AUTS15
MCID: ATS376
MIFTS: 23

Autism 15 (AUTS15)

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

Aliases & Classifications for Autism 15

MalaCards integrated aliases for Autism 15:

Name: Autism 15 57 72 29 6
Autism Susceptibility 15 57 29 13
Auts15 57 72
Autism, Susceptibility to, Type 15 39
Autism, Susceptibility to, 15 57

Classifications:



External Ids:

OMIM® 57 612100
OMIM Phenotypic Series 57 PS209850
MeSH 44 D001321
MedGen 41 C2677504

Summaries for Autism 15

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Autism 15, is also known as autism susceptibility 15. An important gene associated with Autism 15 is CNTNAP2 (Contactin Associated Protein 2). Affiliated tissues include eye, cortex and amygdala.

UniProtKB/Swiss-Prot : 72 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 (Updated 20-May-2021)

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 29 CNTNAP2
2 Autism Susceptibility 15 29

Anatomical Context for Autism 15

MalaCards organs/tissues related to Autism 15:

40
Eye, Cortex, Amygdala, Brain

Publications for Autism 15

Articles related to Autism 15:

(show all 21)
# Title Authors PMID Year
1
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. 57 6
19456320 2009
2
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. 6 57
18179893 2008
3
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. 6 57
18179895 2008
4
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. 6 57
18179894 2008
5
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. 57
19582487 2010
6
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57
18698615 2008
7
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
8
Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. 57
11741194 2002
9
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
10
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996
11
White matter structure in schizophrenia and autism: Abnormal diffusion across the brain in schizophrenia. 61
31655160 2019
12
Incontinence in children with autism spectrum disorder. 61
26052001 2015
13
Quality of life of unaffected siblings of children with chronic neurological disorders. 61
25640066 2015
14
Increased glutamate concentration in the auditory cortex of persons with autism and first-degree relatives: a (1)H-MRS study. 61
23166003 2013
15
Rapid eye movement sleep percentage in children with autism compared with children with developmental delay and typical development. 61
21041596 2010
16
EEG abnormalities and epilepsy in autistic spectrum disorders: clinical and familial correlates. 61
20042370 2010
17
Altered chemical metabolites in the amygdala-hippocampus region contribute to autistic symptoms of autism spectrum disorders. 61
17631869 2007
18
Assessing the early characteristics of autistic disorder using video analysis. 61
17031450 2007
19
Brief report: pitocin induction in autistic and nonautistic individuals. 61
12757361 2003
20
Elevated daytime melatonin concentrations in autism: A pilot study. 61
29871450 1993
21
Plasma cyclic AMP level in psychiatric diseases of childhood. 61
6248442 1980

Variations for Autism 15

ClinVar genetic disease variations for Autism 15:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNTNAP2 NM_014141.6(CNTNAP2):c.2099-26267A>G SNV risk factor 5491 rs2710102 GRCh37: 7:147574390-147574390
GRCh38: 7:147877298-147877298
2 CNTNAP2 NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) SNV risk factor 5493 rs121908445 GRCh37: 7:147844634-147844634
GRCh38: 7:148147542-148147542
3 CNTNAP2 NM_014141.6(CNTNAP2):c.208+18133A>T SNV risk factor 5492 rs7794745 GRCh37: 7:146489606-146489606
GRCh38: 7:146792514-146792514
4 CNTNAP2 NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) SNV Uncertain significance 166907 rs200866893 GRCh37: 7:145814041-145814041
GRCh38: 7:146116949-146116949
5 CNTNAP2 NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) SNV Uncertain significance 166914 rs727503878 GRCh37: 7:148080860-148080860
GRCh38: 7:148383768-148383768
6 CNTNAP2 NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) SNV Uncertain significance 196459 rs189731792 GRCh37: 7:146536935-146536935
GRCh38: 7:146839843-146839843
7 CNTNAP2 NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) SNV Uncertain significance 205233 rs371839994 GRCh37: 7:146829398-146829398
GRCh38: 7:147132306-147132306
8 CNTNAP2 NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) SNV Uncertain significance 205256 rs148453565 GRCh37: 7:147600681-147600681
GRCh38: 7:147903589-147903589
9 CNTNAP2 NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) SNV Uncertain significance 205319 rs767821521 GRCh37: 7:148106525-148106525
GRCh38: 7:148409433-148409433
10 CNTNAP2 NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) SNV Uncertain significance 128808 rs587780320 GRCh37: 7:146741081-146741081
GRCh38: 7:147043989-147043989
11 CNTNAP2 NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) SNV Uncertain significance 195509 rs367664952 GRCh37: 7:147926845-147926845
GRCh38: 7:148229753-148229753
12 CNTNAP2 NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser) SNV Uncertain significance 205303 rs370517200 GRCh37: 7:146741012-146741012
GRCh38: 7:147043920-147043920
13 CNTNAP2 NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile) SNV Uncertain significance 205305 rs781338949 GRCh37: 7:146741032-146741032
GRCh38: 7:147043940-147043940
14 CNTNAP2 NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) SNV Uncertain significance 205310 rs771028883 GRCh37: 7:146805341-146805341
GRCh38: 7:147108249-147108249
15 CNTNAP2 NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) SNV Uncertain significance 205215 rs377627481 GRCh37: 7:147183065-147183065
GRCh38: 7:147485973-147485973
16 CNTNAP2 NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) SNV Uncertain significance 205248 rs141064983 GRCh37: 7:147259238-147259238
GRCh38: 7:147562146-147562146
17 CNTNAP2 NM_014141.6(CNTNAP2):c.1998C>A (p.Ser666Arg) SNV Uncertain significance 573740 rs759797092 GRCh37: 7:147336298-147336298
GRCh38: 7:147639206-147639206
18 CNTNAP2 NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln) SNV Uncertain significance 582689 rs764412489 GRCh37: 7:147336396-147336396
GRCh38: 7:147639304-147639304
19 CNTNAP2 NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr) SNV Uncertain significance 205261 rs150530671 GRCh37: 7:147600797-147600797
GRCh38: 7:147903705-147903705
20 CNTNAP2 NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln) SNV Uncertain significance 205277 rs138257598 GRCh37: 7:147869515-147869515
GRCh38: 7:148172423-148172423
21 CNTNAP2 NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr) SNV Uncertain significance 420805 rs545175315 GRCh37: 7:147914475-147914475
GRCh38: 7:148217383-148217383
22 CNTNAP2 NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) SNV Uncertain significance 205280 rs374739970 GRCh37: 7:147914524-147914524
GRCh38: 7:148217432-148217432
23 CNTNAP2 NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) SNV Uncertain significance 205282 rs369254596 GRCh37: 7:147914548-147914548
GRCh38: 7:148217456-148217456
24 CNTNAP2 NM_014141.6(CNTNAP2):c.3289C>T (p.Pro1097Ser) SNV Uncertain significance 423369 rs200823464 GRCh37: 7:147926779-147926779
GRCh38: 7:148229687-148229687
25 CNTNAP2 NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) SNV Uncertain significance 194401 rs371691712 GRCh37: 7:147600800-147600800
GRCh38: 7:147903708-147903708
26 CNTNAP2 NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn) SNV Uncertain significance 452326 rs748508785 GRCh37: 7:147869570-147869570
GRCh38: 7:148172478-148172478
27 CNTNAP2 NM_014141.6(CNTNAP2):c.324T>C (p.Asp108=) SNV Uncertain significance 626089 rs756947754 GRCh37: 7:146536918-146536918
GRCh38: 7:146839826-146839826
28 CNTNAP2 NM_014141.6(CNTNAP2):c.755-5C>T SNV Uncertain significance 136809 rs369675346 GRCh37: 7:146818066-146818066
GRCh38: 7:147120974-147120974

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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