AUTS10
MCID: ATS172
MIFTS: 12

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 58 6
Autism, Susceptibility to, 10 58
Auts10 58

Classifications:



External Ids:

OMIM 58 611016

Summaries for Autism 10

OMIM : 58 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).

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

Publications for Autism 10

Articles related to Autism 10:

# Title Authors Year
1
Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. ( 16252243 )
2005
2
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder. ( 15024396 )
2004

Variations for Autism 10

ClinVar genetic disease variations for Autism 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EN2 NM_001427.3(EN2): c.686-1073G> A single nucleotide variant Uncertain significance rs1861972 GRCh37 Chromosome 7, 155253993: 155253993
2 EN2 NM_001427.3(EN2): c.686-1073G> A single nucleotide variant Uncertain significance rs1861972 GRCh38 Chromosome 7, 155461298: 155461298
3 EN2 NM_001427.3(EN2): c.686-921T> C single nucleotide variant Uncertain significance rs1861973 GRCh37 Chromosome 7, 155254145: 155254145
4 EN2 NM_001427.3(EN2): c.686-921T> C single nucleotide variant Uncertain significance rs1861973 GRCh38 Chromosome 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

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