MCID: ATS007
MIFTS: 61

Autism Spectrum Disorder

Categories: Rare diseases, Mental diseases, Genetic diseases

Aliases & Classifications for Autism Spectrum Disorder

MalaCards integrated aliases for Autism Spectrum Disorder:

Name: Autism Spectrum Disorder 12 53 25 54 43 15
Autism Spectrum Disorders 29 6 73
Asd 53 25
Pervasive Developmental Disorder 25
Pervasive Development Disorder 73
Autistic Continuum 25
Autistic Behavior 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0060041

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 autism spectrum disorders, is related to pervasive developmental disorder and autism, 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 miRNAs involved in DNA damage response. The drugs Aripiprazole and Dopamine 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.

Wikipedia : 76 Autism spectrum, also known as autism spectrum disorder (ASD), is a range of conditions classified as... more...

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 226)
# Related Disease Score Top Affiliating Genes
1 pervasive developmental disorder 34.1 PTCHD1 RPL10 SHANK2
2 autism 33.2 EHMT1 PTCHD1 RPL10 SHANK2
3 muscular dystrophy, duchenne type 29.8 MIR146B MIR381 MIR432 MIR95
4 adnp-related intellectual disability and autism spectrum disorder 12.3
5 patent foramen ovale 11.9
6 adnp syndrome 11.8
7 arthrogryposis, mental retardation, and seizures 11.6
8 helsmoortel-van der aa syndrome 11.6
9 asperger syndrome 11.6
10 timothy syndrome 11.3
11 fragile x syndrome 11.3
12 specific language impairment 11.2
13 rett syndrome 11.2
14 chromosome 15q13.3 deletion syndrome 11.2
15 speech and communication disorders 11.2
16 16p11.2 duplication 11.2
17 mental retardation, autosomal recessive 38 11.1
18 mental retardation, autosomal dominant 26 11.1
19 autism x-linked 4 11.0
20 epilepsy, familial focal, with variable foci 1 11.0
21 pitt-hopkins syndrome 11.0
22 specific language impairment 5 11.0
23 schaaf-yang syndrome 11.0
24 chromosome 15q11.2 deletion syndrome 11.0
25 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.0
26 childhood disintegrative disease 11.0
27 syngap1-related intellectual disability 11.0
28 autism x-linked 1 10.8
29 autism x-linked 2 10.8
30 autism x-linked 3 10.8
31 autism x-linked 5 10.8
32 autism x-linked 6 10.8
33 chromosome 2q37 deletion syndrome 10.8
34 potocki-shaffer syndrome 10.8
35 athabaskan brainstem dysgenesis syndrome 10.8
36 macrocephaly/autism syndrome 10.8
37 autism 5 10.8
38 autism 8 10.8
39 autism 3 10.8
40 autism 6 10.8
41 autism 7 10.8
42 autism 11 10.8
43 autism 12 10.8
44 potocki-lupski syndrome 10.8
45 autism 13 10.8
46 autism 9 10.8
47 autism 10 10.8
48 autism 15 10.8
49 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.8
50 autism 16 10.8

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:


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

Drugs & Therapeutics for Autism Spectrum Disorder

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

(show top 50) (show all 286)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
2
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
3
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 113-45-1 4158
4
Oxytocin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-56-6 439302 53477758
5
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1,Not Applicable 19982-08-2 4054
6
Guanfacine Approved, Investigational Phase 4,Not Applicable 29110-47-2 3519
7
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
8
Acetylcysteine Approved, Investigational Phase 4,Phase 2 616-91-1 12035
9
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
10
Olanzapine Approved, Investigational Phase 4,Phase 2 132539-06-1 4585
11
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 106266-06-2 5073
12
Ziprasidone Approved Phase 4,Phase 3,Phase 2 146939-27-7 60854
13
Acetylcholine Approved Phase 4,Phase 1 51-84-3 187
14
Donepezil Approved Phase 4,Phase 1,Phase 2 120014-06-4 3152
15
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 73-31-4 896
16
Choline Approved, Nutraceutical Phase 4 62-49-7 305
17 Antipsychotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
19 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Antibodies Phase 4
23 gamma-Globulins Phase 4
24 Immunoglobulins Phase 4
25 Immunoglobulins, Intravenous Phase 4
26 Rho(D) Immune Globulin Phase 4
27 Antiparkinson Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
28 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
30 Central Nervous System Stimulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Dopamine Uptake Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
32 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
35 Antiviral Agents Phase 4,Phase 2
36 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
37 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2
38 Oxytocics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
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 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
42 Adrenergic Agonists Phase 4,Phase 2,Not Applicable
43 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2,Not Applicable
44 Adrenergic alpha-Agonists Phase 4,Phase 2,Not Applicable
45 Antihypertensive Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Atomoxetine Hydrochloride Phase 4,Phase 3
47 Antidepressive Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Serotonin Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Serotonin Uptake Inhibitors Phase 4,Phase 2,Phase 1
50 Antidotes Phase 4,Phase 2

Interventional clinical trials:

(show top 50) (show all 704)
# Name Status NCT ID Phase Drugs
1 Study to Evaluate the Efficacy and Safety of Aripiprazole Unknown status NCT02069977 Phase 4 Aripiprazole
2 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%
3 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
4 FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders Completed NCT01028820 Phase 4 Aripiprazole
5 Omega-3 Fatty Acids in Autism Spectrum Disorders Completed NCT01695200 Phase 4
6 Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
7 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
8 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
9 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
10 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
11 Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism Completed NCT02235467 Phase 4
12 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
13 A Study of Atomoxetine for Attention Deficit and Hyperactive/Impulsive Behaviour Problems in Children With ASD Completed NCT00485849 Phase 4 Atomoxetine Hydrochloride
14 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
15 An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
16 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
17 Preemie Tots: A Pilot Study to Understand the Effects of Prematurity in Toddlerhood Completed NCT01683565 Phase 4 LCPUFA oil supplement
18 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
19 Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders Enrolling by invitation NCT02940574 Phase 4 Syntocinon (Oxytocin)
20 Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes Enrolling by invitation NCT03333629 Phase 4
21 Improving Driving in Young People With Autism Spectrum Disorders Not yet recruiting NCT03538431 Phase 4 Buspirone
22 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
23 Melatonin CR for the Treatment of Impaired Sleep Maintenance in 4-8 Year Old Children With Autism Spectrum Disorders Terminated NCT01033565 Phase 4 Natrol
24 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
25 Group Psychoeducational Program for Mothers of Children With High Functional Pervasive Developmental Disorders Unknown status NCT01243905 Phase 2, Phase 3
26 Improving Social Cognition for Adults With ASD by the Serious Game JeStiMulE Versus Controls Unknown status NCT02568631 Phase 2, Phase 3
27 Pilot Study of Riluzole for Drug-Refractory Irritability in Autism Spectrum Disorders Completed NCT02081027 Phase 2, Phase 3 Riluzole;placebo
28 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
29 D-Cycloserine and Social Skills Training in Autism Spectrum Disorders Completed NCT01086475 Phase 3 D-cycloserine;Placebo
30 Study of Aripiprazole in the Treatment of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
31 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
32 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
33 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
34 Supporting the Well Being of Families of Young Children With Autism Spectrum Disorders Completed NCT01021384 Phase 3
35 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00346736 Phase 3
36 Use of Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
37 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3
38 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3
39 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
40 Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism Completed NCT00498173 Phase 3 Atomoxetine;Placebo
41 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
42 Pharmacogenomics in Autism Treatment Completed NCT00584701 Phase 2, Phase 3 Risperidone
43 Methylphenidate for Attention Deficit Hyperactivity Disorder and Autism in Children Completed NCT00178503 Phase 2, Phase 3 Methylphenidate-extended release;Methylphenidate-immediate release
44 Open Label Clinical Trial of Vitamin D in Children With Autism Completed NCT01535508 Phase 2, Phase 3 Liquid Vitamin D
45 Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12
46 Study of Paliperidone ER in Adolescents and Young Adults With Autism Completed NCT00549562 Phase 3 Paliperidone ER
47 Galantamine Versus Placebo in Childhood Autism Completed NCT00252603 Phase 3 Galantamine
48 Study to Determine Whether There Are Any Cognitive or Motor Effects From Taking the Medicine Risperidone. Completed NCT00399698 Phase 3 Risperdal
49 Efficacy and Safety of Circadin® in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities Completed NCT01906866 Phase 3 Circadin 2/5/10 mg;Placebo
50 Lurasidone Pediatric Autism Study Completed NCT01911442 Phase 3 Lurasidone 20 mg daily;Lurasidone;Placebo

Search NIH Clinical Center for Autism Spectrum Disorder

Genetic Tests for Autism Spectrum Disorder

Genetic tests related to Autism Spectrum Disorder:

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

Anatomical Context for Autism Spectrum Disorder

MalaCards organs/tissues related to Autism Spectrum Disorder:

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

Publications for Autism Spectrum Disorder

Articles related to Autism Spectrum Disorder:

(show top 50) (show all 1986)
# Title Authors Year
1
High efficiency classification of children with autism spectrum disorder. ( 29447214 )
2018
2
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
3
HLA-Ga8914bp Insertion and the KIR2DS1-HLAC2 Complex Impact on Behavioral Impairment in Children with Autism Spectrum Disorders. ( 28627421 )
2018
4
Clinical trials in autism spectrum disorder: evidence, challenges and future directions. ( 29389748 )
2018
5
<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
6
Comparing Attention to Socially-Relevant Stimuli in Autism Spectrum Disorder and Developmental Coordination Disorder. ( 29313185 )
2018
7
Overlapping and Distinct Cognitive Impairments in Attention-Deficit/Hyperactivity and Autism Spectrum Disorder without Intellectual Disability. ( 29450820 )
2018
8
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
9
Do autism spectrum disorder and anorexia nervosa have some eating disturbances in common? ( 29974245 )
2018
10
Association of Prenatal Ultrasonography and Autism Spectrum Disorder. ( 29435580 )
2018
11
Prenatal Ultrasonography and the Incidence of Autism Spectrum Disorder. ( 29435566 )
2018
12
Pulling back the curtain: Issues in conducting an intervention study with transition-aged youth with autism spectrum disorder and their families. ( 29439586 )
2018
13
Social Interactions Between 24-Month-Old Children and Their Older Sibling with Autism Spectrum Disorder: Characteristics and Association with Social-Communicative Development. ( 29971663 )
2018
14
Early motor signs of autism spectrum disorder in spontaneous position and movement of the head. ( 29450616 )
2018
15
Early diagnosis and intervention for autism spectrum disorder in Africa: insights from a case study. ( 29977267 )
2018
16
Sensory Sensitivity and Food Selectivity in Children with Autism Spectrum Disorder. ( 29116421 )
2018
17
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
18
Brief Report: Physical Activity, Body Mass Index and Arterial Stiffness in Children with Autism Spectrum Disorder: Preliminary Findings. ( 29119519 )
2018
19
Negative emotional face perception is diminished on a very early level of processing in autism spectrum disorder. ( 29451074 )
2018
20
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome. ( 29558884 )
2018
21
Nature of motor impairments in autism spectrum disorder: A comparison with developmental coordination disorder. ( 29923455 )
2018
22
Genetic analysis of very obese children with autism spectrum disorder. ( 29327328 )
2018
23
Time and Narrative: An Investigation of Storytelling Abilities in Children With Autism Spectrum Disorder. ( 29971024 )
2018
24
Gaze avoidance and perseverative language in fragile X syndrome and autism spectrum disorder: brief report. ( 29333915 )
2018
25
Idiosyncratic organization of cortical networks in autism spectrum disorder. ( 29355768 )
2018
26
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
27
Presentation and Correlates of Hoarding Behaviors in Children with Autism Spectrum Disorders and Comorbid Anxiety or Obsessive-Compulsive Symptoms. ( 29974314 )
2018
28
Differences in fecal microbial metabolites and microbiota of children with autism spectrum disorders. ( 29274915 )
2018
29
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
30
Prevalence of antibodies against Borna disease virus proteins in Japanese children with autism spectrum disorder. ( 29786872 )
2018
31
Happiness, self-esteem, and prosociality in children with and without autism spectrum disorder: Evidence from a UK population cohort study. ( 29979489 )
2018
32
A meta-analysis of the association between vocalizations and expressive language in children with autism spectrum disorder. ( 29195157 )
2018
33
Early Vocal Development in Autism Spectrum Disorder, Rett Syndrome, and Fragile X Syndrome: Insights from Studies using Retrospective Video Analysis. ( 29774230 )
2018
34
A case of Nablus mask-like facial syndrome with autism spectrum disorders. ( 29957742 )
2018
35
Erratum: A symptom-based approach to treatment of psychosis in autism spectrum disorder in October 2017-ERRATUM. ( 29971147 )
2018
36
Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome. ( 29321841 )
2018
37
Effects of Dance Movement Therapy on Adult Patients with Autism Spectrum Disorder: A Randomized Controlled Trial. ( 29966313 )
2018
38
Autism spectrum disorder in primary care. ( 29309380 )
2018
39
Emergency Medical Responders and Adolescents With Autism Spectrum Disorder. ( 29298245 )
2018
40
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
41
Attention deficit hyperactivity disorder and autism spectrum disorder symptoms in school-age children born very preterm. ( 29413425 )
2018
42
Vitamin A improves the symptoms of autism spectrum disorders and decreases 5-hydroxytryptamine (5-HT): A pilot study. ( 29122693 )
2018
43
Autism Spectrum Disorder Traits in Typically Developing Emerging Adults and Associated Parenting: A Person-Centered Approach. ( 29447619 )
2018
44
Invited Commentary: Male Reproductive System Congenital Malformations and the Risk of Autism Spectrum Disorder. ( 29452336 )
2018
45
Increasing Nursing Students' Knowledge of Autism Spectrum Disorder by Using a Standardized Patient. ( 28639981 )
2018
46
Autism spectrum disorders are prevalent among patients with dystrophinopathies. ( 29594829 )
2018
47
Co-occurrence and Severity of Neurodevelopmental Burden (Cognitive Impairment, Cerebral Palsy, Autism Spectrum Disorder, and Epilepsy) at Age Ten Years in Children Born Extremely Preterm. ( 29310907 )
2018
48
Prevention and Management of Obesity in Children with Autism Spectrum Disorder Among Primary Care Pediatricians. ( 29450838 )
2018
49
Differences in frontotemporal dysfunction during social and non-social cognition tasks between patients with autism spectrum disorder and schizophrenia. ( 29445197 )
2018
50
The Occurrence of Antibodies Against Gluten in Children with Autism Spectrum Disorders Does Not Correlate with Serological Markers of Impaired Intestinal Permeability. ( 29072974 )
2018

Variations for Autism Spectrum Disorder

ClinVar genetic disease variations for Autism Spectrum Disorder:

6
(show top 50) (show all 267)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARHGAP11A NM_014783.5(ARHGAP11A): c.932G> T (p.Arg311Ile) single nucleotide variant no interpretation for the single variant rs372419991 GRCh38 Chromosome 15, 32628797: 32628797
2 ARHGAP11A NM_014783.5(ARHGAP11A): c.932G> T (p.Arg311Ile) single nucleotide variant no interpretation for the single variant rs372419991 GRCh37 Chromosome 15, 32920998: 32920998
3 ARHGAP11A NM_014783.5(ARHGAP11A): c.1355C> G (p.Ser452Cys) single nucleotide variant no interpretation for the single variant rs146176251 GRCh38 Chromosome 15, 32635787: 32635787
4 ARHGAP11A NM_014783.5(ARHGAP11A): c.1355C> G (p.Ser452Cys) single nucleotide variant no interpretation for the single variant rs146176251 GRCh37 Chromosome 15, 32927988: 32927988
5 TPTE NM_199261.3(TPTE): c.1357-3_1357-2delTA deletion Uncertain significance rs149363218 GRCh37 Chromosome 21, 10910401: 10910402
6 TPTE NM_199261.3(TPTE): c.1357-3_1357-2delTA deletion Uncertain significance rs149363218 GRCh38 Chromosome 21, 10602055: 10602056
7 19p13.12 duplication duplication Likely pathogenic
8 EHMT1 NM_024757.4(EHMT1): c.3413G> A (p.Trp1138Ter) single nucleotide variant Pathogenic rs886037776 GRCh38 Chromosome 9, 137817477: 137817477
9 EHMT1 NM_024757.4(EHMT1): c.3413G> A (p.Trp1138Ter) single nucleotide variant Pathogenic rs886037776 GRCh37 Chromosome 9, 140711929: 140711929
10 CHRNA7; FAN1; KLF13; MIR211; MTMR10; OTUD7A; TRPM1 NC_000015.9: g.(?_30941572)_(32509926_?)del deletion Likely pathogenic GRCh37 Chromosome 15, 30941572: 32509926
11 CHRNA7 NC_000015.9: g.(?_32024192)_(32509926_?)dup duplication Uncertain significance GRCh37 Chromosome 15, 32024192: 32509926
12 CHRNA7 NC_000015.9: g.(?_31956036)_(32511581_?)dup duplication Uncertain significance GRCh37 Chromosome 15, 31956036: 32511581
13 subset of 27 genes:PRRT2 NC_000016.10: g.(?_29685652)_(30180586_?)dup duplication Likely pathogenic GRCh37 Chromosome 16, 29696973: 30191907
14 subset of 27 genes:PRRT2 NC_000016.10: g.(?_29685652)_(30180586_?)dup duplication Likely pathogenic GRCh38 Chromosome 16, 29685652: 30180586
15 subset of 29 genes:PRRT2 NC_000016.10: g.(?_29506378)_(30180574_?)dup duplication Likely pathogenic GRCh37 Chromosome 16, 29517699: 30191895
16 subset of 29 genes:PRRT2 NC_000016.10: g.(?_29506378)_(30180574_?)dup duplication Likely pathogenic GRCh38 Chromosome 16, 29506378: 30180574
17 subset of 28 genes:PRRT2 NC_000016.10: g.(?_29602174)_(30178709_?)dup duplication Likely pathogenic GRCh37 Chromosome 16, 29613495: 30190030
18 subset of 28 genes:PRRT2 NC_000016.10: g.(?_29602174)_(30178709_?)dup duplication Likely pathogenic GRCh38 Chromosome 16, 29602174: 30178709
19 subset of 41 genes:PRRT2 NC_000016.10: g.(?_29390980)_(30215610_?)dup duplication Likely pathogenic GRCh37 Chromosome 16, 29402301: 30226931
20 subset of 41 genes:PRRT2 NC_000016.10: g.(?_29390980)_(30215610_?)dup duplication Likely pathogenic GRCh38 Chromosome 16, 29390980: 30215610
21 subset of 29 genes:PRRT2 NC_000016.10: g.(?_29506378)_(30180574_?)del deletion Likely pathogenic GRCh37 Chromosome 16, 29517699: 30191895
22 subset of 29 genes:PRRT2 NC_000016.10: g.(?_29506378)_(30180574_?)del deletion Likely pathogenic GRCh38 Chromosome 16, 29506378: 30180574
23 ACR; ARSA; MAPK8IP2; RABL2B; SHANK3 NC_000022.10: g.(?_51027581)_(51234443_?)del deletion Pathogenic GRCh37 Chromosome 22, 51027581: 51234443
24 subset of 35 genes:SHANK3 NC_000022.10: g.(?_50282986)_(51304566_?)del deletion Pathogenic GRCh37 Chromosome 22, 50282986: 51304566
25 subset of 36 genes:SHANK3 NC_000022.10: g.(?_49033233)_(51193680_?)del deletion Pathogenic GRCh37 Chromosome 22, 49033233: 51193680
26 covers 12 genes, none of which curated to show dosage sensitivity NC_000002.12: g.(?_109696399)_(110327308_?)dup duplication Uncertain significance GRCh37 Chromosome 2, 110453976: 111084885
27 covers 12 genes, none of which curated to show dosage sensitivity NC_000002.12: g.(?_109696399)_(110327308_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 109696399: 110327308
28 CYFIP1; GOLGA6L1; NIPA1; NIPA2; TUBGCP5 NC_000015.9: g.(?_22410242)_(23222284_?)del deletion Uncertain significance GRCh37 Chromosome 15, 22410242: 23222284
29 CYP4V2; FAM149A; FLJ38576; KLKB1; TLR3 NC_000004.12: g.(?_186013132)_(186215992_?)dup duplication Uncertain significance GRCh37 Chromosome 4, 186934286: 187137146
30 CYP4V2; FAM149A; FLJ38576; KLKB1; TLR3 NC_000004.12: g.(?_186013132)_(186215992_?)dup duplication Uncertain significance GRCh38 Chromosome 4, 186013132: 186215992
31 OR4A47; OR4C5 NC_000011.10: g.(?_48359351)_(48946475_?)del deletion Uncertain significance GRCh37 Chromosome 11, 48380903: 48968027
32 OR4A47; OR4C5 NC_000011.10: g.(?_48359351)_(48946475_?)del deletion Uncertain significance GRCh38 Chromosome 11, 48359351: 48946475
33 ZNF716 NC_000007.13: g.(?_57260919)_(57882330_?)dup duplication Uncertain significance GRCh37 Chromosome 7, 57260919: 57882330
34 LGALS9 NC_000017.11: g.(?_27647231)_(27748498_?)del deletion Uncertain significance GRCh37 Chromosome 17, 25974257: 26075524
35 LGALS9 NC_000017.11: g.(?_27647231)_(27748498_?)del deletion Uncertain significance GRCh38 Chromosome 17, 27647231: 27748498
36 NC_000015.8: g.26762141_30302218del3540078 deletion Pathogenic NCBI36 Chromosome 15, 26762141: 30302218
37 NC_000005.8: g.175492445_177359136del1866692 deletion Pathogenic NCBI36 Chromosome 5, 175492445: 177359136
38 NC_000015.8: g.28723577_30322604del1599028 deletion Pathogenic NCBI36 Chromosome 15, 28723577: 30322604
39 NC_000015.8: g.28723577_30302218dup duplication Uncertain significance NCBI36 Chromosome 15, 28723577: 30302218
40 NC_000015.8: g.21200233_26762141dup duplication Pathogenic NCBI36 Chromosome 15, 21200233: 26762141
41 NC_000015.8: g.19359417_26208861dup duplication Pathogenic NCBI36 Chromosome 15, 19359417: 26208861
42 NC_000015.8: g.19359417_30302218del10942802 deletion Pathogenic NCBI36 Chromosome 15, 19359417: 30302218
43 NC_000015.8: g.23298670_24646413dup duplication Likely pathogenic NCBI36 Chromosome 15, 23298670: 24646413
44 NC_000015.8: g.21238307_32518050dup duplication Likely pathogenic NCBI36 Chromosome 15, 21238307: 32518050
45 NC_000001.9: g.144967972_146293282dup duplication Pathogenic NCBI36 Chromosome 1, 144967972: 146293282
46 NC_000001.9: g.144943150_146293282del1350133 deletion Pathogenic NCBI36 Chromosome 1, 144943150: 146293282
47 NC_000001.9: g.144970465_146293282dup duplication Pathogenic NCBI36 Chromosome 1, 144970465: 146293282
48 NC_000001.9: g.145119261_146293282dup duplication Pathogenic NCBI36 Chromosome 1, 145119261: 146293282
49 NC_000016.8: g.29554843_30085308del530466 deletion Pathogenic NCBI36 Chromosome 16, 29554843: 30085308
50 NC_000016.8: g.29554843_30085308dup duplication Pathogenic NCBI36 Chromosome 16, 29554843: 30085308

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 10.5 MIR23A MIR27A MIR93

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 9.4 MIR140 MIR146B MIR148B MIR15A MIR212 MIR23A

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

# Name GO ID Score Top Affiliating Genes
1 miRNA mediated inhibition of translation GO:0035278 9.33 MIR15A MIR212 MIR27A
2 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.32 MIR140 MIR15A
3 gene silencing by miRNA GO:0035195 9.28 MIR140 MIR146B MIR148B MIR15A MIR212 MIR23A
4 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.26 MIR140 MIR15A
5 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.13 MIR146B MIR15A MIR320A

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 9.28 MIR140 MIR146B MIR148B MIR15A MIR212 MIR23A

Sources for Autism Spectrum Disorder

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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