AUTS15
MCID: ATS376
MIFTS: 15

Autism 15 (AUTS15)

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

Aliases & Classifications for Autism 15

MalaCards integrated aliases for Autism 15:

Name: Autism 15 58 76 30 6
Autism Susceptibility 15 58 13
Auts15 58 76
Autism, Susceptibility to, Type 15 41
Autism, Susceptibility to, 15 58

Classifications:



External Ids:

OMIM 58 612100
MeSH 45 D001321
MedGen 43 C2677504

Summaries for Autism 15

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. (612100)

MalaCards based summary : Autism 15, also known as autism susceptibility 15, is related to pitt-hopkins-like syndrome and focal epilepsy. An important gene associated with Autism 15 is CNTNAP2 (Contactin Associated Protein Like 2).

UniProtKB/Swiss-Prot : 76 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

Diseases in the Autism family:

Autism 8 Autism 3
Autism 6 Autism 7
Autism 11 Autism 12
Autism 13 Autism 9
Autism 10 Autism 15
Autism 16 Autism 17
Autism 18 Autism 19
Autism Spectrum Disorder

Diseases related to Autism 15 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pitt-hopkins-like syndrome 9.6 CNTNAP2 LOC105375554
2 focal epilepsy 9.5 CNTNAP2 LOC105375554

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 30 CNTNAP2

Anatomical Context for Autism 15

Publications for Autism 15

Variations for Autism 15

ClinVar genetic disease variations for Autism 15:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNTNAP2 NM_014141.5(CNTNAP2): c.3355C> T (p.Arg1119Cys) single nucleotide variant Uncertain significance rs367664952 GRCh37 Chromosome 7, 147926845: 147926845
2 CNTNAP2 NM_014141.5(CNTNAP2): c.3355C> T (p.Arg1119Cys) single nucleotide variant Uncertain significance rs367664952 GRCh38 Chromosome 7, 148229753: 148229753
3 CNTNAP2 NM_014141.5(CNTNAP2): c.341G> A (p.Arg114Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs189731792 GRCh37 Chromosome 7, 146536935: 146536935
4 CNTNAP2 NM_014141.5(CNTNAP2): c.341G> A (p.Arg114Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs189731792 GRCh38 Chromosome 7, 146839843: 146839843
5 CNTNAP2 NM_014141.5(CNTNAP2): c.1145G> A (p.Ser382Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371839994 GRCh37 Chromosome 7, 146829398: 146829398
6 CNTNAP2 NM_014141.5(CNTNAP2): c.1145G> A (p.Ser382Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371839994 GRCh38 Chromosome 7, 147132306: 147132306
7 CNTNAP2 NM_014141.5(CNTNAP2): c.2123T> C (p.Val708Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148453565 GRCh37 Chromosome 7, 147600681: 147600681
8 CNTNAP2 NM_014141.5(CNTNAP2): c.2123T> C (p.Val708Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148453565 GRCh38 Chromosome 7, 147903589: 147903589
9 CNTNAP2 NM_014141.5(CNTNAP2): c.3758T> C (p.Ile1253Thr) single nucleotide variant Uncertain significance rs767821521 GRCh37 Chromosome 7, 148106525: 148106525
10 CNTNAP2 NM_014141.5(CNTNAP2): c.3758T> C (p.Ile1253Thr) single nucleotide variant Uncertain significance rs767821521 GRCh38 Chromosome 7, 148409433: 148409433
11 CNTNAP2 NM_014141.5(CNTNAP2): c.2099-26267A> G single nucleotide variant risk factor rs2710102 GRCh37 Chromosome 7, 147574390: 147574390
12 CNTNAP2 NM_014141.5(CNTNAP2): c.2099-26267A> G single nucleotide variant risk factor rs2710102 GRCh38 Chromosome 7, 147877298: 147877298
13 CNTNAP2 NM_014141.5(CNTNAP2): c.208+18133A> T single nucleotide variant risk factor rs7794745 GRCh37 Chromosome 7, 146489606: 146489606
14 CNTNAP2 NM_014141.5(CNTNAP2): c.208+18133A> T single nucleotide variant risk factor rs7794745 GRCh38 Chromosome 7, 146792514: 146792514
15 CNTNAP2 NM_014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh37 Chromosome 7, 147844634: 147844634
16 CNTNAP2 NM_014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh38 Chromosome 7, 148147542: 148147542
17 CNTNAP2 NM_014141.5(CNTNAP2): c.485T> G (p.Val162Gly) single nucleotide variant Uncertain significance rs587780320 GRCh37 Chromosome 7, 146741081: 146741081
18 CNTNAP2 NM_014141.5(CNTNAP2): c.485T> G (p.Val162Gly) single nucleotide variant Uncertain significance rs587780320 GRCh38 Chromosome 7, 147043989: 147043989

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

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