MCID: ATS364
MIFTS: 70

Autism

Categories: Mental diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Autism

MalaCards integrated aliases for Autism:

Name: Autism 57 12 76 37 6 3 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 atypical autism. 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 Piracetam and Valproic Acid have been mentioned in the context of this disorder. Affiliated tissues include Umbilical Cord, brain and testes, and related phenotypes are autism and lack of spontaneous play

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 435)
# Related Disease Score Top Affiliating Genes
1 autism spectrum disorder 36.1 AUTS2 CNTNAP2 MECP2 NLGN3 NLGN4X SCN2A
2 atypical autism 35.3 NLGN3 NLGN4X
3 pervasive developmental disorder 34.7 AUTS2 CDKL5 CNTNAP2 MECP2 NLGN3 NLGN4X
4 asperger syndrome 34.3 MECP2 NLGN3 NLGN4X
5 pitt-hopkins syndrome 32.5 CDKL5 CNTNAP2
6 angelman syndrome 31.8 CDKL5 MECP2 SNRPN
7 west syndrome 31.1 CDKL5 MECP2 SCN2A
8 bruxism 31.0 CDKL5 MECP2
9 seizure disorder 30.9 CDKL5 GSPT2 MECP2 SCN2A
10 macrocephaly/autism syndrome 12.3
11 mental retardation with language impairment and with or without autistic features 12.3
12 autism 16 12.2
13 autism x-linked 1 12.2
14 autism x-linked 3 12.2
15 autism 15 12.2
16 autism 17 12.2
17 autism x-linked 5 12.2
18 autism 18 12.2
19 autism x-linked 4 12.2
20 autism x-linked 2 12.2
21 autism 5 12.2
22 autism x-linked 6 12.2
23 autism 6 12.2
24 autism 8 12.2
25 autism 3 12.2
26 autism 7 12.2
27 autism 11 12.2
28 autism 12 12.2
29 autism 13 12.2
30 autism 9 12.2
31 autism 10 12.1
32 autism 19 12.1
33 adnp-related intellectual disability and autism spectrum disorder 11.9
34 rett syndrome 11.8
35 autism with port-wine stain 11.7
36 autism-facial port-wine stain syndrome 11.7
37 16p11.2 duplication 11.6
38 mental retardation, autosomal dominant 26 11.5
39 trehalase deficiency 11.5 AUTS2 CDKL5 MECP2 NLGN3 NLGN4X SCN2A
40 adnp syndrome 11.5
41 chromosome 15q11-q13 duplication syndrome 11.5
42 branched-chain keto acid dehydrogenase kinase deficiency 11.5
43 arthrogryposis, mental retardation, and seizures 11.3
44 helsmoortel-van der aa syndrome 11.3
45 16p11.2 deletion syndrome 11.3
46 syngap1-related non-syndromic intellectual disability 11.3
47 timothy syndrome 11.2
48 fragile x syndrome 11.2
49 focal epilepsy 11.2 CDKL5 CNTNAP2 SCN2A
50 gait apraxia 11.2 CDKL5 MECP2

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

MGI Mouse Phenotypes related to Autism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.8 CDKL5 CNTNAP2 NLGN3

Drugs & Therapeutics for Autism

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

(show top 50) (show all 398)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Piracetam Approved, Investigational Phase 4 7491-74-9
2
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2 99-66-1 3121
3
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 129722-12-9 60795
4
Oxytocin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-56-6 439302 53477758
5
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
6
Riluzole Approved, Investigational Phase 4,Phase 2,Phase 3 1744-22-5 5070
7
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 19982-08-2 4054
8
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
9
Minocycline Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 10118-90-8 5281021
10
Acetylcholine Approved Phase 4,Phase 1 51-84-3 187
11
Ziprasidone Approved Phase 4,Phase 3,Phase 2 146939-27-7 60854
12
Guanfacine Approved, Investigational Phase 4,Not Applicable 29110-47-2 3519
13
Olanzapine Approved, Investigational Phase 4,Phase 2,Phase 3 132539-06-1 4585
14
Risperidone Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 106266-06-2 5073
15
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
16
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 113-45-1 4158
17
Donepezil Approved Phase 4,Phase 1,Phase 2 120014-06-4 3152
18
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Not Applicable 616-91-1 12035
19
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 73-31-4 896
20
Choline Approved, Nutraceutical Phase 4 62-49-7 305
21 Etiracetam Investigational Phase 4 33996-58-6
22 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Rho(D) Immune Globulin Phase 4,Phase 2
24 GABA Agents Phase 4,Phase 3,Phase 2
25 gamma-Globulins Phase 4,Phase 2
26 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Neuroprotective Agents Phase 4,Phase 2,Phase 3
28 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Nootropic Agents Phase 4,Phase 3,Phase 1,Phase 2
30 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Oxytocics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
34 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Phase 1
35 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
36 Antibodies Phase 4,Phase 2
37 Immunoglobulins Phase 4,Phase 2
38 Immunoglobulins, Intravenous Phase 4,Phase 2
39 Excitatory Amino Acid Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
40 Excitatory Amino Acids Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable
41 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
42 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
43 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
45 Antipsychotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Antimanic Agents Phase 4,Phase 3,Phase 2,Not Applicable
48 insulin Phase 4,Phase 2,Not Applicable
49 Respiratory System Agents Phase 4,Phase 2,Phase 3,Not Applicable
50 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 961)
# Name Status NCT ID Phase Drugs
1 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%
2 Study to Evaluate the Efficacy and Safety of Aripiprazole Unknown status NCT02069977 Phase 4 Aripiprazole
3 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) Unknown status NCT00393614 Phase 4 levetiracetam
4 Biomarkers in Autism of Aripiprazole and Risperidone Treatment (BAART) Completed NCT01333072 Phase 4 Aripiprazole;Risperidone
5 Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism Completed NCT02235467 Phase 4
6 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
7 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
8 Divalproex Sodium ER in Adult Autism Completed NCT00211796 Phase 4 Divalproex Sodium ER
9 Omega-3 Fatty Acids in Autism Spectrum Disorders Completed NCT01695200 Phase 4
10 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4 Aripiprazole
11 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
12 Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study Completed NCT02255565 Phase 4 Very Low Dose Quillivant XR;Low Dose Quillivant XR;Moderate Dose Quillivant XR
13 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 Minocycline to Treat Childhood Regressive Autism Completed NCT00409747 Phase 4 Minocycline
15 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
16 Phase IV Long-term Maintenance Study of Aripiprazole in the Treatment of Irritability Associated With Autistic Disorder Completed NCT01227668 Phase 4 Aripiprazole;Placebo
17 Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
18 A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD Completed NCT00485849 Phase 4 Atomoxetine Hydrochloride
19 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
20 Methylphenidate Study in Young Children With Developmental Disorders Completed NCT00517504 Phase 4 Methylphenidate
21 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
22 An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
23 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
24 Preemie Tots: A Pilot Study to Understand the Effects of Prematurity in Toddlerhood Completed NCT01683565 Phase 4 LCPUFA oil supplement
25 A Study to Evaluate the Safety of HIN1 Monovalent Vaccine (MEDI3414) in Children 2 to 17 Years of Age Completed NCT00946101 Phase 4
26 A Study to Evaluate the Safety of H1N1 Monovalent Vaccine (MEDI3414) in Healthy Adults Completed NCT00945893 Phase 4
27 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
28 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
29 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders Recruiting NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
30 Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders Enrolling by invitation NCT02940574 Phase 4 Syntocinon (Oxytocin)
31 Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes Enrolling by invitation NCT03333629 Phase 4
32 Improving Driving in Young People With Autism Spectrum Disorders Not yet recruiting NCT03538431 Phase 4 Buspirone
33 Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism Not yet recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
34 Melatonin CR for the Treatment of Impaired Sleep Maintenance in 4-8 Year Old Children With Autism Spectrum Disorders Terminated NCT01033565 Phase 4 Natrol
35 1/2-MC4R Genotype and Pediatric Antipsychotic Drug- Induced Weight Gain Terminated NCT01844700 Phase 4 Ziprasidone;aripiprazole, quetiapine, or risperidone
36 Improving Social Cognition for Adults With ASD by the Serious Game JeStiMulE Versus Controls Unknown status NCT02568631 Phase 2, Phase 3
37 Valproate Response in Aggressive Autistic Adolescents Unknown status NCT00065884 Phase 3 Valproate
38 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
39 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
40 Self-Injury: Diagnosis and Treatment Unknown status NCT00065936 Phase 3 Naltrexone hydrochloride
41 Group Psychoeducational Program for Mothers of Children With High Functional Pervasive Developmental Disorders Unknown status NCT01243905 Phase 2, Phase 3
42 A Trial of CM-AT in Children With Autism- Open Label Extension Study Completed NCT00912691 Phase 3 CM-AT
43 A Trial of CM-AT in Children With Autism Completed NCT00881452 Phase 3 CM-AT;Placebo
44 Parent-delivered Massage for Children With Autism Completed NCT01801696 Phase 2, Phase 3
45 A Trial of CM-AT in Children With Autism With All Levels of FCT (The Blum Study) Completed NCT02410902 Phase 3 CM-AT;PLACEBO
46 Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism Completed NCT00498173 Phase 3 Atomoxetine;Placebo
47 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3 Galantamine
48 Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12
49 Lurasidone Pediatric Autism Study Completed NCT01911442 Phase 3 Lurasidone 20 mg daily;Lurasidone;Placebo
50 Pharmacogenomics in Autism Treatment Completed NCT00584701 Phase 2, Phase 3 Risperidone

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, Bone Marrow, 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 4762)
# Title Authors Year
1
High efficiency classification of children with autism spectrum disorder. ( 29447214 )
2018
2
A comparison of functional academic and daily living skills in males with fragile X syndrome with and without autism. ( 29730505 )
2018
3
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
4
HLA-Ga8914bp Insertion and the KIR2DS1-HLAC2 Complex Impact on Behavioral Impairment in Children with Autism Spectrum Disorders. ( 28627421 )
2018
5
Clinical trials in autism spectrum disorder: evidence, challenges and future directions. ( 29389748 )
2018
6
<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
7
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
8
Comparing Attention to Socially-Relevant Stimuli in Autism Spectrum Disorder and Developmental Coordination Disorder. ( 29313185 )
2018
9
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
10
Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism. ( 29352035 )
2018
11
Correction to: Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study. ( 29450835 )
2018
12
Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability. ( 29450820 )
2018
13
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
14
Do autism spectrum disorder and anorexia nervosa have some eating disturbances in common? ( 29974245 )
2018
15
Comparison of Spontaneously Elicited Language Patterns in Specific Language Impairment and High-Functioning Autism. ( 29289438 )
2018
16
Association of Prenatal Ultrasonography and Autism Spectrum Disorder. ( 29435580 )
2018
17
Prenatal Ultrasonography and the Incidence of Autism Spectrum Disorder. ( 29435566 )
2018
18
Pulling back the curtain: Issues in conducting an intervention study with transition-aged youth with autism spectrum disorder and their families. ( 29439586 )
2018
19
Social Interactions Between 24-Month-Old Children and Their Older Sibling with Autism Spectrum Disorder: Characteristics and Association with Social-Communicative Development. ( 29971663 )
2018
20
Pathophysiological and neurobehavioral characteristics of a propionic acid-mediated autism-like rat model. ( 29447237 )
2018
21
Early motor signs of autism spectrum disorder in spontaneous position and movement of the head. ( 29450616 )
2018
22
Early diagnosis and intervention for autism spectrum disorder in Africa: insights from a case study. ( 29977267 )
2018
23
Sensory Sensitivity and Food Selectivity in Children with Autism Spectrum Disorder. ( 29116421 )
2018
24
No Evidence Against Sketch Reinstatement of Context, Verbal Labels or the Use of Registered Intermediaries for Children with Autism Spectrum Disorder: Response to Henry et al. (2017). ( 29442201 )
2018
25
Brief Report: Physical Activity, Body Mass Index and Arterial Stiffness in Children with Autism Spectrum Disorder: Preliminary Findings. ( 29119519 )
2018
26
Discriminating autism and language impairment and specific language impairment through acuity of musical imagery. ( 29913330 )
2018
27
Sensory and motor differences in Autism Spectrum Conditions and developmental coordination disorder in children: A cross-syndrome study. ( 29408162 )
2018
28
Negative emotional face perception is diminished on a very early level of processing in autism spectrum disorder. ( 29451074 )
2018
29
Combined fetal inflammation and postnatal hypoxia causes myelin deficits and autism-like behavior in a rat model of diffuse white matter injury. ( 28925578 )
2018
30
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. ( 29558884 )
2018
31
Nature of motor impairments in autism spectrum disorder: A comparison with developmental coordination disorder. ( 29923455 )
2018
32
Genetic analysis of very obese children with autism spectrum disorder. ( 29327328 )
2018
33
An interview-informed synthesized contingency analysis to inform the treatment of challenging behavior in a young child with autism. ( 29446700 )
2018
34
Simvastatin as an Adjunctive Therapy to Risperidone in Treatment of Autism: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial. ( 28719227 )
2018
35
Challenges and Successful Pedagogical Strategies: Experiences from Six Swedish Students with Blindness and Autism in Different School Settings. ( 29080033 )
2018
36
Time and Narrative: An Investigation of Storytelling Abilities in Children With Autism Spectrum Disorder. ( 29971024 )
2018
37
Differential vocational rehabilitation service patterns and outcomes for transition-age youth with autism. ( 29441662 )
2018
38
Gaze avoidance and perseverative language in fragile X syndrome and autism spectrum disorder: brief report. ( 29333915 )
2018
39
Idiosyncratic organization of cortical networks in autism spectrum disorder. ( 29355768 )
2018
40
Association of Maternal Use of Folic Acid and Multivitamin Supplements in the Periods Before and During Pregnancy With the Risk of Autism Spectrum Disorder in Offspring. ( 29299606 )
2018
41
Presentation and Correlates of Hoarding Behaviors in Children with Autism Spectrum Disorders and Comorbid Anxiety or Obsessive-Compulsive Symptoms. ( 29974314 )
2018
42
Differences in fecal microbial metabolites and microbiota of children with autism spectrum disorders. ( 29274915 )
2018
43
Assessing Autism in Adults: An Evaluation of the Developmental, Dimensional and Diagnostic Interview-Adult Version (3Di-Adult). ( 29116420 )
2018
44
Diagnostic Accuracy of International Epidemiology Network (INCLEN) Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) in Comparison with Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5). ( 29978815 )
2018
45
Prevalence of antibodies against Borna disease virus proteins in Japanese children with autism spectrum disorder. ( 29786872 )
2018
46
Evaluating Web-based Educational Modules on Genetic Testing for Autism among Parents of Children with Autism. ( 29973306 )
2018
47
Associations among maternal pre-pregnancy body mass index, gestational weight gain and risk of autism in the Han Chinese population. ( 29343227 )
2018
48
Selective patient and public involvement: The promise and perils of pharmaceutical intervention for autism. ( 29090494 )
2018
49
Happiness, self-esteem, and prosociality in children with and without autism spectrum disorder: Evidence from a UK population cohort study. ( 29979489 )
2018
50
A meta-analysis of the association between vocalizations and expressive language in children with autism spectrum disorder. ( 29195157 )
2018

Variations for Autism

ClinVar genetic disease variations for Autism:

6
(show top 50) (show all 65)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDKL5 NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs) deletion Pathogenic rs62643608 GRCh37 Chromosome X, 18593511: 18593511
2 CDKL5 NM_003159.2(CDKL5): c.183delT (p.Met63Cysfs) deletion Pathogenic rs62643608 GRCh38 Chromosome X, 18575391: 18575391
3 LAMB3 NM_000228.2(LAMB3): c.133T> G (p.Ser45Ala) single nucleotide variant Uncertain significance rs796051883 GRCh38 Chromosome 1, 209650014: 209650014
4 LAMB3 NM_000228.2(LAMB3): c.133T> G (p.Ser45Ala) single nucleotide variant Uncertain significance rs796051883 GRCh37 Chromosome 1, 209823359: 209823359
5 MYBBP1A NM_001105538.1(MYBBP1A): c.139C> T (p.Gln47Ter) single nucleotide variant Uncertain significance rs758083465 GRCh37 Chromosome 17, 4458481: 4458481
6 MYBBP1A NM_001105538.1(MYBBP1A): c.139C> T (p.Gln47Ter) single nucleotide variant Uncertain significance rs758083465 GRCh38 Chromosome 17, 4555186: 4555186
7 NC_000016.10: g.19934233_19956257del22025 deletion Uncertain significance GRCh38 Chromosome 16, 19934233: 19956257
8 ALG1L2 NC_000003.12: g.130044540_130087902del43363 deletion Uncertain significance GRCh38 Chromosome 3, 130044540: 130087902
9 NC_000004.12: g.4106749_4157518del50770 deletion Uncertain significance GRCh38 Chromosome 4, 4106749: 4157518
10 SHANK2 NM_133266.4(SHANK2): c.689G> A (p.Arg230His) single nucleotide variant Conflicting interpretations of pathogenicity rs117843717 GRCh38 Chromosome 11, 70490374: 70490374
11 SHANK2 NM_133266.4(SHANK2): c.689G> A (p.Arg230His) single nucleotide variant Conflicting interpretations of pathogenicity rs117843717 GRCh37 Chromosome 11, 70336479: 70336479
12 NR4A2 NM_006186.3(NR4A2): c.357G> T (p.Ser119=) single nucleotide variant Benign rs797046133 GRCh37 Chromosome 2, 157186342: 157186342
13 NR4A2 NM_006186.3(NR4A2): c.357G> T (p.Ser119=) single nucleotide variant Benign rs797046133 GRCh38 Chromosome 2, 156329830: 156329830
14 ALDH1A3 NM_000693.3(ALDH1A3): c.1514T> C (p.Ile505Thr) single nucleotide variant Likely pathogenic rs797046134 GRCh37 Chromosome 15, 101454953: 101454953
15 ALDH1A3 NM_000693.3(ALDH1A3): c.1514T> C (p.Ile505Thr) single nucleotide variant Likely pathogenic rs797046134 GRCh38 Chromosome 15, 100914748: 100914748
16 GAS8-AS1 NR_122031.1(GAS8-AS1): n.692_693insCTGCGGGGCAGC insertion Likely benign rs769078996 GRCh37 Chromosome 16, 90095617: 90095618
17 GAS8-AS1 NR_122031.1(GAS8-AS1): n.692_693insCTGCGGGGCAGC insertion Likely benign rs769078996 GRCh38 Chromosome 16, 90029209: 90029210
18 FOXN1 NM_003593.2(FOXN1): c.146C> T (p.Ser49Leu) single nucleotide variant Likely pathogenic rs797046135 GRCh37 Chromosome 17, 26851543: 26851543
19 FOXN1 NM_003593.2(FOXN1): c.146C> T (p.Ser49Leu) single nucleotide variant Likely pathogenic rs797046135 GRCh38 Chromosome 17, 28524525: 28524525
20 UBE3A NM_000462.3(UBE3A): c.1432A> G (p.Met478Val) single nucleotide variant Uncertain significance rs864309507 GRCh38 Chromosome 15, 25370751: 25370751
21 UBE3A NM_000462.3(UBE3A): c.1432A> G (p.Met478Val) single nucleotide variant Uncertain significance rs864309507 GRCh37 Chromosome 15, 25615898: 25615898
22 AUTS2 NM_015570.3(AUTS2): c.3398_3400dupACC (p.His1133_Pro1134insHis) duplication Conflicting interpretations of pathogenicity rs538005366 GRCh38 Chromosome 7, 70790614: 70790616
23 AUTS2 NM_015570.3(AUTS2): c.3398_3400dupACC (p.His1133_Pro1134insHis) duplication Conflicting interpretations of pathogenicity rs538005366 GRCh37 Chromosome 7, 70255600: 70255602
24 FOXP1 NM_001244810.1(FOXP1): c.1348+2T> C single nucleotide variant Likely pathogenic rs1057518999 GRCh38 Chromosome 3, 70977826: 70977826
25 FOXP1 NM_001244810.1(FOXP1): c.1348+2T> C single nucleotide variant Likely pathogenic rs1057518999 GRCh37 Chromosome 3, 71026977: 71026977
26 IQSEC2 NM_001111125.2(IQSEC2): c.2854C> T (p.Gln952Ter) single nucleotide variant Likely pathogenic rs1057518993 GRCh37 Chromosome X, 53272549: 53272549
27 IQSEC2 NM_001111125.2(IQSEC2): c.2854C> T (p.Gln952Ter) single nucleotide variant Likely pathogenic rs1057518993 GRCh38 Chromosome X, 53243367: 53243367
28 SCN2A NM_001040142.1(SCN2A): c.2229_2230delAC (p.Lys743Asnfs) deletion Pathogenic rs1057518658 GRCh38 Chromosome 2, 165331409: 165331410
29 SCN2A NM_001040142.1(SCN2A): c.2229_2230delAC (p.Lys743Asnfs) deletion Pathogenic rs1057518658 GRCh37 Chromosome 2, 166187919: 166187920
30 GSPT2 NM_018094.4(GSPT2): c.1021G> A (p.Val341Ile) single nucleotide variant Pathogenic rs1057519440 GRCh37 Chromosome X, 51487743: 51487743
31 GSPT2 NM_018094.4(GSPT2): c.1021G> A (p.Val341Ile) single nucleotide variant Pathogenic rs1057519440 GRCh38 Chromosome X, 51744647: 51744647
32 PLXNA3 NM_017514.4(PLXNA3): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs149367480 GRCh37 Chromosome X, 153688737: 153688737
33 PLXNA3 NM_017514.4(PLXNA3): c.214G> A (p.Glu72Lys) single nucleotide variant Uncertain significance rs149367480 GRCh38 Chromosome X, 154460397: 154460397
34 SHANK2 NM_012309.4(SHANK2): c.1759C> T (p.Pro587Ser) single nucleotide variant Uncertain significance rs149996975 GRCh38 Chromosome 11, 70798461: 70798461
35 SHANK2 NM_012309.4(SHANK2): c.1759C> T (p.Pro587Ser) single nucleotide variant Uncertain significance rs149996975 GRCh37 Chromosome 11, 70644566: 70644566
36 SHANK2 NM_012309.4(SHANK2): c.1716C> T (p.Ile572=) single nucleotide variant Uncertain significance rs782240808 GRCh37 Chromosome 11, 70644609: 70644609
37 SHANK2 NM_012309.4(SHANK2): c.1716C> T (p.Ile572=) single nucleotide variant Uncertain significance rs782240808 GRCh38 Chromosome 11, 70798504: 70798504
38 SHANK2 NM_012309.4(SHANK2): c.1706G> A (p.Arg569His) single nucleotide variant Uncertain significance rs146580493 GRCh38 Chromosome 11, 70798514: 70798514
39 SHANK2 NM_012309.4(SHANK2): c.1706G> A (p.Arg569His) single nucleotide variant Uncertain significance rs146580493 GRCh37 Chromosome 11, 70644619: 70644619
40 SHANK2 NM_012309.4(SHANK2): c.1289C> T (p.Ala430Val) single nucleotide variant Uncertain significance rs113262375 GRCh38 Chromosome 11, 70820568: 70820568
41 SHANK2 NM_012309.4(SHANK2): c.1289C> T (p.Ala430Val) single nucleotide variant Uncertain significance rs113262375 GRCh37 Chromosome 11, 70666673: 70666673
42 SHANK2 NM_012309.4(SHANK2): c.1197G> A (p.Ala399=) single nucleotide variant Uncertain significance rs11237599 GRCh38 Chromosome 11, 70820660: 70820660
43 SHANK2 NM_012309.4(SHANK2): c.1197G> A (p.Ala399=) single nucleotide variant Uncertain significance rs11237599 GRCh37 Chromosome 11, 70666765: 70666765
44 SHANK3 NM_033517.1(SHANK3): c.206A> G (p.Asp69Gly) single nucleotide variant Uncertain significance rs1005062028 GRCh38 Chromosome 22, 50675190: 50675190
45 SHANK3 NM_033517.1(SHANK3): c.206A> G (p.Asp69Gly) single nucleotide variant Uncertain significance rs1005062028 GRCh37 Chromosome 22, 51113618: 51113618
46 SHANK3 NM_033517.1(SHANK3): c.3813C> T (p.Gly1271=) single nucleotide variant Uncertain significance rs367676023 GRCh37 Chromosome 22, 51160074: 51160074
47 SHANK3 NM_033517.1(SHANK3): c.3813C> T (p.Gly1271=) single nucleotide variant Uncertain significance rs367676023 GRCh38 Chromosome 22, 50721646: 50721646
48 SHANK3 NM_033517.1(SHANK3): c.4152C> T (p.Thr1384=) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 51160413: 51160413
49 SHANK3 NM_033517.1(SHANK3): c.4152C> T (p.Thr1384=) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 50721985: 50721985
50 SHANK3 NM_033517.1(SHANK3): c.4176C> G (p.Leu1392=) single nucleotide variant Uncertain significance rs906873431 GRCh37 Chromosome 22, 51160437: 51160437

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 11.49 CNTNAP2 NLGN3 NLGN4X
2 11.46 CNTNAP2 MECP2 SCN2A SHANK2
3
Show member pathways
11.25 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 9.77 CNTNAP2 NLGN3 NLGN4X PRR12 SHANK2
2 synapse GO:0045202 9.65 CDKL5 NLGN3 NLGN4X PRR12 SHANK2
3 excitatory synapse GO:0060076 9.32 NLGN3 NLGN4X
4 spanning component of membrane GO:0089717 9.16 NLGN3 NLGN4X
5 asymmetric, glutamatergic, excitatory synapse GO:0098985 8.96 NLGN3 NLGN4X
6 symmetric, GABA-ergic, inhibitory synapse GO:0098983 8.62 NLGN3 NLGN4X

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 synaptic vesicle endocytosis GO:0048488 9.58 NLGN3 NLGN4X
2 axon extension GO:0048675 9.57 AUTS2 NLGN3
3 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.56 NLGN3 SHANK2
4 adult behavior GO:0030534 9.56 CNTNAP2 NLGN3 NLGN4X SHANK2
5 positive regulation of excitatory postsynaptic potential GO:2000463 9.55 NLGN3 SHANK2
6 learning GO:0007612 9.55 CNTNAP2 MECP2 NLGN3 NLGN4X SHANK2
7 positive regulation of dendritic spine development GO:0060999 9.54 CDKL5 SHANK2
8 synapse assembly GO:0007416 9.54 MECP2 NLGN3 SHANK2
9 regulation of AMPA receptor activity GO:2000311 9.52 NLGN3 SHANK2
10 neuron cell-cell adhesion GO:0007158 9.51 NLGN3 NLGN4X
11 long-term synaptic potentiation GO:0060291 9.5 MECP2 NLGN3 SHANK2
12 regulation of respiratory gaseous exchange by neurological system process GO:0002087 9.49 MECP2 NLGN3
13 presynaptic membrane assembly GO:0097105 9.48 NLGN3 NLGN4X
14 presynapse assembly GO:0099054 9.46 NLGN3 NLGN4X
15 negative regulation of excitatory postsynaptic potential GO:0090394 9.43 NLGN3 NLGN4X
16 postsynaptic membrane assembly GO:0097104 9.4 NLGN3 NLGN4X
17 social behavior GO:0035176 9.35 CNTNAP2 MECP2 NLGN3 NLGN4X SHANK2
18 vocalization behavior GO:0071625 8.92 CNTNAP2 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
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