AUTS17
MCID: ATS378
MIFTS: 13

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 58 76 30 6
Autism Susceptibility 17 58 13
Auts17 58 76
Autism, Susceptibility to, Type 17 41
Autism, Susceptibility to, 17 58

Classifications:



External Ids:

OMIM 58 613436
MeSH 45 D001321
MedGen 43 C3150693

Summaries for Autism 17

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. (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).

UniProtKB/Swiss-Prot : 76 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 30 SHANK2

Anatomical Context for Autism 17

Publications for Autism 17

Articles related to Autism 17:

# Title Authors Year
1
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. ( 20473310 )
2010

Variations for Autism 17

ClinVar genetic disease variations for Autism 17:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHANK2 SHANK2, 69-KB DEL deletion risk factor
2 SHANK2 SHANK2, ARG462TER single nucleotide variant risk factor
3 SHANK2 SHANK2, 120-KB DEL deletion risk factor
4 SHANK2 NM_133266.4(SHANK2): c.3227T> C (p.Ile1076Thr) single nucleotide variant Likely benign rs150857128 GRCh38 Chromosome 11, 70473428: 70473428
5 SHANK2 NM_133266.4(SHANK2): c.3227T> C (p.Ile1076Thr) single nucleotide variant Likely benign rs150857128 GRCh37 Chromosome 11, 70319533: 70319533
6 SHANK2 NM_133266.4(SHANK2): c.689G> A (p.Arg230His) single nucleotide variant Conflicting interpretations of pathogenicity rs117843717 GRCh38 Chromosome 11, 70490374: 70490374
7 SHANK2 NM_133266.4(SHANK2): c.689G> A (p.Arg230His) single nucleotide variant Conflicting interpretations of pathogenicity rs117843717 GRCh37 Chromosome 11, 70336479: 70336479
8 SHANK2 NM_012309.4(SHANK2): c.1896_1897insA (p.Asp633Argfs) insertion Pathogenic rs1555013332 GRCh37 Chromosome 11, 70507741: 70507741
9 SHANK2 NM_012309.4(SHANK2): c.1896_1897insA (p.Asp633Argfs) insertion Pathogenic rs1555013332 GRCh38 Chromosome 11, 70661636: 70661636
10 SHANK2 NM_012309.4(SHANK2): c.451G> T (p.Asp151Tyr) single nucleotide variant Likely benign rs967203648 GRCh38 Chromosome 11, 71113325: 71113325
11 SHANK2 NM_012309.4(SHANK2): c.451G> T (p.Asp151Tyr) single nucleotide variant Likely benign rs967203648 GRCh37 Chromosome 11, 70824371: 70824371
12 SHANK2 NM_133266.4(SHANK2): c.3058G> A (p.Val1020Ile) single nucleotide variant Likely benign rs543988574 GRCh38 Chromosome 11, 70485471: 70485471
13 SHANK2 NM_133266.4(SHANK2): c.3058G> A (p.Val1020Ile) single nucleotide variant Likely benign rs543988574 GRCh37 Chromosome 11, 70331576: 70331576
14 SHANK2 NM_133266.4(SHANK2): c.574A> C (p.Lys192Gln) single nucleotide variant Uncertain significance rs55968949 GRCh38 Chromosome 11, 70492436: 70492436
15 SHANK2 NM_133266.4(SHANK2): c.574A> C (p.Lys192Gln) single nucleotide variant Uncertain significance rs55968949 GRCh37 Chromosome 11, 70338541: 70338541
16 SHANK2 NM_012309.4(SHANK2): c.2333C> G (p.Ala778Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 70492441: 70492441
17 SHANK2 NM_012309.4(SHANK2): c.2333C> G (p.Ala778Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 70338546: 70338546
18 SHANK2 NM_012309.4(SHANK2): c.912+2792A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 71089630: 71089630
19 SHANK2 NM_012309.4(SHANK2): c.912+2792A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 70332694: 70332694
20 SHANK2 NM_012309.4(SHANK2): c.3452dup (p.Glu1152Glyfs) duplication Uncertain significance GRCh38 Chromosome 11, 70486841: 70486841
21 SHANK2 NM_012309.4(SHANK2): c.3452dup (p.Glu1152Glyfs) duplication Uncertain significance GRCh37 Chromosome 11, 70332944: 70332944

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....