceutical, Vet_approved Phase 4 73-31-4 896
24 Antibodies Phase 4
25 gamma-Globulins Phase 4
26 Immunoglobulins Phase 4
27 Immunoglobulins, Intravenous Phase 4
28 Rho(D) Immune Globulin Phase 4
29 Central Nervous System Depressants Phase 4
30 Adrenergic Agents Phase 4
31 Atomoxetine Hydrochloride Phase 4
32 Serotonin Uptake Inhibitors Phase 4
33 Antihypertensive Agents Phase 4
34 N-monoacetylcystine Phase 4
35 Antidotes Phase 4
36 Respiratory System Agents Phase 4
37 Expectorants Phase 4
38 Antiviral Agents Phase 4
39 Antimanic Agents Phase 4
40 cysteine Phase 4
41 Analgesics Phase 4
42 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
43 Analgesics, Non-Narcotic Phase 4
44 Adrenergic Agonists Phase 4
45 Adrenergic alpha-2 Receptor Agonists Phase 4
46 Adrenergic alpha-Agonists Phase 4
47 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
48 Antitussive Agents Phase 4
49 Antirheumatic Agents Phase 4
50 Narcotics Phase 4

Interventional clinical trials:

(show top 50) (show all 1175)
# Name Status NCT ID Phase Drugs
1 A Multinational, Multicenter, Open-label, Single-arm Study to Evaluate the Efficacy and Safety of Aripiprazole in Asian Pediatric Patients With Autism Spectrum Disorder and Behavior Problems Unknown status NCT02069977 Phase 4 Aripiprazole
2 A Phase IV, Single-site, Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
3 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
4 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Unknown status NCT02940574 Phase 4 Syntocinon (Oxytocin)
5 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) - a Placebo Controlled Double-blind Cross-over-study Unknown status NCT00393614 Phase 4 levetiracetam
6 A Randomized, Double-blind Comparison of Atomoxetine Hydrochloride and Placebo for Symptoms of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Autism Spectrum Disorder Completed NCT00380692 Phase 4 Atomoxetine;Placebo
7 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
8 Safety and Efficacy of Aripiprazole in the Long-term Maintenance Treatment of Pediatric Patients With Irritability Associated With Autistic Disorder Completed NCT01227668 Phase 4 Aripiprazole;Placebo
9 Pilot Study of the Effect of Aripiprazole Treatment in Autism Spectrum Disorders on Functional Magnetic Resonance Imaging (fMRI) Activation Patterns and Symptoms Completed NCT01028820 Phase 4 Aripiprazole
10 Biomarkers in Autism of Aripiprazole and Risperidone Treatment Completed NCT01333072 Phase 4 Aripiprazole;Risperidone
11 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
12 Open-Label Treatment Trial to Assess the Short-Term Tolerability, Safety, and Efficacy of Methylphenidate Hydrochloride Extended-Release Liquid Formulation in High-Functioning Autism Spectrum Disorder Adults With Attention-Deficit/Hyperactivity Disorder Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
13 Divalproex Sodium ER in Adult Autism Completed NCT00211796 Phase 4 Divalproex Sodium ER
14 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
15 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
16 Risperidone in the Treatment of Children and Adolescents With Autistic Disorder: A Double-Blind, Placebo-Controlled Study of Efficacy and Safety, Followed by an Open-Label Extension Study of Safety Completed NCT00576732 Phase 4 Placebo;Risperidone high dose;Risperidone low dose
17 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
18 Quillivant XR in Children With Attention Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD): A Pilot Study Completed NCT02255565 Phase 4 Very Low Dose Quillivant XR;Low Dose Quillivant XR;Moderate Dose Quillivant XR
19 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
20 Treatment of Childhood Regressive Autism With Minocycline: an Anti-Inflammatory Agent Active Within the CNS Completed NCT00409747 Phase 4 Minocycline
21 Evaluation of Growth, Sexual Maturation, and Prolactin-Related Adverse Events in the Pediatric Population Exposed to Atypical Antipsychotic Drugs Completed NCT01050582 Phase 4 Risperidone;Other atypical antipsychotic drugs
22 Methylphenidate Study in Young Children With Developmental Disorders Completed NCT00517504 Phase 4 Methylphenidate
23 An Open Label Pilot Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behavior Problems in Children and Adolescents With Autistic Spectrum Disorders Completed NCT00485849 Phase 4 Atomoxetine Hydrochloride
24 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
25 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
26 A Prospective Open-label Trial of Metformin for Weight Control of Pediatric Patients on Atypical Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
27 A Sixteen-Week, Randomized, Double Blind, Placebo-Controlled Evaluation of the Efficacy, Tolerability and Safety of Memantine Hydrochloride on Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
28 Double Blind Placebo Controlled Study of Depakote (Divalproex Sodium) in Children With Temper Outbursts and Severe Mood Swings Completed NCT02078596 Phase 4 Divalproex
29 Efficacy and Security of Combined Analgesia (Opioid and Anti-inflammatory Agent) to Control Pain in Children Seen in the Emergency Department for a Trauma of a Limb Completed NCT01189773 Phase 4 ibuprofen and codeine
30 Language-based Learning Skills and ADHD: Impact of Treatment With Sustained-release Guanfacine Completed NCT01146002 Phase 4 Guanfacine (sustained release)
31 Improving Driving in Young People With Autism Spectrum Disorders Recruiting NCT03538431 Phase 4 Buspirone
32 An Open-Label Clinical Trial Conducted Via Telepsychiatry of Complementary and Alternative Treatments (Omega-3 Fatty Acids and Inositol vs. N-acetylcysteine) for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) Recruiting NCT03757585 Phase 4 Open-label Treatment with Omega-3 Fatty Acids + Inositol;Open-label Treatment with N-acetylcysteine
33 A Multi-Center, Open Label, Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
34 Randomized Double-blind Placebo-controlled Trial of Memantine Hydrochloride for the Treatment of Childhood-onset Epileptic Encephalopathies Recruiting NCT03779672 Phase 4 Memantine Hydrochloride 10 mg
35 An Oral Amoxicillin-Clavulanate Regimen to Prevent Bacteremia Following Recruiting NCT02783404 Phase 4 Amoxicillin;Amoxicillin-Potassium Clavulanate
36 Prebiotic Treatment in People With Schizophrenia Recruiting NCT03617783 Phase 4 Prebiotin;Placebo
37 Clinical Utility of Pharmacogenomics of Psychotropic Medications Recruiting NCT03907124 Phase 4 Genetically-guided treatment with FDA-approved psychotropic drugs;Treatment as usual (TAU)
38 Connecting the Dots: An RCT Integrating Standardized ASD Screening, High-Quality Treatment, and Long-Term Outcomes Enrolling by invitation NCT03333629 Phase 4
39 Controlled-Release Melatonin (Melatonin CR)for the Treatment of Impaired Sleep Maintenance (ISM) in 4-8 Year Old Children With Autism Spectrum Disorders (ASD). Terminated NCT01033565 Phase 4 Natrol
40 1/2-MC4R Genotype and Pediatric Antipsychotic Drug- Induced Weight Gain Terminated NCT01844700 Phase 4 Ziprasidone;aripiprazole, quetiapine, or risperidone
41 Valproate Response in Aggressive Autistic Adolescents Unknown status NCT00065884 Phase 3 Valproate
42 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
43 Behavioral and Biochemical Mechanisms of Self-Injury Unknown status NCT00065936 Phase 3 Naltrexone hydrochloride
44 Group Psychoeducational Program for Mothers of Preschool Children With High Functional Pervasive Developmental Disorders: a Randomized Controlled Trial Unknown status NCT01243905 Phase 2, Phase 3
45 Effect of Probiotics on Central Nervous System Functions in Humans Unknown status NCT02793193 Phase 2, Phase 3 Antibiotic
46 Study Of Fluoxetine In Autism: A Randomised, Double-Blind, Placebo-Controlled, Parallel-Group 14-Week Study To Investigate The Effect Of Fluoxetine Orally Dissolving Tablet (ODT) On Repetitive Behaviors In Childhood And Adolescent Autistic Disorder. Completed NCT00515320 Phase 3 Fluoxetine;Placebo
47 A Phase III, Randomized, Double-Blind, Placebo-Controlled, Multiple Dose Study to Assess the Efficacy, Safety and Tolerability of RG1068 (Synthetic Human Secretin) in Children With Autism Completed NCT00036244 Phase 3 RG1068 (Synthetic Human Secretin)
48 A Prospective, Open-Label Study of Paliperidone ER in Adolescents and Young Adults With Autism Completed NCT00549562 Phase 3 Paliperidone ER
49 A Randomized, Double-Blind, Placebo-Controlled, Cross-Over Pilot Study of Riluzole for Drug-Refractory Irritability in Autism Spectrum Disorders Completed NCT02081027 Phase 2, Phase 3 Riluzole;placebo
50 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3

Search NIH Clinical Center for Autism

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Fenfluramine
Fenfluramine Hydrochloride
quetiapine
Quetiapine fumarate
Risperidone
venlafaxine
Venlafaxine hydrochloride

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, Amygdala, Cerebellum, Prefrontal Cortex
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 30589)
# Title Authors PMID Year
1
Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients. 9 38 8
9254854 1997
2
Single-cell genomics identifies cell type-specific molecular changes in autism. 38 8
31097668 2019
3
Paternally inherited cis-regulatory structural variants are associated with autism. 38 8
29674594 2018
4
Infant viewing of social scenes is under genetic control and is atypical in autism. 38 8
28700580 2017
5
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism. 38 8
27919067 2016
6
The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring. 38 8
26822608 2016
7
The contribution of de novo coding mutations to autism spectrum disorder. 38 8
25363768 2014
8
Synaptic, transcriptional and chromatin genes disrupted in autism. 38 8
25363760 2014
9
The familial risk of autism. 38 8
24794370 2014
10
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. 38 8
24768552 2014
11
De novo SCN2A splice site mutation in a boy with Autism spectrum disorder. 38 8
24650168 2014
12
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. 38 8
24094742 2013
13
Transmission disequilibrium of small CNVs in simplex autism. 38 8
24035194 2013
14
Topoisomerases facilitate transcription of long genes linked to autism. 38 8
23995680 2013
15
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 38 8
23849776 2013
16
Intellectual disability is associated with increased runs of homozygosity in simplex autism. 38 8
23830515 2013
17
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 38 71
23519317 2013
18
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. 38 8
23375656 2013
19
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. 38 8
23352160 2013
20
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 38 8
23160955 2012
21
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility. 38 71
22865819 2012
22
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. 38 8
22726847 2012
23
Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. 38 8
22578327 2012
24
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 38 8
22495306 2012
25
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 38 8
22495309 2012
26
Patterns and rates of exonic de novo mutations in autism spectrum disorders. 38 8
22495311 2012
27
Rare deletions at the neurexin 3 locus in autism spectrum disorder. 38 8
22209245 2012
28
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. 38 8
21424692 2011
29
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 38 8
21658581 2011
30
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 38 8
21572417 2011
31
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. 38 8
21658583 2011
32
Transcriptomic analysis of autistic brain reveals convergent molecular pathology. 38 8
21614001 2011
33
Mitochondrial dysfunction in autism. 38 8
21119085 2010
34
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. 38 8
21055719 2010
35
Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. 38 8
20587423 2010
36
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. 38 8
20797689 2010
37
Functional impact of global rare copy number variation in autism spectrum disorders. 38 8
20531469 2010
38
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. 38 8
20071347 2010
39
Autism. 38 8
19819542 2009
40
A genome-wide linkage and association scan reveals novel loci for autism. 38 8
19812673 2009
41
Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland. 38 8
19454485 2009
42
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. 38 8
19456320 2009
43
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. 38 8
19404257 2009
44
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder. 38 8
19246517 2009
45
Common genetic variants on 5p14.1 associate with autism spectrum disorders. 38 8
19404256 2009
46
Disruption of contactin 4 in three subjects with autism spectrum disorder. 38 8
18349135 2009
47
The DLX1and DLX2 genes and susceptibility to autism spectrum disorders. 38 8
18728693 2009
48
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 38 8
18698615 2008
49
Development and validation of a measure of dysmorphology: useful for autism subgroup classification. 38 8
18383511 2008
50
Structural variation of chromosomes in autism spectrum disorder. 38 8
18252227 2008

Variations for Autism

ClinVar genetic disease variations for Autism:

6 (show top 50) (show all 166)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN2A NM_001040142.2(SCN2A): c.2229_2230del (p.Lys743fs) deletion Pathogenic rs1057518658 2:166187919-166187920 2:165331409-165331410
2 GSPT2 NM_018094.5(GSPT2): c.1021G> A (p.Val341Ile) single nucleotide variant Pathogenic rs1057519440 X:51487743-51487743 X:51744647-51744647
3 PRR12 NM_020719.3(PRR12): c.1918G> T (p.Glu640Ter) single nucleotide variant Pathogenic rs1555740650 19:50099510-50099510 19:49596253-49596253
4 PRR12 NM_020719.3(PRR12): c.4502_4505del (p.Leu1501fs) deletion Pathogenic rs1555741826 19:50104904-50104907 19:49601647-49601650
5 PRR12 NM_020719.3(PRR12): c.903_909dup (p.Pro304fs) duplication Pathogenic rs1555740394 19:50098491-50098492 19:49595234-49595235
6 subset of 1240 genes:ABCD1 ; ACSL4 ; AFF2 ; ANOS1 ; AP1S2 ; AR ; ARHGEF9 ; ARSL ; ARX ; ATP7A ; ATRX ; AVPR2 ; BCOR ; BRWD3 ; BTK ; CASK ; CCNQ ; CDKL5 ; CHM ; CHRDL1 ; CLCN4 ; CLCN5 ; CNKSR2 ; COL4A5 ; CUL4B ; CYBB ; DCX ; DDX3X ; DKC1 ; DLG3 ; DMD ; EBP ; EDA ; EFNB1 ; F8 ; F9 ; FANCB ; FGD1 ; FLNA ; FMR1 ; FRMD7 ; FTSJ1 ; GDI1 ; GK ; GLA ; GPC3 ; GRIA3 ; HCCS ; HDAC8 ; HPRT1 ; IDS ; IKBKG ; IL1RAPL1 ; IQSEC2 ; KDM5C ; KDM6A ; L1CAM ; LAMP2 ; MAGT1 ; MAOA ; MECP2 ; MID1 ; MTM1 ; NDP ; NEXMIF ; NHS ; NLGN4X ; NR0B1 ; NSDHL ; NXF5 ; NYX ; OCRL ; OFD1 ; OPHN1 ; OTC ; PAK3 ; PCDH19 ; PDHA1 ; PGK1 ; PHEX ; PHF6 ; PHF8 ; PIGA ; PLP1 ; PORCN ; PQBP1 ; PRPS1 ; PTCHD1 ; RAB39B ; RP2 ; RPS6KA3 ; RS1 ; SH2D1A ; SHOX ; SLC16A2 ; SLC35A2 ; SLC6A8 ; SLC9A6 ; SMC1A ; SMS ; SOX3 ; STS ; SYN1 ; SYP ; TBX22 ; TIMM8A ; TMLHE ; TRAPPC2 ; TSPAN7 ; UBE2A ; UPF3B ; USP9X ; WDR45 ; XIAP ; XIST ; ZC4H2 ; ZDHHC9 ; ZIC3 ; ZNF41 ; ZNF674 ; ZNF711 duplication Pathogenic
7 subset of 24 genes:MAGEL2 ; SNURF ; UBE3A GRCh37/hg19 15q11.2-13.1(chr15: 23810397-29213787) copy number gain Pathogenic 15:23810397-29213787 :0-0
8 covers 79 genes, none of which curated to show dosage sensitivity GRCh37/hg19 8p23.1-21.2(chr8: 12580104-25947329) copy number gain Pathogenic 8:12580104-25947329 :0-0
9 subset of 17 genes:CSMD1 GRCh37/hg19 8p23.3-23.1(chr8: 194617-6816918) copy number loss Pathogenic 8:194617-6816918 :0-0
10 PNPLA4 ; PUDP ; STS ; VCX GRCh37/hg19 Xp22.31(chrX: 6488721-8097511) copy number loss Pathogenic X:6488721-8097511 :0-0
11 subset of 173 genes:MAGEL2 ; SNURF ; UBE3A duplication Pathogenic
12 CYFIP1 ; GOLGA6L1 ; GOLGA6L22 ; LOC112272575 ; LOC112272576 ; LOC283683 ; MIR4509-1 ; NIPA1 ; NIPA2 ; TUBGCP5 deletion Pathogenic
13 CYFIP1 ; GOLGA6L1 ; LOC112272575 ; LOC112272576 ; LOC283683 ; MIR4509-1 ; NIPA1 ; NIPA2 ; TUBGCP5 deletion Pathogenic
14 CYFIP1 ; GOLGA6L1 ; LOC112272575 ; LOC112272576 ; LOC283683 ; MIR4509-1 ; NIPA1 ; NIPA2 ; TUBGCP5 deletion Pathogenic
15 CYFIP1 ; LOC112272575 ; LOC112272576 ; LOC283683 ; NIPA1 ; NIPA2 ; TUBGCP5 deletion Pathogenic
16 CYFIP1 ; LOC112272575 ; LOC112272576 ; LOC283683 ; NIPA1 ; NIPA2 ; TUBGCP5 deletion Pathogenic
17 subset of 128 genes:MAGEL2 ; SNURF ; UBE3A duplication Pathogenic
18 covers 19 genes, none of which curated to show dosage sensitivity deletion Pathogenic
19 covers 19 genes, none of which curated to show dosage sensitivity deletion Pathogenic
20 covers 43 genes, none of which curated to show dosage sensitivity deletion Pathogenic
21 covers 16 genes, none of which curated to show dosage sensitivity duplication Pathogenic
22 subset of 45 genes:PRRT2 duplication Pathogenic
23 subset of 39 genes:PRRT2 deletion Pathogenic
24 subset of 33 genes:PRRT2 duplication Pathogenic
25 subset of 32 genes:PRRT2 duplication Pathogenic
26 subset of 23 genes:HNF1B deletion Pathogenic
27 subset of 82 genes:FLCN ; RAI1 duplication Pathogenic
28 subset of 86 genes:FLCN ; RAI1 deletion Pathogenic
29 subset of 32 genes:HNF1B deletion Pathogenic
30 MBD5 deletion Pathogenic
31 subset of 52 genes:TBX1 duplication Pathogenic
32 subset of 75 genes:TBX1 duplication Pathogenic
33 subset of 66 genes:TBX1 duplication Pathogenic
34 LOC110121071 ; LOC730100 ; MIR8485 ; NRXN1 deletion Pathogenic
35 LOC730100 ; NRXN1 deletion Pathogenic
36 subset of 36 genes:ELN duplication Pathogenic
37 CDKL5 NM_003159.2(CDKL5): c.183del (p.Met63fs) deletion Pathogenic rs62643608 X:18593511-18593511 X:18575391-18575391
38 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 5:176662864-176662864 5:177235863-177235863
39 PTEN NM_000314.7(PTEN): c.203A> G (p.Tyr68Cys) single nucleotide variant Pathogenic rs876660634 10:89685308-89685308 10:87925551-87925551
40 FOXP1 NM_032682.5(FOXP1): c.1348+1G> C single nucleotide variant Pathogenic 3:71026978-71026978 3:70977827-70977827
41 TCF20 NM_005650.3(TCF20): c.2594C> G (p.Ser865Ter) single nucleotide variant Pathogenic 22:42608718-42608718 22:42212712-42212712
42 TCF20 NM_005650.3(TCF20): c.1810_1811del (p.Val604fs) deletion Pathogenic 22:42609501-42609502 22:42213495-42213496
43 TMCO1 NM_019026.4(TMCO1): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic 1:165712409-165712409 1:165743172-165743172
44 BPTF NM_004459.7(BPTF): c.5715_5716del (p.Val1906fs) deletion Pathogenic 17:65914863-65914864 17:67918747-67918748
45 CHRNA1 NM_001039523.3(CHRNA1): c.1396G> A (p.Gly466Arg) single nucleotide variant Pathogenic/Likely pathogenic rs768407867 2:175612905-175612905 2:174748177-174748177
46 subset of 153 genes:SHOX ; SRY duplication Likely pathogenic
47 PCDH15 deletion Likely pathogenic
48 subset of 87 genes:TAF13 deletion Likely pathogenic
49 CNTN5 ; LINC02553 ; LINC02713 deletion Likely pathogenic
50 covers 84 genes, none of which curated to show dosage sensitivity deletion Likely pathogenic

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

GO Terms for Autism

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

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

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

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

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 NLGN4X NLGN3

Sources for Autism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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