AUTS15
MCID: ATS376
MIFTS: 17

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

Articles related to Autism 15:

# Title Authors Year
1
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. ( 18179893 )
2008
2
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. ( 18179895 )
2008
3
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. ( 18179894 )
2008

Variations for Autism 15

ClinVar genetic disease variations for Autism 15:

6 (show top 50) (show all 56)
# 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.2099-26267A> G single nucleotide variant risk factor rs2710102 GRCh38 Chromosome 7, 147877298: 147877298
3 CNTNAP2 NM_014141.5(CNTNAP2): c.208+18133A> T single nucleotide variant risk factor rs7794745 GRCh37 Chromosome 7, 146489606: 146489606
4 CNTNAP2 NM_014141.5(CNTNAP2): c.208+18133A> T single nucleotide variant risk factor rs7794745 GRCh38 Chromosome 7, 146792514: 146792514
5 CNTNAP2 NM_014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh37 Chromosome 7, 147844634: 147844634
6 CNTNAP2 NM_014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh38 Chromosome 7, 148147542: 148147542
7 CNTNAP2 NM_014141.5(CNTNAP2): c.485T> G (p.Val162Gly) single nucleotide variant Uncertain significance rs587780320 GRCh37 Chromosome 7, 146741081: 146741081
8 CNTNAP2 NM_014141.5(CNTNAP2): c.485T> G (p.Val162Gly) single nucleotide variant Uncertain significance rs587780320 GRCh38 Chromosome 7, 147043989: 147043989
9 CNTNAP2 NM_014141.5(CNTNAP2): c.755-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369675346 GRCh37 Chromosome 7, 146818066: 146818066
10 CNTNAP2 NM_014141.5(CNTNAP2): c.755-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369675346 GRCh38 Chromosome 7, 147120974: 147120974
11 CNTNAP2 NM_014141.5(CNTNAP2): c.3595G> T (p.Ala1199Ser) single nucleotide variant Uncertain significance rs727503878 GRCh37 Chromosome 7, 148080860: 148080860
12 CNTNAP2 NM_014141.5(CNTNAP2): c.3595G> T (p.Ala1199Ser) single nucleotide variant Uncertain significance rs727503878 GRCh38 Chromosome 7, 148383768: 148383768
13 CNTNAP2 NM_014141.5(CNTNAP2): c.73G> A (p.Ala25Thr) single nucleotide variant Uncertain significance rs200866893 GRCh37 Chromosome 7, 145814041: 145814041
14 CNTNAP2 NM_014141.5(CNTNAP2): c.73G> A (p.Ala25Thr) single nucleotide variant Uncertain significance rs200866893 GRCh38 Chromosome 7, 146116949: 146116949
15 CNTNAP2 NM_014141.5(CNTNAP2): c.2242G> T (p.Asp748Tyr) single nucleotide variant Uncertain significance rs371691712 GRCh37 Chromosome 7, 147600800: 147600800
16 CNTNAP2 NM_014141.5(CNTNAP2): c.2242G> T (p.Asp748Tyr) single nucleotide variant Uncertain significance rs371691712 GRCh38 Chromosome 7, 147903708: 147903708
17 CNTNAP2 NM_014141.5(CNTNAP2): c.3355C> T (p.Arg1119Cys) single nucleotide variant Uncertain significance rs367664952 GRCh37 Chromosome 7, 147926845: 147926845
18 CNTNAP2 NM_014141.5(CNTNAP2): c.3355C> T (p.Arg1119Cys) single nucleotide variant Uncertain significance rs367664952 GRCh38 Chromosome 7, 148229753: 148229753
19 CNTNAP2 NM_014141.5(CNTNAP2): c.341G> A (p.Arg114Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs189731792 GRCh37 Chromosome 7, 146536935: 146536935
20 CNTNAP2 NM_014141.5(CNTNAP2): c.341G> A (p.Arg114Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs189731792 GRCh38 Chromosome 7, 146839843: 146839843
21 CNTNAP2 NM_014141.5(CNTNAP2): c.416A> G (p.Asn139Ser) single nucleotide variant Uncertain significance rs370517200 GRCh38 Chromosome 7, 147043920: 147043920
22 CNTNAP2 NM_014141.5(CNTNAP2): c.416A> G (p.Asn139Ser) single nucleotide variant Uncertain significance rs370517200 GRCh37 Chromosome 7, 146741012: 146741012
23 CNTNAP2 NM_014141.5(CNTNAP2): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs781338949 GRCh37 Chromosome 7, 146741032: 146741032
24 CNTNAP2 NM_014141.5(CNTNAP2): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs781338949 GRCh38 Chromosome 7, 147043940: 147043940
25 CNTNAP2 NM_014141.5(CNTNAP2): c.653C> T (p.Thr218Met) single nucleotide variant Uncertain significance rs771028883 GRCh37 Chromosome 7, 146805341: 146805341
26 CNTNAP2 NM_014141.5(CNTNAP2): c.653C> T (p.Thr218Met) single nucleotide variant Uncertain significance rs771028883 GRCh38 Chromosome 7, 147108249: 147108249
27 CNTNAP2 NM_014141.5(CNTNAP2): c.1145G> A (p.Ser382Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371839994 GRCh37 Chromosome 7, 146829398: 146829398
28 CNTNAP2 NM_014141.5(CNTNAP2): c.1145G> A (p.Ser382Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs371839994 GRCh38 Chromosome 7, 147132306: 147132306
29 CNTNAP2 NM_014141.5(CNTNAP2): c.1709C> T (p.Ser570Leu) single nucleotide variant Uncertain significance rs377627481 GRCh37 Chromosome 7, 147183065: 147183065
30 CNTNAP2 NM_014141.5(CNTNAP2): c.1709C> T (p.Ser570Leu) single nucleotide variant Uncertain significance rs377627481 GRCh38 Chromosome 7, 147485973: 147485973
31 CNTNAP2 NM_014141.5(CNTNAP2): c.1786G> A (p.Glu596Lys) single nucleotide variant Uncertain significance rs141064983 GRCh37 Chromosome 7, 147259238: 147259238
32 CNTNAP2 NM_014141.5(CNTNAP2): c.1786G> A (p.Glu596Lys) single nucleotide variant Uncertain significance rs141064983 GRCh38 Chromosome 7, 147562146: 147562146
33 CNTNAP2 NM_014141.5(CNTNAP2): c.2123T> C (p.Val708Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148453565 GRCh37 Chromosome 7, 147600681: 147600681
34 CNTNAP2 NM_014141.5(CNTNAP2): c.2123T> C (p.Val708Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs148453565 GRCh38 Chromosome 7, 147903589: 147903589
35 CNTNAP2 NM_014141.5(CNTNAP2): c.2239G> A (p.Ala747Thr) single nucleotide variant Uncertain significance rs150530671 GRCh37 Chromosome 7, 147600797: 147600797
36 CNTNAP2 NM_014141.5(CNTNAP2): c.2239G> A (p.Ala747Thr) single nucleotide variant Uncertain significance rs150530671 GRCh38 Chromosome 7, 147903705: 147903705
37 CNTNAP2 NM_014141.5(CNTNAP2): c.2955C> A (p.His985Gln) single nucleotide variant Uncertain significance rs138257598 GRCh38 Chromosome 7, 148172423: 148172423
38 CNTNAP2 NM_014141.5(CNTNAP2): c.2955C> A (p.His985Gln) single nucleotide variant Uncertain significance rs138257598 GRCh37 Chromosome 7, 147869515: 147869515
39 CNTNAP2 NM_014141.5(CNTNAP2): c.3155G> A (p.Arg1052His) single nucleotide variant Uncertain significance rs374739970 GRCh37 Chromosome 7, 147914524: 147914524
40 CNTNAP2 NM_014141.5(CNTNAP2): c.3155G> A (p.Arg1052His) single nucleotide variant Uncertain significance rs374739970 GRCh38 Chromosome 7, 148217432: 148217432
41 CNTNAP2 NM_014141.5(CNTNAP2): c.3179C> T (p.Ala1060Val) single nucleotide variant Uncertain significance rs369254596 GRCh37 Chromosome 7, 147914548: 147914548
42 CNTNAP2 NM_014141.5(CNTNAP2): c.3179C> T (p.Ala1060Val) single nucleotide variant Uncertain significance rs369254596 GRCh38 Chromosome 7, 148217456: 148217456
43 CNTNAP2 NM_014141.5(CNTNAP2): c.3758T> C (p.Ile1253Thr) single nucleotide variant Uncertain significance rs767821521 GRCh37 Chromosome 7, 148106525: 148106525
44 CNTNAP2 NM_014141.5(CNTNAP2): c.3758T> C (p.Ile1253Thr) single nucleotide variant Uncertain significance rs767821521 GRCh38 Chromosome 7, 148409433: 148409433
45 CNTNAP2 NM_014141.5(CNTNAP2): c.3106G> A (p.Ala1036Thr) single nucleotide variant Uncertain significance rs545175315 GRCh38 Chromosome 7, 148217383: 148217383
46 CNTNAP2 NM_014141.5(CNTNAP2): c.3106G> A (p.Ala1036Thr) single nucleotide variant Uncertain significance rs545175315 GRCh37 Chromosome 7, 147914475: 147914475
47 CNTNAP2 NM_014141.5(CNTNAP2): c.3289C> T (p.Pro1097Ser) single nucleotide variant Uncertain significance rs200823464 GRCh38 Chromosome 7, 148229687: 148229687
48 CNTNAP2 NM_014141.5(CNTNAP2): c.3289C> T (p.Pro1097Ser) single nucleotide variant Uncertain significance rs200823464 GRCh37 Chromosome 7, 147926779: 147926779
49 CNTNAP2 NM_014141.5(CNTNAP2): c.3010G> A (p.Asp1004Asn) single nucleotide variant Uncertain significance rs748508785 GRCh37 Chromosome 7, 147869570: 147869570
50 CNTNAP2 NM_014141.5(CNTNAP2): c.3010G> A (p.Asp1004Asn) single nucleotide variant Uncertain significance rs748508785 GRCh38 Chromosome 7, 148172478: 148172478

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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