AUTS10
MCID: ATS172
MIFTS: 17

Autism 10 (AUTS10)

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

Aliases & Classifications for Autism 10

MalaCards integrated aliases for Autism 10:

Name: Autism 10 57 6
Autism, Susceptibility to, 10 57
Auts10 57

Classifications:



External Ids:

Summaries for Autism 10

OMIM : 57 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850. (611016)

MalaCards based summary : Autism 10, is also known as autism, susceptibility to, 10. An important gene associated with Autism 10 is EN2 (Engrailed Homeobox 2). Affiliated tissues include brain, testes and breast.

Related Diseases for Autism 10

Symptoms & Phenotypes for Autism 10

Clinical features from OMIM:

611016

Drugs & Therapeutics for Autism 10

Search Clinical Trials , NIH Clinical Center for Autism 10

Genetic Tests for Autism 10

Anatomical Context for Autism 10

MalaCards organs/tissues related to Autism 10:

41
Brain, Testes, Breast

Publications for Autism 10

Articles related to Autism 10:

(show all 27)
# Title Authors PMID Year
1
Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. 8 71
16252243 2005
2
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. 8 71
15024396 2004
3
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 71
25190698 2014
4
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 71
23519317 2013
5
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. 71
20466091 2010
6
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 8
18698615 2008
7
Evidence for multiple loci from a genome scan of autism kindreds. 8
16880825 2006
8
Evidence for linkage on 21q and 7q in a subset of autism characterized by developmental regression. 8
15940295 2005
9
Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. 8
11741194 2002
10
Full-genome scans with autistic disorder: a review. 8
11529268 2001
11
A genomic screen of autism: evidence for a multilocus etiology. 8
10417292 1999
12
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 8
8655659 1996
13
Association study with two markers of a human homeogene in infantile autism. 8
7643354 1995
14
Motor proficiency differences among students with intellectual disabilities, autism, and developmental disability. 38
29740563 2018
15
Appropriateness of Using Autism Spectrum Disorders Screening Tools in a Hearing Evaluation Service. 38
27583711 2016
16
Reduced GABAergic Action in the Autistic Brain. 38
26711497 2016
17
Self and informant reports of mental health difficulties among adults with autism findings from a long-term follow-up study. 38
26014841 2015
18
The effectiveness of narrative therapy with young people with autism. 38
23351106 2013
19
Relative burden of large CNVs on a range of neurodevelopmental phenotypes. 38
22102821 2011
20
Randomized controlled trial of the focus parent training for toddlers with autism: 1-year outcome. 38
20440639 2010
21
Prevalence of autism in an urban population of adults with severe intellectual disabilities--a preliminary study. 38
20633201 2010
22
Electroencephalogram abnormalities in children with autism spectrum disorders. 38
16001817 2005
23
Epilepsy is not a prominent feature of primary autism. 38
15328558 2004
24
Opioid peptides and dipeptidyl peptidase in autism. 38
12578238 2003
25
Music therapy assessment in school settings: a preliminary investigation. 38
10932124 2000
26
Autism during infancy: a retrospective video analysis of sensory-motor and social behaviors at 9-12 months of age. 38
10425584 1999
27
[Frequency and current clinical diversity of cerebral cortical dysgenesis]. 38
9656537 1998

Variations for Autism 10

ClinVar genetic disease variations for Autism 10:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EN2 NM_001427.4(EN2): c.686-1073G> A single nucleotide variant Uncertain significance rs1861972 7:155253993-155253993 7:155461298-155461298
2 EN2 NM_001427.4(EN2): c.686-921T> C single nucleotide variant Uncertain significance rs1861973 7:155254145-155254145 7:155461450-155461450

Expression for Autism 10

Search GEO for disease gene expression data for Autism 10.

Pathways for Autism 10

GO Terms for Autism 10

Sources for Autism 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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