AUTSX5
MCID: ATS177
MIFTS: 15

Autism X-Linked 5 (AUTSX5)

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

Aliases & Classifications for Autism X-Linked 5

MalaCards integrated aliases for Autism X-Linked 5:

Name: Autism X-Linked 5 58
Autism, Susceptibility to, X-Linked 5 58 30 13 6
Autsx5 58 76
Autism, Susceptibility to, X-Linked, Type 5 41
Autism, X-Linked 5 76

Classifications:



External Ids:

OMIM 58 300847
MeSH 45 D001321
MedGen 43 C3275438

Summaries for Autism X-Linked 5

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. (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 : 76 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 30 RPL10

Anatomical Context for Autism X-Linked 5

Publications for Autism X-Linked 5

Articles related to Autism X-Linked 5:

# Title Authors Year
1
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. ( 25316788 )
2014
2
Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder. ( 21567917 )
2011
3
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. ( 16940977 )
2006

Variations for Autism X-Linked 5

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

76
# 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.616C> A (p.Leu206Met) single nucleotide variant risk factor rs387906727 GRCh38 Chromosome X, 154400825: 154400825
3 RPL10 NM_006013.4(RPL10): c.639C> G (p.His213Gln) single nucleotide variant Uncertain significance rs782521991 GRCh37 Chromosome X, 153629189: 153629189
4 RPL10 NM_006013.4(RPL10): c.639C> G (p.His213Gln) single nucleotide variant Uncertain significance rs782521991 GRCh38 Chromosome X, 154400848: 154400848

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
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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