MCID: ATS177
MIFTS: 13

Autism X-Linked 5

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

Aliases & Classifications for Autism X-Linked 5

MalaCards integrated aliases for Autism X-Linked 5:

Name: Autism X-Linked 5 53
Autism, Susceptibility to, X-Linked 5 53 28 13
Autsx5 53 71
Autism, X-Linked 5 71

Classifications:



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OMIM 53 300847
MedGen 39 C3275438
MeSH 41 D001321

Summaries for Autism X-Linked 5

OMIM : 53 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. (300847)

MalaCards based summary : Autism X-Linked 5, is also known as autism, susceptibility to, x-linked 5. An important gene associated with Autism X-Linked 5 is RPL10 (Ribosomal Protein L10).

UniProtKB/Swiss-Prot : 71 Autism, X-linked 5: 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.

Related Diseases for Autism X-Linked 5

Symptoms & Phenotypes for Autism X-Linked 5

Clinical features from OMIM:

300847

Drugs & Therapeutics for Autism X-Linked 5

Search Clinical Trials , NIH Clinical Center for Autism X-Linked 5

Genetic Tests for Autism X-Linked 5

Genetic tests related to Autism X-Linked 5:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 5 28 RPL10

Anatomical Context for Autism X-Linked 5

Publications for Autism X-Linked 5

Variations for Autism X-Linked 5

UniProtKB/Swiss-Prot genetic disease variations for Autism X-Linked 5:

71
# Symbol AA change Variation ID SNP ID
1 RPL10 p.Leu206Met VAR_027795
2 RPL10 p.His213Gln VAR_027796

ClinVar genetic disease variations for Autism X-Linked 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RPL10 NM_006013.4(RPL10): c.616C> A (p.Leu206Met) single nucleotide variant risk factor rs387906727 GRCh37 Chromosome X, 153629166: 153629166
2 RPL10 NM_006013.4(RPL10): c.639C> G (p.His213Gln) single nucleotide variant risk factor rs782521991 GRCh37 Chromosome X, 153629189: 153629189

Expression for Autism X-Linked 5

Search GEO for disease gene expression data for Autism X-Linked 5.

Pathways for Autism X-Linked 5

GO Terms for Autism X-Linked 5

Sources for Autism X-Linked 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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