AUTSX5
MCID: ATS177
MIFTS: 16

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 57
Autism, Susceptibility to, X-Linked 5 57 29 13 6
Autsx5 57 72
Autism, Susceptibility to, X-Linked, Type 5 39
Autism, X-Linked 5 72

Classifications:



External Ids:

OMIM® 57 300847
OMIM Phenotypic Series 57 PS209850
MeSH 44 D001321
MedGen 41 C3275438

Summaries for Autism X-Linked 5

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. (300847) (Updated 20-May-2021)

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 : 72 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 (Updated 20-May-2021)

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 29 RPL10

Anatomical Context for Autism X-Linked 5

Publications for Autism X-Linked 5

Articles related to Autism X-Linked 5:

# Title Authors PMID Year
1
Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder. 6 57
21567917 2011
2
Mutations in the ribosomal protein gene RPL10 suggest a novel modulating disease mechanism for autism. 6 57
16940977 2006
3
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. 6
25316788 2014
4
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57
18698615 2008
5
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
6
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
7
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996

Variations for Autism X-Linked 5

ClinVar genetic disease variations for Autism X-Linked 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPL10 NM_001303626.1(RPL10):c.*167C>A SNV risk factor 29990 rs387906727 GRCh37: X:153629166-153629166
GRCh38: X:154400825-154400825
2 RPL10 NM_001303626.1(RPL10):c.*190C>G SNV risk factor 29991 rs782521991 GRCh37: X:153629189-153629189
GRCh38: X:154400848-154400848

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

72
# Symbol AA change Variation ID SNP ID
1 RPL10 p.Leu206Met VAR_027795 rs387906727
2 RPL10 p.His213Gln VAR_027796 rs782521991

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
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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