AUTS19
MCID: ATS170
MIFTS: 17

Autism 19 (AUTS19)

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

Aliases & Classifications for Autism 19

MalaCards integrated aliases for Autism 19:

Name: Autism 19 57 72
Autism, Susceptibility to, 19 57 29 13 6
Auts19 57 72
Autism, Susceptibility to, Type 19 39

Classifications:



External Ids:

OMIM® 57 615091
OMIM Phenotypic Series 57 PS209850
MeSH 44 D001321

Summaries for Autism 19

UniProtKB/Swiss-Prot : 72 Autism 19: 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.

MalaCards based summary : Autism 19, is also known as autism, susceptibility to, 19. An important gene associated with Autism 19 is EIF4E (Eukaryotic Translation Initiation Factor 4E). Affiliated tissues include eye.

More information from OMIM: 615091 PS209850

Related Diseases for Autism 19

Symptoms & Phenotypes for Autism 19

Clinical features from OMIM®:

615091 (Updated 20-May-2021)

Drugs & Therapeutics for Autism 19

Search Clinical Trials , NIH Clinical Center for Autism 19

Genetic Tests for Autism 19

Genetic tests related to Autism 19:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, 19 29 EIF4E

Anatomical Context for Autism 19

MalaCards organs/tissues related to Autism 19:

40
Eye

Publications for Autism 19

Articles related to Autism 19:

(show all 13)
# Title Authors PMID Year
1
Deregulation of EIF4E: a novel mechanism for autism. 57 6
19556253 2009
2
Exaggerated translation causes synaptic and behavioural aberrations associated with autism. 57
23263185 2013
3
Autism-related deficits via dysregulated eIF4E-dependent translational control. 57
23172145 2013
4
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
5
A genomewide screen of 345 families for autism-susceptibility loci. 57
13680528 2003
6
A Comparative Analysis of Chewing Function and Feeding Behaviors in Children with Autism. 61
33427955 2021
7
The role of PCDH19 in refractory status epilepticus. 61
31678000 2019
8
Should I trust you? Autistic traits predict reduced appearance-based trust decisions. 61
30421801 2019
9
Compensatory strategies below the behavioural surface in autism: a qualitative study. 61
31350208 2019
10
Missed opportunities: unidentified genetic risk factors in prenatal care. 61
28384392 2018
11
Exome Sequencing of Familial Bipolar Disorder. 61
27120077 2016
12
Social skills and problem behaviours in school aged children with high-functioning autism and Asperger's Disorder. 61
16865549 2006
13
A comparative study of the spontaneous social interactions of children with high-functioning autism and children with Asperger's disorder. 61
16613868 2006

Variations for Autism 19

ClinVar genetic disease variations for Autism 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EIF4E EIF4E, 1-BP INS, -25C Insertion risk factor 40089 GRCh37:
GRCh38:

Expression for Autism 19

Search GEO for disease gene expression data for Autism 19.

Pathways for Autism 19

GO Terms for Autism 19

Sources for Autism 19

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