MCID: ATS177
MIFTS: 20

Autism X-Linked 5

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Autism X-Linked 5

MalaCards integrated aliases for Autism X-Linked 5:

Name: Autism X-Linked 5 54
Autism, Susceptibility to, X-Linked 5 29 13
Autism, X-Linked 5 71
Autsx5 71

Classifications:



External Ids:

OMIM 54 300847
MedGen 40 C3275438
MeSH 42 D001321

Summaries for Autism X-Linked 5

OMIM : 54
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). The drugs Baclofen and Sertraline have been mentioned in the context of this disorder. Affiliated tissues include brain.

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

Diseases in the Autism X-Linked 4 family:

Autism X-Linked 5 Autism X-Linked 6

Symptoms & Phenotypes for Autism X-Linked 5

Clinical features from OMIM:

300847

Drugs & Therapeutics for Autism X-Linked 5

Drugs for Autism X-Linked 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 3 1134-47-0 2284
2
Sertraline Approved Phase 2 79617-96-2 68617
3
Ethanol Approved Phase 2 64-17-5 702
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5
Pyridoxal Approved, Nutraceutical Phase 2 66-72-8 1050
6
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 2 65-23-6 1054
7 Antidepressive Agents Phase 2
8 Neurotransmitter Agents Phase 2
9 Neurotransmitter Uptake Inhibitors Phase 2
10 Psychotropic Drugs Phase 2
11
Serotonin Phase 2 50-67-9 5202
12 Serotonin Agents Phase 2
13 Serotonin Uptake Inhibitors Phase 2
14 Metadoxine Phase 2
15 Micronutrients Phase 2
16 Trace Elements Phase 2
17 Vitamin B 6 Phase 2
18 Vitamin B Complex Phase 2
19 Vitamins Phase 2
20 Folate Nutraceutical Phase 2
21 Vitamin B9 Nutraceutical Phase 2
22 Fluorides Phase 1
23
Minocycline Approved, Investigational 10118-90-8 5281021
24 Anti-Bacterial Agents
25 Anti-Infective Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3 arbaclofen;arbaclofen;arbaclofen;Placebo
2 Trial of Sertraline to Treat Children With Fragile X Syndrome Completed NCT01474746 Phase 2 Sertraline;Placebo
3 A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome Completed NCT02126995 Phase 2 MG01CI extended-release tablet
4 A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions Completed NCT00870974 Phase 1 [18F]FPEB
5 Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome Completed NCT00858689 Minocycline
6 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Autism X-Linked 5

Genetic Tests for Autism X-Linked 5

Genetic tests related to Autism X-Linked 5:

id Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 5 29

Anatomical Context for Autism X-Linked 5

MalaCards organs/tissues related to Autism X-Linked 5:

39
Brain

Publications for Autism X-Linked 5

Variations for Autism X-Linked 5

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

71
id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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