MCID: ATS376
MIFTS: 13

Autism 15

Categories: Genetic diseases, Mental diseases, Rare diseases

Aliases & Classifications for Autism 15

MalaCards integrated aliases for Autism 15:

Name: Autism 15 53 71 28
Autism Susceptibility 15 53 13
Auts15 53 71
Autism, Susceptibility to, 15 53

Classifications:



External Ids:

OMIM 53 612100
MedGen 39 C2677504
MeSH 41 D001321

Summaries for Autism 15

OMIM : 53 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. (612100)

MalaCards based summary : Autism 15, is also known as autism susceptibility 15. An important gene associated with Autism 15 is CNTNAP2 (Contactin Associated Protein Like 2).

UniProtKB/Swiss-Prot : 71 Autism 15: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.

Related Diseases for Autism 15

Symptoms & Phenotypes for Autism 15

Clinical features from OMIM:

612100

Drugs & Therapeutics for Autism 15

Search Clinical Trials , NIH Clinical Center for Autism 15

Genetic Tests for Autism 15

Genetic tests related to Autism 15:

# Genetic test Affiliating Genes
1 Autism 15 28 CNTNAP2

Anatomical Context for Autism 15

Publications for Autism 15

Variations for Autism 15

UniProtKB/Swiss-Prot genetic disease variations for Autism 15:

71
# Symbol AA change Variation ID SNP ID
1 CNTNAP2 p.Ile869Thr VAR_046239 rs121908445

ClinVar genetic disease variations for Autism 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CNTNAP2 NM_014141.5(CNTNAP2): c.2099-26267A> G single nucleotide variant risk factor rs2710102 GRCh37 Chromosome 7, 147574390: 147574390
2 CNTNAP2 NM_014141.5(CNTNAP2): c.208+18133A> T single nucleotide variant risk factor rs7794745 GRCh37 Chromosome 7, 146489606: 146489606
3 CNTNAP2 NM_014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh37 Chromosome 7, 147844634: 147844634

Expression for Autism 15

Search GEO for disease gene expression data for Autism 15.

Pathways for Autism 15

GO Terms for Autism 15

Sources for Autism 15

3 CDC
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10 dbSNP
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