AUTS16
MCID: ATS377
MIFTS: 20

Autism 16 (AUTS16)

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

Aliases & Classifications for Autism 16

MalaCards integrated aliases for Autism 16:

Name: Autism 16 57 72 29 6
Autism Susceptibility 16 57 29 13
Autism with or Without Seizures 57 72
Auts16 57 72
Autism, Susceptibility to, Type 16 39
Autism, Susceptibility to, 16 57

Classifications:



External Ids:

OMIM® 57 613410
OMIM Phenotypic Series 57 PS209850
MeSH 44 D001321
MedGen 41 C3150677

Summaries for Autism 16

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 heterogeneity of autism, see 209850. (613410) (Updated 05-Apr-2021)

MalaCards based summary : Autism 16, is also known as autism susceptibility 16. An important gene associated with Autism 16 is SLC9A9 (Solute Carrier Family 9 Member A9). Affiliated tissues include cortex and cerebellum.

UniProtKB/Swiss-Prot : 72 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 (Updated 05-Apr-2021)

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 29 SLC9A9
2 Autism Susceptibility 16 29

Anatomical Context for Autism 16

MalaCards organs/tissues related to Autism 16:

40
Cortex, Cerebellum

Publications for Autism 16

Articles related to Autism 16:

(show all 19)
# Title Authors PMID Year
1
Identifying autism loci and genes by tracing recent shared ancestry. 57 6
18621663 2008
2
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57
18698615 2008
3
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
4
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
5
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996
6
The Pediatric Neurology 2020 Research Workforce Survey: Optimism in a Time of Challenge. 61
33486423 2021
7
Content Words in Child-Directed Speech of Mothers Toward Children With Autism Spectrum Disorder. 61
32463713 2020
8
Kynurenine Pathway in Autism Spectrum Disorders in Children. 61
29694960 2017
9
Cytokine Profile in Autism Spectrum Disorders in Children. 61
27730473 2017
10
Chronic Neuromotor Disability After Complex Cardiac Surgery in Early Life. 61
26391946 2015
11
The clinician's guide to autism. 61
24488830 2014
12
Cerebellum, language, and cognition in autism and specific language impairment. 61
19924522 2010
13
Disparities in diagnosis and access to health services for children with autism: data from the National Survey of Children's Health. 61
18349708 2008
14
Deferred and immediate imitation in regressive and early onset autism. 61
18221343 2008
15
Language-association cortex asymmetry in autism and specific language impairment. 61
15478219 2004
16
Advanced theory of mind in high-functioning adults with autism. 61
11439751 2001
17
From categorization to classification: a comparison among individuals with autism, mental retardation, and normal development. 61
8530762 1995
18
Failure of naltrexone hydrochloride to reduce self-injurious and autistic behavior in mentally retarded adults. Double-blind placebo-controlled studies. 61
7654128 1995
19
Infantile autism and the fragile X. A Swedish multicenter study. 61
3953658 1986

Variations for Autism 16

ClinVar genetic disease variations for Autism 16:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC9A9 NM_173653.4(SLC9A9):c.1267C>T (p.Arg423Ter) SNV risk factor 2363 rs121912597 GRCh37: 3:143212543-143212543
GRCh38: 3:143493701-143493701
2 SLC9A9 NM_173653.4(SLC9A9):c.1203+1G>A SNV Uncertain significance 996870 GRCh37: 3:143214176-143214176
GRCh38: 3:143495334-143495334

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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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