AUTS9
MCID: ATS171
MIFTS: 17

Autism 9 (AUTS9)

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

Aliases & Classifications for Autism 9

MalaCards integrated aliases for Autism 9:

Name: Autism 9 57 6
Autism, Susceptibility to, 9 57
Auts9 57

Classifications:



External Ids:

OMIM® 57 611015
OMIM Phenotypic Series 57 PS209850

Summaries for Autism 9

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 genetic heterogeneity of autism, see 209850. (611015) (Updated 20-May-2021)

MalaCards based summary : Autism 9, also known as autism, susceptibility to, 9, is related to renal cell carcinoma, papillary, 1. An important gene associated with Autism 9 is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase). Affiliated tissues include eye and brain.

Related Diseases for Autism 9

Diseases in the Autism family:

Autism 8 Autism 3
Autism 6 Autism 7
Autism 11 Autism 12
Autism 13 Autism 9
Autism 10 Autism 15
Autism 16 Autism 17
Autism 18 Autism 19
Autism 20 Autism Spectrum Disorder
Rare Disease with Autism

Diseases related to Autism 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal cell carcinoma, papillary, 1 9.5 MET COMETT

Symptoms & Phenotypes for Autism 9

Clinical features from OMIM®:

611015 (Updated 20-May-2021)

Drugs & Therapeutics for Autism 9

Search Clinical Trials , NIH Clinical Center for Autism 9

Genetic Tests for Autism 9

Anatomical Context for Autism 9

MalaCards organs/tissues related to Autism 9:

40
Eye, Brain

Publications for Autism 9

Articles related to Autism 9:

(show all 25)
# Title Authors PMID Year
1
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57
18698615 2008
2
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
3
A genetic variant that disrupts MET transcription is associated with autism. 57
17053076 2006
4
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders. 57
16189507 2006
5
Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. 57
15689451 2005
6
FOXP2 is not a major susceptibility gene for autism or specific language impairment. 57
11894222 2002
7
Evidence supporting WNT2 as an autism susceptibility gene. 57
11449391 2001
8
Full-genome scans with autistic disorder: a review. 57
11529268 2001
9
Chromosome 7q: where autism meets language disorder? 57
10889044 2000
10
Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. 57
10889047 2000
11
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
12
A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium. 57
9546821 1998
13
Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1. 57
9298901 1997
14
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996
15
Implementing standard screening for autism spectrum disorder in CHD. 61
32580791 2020
16
Academic Developmental-Behavioral Pediatric Faculty at Developmental-Behavioral Pediatric Research Network Sites: Changing Composition and Interests. 61
28914731 2017
17
A common molecular signature in ASD gene expression: following Root 66 to autism. 61
26731442 2016
18
Gastrointestinal microbiota in children with autism in Slovakia. 61
25446201 2015
19
An evaluation of a progressive high-probability instructional sequence combined with low-probability demand fading in the treatment of food selectivity. 61
23060666 2012
20
Cortical gyrification in autistic and Asperger disorders: a preliminary magnetic resonance imaging study. 61
20413799 2010
21
Pervasive developmental disorders and criminal behaviour: a case control study. 61
17615427 2008
22
Aberrant amino acid transport in fibroblasts from children with autism. 61
17412511 2007
23
[Efficacy of secretin for the treatment of autism]. 61
15272612 2004
24
Educational and social competencies at 8 years in children with threshold retinopathy of prematurity in the CRYO-ROP multicenter study. 61
15060229 2004
25
Social/sexual awareness of persons with autism: a parental perspective. 61
8494490 1993

Variations for Autism 9

ClinVar genetic disease variations for Autism 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MET , COMETT NM_000245.4(MET):c.-207= SNV Uncertain significance 13891 rs1858830 GRCh37: 7:116312439-116312439
GRCh38: 7:116672385-116672385

Expression for Autism 9

Search GEO for disease gene expression data for Autism 9.

Pathways for Autism 9

GO Terms for Autism 9

Sources for Autism 9

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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