AUTS16
MCID: ATS377
MIFTS: 14

Autism 16 (AUTS16)

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

Aliases & Classifications for Autism 16

MalaCards integrated aliases for Autism 16:

Name: Autism 16 58 76 30 6
Autism with or Without Seizures 58 76
Autism Susceptibility 16 58 13
Auts16 58 76
Autism, Susceptibility to, Type 16 41
Autism, Susceptibility to, 16 58

Classifications:



External Ids:

OMIM 58 613410
MeSH 45 D001321
MedGen 43 C3150677

Summaries for Autism 16

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 heterogeneity of autism, see 209850. (613410)

MalaCards based summary : Autism 16, is also known as autism with or without seizures. An important gene associated with Autism 16 is SLC9A9 (Solute Carrier Family 9 Member A9).

UniProtKB/Swiss-Prot : 76 Autism 16: 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. AUTS16 can be associated with epilepsy.

Related Diseases for Autism 16

Symptoms & Phenotypes for Autism 16

Clinical features from OMIM:

613410

Drugs & Therapeutics for Autism 16

Search Clinical Trials , NIH Clinical Center for Autism 16

Genetic Tests for Autism 16

Genetic tests related to Autism 16:

# Genetic test Affiliating Genes
1 Autism 16 30 SLC9A9

Anatomical Context for Autism 16

Publications for Autism 16

Articles related to Autism 16:

# Title Authors Year
1
Identifying autism loci and genes by tracing recent shared ancestry. ( 18621663 )
2008

Variations for Autism 16

ClinVar genetic disease variations for Autism 16:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A9 NM_173653.3(SLC9A9): c.1267C> T (p.Arg423Ter) single nucleotide variant risk factor rs121912597 GRCh37 Chromosome 3, 143212543: 143212543
2 SLC9A9 NM_173653.3(SLC9A9): c.1267C> T (p.Arg423Ter) single nucleotide variant risk factor rs121912597 GRCh38 Chromosome 3, 143493701: 143493701

Expression for Autism 16

Search GEO for disease gene expression data for Autism 16.

Pathways for Autism 16

GO Terms for Autism 16

Sources for Autism 16

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
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52 NDF-RT
55 NINDS
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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
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