AUTS17
MCID: ATS378
MIFTS: 22

Autism 17 (AUTS17)

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

Aliases & Classifications for Autism 17

MalaCards integrated aliases for Autism 17:

Name: Autism 17 56 73 29 6
Autism Susceptibility 17 56 29 13
Auts17 56 73
Autism, Susceptibility to, Type 17 39
Autism, Susceptibility to, 17 56

Classifications:



External Ids:

OMIM 56 613436
OMIM Phenotypic Series 56 PS209850
MeSH 43 D001321
MedGen 41 C3150693

Summaries for Autism 17

OMIM : 56 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. (613436)

MalaCards based summary : Autism 17, is also known as autism susceptibility 17. An important gene associated with Autism 17 is SHANK2 (SH3 And Multiple Ankyrin Repeat Domains 2). Affiliated tissues include brain, breast and testes.

UniProtKB/Swiss-Prot : 73 Autism 17: 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 17

Symptoms & Phenotypes for Autism 17

Clinical features from OMIM:

613436

Drugs & Therapeutics for Autism 17

Search Clinical Trials , NIH Clinical Center for Autism 17

Genetic Tests for Autism 17

Genetic tests related to Autism 17:

# Genetic test Affiliating Genes
1 Autism 17 29 SHANK2
2 Autism Susceptibility 17 29

Anatomical Context for Autism 17

MalaCards organs/tissues related to Autism 17:

40
Brain, Breast, Testes

Publications for Autism 17

Articles related to Autism 17:

(show all 17)
# Title Authors PMID Year
1
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. 6 56
20473310 2010
2
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 6
25190698 2014
3
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
4
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. 6
20466091 2010
5
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 56
18698615 2008
6
Evidence for multiple loci from a genome scan of autism kindreds. 56
16880825 2006
7
A genomic screen of autism: evidence for a multilocus etiology. 56
10417292 1999
8
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 56
8655659 1996
9
Knowledge, attitudes, beliefs and practices of Occupational Physicians towards seasonal influenza vaccination: a cross-sectional study from North-Eastern Italy. 61
28900354 2017
10
Autism and Overcoming Job Barriers: Comparing Job-Related Barriers and Possible Solutions in and outside of Autism-Specific Employment. 61
26766183 2016
11
Measuring and supporting language function for children with autism: evidence from a randomized control trial of a social-interaction-based therapy. 61
25234481 2015
12
Clinician uptake of obesity-related drug information: a qualitative assessment using continuing medical education activities. 61
23575242 2013
13
Abstractness and continuity in the syntactic development of young children with autism. 61
22012625 2011
14
Electrophysiological abnormalities of spatial attention in adults with autism during the gap overlap task. 61
17532260 2007
15
Short-latency somatosensory evoked potentials in infantile autism: evidence of hyperactivity in the right primary somatosensory area. 61
17209970 2007
16
Neurodevelopmental disorders after thimerosal-containing vaccines: a brief communication. 61
12773696 2003
17
Evaluation of attention problems in children with autism and children with a specific language disorder. 61
11315537 2001

Variations for Autism 17

ClinVar genetic disease variations for Autism 17:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SHANK2 NM_012309.4(SHANK2):c.1896dup (p.Asp633fs)duplication Pathogenic 224127 rs1555013332 11:70507740-70507741 11:70661635-70661636
2 SHANK2 NM_012309.4(SHANK2):c.4906C>T (p.Arg1636Ter)SNV Likely pathogenic 620503 rs1565526121 11:70331492-70331492 11:70485387-70485387
3 SHANK2 SHANK2, 120-KB DELdeletion risk factor 6516
4 SHANK2 SHANK2, 69-KB DELdeletion risk factor 6517
5 SHANK2 SHANK2, ARG462TERSNV risk factor 6518
6 SHANK2 NM_133266.5(SHANK2):c.574A>C (p.Lys192Gln)SNV Conflicting interpretations of pathogenicity 436710 rs55968949 11:70338541-70338541 11:70492436-70492436
7 SHANK2 NM_012309.4(SHANK2):c.2453G>A (p.Arg818His)SNV Conflicting interpretations of pathogenicity 212174 rs117843717 11:70336479-70336479 11:70490374-70490374
8 SHANK2 NM_012309.4(SHANK2):c.2333C>G (p.Ala778Gly)SNV Uncertain significance 560278 rs1555156140 11:70338546-70338546 11:70492441-70492441
9 SHANK2 NM_012309.4(SHANK2):c.3704A>G (p.Lys1235Arg)SNV Uncertain significance 560229 rs1350344796 11:70332694-70332694 11:70486589-70486589
10 SHANK2 NM_012309.4(SHANK2):c.3454dup (p.Glu1152fs)duplication Uncertain significance 620034 rs1565529155 11:70332943-70332944 11:70486838-70486839
11 SHANK2 NM_133266.5(SHANK2):c.3058G>A (p.Val1020Ile)SNV Likely benign 436712 rs543988574 11:70331576-70331576 11:70485471-70485471
12 SHANK2 NM_012309.4(SHANK2):c.451G>T (p.Asp151Tyr)SNV Likely benign 377390 rs967203648 11:70824371-70824371 11:71113325-71113325
13 SHANK2 NM_012309.4(SHANK2):c.4991T>C (p.Ile1664Thr)SNV Benign/Likely benign 212168 rs150857128 11:70319533-70319533 11:70473428-70473428

Expression for Autism 17

Search GEO for disease gene expression data for Autism 17.

Pathways for Autism 17

GO Terms for Autism 17

Sources for Autism 17

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