AUTSX2
MCID: ATS366
MIFTS: 38

Autism X-Linked 2 (AUTSX2)

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

Aliases & Classifications for Autism X-Linked 2

MalaCards integrated aliases for Autism X-Linked 2:

Name: Autism X-Linked 2 57
Mental Retardation, X-Linked 57 13 40 73
Autism, Susceptibility to, X-Linked 2 57 29 6
X-Linked Mental Retardation 76 37
Autsx2 57 75
Autism Susceptibility, X-Linked 2 57
Autism, X-Linked 2 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 2:
Onset and clinical course childhood onset
Inheritance heterogeneous x-linked inheritance sporadic multifactorial inheritance


Classifications:



Summaries for Autism X-Linked 2

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. (300495)

MalaCards based summary : Autism X-Linked 2, also known as mental retardation, x-linked, is related to mental retardation, x-linked, with or without seizures, arx-related and mental retardation, x-linked, syndromic 13. An important gene associated with Autism X-Linked 2 is NLGN4X (Neuroligin 4 X-Linked), and among its related pathways/superpathways is Regulation of actin cytoskeleton. Affiliated tissues include eye, and related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 Autism, X-linked 2: 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.

Wikipedia : 76 X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of... more...

Related Diseases for Autism X-Linked 2

Diseases in the Autism X-Linked 2 family:

Autism X-Linked 1 Autism X-Linked 3
Autism X-Linked 4 Autism X-Linked 5
Autism X-Linked 6

Diseases related to Autism X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 152)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with or without seizures, arx-related 12.8
2 mental retardation, x-linked, syndromic 13 12.8
3 mental retardation, x-linked, syndromic, cabezas type 12.8
4 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.7
5 mental retardation, x-linked 12 12.7
6 mental retardation, x-linked, with panhypopituitarism 12.7
7 mental retardation, x-linked, syndromic, nascimento type 12.7
8 mental retardation, x-linked 49 12.7
9 mental retardation, x-linked, syndromic, hedera type 12.7
10 mental retardation, x-linked, syndromic, claes-jensen type 12.7
11 mental retardation, x-linked, syndromic, wu type 12.7
12 mental retardation, x-linked, syndromic, turner type 12.7
13 mental retardation, x-linked, syndromic, raymond type 12.7
14 mental retardation, x-linked 97 12.7
15 mental retardation, x-linked, syndromic 32 12.7
16 mental retardation, x-linked, syndromic 34 12.7
17 mental retardation, x-linked, syndromic, martin-probst type 12.7
18 mental retardation, x-linked 96 12.7
19 mental retardation, x-linked, associated with fragile site fraxe 12.7
20 mental retardation, x-linked 21 12.6
21 mental retardation, x-linked, syndromic, christianson type 12.6
22 mental retardation, x-linked 98 12.6
23 mental retardation, x-linked 99 12.6
24 mental retardation, x-linked 100 12.6
25 mental retardation, x-linked 101 12.6
26 mental retardation, x-linked 92 12.6
27 mental retardation, x-linked 102 12.6
28 mental retardation, x-linked, syndromic 33 12.6
29 mental retardation, x-linked, syndromic, 35 12.6
30 mental retardation, x-linked 99, syndromic, female-restricted 12.6
31 mental retardation, x-linked 103 12.6
32 mental retardation, x-linked 104 12.6
33 mental retardation, x-linked 105 12.6
34 mental retardation, x-linked, syndromic, bain type 12.6
35 mental retardation, x-linked 106 12.6
36 mental retardation, x-linked, syndromic, houge type 12.6
37 mental retardation, x-linked 107 12.6
38 mental retardation, x-linked, syndromic 17 12.4
39 mental retardation, x-linked, syndromic, chudley-schwartz type 12.4
40 mental retardation, x-linked, syndromic, snyder-robinson type 12.4
41 mental retardation, x-linked, syndromic 9 12.4
42 mental retardation, x-linked 23 12.3
43 mental retardation, x-linked, with craniofacial dysmorphism 12.3
44 mental retardation, x-linked 50 12.3
45 mental retardation, x-linked 53 12.3
46 mental retardation, x-linked 73 12.3
47 mental retardation, x-linked 42 12.3
48 syndromic x-linked mental retardation hough type 12.3
49 x-linked mental retardation craniofacial abnormal microcephaly club 12.3
50 lubs x-linked mental retardation syndrome 12.2

Graphical network of the top 20 diseases related to Autism X-Linked 2:



Diseases related to Autism X-Linked 2

Symptoms & Phenotypes for Autism X-Linked 2

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation in 75%
seizures in 15-30%
eeg abnormalities in 20-50%
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
impaired language development
more
Laboratory Abnormalities:
increased serum serotonin in 25%


Clinical features from OMIM:

300495

Human phenotypes related to Autism X-Linked 2:

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 frequent (33%) HP:0002353
4 delayed speech and language development 32 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 2

Search Clinical Trials , NIH Clinical Center for Autism X-Linked 2

Genetic Tests for Autism X-Linked 2

Genetic tests related to Autism X-Linked 2:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 2 29 NLGN4X

Anatomical Context for Autism X-Linked 2

MalaCards organs/tissues related to Autism X-Linked 2:

41
Eye

Publications for Autism X-Linked 2

Articles related to Autism X-Linked 2:

# Title Authors Year
1
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome. ( 28293299 )
2017
2
Correction: Characterization of the Drosophila Group Ortholog to the Amino-Terminus of the Alpha-Thalassemia and Mental Retardation X-Linked (ATRX) Vertebrate Protein. ( 26863318 )
2016
3
Characterization of the Drosophila group ortholog to the amino-terminus of the alpha-thalassemia and mental retardation X-Linked (ATRX) vertebrate protein. ( 25437195 )
2014
4
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. ( 19320021 )
2009
5
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. ( 19320023 )
2009
6
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. ( 19320024 )
2009
7
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ( 16831221 )
2006
8
Alpha thalassaemia-mental retardation, X linked. ( 16722615 )
2006

Variations for Autism X-Linked 2

ClinVar genetic disease variations for Autism X-Linked 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NLGN4X NLGN4, 1-BP INS, 1186T insertion risk factor
2 NLGN4X NLGN4, 2-BP DEL, 1253AG deletion Pathogenic,risk factor
3 NLGN4X nsv513783 deletion Pathogenic,risk factor
4 NLGN4X NM_020742.3(NLGN4X): c.2259G> C (p.Arg753Ser) single nucleotide variant Uncertain significance rs886042929 GRCh37 Chromosome X, 5811050: 5811050
5 NLGN4X NM_020742.3(NLGN4X): c.2259G> C (p.Arg753Ser) single nucleotide variant Uncertain significance rs886042929 GRCh38 Chromosome X, 5893009: 5893009
6 NLGN4X NM_181332.2(NLGN4X): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs756651509 GRCh37 Chromosome X, 6069207: 6069207
7 NLGN4X NM_181332.2(NLGN4X): c.301C> T (p.Arg101Ter) single nucleotide variant Pathogenic rs756651509 GRCh38 Chromosome X, 6151166: 6151166
8 NLGN4X NM_020742.3(NLGN4X): c.2428G> A (p.Gly810Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 5810881: 5810881
9 NLGN4X NM_020742.3(NLGN4X): c.2428G> A (p.Gly810Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 5892840: 5892840

Expression for Autism X-Linked 2

Search GEO for disease gene expression data for Autism X-Linked 2.

Pathways for Autism X-Linked 2

Pathways related to Autism X-Linked 2 according to KEGG:

37
# Name Kegg Source Accession
1 Regulation of actin cytoskeleton hsa04810

GO Terms for Autism X-Linked 2

Sources for Autism X-Linked 2

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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