AUTS9
MCID: ATS171
MIFTS: 11

Autism 9 (AUTS9)

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

Aliases & Classifications for Autism 9

MalaCards integrated aliases for Autism 9:

Name: Autism 9 58 30 6
Autism, Susceptibility to, 9 58
Auts9 58

Classifications:



External Ids:

OMIM 58 611015

Summaries for Autism 9

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 genetic heterogeneity of autism, see 209850. (611015)

MalaCards based summary : Autism 9, is also known as autism, susceptibility to, 9. An important gene associated with Autism 9 is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase).

Related Diseases for Autism 9

Symptoms & Phenotypes for Autism 9

Clinical features from OMIM:

611015

Drugs & Therapeutics for Autism 9

Search Clinical Trials , NIH Clinical Center for Autism 9

Genetic Tests for Autism 9

Genetic tests related to Autism 9:

# Genetic test Affiliating Genes
1 Autism 9 30

Anatomical Context for Autism 9

Publications for Autism 9

Variations for Autism 9

ClinVar genetic disease variations for Autism 9:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MET NM_001127500.2(MET): c.-207C= single nucleotide variant Uncertain significance rs1858830 GRCh37 Chromosome 7, 116312439: 116312439
2 MET NM_001127500.2(MET): c.-207C= single nucleotide variant Uncertain significance rs1858830 GRCh38 Chromosome 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
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
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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