AUTSX1
MCID: ATS365
MIFTS: 23

Autism X-Linked 1 (AUTSX1)

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

Aliases & Classifications for Autism X-Linked 1

MalaCards integrated aliases for Autism X-Linked 1:

Name: Autism X-Linked 1 57
Autism, Susceptibility to, X-Linked 1 57 29 6
Autism Susceptibility, X-Linked 1 57 29 13
Autsx1 57 72
Autism, Susceptibility to, X-Linked, Type 1 39
Autism, X-Linked 1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
genetic heterogeneity (see )
onset by 3 years of age
male to female ratio 4:1
occurs in 2-5 per 10,000 individuals
associated with tuberous sclerosis
associated with untreated phenylketonuria

Inheritance:
x-linked


HPO:

31
autism x-linked 1:
Inheritance x-linked inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



Summaries for Autism X-Linked 1

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. (300425) (Updated 20-May-2021)

MalaCards based summary : Autism X-Linked 1, is also known as autism, susceptibility to, x-linked 1. An important gene associated with Autism X-Linked 1 is NLGN3 (Neuroligin 3). Affiliated tissues include eye, and related phenotypes are delayed speech and language development and increased serum serotonin

UniProtKB/Swiss-Prot : 72 Autism, X-linked 1: 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 1

Symptoms & Phenotypes for Autism X-Linked 1

Human phenotypes related to Autism X-Linked 1:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 frequent (33%) HP:0000750
2 increased serum serotonin 31 frequent (33%) HP:0003144
3 seizure 31 frequent (33%) HP:0001250
4 eeg abnormality 31 very rare (1%) HP:0002353
5 intellectual disability 31 HP:0001249
6 stereotypy 31 HP:0000733
7 autism 31 HP:0000717
8 impaired use of nonverbal behaviors 31 HP:0000758
9 restrictive behavior 31 HP:0000723
10 lack of peer relationships 31 HP:0002332
11 lack of spontaneous play 31 HP:0000721
12 inflexible adherence to routines or rituals 31 HP:0000732

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
lack of peer relationships
inflexible adherence to routines or rituals
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
restrictive behavior, interests, and activities
stereotyped, repetitive behavior
more
Laboratory Abnormalities:
increased serum serotonin in 25%

Neurologic Central Nervous System:
lack of spontaneous play
mental retardation in 75%
seizures in 15-30%
eeg abnormalities in 20-50% impaired language development

Clinical features from OMIM®:

300425 (Updated 20-May-2021)

Drugs & Therapeutics for Autism X-Linked 1

Search Clinical Trials , NIH Clinical Center for Autism X-Linked 1

Genetic Tests for Autism X-Linked 1

Genetic tests related to Autism X-Linked 1:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 1 29 NLGN3
2 Autism Susceptibility, X-Linked 1 29

Anatomical Context for Autism X-Linked 1

MalaCards organs/tissues related to Autism X-Linked 1:

40
Eye

Publications for Autism X-Linked 1

Articles related to Autism X-Linked 1:

# Title Authors PMID Year
1
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. 6 57
12669065 2003
2
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57
18698615 2008
3
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
4
Disorder-associated mutations lead to functional inactivation of neuroligins. 6
15150161 2004
5
The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing. 6
15152050 2004
6
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. 57
12192642 2002
7
Genomic screen and follow-up analysis for autistic disorder. 57
11840513 2002
8
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
9
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996

Variations for Autism X-Linked 1

ClinVar genetic disease variations for Autism X-Linked 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLGN3 NM_181303.2(NLGN3):c.1411C>T (p.Arg471Cys) SNV risk factor 11327 rs121917893 GRCh37: X:70387358-70387358
GRCh38: X:71167508-71167508
2 NLGN3 NM_181303.2(NLGN3):c.707A>G (p.Asn236Ser) SNV Uncertain significance 1028130 GRCh37: X:70375193-70375193
GRCh38: X:71155343-71155343
3 NLGN3 NM_181303.2(NLGN3):c.913+11C>G SNV Benign 931307 GRCh37: X:70384189-70384189
GRCh38: X:71164339-71164339

UniProtKB/Swiss-Prot genetic disease variations for Autism X-Linked 1:

72
# Symbol AA change Variation ID SNP ID
1 NLGN3 p.Arg451Cys VAR_015668

Expression for Autism X-Linked 1

Search GEO for disease gene expression data for Autism X-Linked 1.

Pathways for Autism X-Linked 1

GO Terms for Autism X-Linked 1

Sources for Autism X-Linked 1

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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