MCID: ATS046
MIFTS: 13

Autism Susceptibility 17

Categories: Genetic diseases

Aliases & Classifications for Autism Susceptibility 17

MalaCards integrated aliases for Autism Susceptibility 17:

Name: Autism Susceptibility 17 54 13
Autism 17 71 29
Auts17 71

Classifications:



External Ids:

OMIM 54 613436
MedGen 40 C3150693
MeSH 42 D001321

Summaries for Autism Susceptibility 17

OMIM : 54
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 Susceptibility 17, is also known as autism 17. An important gene associated with Autism Susceptibility 17 is SHANK2 (SH3 And Multiple Ankyrin Repeat Domains 2).

UniProtKB/Swiss-Prot : 71 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 Susceptibility 17

Symptoms & Phenotypes for Autism Susceptibility 17

Clinical features from OMIM:

613436

Drugs & Therapeutics for Autism Susceptibility 17

Search Clinical Trials , NIH Clinical Center for Autism Susceptibility 17

Genetic Tests for Autism Susceptibility 17

Genetic tests related to Autism Susceptibility 17:

id Genetic test Affiliating Genes
1 Autism 17 29

Anatomical Context for Autism Susceptibility 17

Publications for Autism Susceptibility 17

Variations for Autism Susceptibility 17

ClinVar genetic disease variations for Autism Susceptibility 17:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SHANK2 SHANK2, 120-KB DEL deletion risk factor
2 SHANK2 SHANK2, 69-KB DEL deletion risk factor
3 SHANK2 SHANK2, ARG462TER single nucleotide variant risk factor
4 SHANK2 NM_012309.4(SHANK2): c.1896_1897insA (p.Asp633Argfs) insertion Pathogenic rs869312876 GRCh37 Chromosome 11, 70507741: 70507741

Expression for Autism Susceptibility 17

Search GEO for disease gene expression data for Autism Susceptibility 17.

Pathways for Autism Susceptibility 17

GO Terms for Autism Susceptibility 17

Sources for Autism Susceptibility 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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