MCID: ATS051
MIFTS: 14

Autism Susceptibility 15

Categories: Genetic diseases

Aliases & Classifications for Autism Susceptibility 15

MalaCards integrated aliases for Autism Susceptibility 15:

Name: Autism Susceptibility 15 54 13
Autism 15 71 29
Auts15 71

Classifications:



External Ids:

OMIM 54 612100
MedGen 40 C2677504
MeSH 42 D001321

Summaries for Autism Susceptibility 15

OMIM : 54
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 Susceptibility 15, is also known as autism 15. An important gene associated with Autism Susceptibility 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 Susceptibility 15

Symptoms & Phenotypes for Autism Susceptibility 15

Clinical features from OMIM:

612100

Drugs & Therapeutics for Autism Susceptibility 15

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Study of the Involvement of 15q11 - q13 Chromosome Region and CYFIP1 Gene in Autism. Attempt a Genotype-phenotype Correlation Completed NCT02862340

Search NIH Clinical Center for Autism Susceptibility 15

Genetic Tests for Autism Susceptibility 15

Genetic tests related to Autism Susceptibility 15:

id Genetic test Affiliating Genes
1 Autism 15 29

Anatomical Context for Autism Susceptibility 15

Publications for Autism Susceptibility 15

Variations for Autism Susceptibility 15

ClinVar genetic disease variations for Autism Susceptibility 15:

6
id 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 Susceptibility 15

Search GEO for disease gene expression data for Autism Susceptibility 15.

Pathways for Autism Susceptibility 15

GO Terms for Autism Susceptibility 15

Sources for Autism Susceptibility 15

3 CDC
7 CNVD
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10 dbSNP
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