ASD
MCID: ATS007
MIFTS: 64

Autism Spectrum Disorder (ASD)

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

Aliases & Classifications for Autism Spectrum Disorder

MalaCards integrated aliases for Autism Spectrum Disorder:

Name: Autism Spectrum Disorder 12 53 25 29 6 43 44 15
Asd 53 25
Pervasive Developmental Disorder 25
Pervasive Development Disorder 73
Autism Spectrum Disorders 73
Autistic Continuum 25
Autistic Behavior 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0060041
MeSH 44 D000067877

Summaries for Autism Spectrum Disorder

MedlinePlus : 43 Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout a person's life. It affects how a person acts and interacts with others, communicates, and learns. It includes what used to be known as Asperger syndrome and pervasive developmental disorders. It is called a "spectrum" disorder because people with ASD can have a range of symptoms. People with ASD might have problems talking with you, or they might not look you in the eye when you talk to them. They may also have restricted interests and repetitive behaviors. They may spend a lot of time putting things in order, or they may say the same sentence again and again. They may often seem to be in their "own world." At well-child checkups, the health care provider should check your child's development. If there are signs of ASD, your child will have a comprehensive evaluation. It may include a team of specialists, doing various tests and evaluations to make a diagnosis. The causes of ASD are not known. Research suggests that both genes and environment play important roles. There is currently no one standard treatment for ASD. There are many ways to increase your child's ability to grow and learn new skills. Starting them early can lead to better results. Treatments include behavior and communication therapies, skills training, and medicines to control symptoms. NIH: National Institute of Child Health and Human Development

MalaCards based summary : Autism Spectrum Disorder, also known as asd, is related to autism and pervasive developmental disorder, and has symptoms including widespread abnormalities of social interactions, severely restricted interests and highly repetitive behavior. An important gene associated with Autism Spectrum Disorder is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways is Parkinsons Disease Pathway. The drugs Oxytocin and Donepezil have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye.

Disease Ontology : 12 A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has symptom widespread abnormalities of social interactions and communication, has symptom severely restricted interests and has symptom highly repetitive behavior.

Genetics Home Reference : 25 Autism spectrum disorder (ASD) is a condition that appears very early in childhood development, varies in severity, and is characterized by impaired social skills, communication problems, and repetitive behaviors. These difficulties can interfere with affected individuals' ability to function in social, academic, and employment settings. People with ASD also have an increased risk of psychiatric problems such as anxiety, depression, obsessive-compulsive disorder, and eating disorders.

NIH Rare Diseases : 53 Autism spectrum disorder (ASD) is a condition that affects the development of social and communication skills. It includes features of four conditions which were once thought to be separate syndromes - autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder. Signs and symptoms often become apparent in the first 2-3 years of life and vary significantly from person to person. Common symptoms shared by people with ASD include restrictive and repetitive behaviors, social impairment and communication difficulties. The underlying cause of ASD is generally unknown and it is likely that a variety of factors contribute to the development of the condition. ASD appears to run in some families, suggesting that genetics may play a role in some cases. Although there is no cure for ASD, treatment is available that significantly improves the long-term outlook for affected people. Treatment often includes a combination of techniques such as medications, occupational therapy, speech therapy and physical therapy.

NINDS : 54 Autistic disorder (sometimes called autism or classical ASD) is the most common condition in a group of developmental disorders known as the autism spectrum disorders (ASDs).   Autistic children have difficulties with social interaction, display problems with verbal and nonverbal communication, and exhibit repetitive behaviors or narrow, obsessive interests. These behaviors can range in impact from mild to disabling. Autism varies widely in its severity and symptoms and may go unrecognized, especially in mildly affected children or when more debilitating handicaps mask it. Scientists aren’t certain what causes autism, but it’s likely that both genetics and environment play a role.   Autism spectrum disorder is diagnosed based on symptoms, signs, and other testing according to the Diagnostic and Statistical Manual V, a guide created by the American Psychiatric Association to diagnose mental disorders. Children should be screened for developmental delays during periodic checkups and specifically for autism at 18- and 24-month well child visits.

Related Diseases for Autism Spectrum Disorder

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 Spectrum Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 367)
# Related Disease Score Top Affiliating Genes
1 autism 33.6 EHMT1 PTCHD1 RPL10 SHANK2
2 pervasive developmental disorder 33.4 PTCHD1 RPL10 SHANK2
3 muscular dystrophy, duchenne type 30.2 MIR146B MIR21 MIR432
4 adnp-related intellectual disability and autism spectrum disorder 12.4
5 patent foramen ovale 12.1
6 adnp syndrome 11.9
7 arthrogryposis, mental retardation, and seizures 11.8
8 helsmoortel-van der aa syndrome 11.8
9 asperger syndrome 11.7
10 anterior segment dysgenesis 11.6
11 atrial septal defect 1 11.6
12 timothy syndrome 11.5
13 childhood disintegrative disease 11.5
14 fragile x syndrome 11.5
15 atrial heart septal defect 11.4
16 specific language impairment 11.4
17 rett syndrome 11.4
18 speech and communication disorders 11.3
19 landau-kleffner syndrome 11.3
20 chromosome 15q13.3 deletion syndrome 11.3
21 atypical autism 11.3
22 16p11.2 duplication 11.3
23 interatrial communication 11.3
24 mental retardation, autosomal recessive 38 11.3
25 mental retardation, autosomal dominant 26 11.3
26 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.2
27 atrial septal defect 7 with or without atrioventricular conduction defects 11.2
28 atrial septal defect ostium primum 11.2
29 autism x-linked 4 11.2
30 epilepsy, familial focal, with variable foci 1 11.2
31 pitt-hopkins syndrome 11.2
32 specific language impairment 5 11.2
33 schaaf-yang syndrome 11.2
34 chromosome 15q11.2 deletion syndrome 11.2
35 syngap1-related intellectual disability 11.2
36 atrial septal defect coronary sinus 11.1
37 atrial septal defect sinus venosus 11.1
38 familial pulmonary arterial hypertension leucopenia and atrial septal defect 11.1
39 autism x-linked 1 11.0
40 autism x-linked 2 11.0
41 autism x-linked 3 11.0
42 autism x-linked 5 11.0
43 autism x-linked 6 11.0
44 chromosome 2q37 deletion syndrome 11.0
45 potocki-shaffer syndrome 11.0
46 athabaskan brainstem dysgenesis syndrome 11.0
47 macrocephaly/autism syndrome 11.0
48 autism 5 11.0
49 autism 8 11.0
50 autism 3 11.0

Graphical network of the top 20 diseases related to Autism Spectrum Disorder:



Diseases related to Autism Spectrum Disorder

Symptoms & Phenotypes for Autism Spectrum Disorder

Symptoms:

12
  • widespread abnormalities of social interactions
  • severely restricted interests
  • highly repetitive behavior

UMLS symptoms related to Autism Spectrum Disorder:


photophobia, restlessness, personality changes, pseudobulbar behavioral symptoms, sleep disturbances

Drugs & Therapeutics for Autism Spectrum Disorder

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

(show top 50) (show all 316)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxytocin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-56-6 439302 53477758
2
Donepezil Approved Phase 4,Phase 1,Phase 2 120014-06-4 3152
3
Acetylcholine Approved Phase 4,Phase 1 51-84-3 187
4
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
5
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
6
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 113-45-1 4158
7
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 19982-08-2 4054
8
Guanfacine Approved, Investigational Phase 4,Not Applicable 29110-47-2 3519
9
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
10
Acetylcysteine Approved, Investigational Phase 4,Phase 2 616-91-1 12035
11
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
12
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 106266-06-2 5073
13
Olanzapine Approved, Investigational Phase 4,Phase 2 132539-06-1 4585
14
Buspirone Approved, Investigational Phase 4,Phase 2,Not Applicable 36505-84-7 2477
15
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
16
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
17
Choline Approved, Nutraceutical Phase 4 62-49-7 305
18
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 73-31-4 896
19 Oxytocics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Vasodilator Agents Phase 4,Phase 2,Not Applicable,Early Phase 1
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
23 Nootropic Agents Phase 4,Phase 3,Phase 1,Phase 2
24 Cholinesterase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
25 Antimetabolites Phase 4,Phase 3
26 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
28 Lipid Regulating Agents Phase 4
29 Hypolipidemic Agents Phase 4
30 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
32 Antipsychotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
34 Immunologic Factors Phase 4,Phase 2
35 Immunoglobulins Phase 4
36 Immunoglobulins, Intravenous Phase 4
37 gamma-Globulins Phase 4
38 Antibodies Phase 4
39 Rho(D) Immune Globulin Phase 4
40 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
41 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
42 Omega 3 Fatty Acid Phase 4,Phase 2,Not Applicable
43 Dopamine Uptake Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
44 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
45 Central Nervous System Stimulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46 Antiviral Agents Phase 4,Phase 2
47 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
50 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 769)
# Name Status NCT ID Phase Drugs
1 Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders Unknown status NCT02940574 Phase 4 Syntocinon (Oxytocin)
2 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
3 Study to Evaluate the Efficacy and Safety of Aripiprazole Unknown status NCT02069977 Phase 4 Aripiprazole
4 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%
5 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
6 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4 Aripiprazole
7 Omega-3 Fatty Acids in Autism Spectrum Disorders Completed NCT01695200 Phase 4
8 Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
9 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
10 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
11 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;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 Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism Completed NCT02235467 Phase 4
14 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
15 Preemie Tots: A Pilot Study to Understand the Effects of Prematurity in Toddlerhood Completed NCT01683565 Phase 4 LCPUFA oil supplement
16 A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD Completed NCT00485849 Phase 4 Atomoxetine Hydrochloride
17 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
18 An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
19 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
20 Improving Driving in Young People With Autism Spectrum Disorders Recruiting NCT03538431 Phase 4 Buspirone
21 Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
22 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
23 Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes Enrolling by invitation NCT03333629 Phase 4
24 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
25 Melatonin CR for the Treatment of Impaired Sleep Maintenance in 4-8 Year Old Children With Autism Spectrum Disorders Terminated NCT01033565 Phase 4 Natrol
26 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
27 Group Psychoeducational Program for Mothers of Children With High Functional Pervasive Developmental Disorders Unknown status NCT01243905 Phase 2, Phase 3
28 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Completed NCT01972074 Phase 3 Memantine;Placebo
29 Pilot Study of Riluzole for Drug-Refractory Irritability in Autism Spectrum Disorders Completed NCT02081027 Phase 2, Phase 3 Riluzole;placebo
30 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
31 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
32 D-Cycloserine and Social Skills Training in Autism Spectrum Disorders Completed NCT01086475 Phase 3 D-cycloserine;Placebo
33 Folinic Acid in Autism Completed NCT03771560 Phase 2, Phase 3 folinic acid
34 Study of Aripiprazole in the Treatment of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
35 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
36 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
37 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3 risperidone
38 Supporting the Well Being of Families of Young Children With Autism Spectrum Disorders Completed NCT01021384 Phase 3
39 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00346736 Phase 3
40 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
41 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3
42 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3
43 A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms Completed NCT00541346 Phase 3 Methylphenidate Transdermal System
44 Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism Completed NCT00498173 Phase 3 Atomoxetine;Placebo
45 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
46 Pharmacogenomics in Autism Treatment Completed NCT00584701 Phase 2, Phase 3 Risperidone
47 Methylphenidate for Attention Deficit Hyperactivity Disorder and Autism in Children Completed NCT00178503 Phase 2, Phase 3 Methylphenidate-extended release;Methylphenidate-immediate release
48 Open Label Clinical Trial of Vitamin D in Children With Autism Completed NCT01535508 Phase 2, Phase 3 Liquid Vitamin D
49 Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12
50 Study of Paliperidone ER in Adolescents and Young Adults With Autism Completed NCT00549562 Phase 3 Paliperidone ER

Search NIH Clinical Center for Autism Spectrum Disorder

Cochrane evidence based reviews: autism spectrum disorder

Genetic Tests for Autism Spectrum Disorder

Genetic tests related to Autism Spectrum Disorder:

# Genetic test Affiliating Genes
1 Autism Spectrum Disorder 29 PTCHD1 RPL10 SHANK2

Anatomical Context for Autism Spectrum Disorder

MalaCards organs/tissues related to Autism Spectrum Disorder:

41
Brain, Testes, Eye, Cortex, Bone, Liver, Heart

Publications for Autism Spectrum Disorder

Articles related to Autism Spectrum Disorder:

(show top 50) (show all 3306)
# Title Authors Year
1
Perception of biological motions is preserved in people with autism spectrum disorder: electrophysiological and behavioural evidences. ( 30456855 )
2019
2
Child-present and child-themed marital conflict in daily life of parents of children with and without autism spectrum disorder. ( 30407023 )
2019
3
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
4
Clinical considerations for the inclusion of individuals with autism spectrum disorder in clinical trials. ( 30290207 )
2019
5
Children with Autism Spectrum Disorder, Developmental Coordination Disorder, and typical development differ in characteristics of dynamic postural control: A preliminary study. ( 30245240 )
2019
6
Modeling regional dynamics in low-frequency fluctuation and its application to Autism spectrum disorder diagnosis. ( 30248456 )
2019
7
Cannabidiol as a suggested candidate for treatment of autism spectrum disorder. ( 30171992 )
2019
8
Juvenile Shank3b deficient mice present with behavioral phenotype relevant to autism spectrum disorder. ( 30134148 )
2019
9
Exploring the relationship between fairness and 'brain types' in children with high-functioning autism spectrum disorder. ( 30009870 )
2019
10
Understanding facial expressivity in autism spectrum disorder: An inside out review of the biological basis and clinical implications. ( 29777730 )
2019
11
High efficiency classification of children with autism spectrum disorder. ( 29447214 )
2018
12
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
13
Clinical trials in autism spectrum disorder: evidence, challenges and future directions. ( 29389748 )
2018
14
<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
15
Comparing Attention to Socially-Relevant Stimuli in Autism Spectrum Disorder and Developmental Coordination Disorder. ( 29313185 )
2018
16
Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability. ( 29450820 )
2018
17
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
18
Do autism spectrum disorder and anorexia nervosa have some eating disturbances in common? ( 29974245 )
2018
19
Association of Prenatal Ultrasonography and Autism Spectrum Disorder. ( 29435580 )
2018
20
Prenatal Ultrasonography and the Incidence of Autism Spectrum Disorder. ( 29435566 )
2018
21
Pulling back the curtain: Issues in conducting an intervention study with transition-aged youth with autism spectrum disorder and their families. ( 29439586 )
2018
22
Social Interactions Between 24-Month-Old Children and Their Older Sibling with Autism Spectrum Disorder: Characteristics and Association with Social-Communicative Development. ( 29971663 )
2018
23
Early motor signs of autism spectrum disorder in spontaneous position and movement of the head. ( 29450616 )
2018
24
Early diagnosis and intervention for autism spectrum disorder in Africa: insights from a case study. ( 29977267 )
2018
25
Sensory Sensitivity and Food Selectivity in Children with Autism Spectrum Disorder. ( 29116421 )
2018
26
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
27
Brief Report: Physical Activity, Body Mass Index and Arterial Stiffness in Children with Autism Spectrum Disorder: Preliminary Findings. ( 29119519 )
2018
28
Negative emotional face perception is diminished on a very early level of processing in autism spectrum disorder. ( 29451074 )
2018
29
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. ( 29558884 )
2018
30
Nature of motor impairments in autism spectrum disorder: A comparison with developmental coordination disorder. ( 29923455 )
2018
31
Genetic analysis of very obese children with autism spectrum disorder. ( 29327328 )
2018
32
Time and Narrative: An Investigation of Storytelling Abilities in Children With Autism Spectrum Disorder. ( 29971024 )
2018
33
Gaze avoidance and perseverative language in fragile X syndrome and autism spectrum disorder: brief report. ( 29333915 )
2018
34
Idiosyncratic organization of cortical networks in autism spectrum disorder. ( 29355768 )
2018
35
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
36
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
37
Prevalence of antibodies against Borna disease virus proteins in Japanese children with autism spectrum disorder. ( 29786872 )
2018
38
Happiness, self-esteem, and prosociality in children with and without autism spectrum disorder: Evidence from a UK population cohort study. ( 29979489 )
2018
39
A meta-analysis of the association between vocalizations and expressive language in children with autism spectrum disorder. ( 29195157 )
2018
40
Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies using Retrospective Video Analysis. ( 29774230 )
2018
41
Erratum: A symptom-based approach to treatment of psychosis in autism spectrum disorder in October 2017-ERRATUM. ( 29971147 )
2018
42
Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome. ( 29321841 )
2018
43
Effects of Dance Movement Therapy on Adult Patients with Autism Spectrum Disorder: A Randomized Controlled Trial. ( 29966313 )
2018
44
Autism spectrum disorder in primary care. ( 29309380 )
2018
45
Emergency Medical Responders and Adolescents With Autism Spectrum Disorder. ( 29298245 )
2018
46
Selective mutism in a child with autism spectrum disorder: A case report and an approach to the management in such difficult to treat scenario in children. ( 29960134 )
2018
47
Attention deficit hyperactivity disorder and autism spectrum disorder symptoms in school-age children born very preterm. ( 29413425 )
2018
48
Autism Spectrum Disorder Traits in Typically Developing Emerging Adults and Associated Parenting: A Person-Centered Approach. ( 29447619 )
2018
49
Invited Commentary: Male Reproductive System Congenital Malformations and the Risk of Autism Spectrum Disorder. ( 29452336 )
2018
50
Increasing Nursing Students' Knowledge of Autism Spectrum Disorder by Using a Standardized Patient. ( 28639981 )
2018

Variations for Autism Spectrum Disorder

ClinVar genetic disease variations for Autism Spectrum Disorder:

6 (show top 50) (show all 273)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC1 NM_000368.4(TSC1): c.1079C> A (p.Thr360Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs118203493 GRCh37 Chromosome 9, 135786451: 135786451
2 TSC1 NM_000368.4(TSC1): c.1079C> A (p.Thr360Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs118203493 GRCh38 Chromosome 9, 132911064: 132911064
3 TSC2 NM_000548.4(TSC2): c.4285G> T (p.Ala1429Ser) single nucleotide variant Benign/Likely benign rs45474795 GRCh37 Chromosome 16, 2134508: 2134508
4 TSC2 NM_000548.4(TSC2): c.4285G> T (p.Ala1429Ser) single nucleotide variant Benign/Likely benign rs45474795 GRCh38 Chromosome 16, 2084507: 2084507
5 TSC1 NM_000368.4(TSC1): c.1342C> T (p.Pro448Ser) single nucleotide variant Benign/Likely benign rs118203518 GRCh37 Chromosome 9, 135782214: 135782214
6 TSC1 NM_000368.4(TSC1): c.1342C> T (p.Pro448Ser) single nucleotide variant Benign/Likely benign rs118203518 GRCh38 Chromosome 9, 132906827: 132906827
7 TSC1 NM_000368.4(TSC1): c.346T> G (p.Leu116Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199620268 GRCh37 Chromosome 9, 135800991: 135800991
8 TSC1 NM_000368.4(TSC1): c.346T> G (p.Leu116Val) single nucleotide variant Conflicting interpretations of pathogenicity rs199620268 GRCh38 Chromosome 9, 132925604: 132925604
9 TSC2 NM_000548.4(TSC2): c.2879C> T (p.Ser960Phe) single nucleotide variant not provided rs397514898 GRCh37 Chromosome 16, 2127640: 2127640
10 TSC2 NM_000548.4(TSC2): c.2879C> T (p.Ser960Phe) single nucleotide variant not provided rs397514898 GRCh38 Chromosome 16, 2077639: 2077639
11 TSC2 NM_000548.4(TSC2): c.2183G> T (p.Cys728Phe) single nucleotide variant Uncertain significance rs397514908 GRCh37 Chromosome 16, 2122327: 2122327
12 TSC2 NM_000548.4(TSC2): c.2183G> T (p.Cys728Phe) single nucleotide variant Uncertain significance rs397514908 GRCh38 Chromosome 16, 2072326: 2072326
13 TSC2 NM_000548.4(TSC2): c.1597A> C (p.Lys533Gln) single nucleotide variant not provided rs397515038 GRCh37 Chromosome 16, 2114426: 2114426
14 TSC2 NM_000548.4(TSC2): c.1597A> C (p.Lys533Gln) single nucleotide variant not provided rs397515038 GRCh38 Chromosome 16, 2064425: 2064425
15 TSC2 NM_000548.4(TSC2): c.2632C> T (p.Pro878Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs397515077 GRCh37 Chromosome 16, 2125886: 2125886
16 TSC2 NM_000548.4(TSC2): c.2632C> T (p.Pro878Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs397515077 GRCh38 Chromosome 16, 2075885: 2075885
17 TSC2 NM_000548.4(TSC2): c.190A> G (p.Ile64Val) single nucleotide variant Uncertain significance rs397515081 GRCh37 Chromosome 16, 2100452: 2100452
18 TSC2 NM_000548.4(TSC2): c.190A> G (p.Ile64Val) single nucleotide variant Uncertain significance rs397515081 GRCh38 Chromosome 16, 2050451: 2050451
19 TSC2 NM_000548.4(TSC2): c.5072T> C (p.Met1691Thr) single nucleotide variant Uncertain significance rs397515110 GRCh37 Chromosome 16, 2138052: 2138052
20 TSC2 NM_000548.4(TSC2): c.5072T> C (p.Met1691Thr) single nucleotide variant Uncertain significance rs397515110 GRCh38 Chromosome 16, 2088051: 2088051
21 TSC2 NM_000548.4(TSC2): c.2950G> C (p.Glu984Gln) single nucleotide variant not provided rs397515156 GRCh37 Chromosome 16, 2127711: 2127711
22 TSC2 NM_000548.4(TSC2): c.2950G> C (p.Glu984Gln) single nucleotide variant not provided rs397515156 GRCh38 Chromosome 16, 2077710: 2077710
23 TSC2 NM_000548.4(TSC2): c.5155G> A (p.Ala1719Thr) single nucleotide variant Uncertain significance rs201206500 GRCh37 Chromosome 16, 2138135: 2138135
24 TSC2 NM_000548.4(TSC2): c.5155G> A (p.Ala1719Thr) single nucleotide variant Uncertain significance rs201206500 GRCh38 Chromosome 16, 2088134: 2088134
25 TSC2 NM_000548.4(TSC2): c.2861A> G (p.Lys954Arg) single nucleotide variant not provided rs397515191 GRCh37 Chromosome 16, 2127622: 2127622
26 TSC2 NM_000548.4(TSC2): c.2861A> G (p.Lys954Arg) single nucleotide variant not provided rs397515191 GRCh38 Chromosome 16, 2077621: 2077621
27 TSC2 NM_000548.4(TSC2): c.3989C> T (p.Thr1330Met) single nucleotide variant Conflicting interpretations of pathogenicity rs397515209 GRCh37 Chromosome 16, 2133801: 2133801
28 TSC2 NM_000548.4(TSC2): c.3989C> T (p.Thr1330Met) single nucleotide variant Conflicting interpretations of pathogenicity rs397515209 GRCh38 Chromosome 16, 2083800: 2083800
29 TSC2 NM_000548.4(TSC2): c.454C> G (p.His152Asp) single nucleotide variant Uncertain significance rs397515285 GRCh37 Chromosome 16, 2104414: 2104414
30 TSC2 NM_000548.4(TSC2): c.454C> G (p.His152Asp) single nucleotide variant Uncertain significance rs397515285 GRCh38 Chromosome 16, 2054413: 2054413
31 TPTE NM_199261.3(TPTE): c.1357-3_1357-2delTA deletion Uncertain significance rs149363218 GRCh37 Chromosome 21, 10910401: 10910402
32 TPTE NM_199261.3(TPTE): c.1357-3_1357-2delTA deletion Uncertain significance rs149363218 GRCh38 Chromosome 21, 10602055: 10602056
33 Likely pathogenic 19p13.12 duplication duplication 0 rsRCV000172927;RCV000172927 189393
34 Likely pathogenic 19p13.12 duplication duplication 0 rsRCV000172927;RCV000172927 189393
35 EHMT1 NM_024757.4(EHMT1): c.3413G> A (p.Trp1138Ter) single nucleotide variant Pathogenic rs886037776 GRCh38 Chromosome 9, 137817477: 137817477
36 EHMT1 NM_024757.4(EHMT1): c.3413G> A (p.Trp1138Ter) single nucleotide variant Pathogenic rs886037776 GRCh37 Chromosome 9, 140711929: 140711929
37 subset of 29 genes:PRRT2 NC_000016.10: g.(?_29506378)_(30180574_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 29506378: 30180574
38 CHRNA7; FAN1; KLF13; MIR211; MTMR10; OTUD7A; TRPM1 NC_000015.9: g.(?_30941572)_(32509926_?)del deletion Likely pathogenic GRCh37 Chromosome 15, 30941572: 32509926
39 CHRNA7 NC_000015.9: g.(?_32024192)_(32509926_?)dup duplication Uncertain significance GRCh37 Chromosome 15, 32024192: 32509926
40 CHRNA7 NC_000015.9: g.(?_31956036)_(32511581_?)dup duplication Uncertain significance GRCh37 Chromosome 15, 31956036: 32511581
41 subset of 27 genes:PRRT2 NC_000016.10: g.(?_29685652)_(30180586_?)dup duplication Likely pathogenic GRCh37 Chromosome 16, 29696973: 30191907
42 subset of 27 genes:PRRT2 NC_000016.10: g.(?_29685652)_(30180586_?)dup duplication Likely pathogenic GRCh38 Chromosome 16, 29685652: 30180586
43 subset of 29 genes:PRRT2 NC_000016.10: g.(?_29506378)_(30180574_?)dup duplication Likely pathogenic GRCh37 Chromosome 16, 29517699: 30191895
44 subset of 29 genes:PRRT2 NC_000016.10: g.(?_29506378)_(30180574_?)dup duplication Likely pathogenic GRCh38 Chromosome 16, 29506378: 30180574
45 subset of 28 genes:PRRT2 NC_000016.10: g.(?_29602174)_(30178709_?)dup duplication Likely pathogenic GRCh37 Chromosome 16, 29613495: 30190030
46 subset of 28 genes:PRRT2 NC_000016.10: g.(?_29602174)_(30178709_?)dup duplication Likely pathogenic GRCh38 Chromosome 16, 29602174: 30178709
47 subset of 41 genes:PRRT2 NC_000016.10: g.(?_29390980)_(30215610_?)dup duplication Likely pathogenic GRCh37 Chromosome 16, 29402301: 30226931
48 subset of 41 genes:PRRT2 NC_000016.10: g.(?_29390980)_(30215610_?)dup duplication Likely pathogenic GRCh38 Chromosome 16, 29390980: 30215610
49 subset of 29 genes:PRRT2 NC_000016.10: g.(?_29506378)_(30180574_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 29517699: 30191895
50 ACR; ARSA; MAPK8IP2; RABL2B; SHANK3 NC_000022.10: g.(?_51027581)_(51234443_?)del deletion Pathogenic GRCh37 Chromosome 22, 51027581: 51234443

Expression for Autism Spectrum Disorder

Search GEO for disease gene expression data for Autism Spectrum Disorder.

Pathways for Autism Spectrum Disorder

Pathways related to Autism Spectrum Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.85 MIR106A MIR132 MIR212 MIR431

GO Terms for Autism Spectrum Disorder

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 MIR106A MIR132 MIR140 MIR146B MIR148B MIR21
2 micro-ribonucleoprotein complex GO:0035068 9.5 MIR106A MIR132 MIR140 MIR146B MIR148B MIR193B

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.67 MIR132 MIR140 MIR21 MIR212
2 gene silencing by miRNA GO:0035195 9.5 MIR106A MIR132 MIR140 MIR146B MIR148B MIR193B
3 negative regulation of blood vessel endothelial cell migration GO:0043537 9.43 MIR132 MIR212
4 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.4 MIR132 MIR27A
5 miRNA mediated inhibition of translation GO:0035278 9.35 MIR106A MIR132 MIR21 MIR212 MIR27A
6 positive regulation of vascular endothelial cell proliferation GO:1905564 9.33 MIR132 MIR21 MIR27A
7 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.32 MIR132 MIR27A
8 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.26 MIR140 MIR21

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.32 MIR106A MIR132 MIR140 MIR146B MIR148B MIR193B

Sources for Autism Spectrum Disorder

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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69 SNOMED-CT via HPO
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