Autism Spectrum Disorder (ASD)

Categories: Eye diseases, 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 20 43 53 29 6 42 44 15 17
Autism Spectrum Disorders 6 15 70
Asd 20 43
Pervasive Developmental Disorder 43
Pervasive Development Disorder 70
Autistic Continuum 43
Autistic Behavior 70


External Ids:

Disease Ontology 12 DOID:0060041
MeSH 44 D000067877
UMLS 70 C0524528 C0856975 C1510586

Summaries for Autism Spectrum Disorder

MedlinePlus Genetics : 43 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.From as early as 1 to 2 years of age, people with ASD have an impaired ability to interact with other people; they are often more comfortable dealing with objects. Affected individuals have difficulty understanding and using non-verbal social cues such as eye contact, facial expressions, gestures, and body language. Inability to recognize and use these cues makes it hard for affected individuals to understand the feelings of others or communicate their own feelings appropriately. Behavioral signs of ASD, such as reduced eye contact and social interaction, can sometimes be detected before age 2. However, the condition is usually diagnosed between ages 2 and 4, when more advanced communication and social skills, such as learning to play with others, typically begin to develop.Repetitive behaviors in ASD can include simple actions such as rocking, hand-flapping, or repetition of words or noises (echolalia). Affected individuals often dwell on or repeatedly express particular thoughts; this behavior is called perseveration. People with ASD tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as loud noises or bright lights.While social and communication difficulties and unusual behaviors define ASD, affected individuals can have a wide range of intellectual abilities and language skills. A majority of people with ASD have mild to moderate intellectual disability, while others have average to above-average intelligence. Some have particular cognitive abilities that greatly surpass their overall level of functioning, often in areas such as music, mathematics, or memory.Some people with ASD do not speak at all, while others use language fluently. However, fluent speakers with ASD often have problems associated with verbal communication. They might speak in a monotone voice, have unusual vocal mannerisms, or choose unusual topics of conversation.Several diagnoses that used to be classified as separate conditions are now grouped together under the diagnosis of ASD. For example, autistic disorder was a term that was used when affected individuals had limited or absent verbal communication, often in combination with intellectual disability. By contrast, Asperger syndrome was a diagnosis formerly applied to affected individuals of average or above-average intelligence who were not delayed in their language development. The broader diagnosis of ASD was established because many affected individuals fall outside of the strict definitions of the narrower diagnoses, and their intellectual and communication abilities may change over time. However, some individuals who were previously diagnosed with one of the subtypes now do not meet all the criteria of the new umbrella diagnosis.

MalaCards based summary : Autism Spectrum Disorder, also known as autism spectrum disorders, is related to autism and asperger syndrome, 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 SHANK2 (SH3 And Multiple Ankyrin Repeat Domains 2), and among its related pathways/superpathways are Circadian entrainment and Protein-protein interactions at synapses. The drugs Aripiprazole and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are behavior/neurological and growth/size/body region

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.

GARD : 20 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.

MedlinePlus : 42 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

NINDS : 53 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 : 73 The autism spectrum encompasses a range of neurodevelopmental conditions, including autism and Asperger... more...

Related Diseases for Autism Spectrum Disorder

Diseases in the Autism family:

Autism 8 Autism 3
Autism 6 Autism 7
Autism 11 Autism 12
Autism 13 Autism 9
Autism 10 Autism 15
Autism 16 Autism 17
Autism 18 Autism 19
Autism 20 Autism Spectrum Disorder
Rare Disease with Autism

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

(show top 50) (show all 1010)
# Related Disease Score Top Affiliating Genes
1 autism 34.8 TSC2 SHANK3 SHANK2 RNF135 NR3C2 NLGN3
2 asperger syndrome 33.2 SHANK3 SHANK2 NLGN3
3 alacrima, achalasia, and mental retardation syndrome 33.0 SHANK3 NLGN3 MEF2C MBD5 LOC101927078 KCNQ3
4 fragile x syndrome 33.0 TSC2 SHANK2 NLGN3 CHD8
5 pitt-hopkins syndrome 32.7 MEF2C MBD5 EHMT1 CHD8
6 sotos syndrome 1 32.7 RNF135 MBD5 EHMT1 CHD8
7 disease of mental health 32.6 TSC2 SHANK3 SHANK2 NR3C2 NLGN3 MEF2C
8 pervasive developmental disorder 32.5 TSC2 SHANK2 NLGN3 CHD8
9 childhood disintegrative disease 32.5 SHANK2 NLGN3
10 atypical autism 32.4 SHANK2 NLGN3
11 phelan-mcdermid syndrome 31.7 SHANK3 SHANK2 NLGN3
12 seizure disorder 31.4 MEFV LOC101927078 KCNQ3 KCNN2 CHD2 ANKRD11
13 neurofibromatosis, type i 31.1 TSC2 RNF135 MAP2K1
14 kabuki syndrome 1 31.0 EHMT1 CHD8 ANKRD11
15 lennox-gastaut syndrome 30.6 TSC2 KCNQ3 CHD2
16 dravet syndrome 30.5 TSC2 KCNQ3 CHD2
17 helsmoortel-van der aa syndrome 11.8
18 arthrogryposis, mental retardation, and seizures 11.5
19 patent foramen ovale 11.5
20 attention deficit-hyperactivity disorder 11.4
21 chromosome 15q11.2 deletion syndrome 11.3
22 shukla-vernon syndrome 11.3
23 chromosome 2q37 deletion syndrome 11.3
24 schaaf-yang syndrome 11.3
25 mental retardation, autosomal recessive 38 11.2
26 mental retardation, autosomal dominant 26 11.2
27 adnp-related intellectual disability and autism spectrum disorder 11.2
28 anterior segment dysgenesis 11.2
29 atrial septal defect 1 11.2
30 rare pervasive developmental disorder 11.2
31 grin2b-related developmental delay, intellectual disability and autism spectrum disorder 11.2
32 moebius syndrome 11.2
33 epilepsy, familial focal, with variable foci 1 11.2
34 chromosome 1q21.1 deletion syndrome, 1.35-mb 11.2
35 schindler disease 11.2
36 autism x-linked 4 11.2
37 intellectual developmental disorder with autism and speech delay 11.2
38 chromosome 15q13.3 deletion syndrome 11.2
39 chromosome 1q21.1 duplication syndrome 11.2
40 developmental delay with variable intellectual impairment and behavioral abnormalities 11.2
41 16p11.2 duplication 11.2
42 specific language impairment 5 11.2
43 white-sutton syndrome 11.2
44 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 11.2
45 intellectual developmental disorder, autosomal dominant 61 11.2
46 developmental delay with or without dysmorphic facies and autism 11.2
47 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 11.2
48 vissers-bodmer syndrome 11.2
49 chromosome 16p11.2 deletion syndrome 11.2
50 syngap1-related intellectual disability 11.2

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

Diseases related to Autism Spectrum Disorder

Symptoms & Phenotypes for Autism Spectrum Disorder


  • 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

MGI Mouse Phenotypes related to Autism Spectrum Disorder:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ANKRD11 CHD2 CHD8 EHMT1 KCNQ3 MBD5
2 growth/size/body region MP:0005378 10.24 ANKRD11 CHD2 CHD8 EHMT1 KCNQ3 MAP2K1
3 homeostasis/metabolism MP:0005376 10.1 ANKRD11 CHD2 CHD8 EHMT1 KCNQ3 MAP2K1
4 hematopoietic system MP:0005397 10.06 ANKRD11 CHD2 CHD8 EHMT1 MBD5 MEF2C
5 mortality/aging MP:0010768 10.06 ANKRD11 CHD2 CHD8 EHMT1 KCNQ3 MAP2K1
6 nervous system MP:0003631 9.73 CHD8 EHMT1 KCNQ3 MAP2K1 MBD5 MEF2C
7 normal MP:0002873 9.23 CHD2 EHMT1 MAP2K1 MEF2C MEFV NLGN3

Drugs & Therapeutics for Autism Spectrum Disorder

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

(show top 50) (show all 298)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
Buspirone Approved, Investigational Phase 4 36505-84-7 2477
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
Metformin Approved Phase 4 657-24-9 4091 14219
Norepinephrine Approved Phase 4 51-41-2 439260
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585 135398745
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
Inositol Approved, Investigational, Withdrawn Phase 4 87-89-8
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
15 Antibodies Phase 4
16 Immunoglobulins Phase 4
17 Immunologic Factors Phase 4
18 gamma-Globulins Phase 4
19 Immunoglobulins, Intravenous Phase 4
20 Rho(D) Immune Globulin Phase 4
21 Neurotransmitter Agents Phase 4
22 Psychotropic Drugs Phase 4
23 Serotonin Receptor Agonists Phase 4
24 Dopamine agonists Phase 4
25 Antidepressive Agents Phase 4
26 Antipsychotic Agents Phase 4
27 Serotonin 5-HT1 Receptor Agonists Phase 4
28 Dopamine Antagonists Phase 4
29 Serotonin Uptake Inhibitors Phase 4
30 insulin Phase 4
31 Insulin, Globin Zinc Phase 4
32 Hypoglycemic Agents Phase 4
33 Analgesics, Non-Narcotic Phase 4
34 Analgesics Phase 4
35 Adrenergic Agents Phase 4
36 Atomoxetine Hydrochloride Phase 4
37 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
38 Antiemetics Phase 4
39 Dopamine Agents Phase 4
40 Expectorants Phase 4
41 Antiviral Agents Phase 4
42 N-monoacetylcystine Phase 4
43 Central Nervous System Stimulants Phase 4
44 Dopamine Uptake Inhibitors Phase 4
45 Lisdexamfetamine Dimesylate Phase 4
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
Mirtazapine Approved Phase 3 85650-52-8, 61337-67-5 4205
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
Cycloserine Approved Phase 3 68-41-7 401 6234
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307

Interventional clinical trials:

(show top 50) (show all 870)
# Name Status NCT ID Phase Drugs
1 A Multinational, Multicenter, Open-label, Single-arm Study to Evaluate the Efficacy and Safety of Aripiprazole in Asian Pediatric Patients With Autism Spectrum Disorder and Behavior Problems Unknown status NCT02069977 Phase 4 Aripiprazole
2 A Phase IV, Single-site, Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
3 Guanfacine for the Treatment of Hyperactivity in Pervasive Developmental Disorder Completed NCT01238575 Phase 4 extended-release guanfacine
4 The Effect of N-Acetyl Cysteine on Cortical Erosion in Early Stage Schizophrenia Completed NCT01339858 Phase 4 N-Acetyl Cysteine
5 Improving Driving in Young People With Autism Spectrum Disorders Completed NCT03538431 Phase 4 Buspirone
6 Pilot Study of the Effect of Aripiprazole Treatment in Autism Spectrum Disorders on Functional Magnetic Resonance Imaging (fMRI) Activation Patterns and Symptoms Completed NCT01028820 Phase 4 Aripiprazole
7 A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders Completed NCT01333865 Phase 4 Memantine
8 The Role of Omega-3 Fatty Acids in the Management of Singaporean Children With Autism Spectrum Disorders Completed NCT01695200 Phase 4
9 Oxytocin-based Pharmacotherapy for Autism Spectrum Disorders: Investigating the Neural and Behavioral Effects of a Promising Intervention Approach Completed NCT02940574 Phase 4 Syntocinon (Oxytocin)
10 Multisite Study: Acquisition of Social Skills in Children With Autism Using Video Modeling in Parental Training Completed NCT02235467 Phase 4
11 Quillivant XR in Children With Attention Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD): A Pilot Study Completed NCT02255565 Phase 4 Very Low Dose Quillivant XR;Low Dose Quillivant XR;Moderate Dose Quillivant XR
12 A Randomized, Double-blind Comparison of Atomoxetine Hydrochloride and Placebo for Symptoms of Attention-Deficit/Hyperactivity Disorder in Children and Adolescents With Autism Spectrum Disorder Completed NCT00380692 Phase 4 Atomoxetine;Placebo
13 Open-Label Treatment Trial to Assess the Short-Term Tolerability, Safety, and Efficacy of Methylphenidate Hydrochloride Extended-Release Liquid Formulation in High-Functioning Autism Spectrum Disorder Adults With Attention-Deficit/Hyperactivity Disorder Completed NCT02096952 Phase 4 Methylphenidate extended-release liquid formulation
14 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
15 A Prospective Open-label Trial of Metformin for Weight Control of Pediatric Patients on Atypical Antipsychotic Medications. Completed NCT00391261 Phase 4 Metformin
16 Metabolic Effects of Antipsychotics in Children Completed NCT00205699 Phase 4 risperidone;olanzapine;aripiprazole
17 Atomoxetine, Placebo and Parent Management Training in Autism Completed NCT00844753 Phase 4 atomoxetine;Placebo
18 An Open-Label Clinical Trial Conducted Via Telepsychiatry of Complementary and Alternative Treatments (Omega-3 Fatty Acids and Inositol vs. N-acetylcysteine) for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) Recruiting NCT03757585 Phase 4 Open-label Treatment with Omega-3 Fatty Acids + Inositol;Open-label Treatment with N-acetylcysteine
19 A Multi-Center, Open Label, Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With Attention Deficit Hyperactivity Disorder and Autism Spectrum Disorder Recruiting NCT03337646 Phase 4 Lisdexamfetamine Dimesylate
20 Connecting the Dots: An RCT Integrating Standardized ASD Screening, High-Quality Treatment, and Long-Term Outcomes Enrolling by invitation NCT03333629 Phase 4
21 Controlled-Release Melatonin (Melatonin CR)for the Treatment of Impaired Sleep Maintenance (ISM) in 4-8 Year Old Children With Autism Spectrum Disorders (ASD). Terminated NCT01033565 Phase 4 Natrol
22 Group Psychoeducational Program for Mothers of Preschool Children With High Functional Pervasive Developmental Disorders: a Randomized Controlled Trial Unknown status NCT01243905 Phase 2, Phase 3
23 A Randomized, Double-Blind, Placebo-Controlled Study of the Efficacy, Safety, and Tolerability of STX209 (Arbaclofen) Administered for the Treatment of Social Function in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
24 Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders Completed NCT01302964 Phase 3 Placebo;Mirtazapine
25 Pharmacotherapy of Pervasive Developmental Disorders Completed NCT00870727 Phase 3 Aripiprazole oral product;Placebo oral capsule
26 A Randomized, Placebo-Controlled Trial of D-Cycloserine for the Enhancement of Social Skills Training in Pervasive Developmental Disorders Completed NCT01086475 Phase 3 D-cycloserine;Placebo
27 Efficacy And Safety Of Risperidone In The Treatment Of Children With Autistic Disorder And Other Pervasive Developmental Disorders: A Canadian, Multicenter, Double-Blind, Placebo-Controlled Study Completed NCT00261508 Phase 3 risperidone
28 2/3 Treatment of Anxiety in Autism Spectrum Disorder Completed NCT02028247 Phase 3
29 Phase II/III Clinical Trial of NPC-15 - Verification of the Efficacy for Sleep Disorders of Children With Autism Spectrum Disorders - Completed NCT02757066 Phase 2, Phase 3 NPC-15 Granules Lower Dose;NPC-15 Granules Higher Dose;NPC-15 Placebo Granule
30 Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) Completed NCT01825798 Phase 3 Metformin;Placebo
31 Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders Completed NCT01178385 Phase 2, Phase 3
32 Testing a Novel Speech Intervention in Minimally Verbal Children With Autism Spectrum Disorder (ASD) Completed NCT03015272 Phase 2, Phase 3
33 An Examination of Changes in Urinary Metabolites With Use of Folinic Acid in Children With Autism Spectrum Disorder (ASD) Completed NCT03771560 Phase 2, Phase 3 folinic acid
34 Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder Completed NCT01972074 Phase 3 Memantine
35 To Mirror or Not to Mirror Upon Perceived Eye Contact? The Effect of Oxytocin on Socially Adaptive Mirror System Functioning in Autism Completed NCT03640156 Phase 3 Oxytocin
36 Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation Completed NCT00355329 Phase 3
37 Randomized Control Trial of Using Acupuncture In Children With Autistic Spectrum Disorder Completed NCT00352352 Phase 3
38 Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder Completed NCT00352248 Phase 3
39 Use of Acupuncture In Autistic Spectrum Disorder Completed NCT00346736 Phase 3
40 Effects of Risperidone on Cognitive-Motor Performance and Motor Movements in Chronically Medicated Children Completed NCT00399698 Phase 3 Risperdal
41 A Double-Blind, Crossover Trial of Cannabidiol to Treat Severe Behavior Problems in Children With Autism Recruiting NCT04517799 Phase 2, Phase 3 Epidiolex;placebo oral solution
42 A Multidisciplinary Approach to the Treatment of Encopresis in Children With Autism Spectrum Disorders Recruiting NCT03197922 Phase 3
43 Role of Bumetanide in Treatment of Autism Spectrum Disorder in Children Recruiting NCT04766177 Phase 3 Bumetanide;Placebo
44 A Phase 3, Multicenter, Randomized, Double-blind, Placebo Controlled Trial of Brexpiprazole in Treatment of Children and Adolescents With Irritability Associated With Autism Spectrum Disorder Recruiting NCT04174365 Phase 3 Brexpiprazole;Placebo
45 Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions: A Randomized-controlled Trial Recruiting NCT03553875 Phase 3 Memantine Hydrochloride;Placebo
46 Intranasal Vasopressin Treatment in Children With Autism Recruiting NCT03204786 Phase 2, Phase 3 Vasopressin (USP) Injectable Solution [Vasostrict];Placebo
47 A Pilot Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder Active, not recruiting NCT02985749 Phase 3 Intranasal Oxytocin
48 Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. A 6-month Randomised, Double-blind, Placebo Controlled Multicentre Parallel Group Study to Evaluate Efficacy and Safety of Bumetanide 0.5mg Twice a Day Followed by an Open Label Active 6-month Treatment Period With Bumetanide (0.5mg Twice a Day) and a 6 Weeks Discontinuation Period After Treatment Stop. Active, not recruiting NCT03715153 Phase 3 BUMETANIDE/S95008;PLACEBO
49 A 6-month Randomised, Double-blind, Placebo Controlled Multicentre Parallel Group Study to Evaluate Efficacy and Safety of Bumetanide 0.5mg Twice a Day Followed by an Open Label Active 6-month Treatment Period With Bumetanide (0.5mg Twice a Day) and a 6 Weeks Discontinuation Period After Treatment Stop. Active, not recruiting NCT03715166 Phase 3 Bumetanide Oral Solution;Placebo
50 A Phase 3, Multicenter, Open Label Trial to Evaluate the Long-term Safety and Tolerability of Brexpiprazole in Treatment of Children and Adolescents With Irritability Associated With Autism Spectrum Disorder Enrolling by invitation NCT04258839 Phase 3 Brexpiprazole

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:

Brain, Eye, Cortex, Amygdala, Prefrontal Cortex, Cerebellum, Thyroid

Publications for Autism Spectrum Disorder

Articles related to Autism Spectrum Disorder:

(show top 50) (show all 26067)
# Title Authors PMID Year
Autism and developmental disability caused by KCNQ3 gain-of-function variants. 6 61
31177578 2019
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. 61 6
30504930 2019
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 61 6
30763456 2019
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. 61 6
28263302 2017
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. 6 61
27651234 2016
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. 61 6
27569545 2016
The contribution of de novo coding mutations to autism spectrum disorder. 6 61
25363768 2014
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. 61 6
23044707 2013
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. 61 6
23495136 2013
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). 61 6
21984749 2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. 61 6
21658581 2011
Association between microdeletion and microduplication at 16p11.2 and autism. 6 61
18184952 2008
Can probiotic supplements improve the symptoms of autism spectrum disorder in children?: A protocol for systematic review and meta analysis. 61 42
33725807 2021
Effect and safety of acupuncture for autism spectrum disorders: A protocol for systematic review and meta-analysis. 61 42
33725922 2021
Safety and efficacy of complementary and alternative medicine in the treatment of autism spectrum disorder: A protocol for systematic review and meta-analysis. 42 61
33157993 2020
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 6
31616000 2019
Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders. 6
31238879 2019
MAP1B mutations cause intellectual disability and extensive white matter deficit. 6
30150678 2018
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 6
25740509 2015
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome. 6
21984751 2012
Fetal akinesia: review of the genetics of the neuromuscular causes. 6
21984750 2011
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 6
21844811 2011
Kleefstra Syndrome 6
20945554 2010
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. 6
19289393 2009
A 15q13.3 microdeletion segregating with autism. 6
19050728 2009
Heterogeneous dysregulation of microRNAs across the autism spectrum. 47 61
18563458 2008
22q13 deletion syndrome. 6
11391650 2001
Neuritogenic function of microglia in maternal immune activation and autism spectrum disorders. 61
33318443 2021
Decidual cells are the initial target of polyriboinosinic-polyribocytidylic acid in a mouse model of maternal viral infection. 61
33732901 2021
Supernumerary neurons within the cerebral cortical subplate in autism spectrum disorders. 61
33607045 2021
Ultrasonic vocalizations in mice: relevance for ethologic and neurodevelopmental disorders studies. 61
33269765 2021
Special educational support in children and adolescents with Autism Spectrum Disorder in Germany: Results from a parent survey. 61
33690110 2021
Reduced visual cortical plasticity in autism spectrum disorder. 61
33545310 2021
Development of the Fearless, Tearless Transition model of care for adolescents with an intellectual disability and/or autism spectrum disorder with mental health comorbidities. 61
33332592 2021
Stem cell therapies in cerebral palsy and autism spectrum disorder. 61
33398874 2021
Emerging mechanisms of valproic acid-induced neurotoxic events in autism and its implications for pharmacological treatment. 61
33761592 2021
Quality of life, gastrointestinal symptoms, sleep problems, social support, and social functioning in adults with autism spectrum disorder. 61
33676088 2021
Daily living skills in adolescents with autism spectrum disorder: Implications for intervention and independence. 61
33796139 2021
Paternal speech directed to young children with Autism Spectrum Disorders and typical development. 61
33607485 2021
COVID-19 pandemic effects in people with Autism Spectrum Disorder and their caregivers: Evaluation of social distancing and lockdown impact on mental health and general status. 61
33649707 2021
Measuring Happiness Behavior in Functional Analyses of Challenging Behavior for Children with Autism Spectrum Disorder. 61
31565953 2021
Evaluation of sex differences in preschool children with and without autism spectrum disorder enrolled in the study to explore early development. 61
33610079 2021
Role of PKA/CREB/BDNF signaling in PM2.5-induced neurodevelopmental damage to the hippocampal neurons of rats. 61
33640725 2021
Autism Spectrum Disorder: Signaling Pathways and Prospective Therapeutic Targets. 61
32468442 2021
Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant. 61
33494955 2021
Forebrain expression of serine racemase during postnatal development. 61
33592203 2021
Participation predictors for leisure-time physical activity intervention in children with cerebral palsy. 61
33386633 2021
Future perspectives of robot psychiatry: can communication robots assist psychiatric evaluation in the COVID-19 pandemic era? 61
33560019 2021
Language evolution: examining the link between cross-modality and aggression through the lens of disorders. 61
33745319 2021

Variations for Autism Spectrum Disorder

ClinVar genetic disease variations for Autism Spectrum Disorder:

6 (show top 50) (show all 557)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WWOX Deletion association 236337 GRCh37:
2 overlap with 3 genes Duplication association 236386 GRCh37: 16:77967322-78604831
3 WWOX Deletion association 236338 GRCh37:
4 WWOX Deletion association 236387 GRCh37: 16:78939658-79076810
GRCh38: 16:78905761-79042913
5 overlap with 4 genes Duplication association 236384 GRCh37: 16:77626860-78140002
6 WWOX Duplication association 236336 GRCh37:
7 overlap with 3 genes Duplication association 236385 GRCh37: 16:77961259-78463424
8 WWOX Duplication association 236339 GRCh37:
9 POGZ NM_015100.4(POGZ):c.4207G>A (p.Ala1403Thr) SNV association 560551 rs1452048149 GRCh37: 1:151377304-151377304
GRCh38: 1:151404828-151404828
10 POGZ NM_015100.4(POGZ):c.4132A>C (p.Thr1378Pro) SNV association 560552 rs370498156 GRCh37: 1:151377379-151377379
GRCh38: 1:151404903-151404903
11 POGZ NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) SNV association 445612 rs142860188 GRCh37: 1:151377422-151377422
GRCh38: 1:151404946-151404946
12 POGZ NM_015100.4(POGZ):c.4042G>C (p.Glu1348Gln) SNV association 560553 rs756691187 GRCh37: 1:151377469-151377469
GRCh38: 1:151404993-151404993
13 POGZ NM_015100.4(POGZ):c.3880T>C (p.Ser1294Pro) SNV association 560554 rs1484207450 GRCh37: 1:151377631-151377631
GRCh38: 1:151405155-151405155
14 POGZ NM_015100.4(POGZ):c.3806A>G (p.Lys1269Arg) SNV association 560555 rs1557863430 GRCh37: 1:151377705-151377705
GRCh38: 1:151405229-151405229
15 POGZ NM_015100.4(POGZ):c.3802A>G (p.Ile1268Val) SNV association 560556 rs1557863440 GRCh37: 1:151377709-151377709
GRCh38: 1:151405233-151405233
16 POGZ NM_015100.4(POGZ):c.3772A>T (p.Ser1258Cys) SNV association 560557 rs1557863546 GRCh37: 1:151377739-151377739
GRCh38: 1:151405263-151405263
17 POGZ NM_015100.4(POGZ):c.3659A>G (p.Gln1220Arg) SNV association 560558 rs769581210 GRCh37: 1:151377852-151377852
GRCh38: 1:151405376-151405376
18 POGZ NM_015100.4(POGZ):c.3607G>A (p.Glu1203Lys) SNV association 560559 rs756483529 GRCh37: 1:151377904-151377904
GRCh38: 1:151405428-151405428
19 POGZ NM_015100.4(POGZ):c.3559C>T (p.Pro1187Ser) SNV association 560560 rs202098093 GRCh37: 1:151377952-151377952
GRCh38: 1:151405476-151405476
20 POGZ NM_015100.4(POGZ):c.3388T>G (p.Leu1130Val) SNV association 560561 rs1276388879 GRCh37: 1:151378123-151378123
GRCh38: 1:151405647-151405647
21 POGZ NM_015100.4(POGZ):c.3373A>G (p.Ile1125Val) SNV association 560562 rs760211123 GRCh37: 1:151378138-151378138
GRCh38: 1:151405662-151405662
22 POGZ NM_015100.4(POGZ):c.3343C>G (p.Gln1115Glu) SNV association 560563 rs778792467 GRCh37: 1:151378168-151378168
GRCh38: 1:151405692-151405692
23 POGZ NM_015100.4(POGZ):c.3116G>A (p.Arg1039His) SNV association 560564 rs760059077 GRCh37: 1:151378395-151378395
GRCh38: 1:151405919-151405919
24 POGZ NM_015100.4(POGZ):c.2792C>T (p.Pro931Leu) SNV association 560565 rs373783340 GRCh37: 1:151378719-151378719
GRCh38: 1:151406243-151406243
25 POGZ NM_015100.4(POGZ):c.2705C>T (p.Thr902Ile) SNV association 560566 rs1557867853 GRCh37: 1:151378806-151378806
GRCh38: 1:151406330-151406330
26 POGZ NM_015100.4(POGZ):c.2608G>A (p.Val870Met) SNV association 560567 rs772572695 GRCh37: 1:151378903-151378903
GRCh38: 1:151406427-151406427
27 POGZ NM_015100.4(POGZ):c.2591G>A (p.Arg864Gln) SNV association 560568 rs753214391 GRCh37: 1:151378920-151378920
GRCh38: 1:151406444-151406444
28 POGZ NM_015100.4(POGZ):c.2557A>G (p.Ile853Val) SNV association 560569 rs749270162 GRCh37: 1:151379096-151379096
GRCh38: 1:151406620-151406620
29 POGZ NM_015100.4(POGZ):c.2542C>T (p.Arg848Trp) SNV association 560570 rs548226228 GRCh37: 1:151379390-151379390
GRCh38: 1:151406914-151406914
30 POGZ NM_015100.4(POGZ):c.2396G>A (p.Ser799Asn) SNV association 560571 rs1557870645 GRCh37: 1:151379747-151379747
GRCh38: 1:151407271-151407271
31 POGZ NM_015100.4(POGZ):c.1978A>G (p.Lys660Glu) SNV association 560572 rs1418634444 GRCh37: 1:151381253-151381253
GRCh38: 1:151408777-151408777
32 POGZ NM_015100.4(POGZ):c.1948A>C (p.Asn650His) SNV association 560573 rs1557874046 GRCh37: 1:151381283-151381283
GRCh38: 1:151408807-151408807
33 POGZ NM_015100.4(POGZ):c.1940A>C (p.Tyr647Ser) SNV association 560574 rs749548928 GRCh37: 1:151381291-151381291
GRCh38: 1:151408815-151408815
34 POGZ NM_015100.4(POGZ):c.1549G>A (p.Val517Ile) SNV association 560575 rs754532606 GRCh37: 1:151396002-151396002
GRCh38: 1:151423526-151423526
35 POGZ NM_015100.4(POGZ):c.1445C>G (p.Ala482Gly) SNV association 560576 rs1557901347 GRCh37: 1:151396503-151396503
GRCh38: 1:151424027-151424027
36 POGZ NM_015100.4(POGZ):c.1427G>A (p.Arg476Gln) SNV association 560577 rs763820362 GRCh37: 1:151396521-151396521
GRCh38: 1:151424045-151424045
37 POGZ NM_015100.4(POGZ):c.1318C>G (p.Pro440Ala) SNV association 560579 rs1557902023 GRCh37: 1:151396630-151396630
GRCh38: 1:151424154-151424154
38 POGZ NM_015100.4(POGZ):c.1072A>G (p.Met358Val) SNV association 560580 rs574158925 GRCh37: 1:151400305-151400305
GRCh38: 1:151427829-151427829
39 POGZ NM_015100.4(POGZ):c.970C>G (p.Leu324Val) SNV association 560581 rs1557909572 GRCh37: 1:151400407-151400407
GRCh38: 1:151427931-151427931
40 POGZ NM_015100.4(POGZ):c.942C>G (p.Ser314Arg) SNV association 560582 rs574335012 GRCh37: 1:151400435-151400435
GRCh38: 1:151427959-151427959
41 POGZ NM_015100.4(POGZ):c.902T>C (p.Phe301Ser) SNV association 560583 rs1557909821 GRCh37: 1:151400475-151400475
GRCh38: 1:151427999-151427999
42 POGZ NM_015100.4(POGZ):c.860C>T (p.Ala287Val) SNV association 560584 rs1372713010 GRCh37: 1:151400517-151400517
GRCh38: 1:151428041-151428041
43 POGZ NM_015100.4(POGZ):c.830A>G (p.Gln277Arg) SNV association 560585 rs561369202 GRCh37: 1:151400628-151400628
GRCh38: 1:151428152-151428152
44 POGZ NM_015100.4(POGZ):c.794C>G (p.Thr265Ser) SNV association 560586 rs1476293577 GRCh37: 1:151400664-151400664
GRCh38: 1:151428188-151428188
45 POGZ NM_015100.4(POGZ):c.757C>T (p.Pro253Ser) SNV association 560587 rs926772662 GRCh37: 1:151400701-151400701
GRCh38: 1:151428225-151428225
46 POGZ NM_015100.4(POGZ):c.749A>G (p.Lys250Arg) SNV association 560588 rs1557910728 GRCh37: 1:151400709-151400709
GRCh38: 1:151428233-151428233
47 POGZ NM_015100.4(POGZ):c.625A>T (p.Met209Leu) SNV association 560589 rs1557911386 GRCh37: 1:151400833-151400833
GRCh38: 1:151428357-151428357
48 POGZ NM_015100.4(POGZ):c.499A>G (p.Met167Val) SNV association 560590 rs375045125 GRCh37: 1:151402148-151402148
GRCh38: 1:151429672-151429672
49 POGZ NM_015100.4(POGZ):c.319C>G (p.Leu107Val) SNV association 560591 rs998675361 GRCh37: 1:151403282-151403282
GRCh38: 1:151430806-151430806
50 POGZ NM_015100.4(POGZ):c.303G>T (p.Gln101His) SNV association 560592 rs1557916296 GRCh37: 1:151403298-151403298
GRCh38: 1:151430822-151430822

Expression for Autism Spectrum Disorder

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

Pathways for Autism Spectrum Disorder

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 ionotropic glutamate receptor complex GO:0008328 8.62 SHANK3 SHANK2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 learning GO:0007612 9.65 SHANK3 SHANK2 NLGN3
2 synapse assembly GO:0007416 9.63 SHANK3 SHANK2 NLGN3
3 dendritic spine morphogenesis GO:0060997 9.54 SHANK3 SHANK2
4 adult behavior GO:0030534 9.54 SHANK3 SHANK2 NLGN3
5 long-term synaptic depression GO:0060292 9.52 SHANK3 SHANK2
6 behavior GO:0007610 9.51 SHANK3 SHANK2
7 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.5 SHANK3 SHANK2 NLGN3
8 positive regulation of AMPA receptor activity GO:2000969 9.49 SHANK3 NLGN3
9 synaptic growth at neuromuscular junction GO:0051124 9.43 SHANK3 SHANK2
10 positive regulation of excitatory postsynaptic potential GO:2000463 9.43 SHANK3 SHANK2 NLGN3
11 postsynaptic density assembly GO:0097107 9.4 SHANK3 SHANK2
12 regulation of AMPA receptor activity GO:2000311 9.33 SHANK3 SHANK2 MEF2C
13 vocalization behavior GO:0071625 9.13 SHANK3 SHANK2 NLGN3
14 social behavior GO:0035176 8.92 SHANK3 SHANK2 NLGN3 CHD8

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

# Name GO ID Score Top Affiliating Genes
1 scaffold protein binding GO:0097110 9.13 SHANK3 NLGN3 MAP2K1
2 GKAP/Homer scaffold activity GO:0030160 8.62 SHANK3 SHANK2

Sources for Autism Spectrum Disorder

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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