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 57
Autism, Susceptibility to, X-Linked 1 57 29 6
Autism Susceptibility, X-Linked 1 57 13
Autsx1 57 75
Autism, Susceptibility to, X-Linked, Type 1 40
Autism, X-Linked 1 75

Characteristics:

OMIM:

57
Inheritance:
isolated cases
multifactorial
x-linked

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


HPO:

32
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 : 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)

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 intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation in 75%
seizures in 15-30%
lack of spontaneous play
eeg abnormalities in 20-50% impaired language development

Laboratory Abnormalities:
increased serum serotonin in 25%

Neurologic Behavioral Psychiatric Manifestations:
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
impaired social interaction
more

Clinical features from OMIM:

300425

Human phenotypes related to Autism X-Linked 1:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 frequent (33%) HP:0001250
3 eeg abnormality 32 very rare (1%) HP:0002353
4 delayed speech and language development 32 frequent (33%) HP:0000750
5 stereotypy 32 HP:0000733
6 autism 32 HP:0000717
7 impaired use of nonverbal behaviors 32 HP:0000758
8 restrictive behavior 32 HP:0000723
9 increased serum serotonin 32 frequent (33%) HP:0003144
10 lack of spontaneous play 32 HP:0000721
11 inflexible adherence to routines or rituals 32 HP:0000732
12 lack of peer relationships 32 HP:0002332

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

Anatomical Context for Autism X-Linked 1

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

41
Eye

Publications for Autism X-Linked 1

Variations for Autism X-Linked 1

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

75
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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