AUTSX1
MCID: ATS365
MIFTS: 20

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 58
Autism, Susceptibility to, X-Linked 1 58 30 6
Autism Susceptibility, X-Linked 1 58 13
Autsx1 58 76
Autism, Susceptibility to, X-Linked, Type 1 41
Autism, X-Linked 1 76

Characteristics:

OMIM:

58
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:

33
autism x-linked 1:
Onset and clinical course childhood onset
Inheritance heterogeneous x-linked inheritance sporadic multifactorial inheritance


Classifications:



Summaries for Autism X-Linked 1

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. (300425)

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 seizures and delayed speech and language development

UniProtKB/Swiss-Prot : 76 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:

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

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
lack of peer relationships
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
inflexible adherence to routines or rituals
more
Laboratory Abnormalities:
increased serum serotonin in 25%

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

Clinical features from OMIM:

300425

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 30 NLGN3

Anatomical Context for Autism X-Linked 1

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

42
Eye

Publications for Autism X-Linked 1

Variations for Autism X-Linked 1

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

76
# Symbol AA change Variation ID SNP ID
1 NLGN3 p.Arg451Cys VAR_015668

ClinVar genetic disease variations for Autism X-Linked 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NLGN3 NM_018977.3(NLGN3): c.1351C> T (p.Arg451Cys) single nucleotide variant risk factor rs121917893 GRCh37 Chromosome X, 70387358: 70387358
2 NLGN3 NM_018977.3(NLGN3): c.1351C> T (p.Arg451Cys) single nucleotide variant risk factor rs121917893 GRCh38 Chromosome X, 71167508: 71167508

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
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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