MCID: ATS007
MIFTS: 56

Autism Spectrum Disorder malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Autism Spectrum Disorder

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Autism Spectrum Disorder, Aliases & Descriptions:

Name: Autism Spectrum Disorder 9 32
Autism Spectrum Disorders 19 41 20 22 3 60
 
Asd 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

Disease Ontology9 DOID:0060041

Summaries for Autism Spectrum Disorder

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MedlinePlus:32 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 asperger syndrome and prader-willi 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 SHANK3 (SH3 and multiple ankyrin repeat domains 3), and among its related pathways are Cell adhesion molecules (CAMs) and GABA signaling in brain. Affiliated tissues include eye, testes and brain, and related mouse phenotypes are no phenotypic analysis and nervous system.

Disease Ontology:9 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.

NIH Rare Diseases:41 Autism spectrum disorders (asd) are a group of developmental conditions characterized by social impairments, communication difficulties, and restricted, repetitive, and stereotyped patterns of behavior. autistic disorder, sometimes called autism or classical asd, is the most severe form of asd, while other conditions along the spectrum include a milder form known as asperger syndrome as well as childhood disintegrative disorder and pervasive developmental disorder not otherwise specified (pdd-nos). although asd varies significantly in features and severity, it occurs worldwide and affects every age group. experts estimate that 1 out of 110 children will have an asd.  males are more likely to have an asd than females. last updated: 10/19/2011

Wikipedia:63 The autism spectrum or autistic spectrum describes a range of conditions classified as... more...

GeneReviews summary for autism-overview

Related Diseases for Autism Spectrum Disorder

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Diseases in the Autism Spectrum Disorder family:

Autism 19 Autism 18

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

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1asperger syndrome31.3NLGN4X, NLGN3, SHANK3
2prader-willi syndrome30.8AGRP, SNRPN
3atypical autism30.7NLGN4X, NLGN3
4autistic disorder30.5NLGN4X, NLGN3
5mental retardation30.4SHANK3, SNRPN, NLGN3, NLGN4X
6attention deficit-hyperactivity disorder10.8
7fragile x syndrome10.8
8schizophrenia10.7
9developmental disabilities10.7
10rett syndrome10.5
11cerebritis10.5
12neurofibromatosis, type 110.4
13neurofibromatosis10.4
14neuronitis10.4
15tuberous sclerosis10.4
16down syndrome10.4
17learning disability10.4
18blindness10.4
19nicotine dependence, protection against10.4NRXN3
20bipolar disorder10.4
21cerebral palsy10.4
22rubella10.4
23developmental coordination disorder10.4
24fetal alcohol spectrum disorder10.4
25childhood-onset schizophrenia10.4
26developmental delay with autism spectrum disorder and gait instability10.4
27autism spectrum disorder-epilepsy-arthrogryposis syndrome10.4
28autism spectrum disorder due to auts2 deficiency10.4
29adnp-related multiple congenital anomalies-intellectual disability-autism spectrum disorder10.4
30hyperprolactinemia10.3
31smith-lemli-opitz syndrome10.3
32obsessive-compulsive disorder10.3
33anorexia nervosa10.3
34brain injury10.3
35borna disease10.3
36conduct disorder10.3
37measles10.3
38mumps10.3
39bipolar i disorder10.3
40astrocytoma10.3
41eating disorder10.3
42gender identity disorder10.3
43pervasive developmental disorder10.3
44tic disorder10.3
45pilocytic astrocytoma10.3
46endotheliitis10.3
47patent foramen ovale10.2
48atrial septal defect ostium primum10.2
49intellectual disability multi-gene panels10.2SHANK3, NLGN4X
50atrial septal defect sinus venosus10.2

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



Diseases related to autism spectrum disorder

Symptoms for Autism Spectrum Disorder

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Symptoms:

 9
  • widespread abnormalities of social interactions
  • severely restricted interests
  • highly repetitive behavior

Drugs & Therapeutics for Autism Spectrum Disorder

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Drug clinical trials:

Search ClinicalTrials for Autism Spectrum Disorder

Search NIH Clinical Center for Autism Spectrum Disorder

Genetic Tests for Autism Spectrum Disorder

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Genetic tests related to Autism Spectrum Disorder:

id Genetic test Affiliating Genes
1 Autism Spectrum Disorders20 22 NLGN3, NLGN4X, RPL10, SHANK2, SHANK3, SNRPN

Anatomical Context for Autism Spectrum Disorder

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MalaCards organs/tissues related to Autism Spectrum Disorder:

31
Eye, Testes, Brain, Prostate, Cortex, Skin, Amygdala, Cerebellum, Endothelial, Heart, Myeloid, Prefrontal cortex

Animal Models for Autism Spectrum Disorder or affiliated genes

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MGI Mouse Phenotypes related to Autism Spectrum Disorder:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.7AGRP, HOXD@, SHANK2, SHANK3, NRXN3, NLGN3
2MP:00036319.5SHANK2, SHANK3, DRD5, NRXN3, NLGN3, EN2
3MP:00028739.5HOXD@, LRRTM1, SNRPN, DRD5, NRXN3, NLGN3
4MP:00053869.2LRRTM1, SHANK2, SHANK3, SNRPN, CARTPT, NLGN3

Publications for Autism Spectrum Disorder

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Articles related to Autism Spectrum Disorder:

(show top 50)    (show all 847)
idTitleAuthorsYear
1
Longitudinal Volumetric Brain Changes in Autism Spectrum Disorder Ages 6-35 Years. (25381736)
2014
2
Interest level in 2-year-olds with autism spectrum disorder predicts rate of verbal, nonverbal, and adaptive skill acquisition. (25398893)
2014
3
Comparing Diagnostic Outcomes of Autism Spectrum Disorder Using DSM-IV-TR and DSM-5 Criteria. (25384720)
2014
4
A blueprint for research on Shankopathies: A view from research on autism spectrum disorder. (24218108)
2014
5
Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion. (25182979)
2014
6
The relationship of motor skills and social communicative skills in school-aged children with autism spectrum disorder. (23860508)
2013
7
Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome. (23792373)
2013
8
Abnormality in face scanning by children with autism spectrum disorder is limited to the eye region: evidence from multi-method analyses of eye tracking data. (23929830)
2013
9
Neuroimaging Findings in 41 Low-Functioning Children With Autism Spectrum Disorder: A Single-Center Experience. (24346312)
2013
10
Intrinsic gray-matter connectivity of the brain in adults with autism spectrum disorder. (23878213)
2013
11
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. (23615299)
2013
12
What We Have Learned about Autism Spectrum Disorder from Valproic Acid. (24381784)
2013
13
Body mass index, dietary intake and feeding problems of Turkish children with autism spectrum disorder (ASD). (24029808)
2013
14
Safely transporting children with autism spectrum disorder: evaluation and intervention. (24195905)
2013
15
Copy-number variation in the pathogenesis of autism spectrum disorder. (24372918)
2013
16
A comparison study of depression and quality of life in Turkish mothers of children with Down syndrome, cerebral palsy, and autism spectrum disorder. (23654042)
2013
17
Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder. (24155217)
2013
18
Speech intonation in children with autism spectrum disorder. (23973369)
2013
19
MTHFR 1298A>C is a risk factor for autism spectrum disorder in the Korean population. (24295761)
2013
20
Follow-up at mid-school age (9-13 years) of children assessed for autism spectrum disorder before the age of four. (24199947)
2013
21
Autonomic Responses to Social and Nonsocial Pictures in Adolescents With Autism Spectrum Disorder. (24022989)
2013
22
Autism spectrum disorder symptomatology in children with neurofibromatosis type 1. (23320572)
2013
23
Group-based social skills interventions for adolescents with higher-functioning autism spectrum disorder: a review and looking to the future. (23956616)
2013
24
Tract-based spatial statistics reveal altered relationship between non-verbal reasoning abilities and white matter integrity in autism spectrum disorder. (23561717)
2013
25
Developing zebrafish models of autism spectrum disorder (ASD). (24315837)
2013
26
Pet Dog Ownership Decisions for Parents of Children With Autism Spectrum Disorder. (24183985)
2013
27
ADHD, autism spectrum disorder, temperament, and character: phenotypical associations and etiology in a Swedish childhood twin study. (23790516)
2013
28
Features of feeding difficulty in children with Autism Spectrum Disorder. (24001171)
2013
29
Development and Evaluation of Educational Materials for Pre-hospital and Emergency Department Personnel on the Care of Patients with Autism Spectrum Disorder. (24091472)
2013
30
Self-injurious behaviours are associated with alterations in the somatosensory system in children with autism spectrum disorder. (23644587)
2013
31
Atypical pupillary light reflex and heart rate variability in children with autism spectrum disorder. (23248075)
2013
32
Abnormal pre-attentive arousal in young children with autism spectrum disorder contributes to their atypical auditory behavior: an ERP study. (23935931)
2013
33
Proposed changes to the American Psychiatric Association diagnostic criteria for autism spectrum disorder: implications for young children and their families. (23456348)
2013
34
Co-morbidity and factor analysis on attention deficit hyperactivity disorder and autism spectrum disorder DSM-IV-derived items. (23267399)
2012
35
Psychiatric-related emergency department visits among children with an autism spectrum disorder. (23187983)
2012
36
Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population. (22378669)
2012
37
Visual Scanning Patterns during the Dimensional Change Card Sorting Task in Children with Autism Spectrum Disorder. (23050145)
2012
38
Gene and miRNA expression profiles in autism spectrum disorders. (20868653)
2011
39
HLA polymorphisms in Italian children with autism spectrum disorders: results of a family based linkage study. (21084121)
2011
40
Congenital rubella syndrome and autism spectrum disorder prevented by rubella vaccination--United States, 2001-2010. (21592401)
2011
41
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. (21114665)
2011
42
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. (21981781)
2011
43
Polymorphisms in leucine-rich repeat genes are associated with autism spectrum disorder susceptibility in populations of European ancestry. (20678249)
2010
44
Decreased serum arylesterase activity in autism spectrum disorders. (20488557)
2010
45
Anxiety symptoms in boys with autism spectrum disorder, attention-deficit hyperactivity disorder, or chronic multiple tic disorder and community controls. (20143146)
2010
46
Family-based association study between NOS-I and -IIA polymorphisms and autism spectrum disorders in Korean trios. (18563708)
2009
47
Disruption of neurexin 1 associated with autism spectrum disorder. (18179900)
2008
48
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders. (18393381)
2008
49
Re-examining the core features of autism: a comparison of autism spectrum disorder and fetal alcohol spectrum disorder. (17995487)
2007
50
Autism spectrum disorders associated with X chromosome markers in French-Canadian males. (16261168)
2006

Variations for Autism Spectrum Disorder

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Expression for genes affiliated with Autism Spectrum Disorder

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LifeMap Discovery
Genes differentially expressed in tissues of Autism Spectrum Disorder patients vs. healthy controls: 30 (show all 19)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1PARM1prostate androgen-regulated mucin-like protein 1Blood-3.220.042
2EMP2epithelial membrane protein 2Blood-3.220.001
3PREX2phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2Blood-3.210.032
4DNHD1dynein heavy chain domain 1Blood-3.210.026
5ST7-AS2ST7 antisense RNA 2Blood-3.200.033
6B3GALT2UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2Blood-3.200.037
7HLA-DOAmajor histocompatibility complex, class II, DO alphaBlood-3.160.001
8DNAH6dynein, axonemal, heavy chain 6Blood-3.150.011
9RGL3ral guanine nucleotide dissociation stimulator-like 3Blood-3.120.025
10PLCE1phospholipase C, epsilon 1Blood-3.120.001
11FAM83Cfamily with sequence similarity 83, member CBlood-3.100.048
12MICALL2MICAL-like 2Blood-3.100.023
13CAPRIN2caprin family member 2Blood-3.100.000
14COX11cytochrome c oxidase assembly homolog 11 (yeast)Blood-3.080.009
15ADAM22ADAM metallopeptidase domain 22Blood-3.080.019
16UNC80unc-80 homolog (C. elegans)Blood-3.070.007
17INTS1integrator complex subunit 1Blood-3.070.009
18NT5E5'-nucleotidase, ecto (CD73)Blood-3.050.048
19IL6STinterleukin 6 signal transducer (gp130, oncostatin M receptor)Blood-3.040.019

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

Pathways for genes affiliated with Autism Spectrum Disorder

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2NLGN4X, NLGN3, NRXN3

Compounds for genes affiliated with Autism Spectrum Disorder

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GO Terms for genes affiliated with Autism Spectrum Disorder

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

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:003152610.3DRD5, SHANK2
2excitatory synapseGO:006007610.0NLGN4X, NLGN3, LRRTM1
3ciliary membraneGO:006017010.0SHANK3, SHANK2
4postsynaptic membraneGO:00452119.8LRRTM1, LRRTM3, SHANK2, SHANK3, NLGN4X
5cell junctionGO:00300549.8NLGN4X, NLGN3, SHANK3, SHANK2, LRRTM3, LRRTM1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of long-term synaptic potentiationGO:0190027110.5SHANK3, NLGN3
2positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activityGO:0200096910.5NLGN3, SHANK3
3presynaptic membrane assemblyGO:009710510.4NLGN3, NLGN4X
4neuron cell-cell adhesionGO:000715810.4NRXN3, NLGN3, NLGN4X
5regulation of dendritic spine morphogenesisGO:006100110.4SHANK3, NLGN3
6synapse assemblyGO:000741610.3NLGN3, NRXN3, SHANK3, SHANK2
7synapse organizationGO:005080810.3NLGN4X, NLGN3, LRRTM1
8positive regulation of excitatory postsynaptic membrane potentialGO:0200046310.3NLGN3, SHANK3
9adult feeding behaviorGO:000834310.3CARTPT, AGRP
10vocalization behaviorGO:007162510.3NLGN4X, NLGN3, NRXN3, SHANK3, SHANK2
11adult behaviorGO:003053410.3SHANK2, SHANK3, NRXN3, NLGN3, NLGN4X
12positive regulation of synapse assemblyGO:005196510.3NLGN3, NRXN3
13social behaviorGO:003517610.3SHANK2, SHANK3, NRXN3, NLGN3, NLGN4X
14learningGO:000761210.2SHANK2, SHANK3, NRXN3, NLGN3, NLGN4X
15long term synaptic depressionGO:006029210.2SHANK2, DRD5
16positive regulation of synaptic transmission, glutamatergicGO:005196810.0NLGN3, SHANK3

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

idNameGO IDScoreTop Affiliating Genes
1GKAP/Homer scaffold activityGO:003016010.3SHANK3, SHANK2
2cell adhesion molecule bindingGO:005083910.2NLGN4X, NLGN3, NRXN3
3neurexin family protein bindingGO:004204310.2NLGN3, NLGN4X
4receptor activityGO:000487210.2NLGN4X, NLGN3, NRXN3
5ionotropic glutamate receptor bindingGO:003525510.0SHANK3, SHANK2

Products for genes affiliated with Autism Spectrum Disorder

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Sources for Autism Spectrum Disorder

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet