ASPGX2
MCID: ASP029
MIFTS: 17

Asperger Syndrome, X-Linked 2 (ASPGX2)

Categories: Genetic diseases

Aliases & Classifications for Asperger Syndrome, X-Linked 2

MalaCards integrated aliases for Asperger Syndrome, X-Linked 2:

Name: Asperger Syndrome, X-Linked 2 58
Asperger Syndrome X-Linked 2 30 6 41
Asperger Syndrome Susceptibility, X-Linked 2 58 13
Aspgx2 58 76
Asperger Syndrome, X-Linked, Susceptibility to, 2 58
Asperger Syndrome, X-Linked, 2 76

Characteristics:

OMIM:

58
Miscellaneous:
genetic heterogeneity (see )
onset in early childhood

Inheritance:
x-linked


HPO:

33
asperger syndrome, x-linked 2:
Inheritance heterogeneous x-linked inheritance sporadic multifactorial inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 58 300497
MeSH 45 D020817
MedGen 43 C1845334

Summaries for Asperger Syndrome, X-Linked 2

OMIM : 58 Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder. For a discussion of genetic heterogeneity of Asperger syndrome, see 608638. (300497)

MalaCards based summary : Asperger Syndrome, X-Linked 2, is also known as asperger syndrome x-linked 2. An important gene associated with Asperger Syndrome, X-Linked 2 is NLGN4X (Neuroligin 4 X-Linked). Affiliated tissues include eye, and related phenotypes are stereotypy and autism

UniProtKB/Swiss-Prot : 76 Asperger syndrome, X-linked, 2: A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases.

Related Diseases for Asperger Syndrome, X-Linked 2

Diseases in the Asperger Syndrome, X-Linked 1 family:

Asperger Syndrome, X-Linked 2

Symptoms & Phenotypes for Asperger Syndrome, X-Linked 2

Human phenotypes related to Asperger Syndrome, X-Linked 2:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 stereotypy 33 HP:0000733
2 autism 33 HP:0000717
3 impaired use of nonverbal behaviors 33 HP:0000758
4 restrictive behavior 33 HP:0000723
5 impaired ability to form peer relationships 33 HP:0000728
6 lack of spontaneous play 33 HP:0000721
7 inflexible adherence to routines or rituals 33 HP:0000732

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
impaired social interactions
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
impaired ability to form peer relationships
lack of spontaneous play
restrictive behavior, interests, and activities
more
Neurologic Central Nervous System:
normal, timely language development

Clinical features from OMIM:

300497

Drugs & Therapeutics for Asperger Syndrome, X-Linked 2

Search Clinical Trials , NIH Clinical Center for Asperger Syndrome, X-Linked 2

Genetic Tests for Asperger Syndrome, X-Linked 2

Genetic tests related to Asperger Syndrome, X-Linked 2:

# Genetic test Affiliating Genes
1 Asperger Syndrome X-Linked 2 30 NLGN4X

Anatomical Context for Asperger Syndrome, X-Linked 2

MalaCards organs/tissues related to Asperger Syndrome, X-Linked 2:

42
Eye

Publications for Asperger Syndrome, X-Linked 2

Variations for Asperger Syndrome, X-Linked 2

ClinVar genetic disease variations for Asperger Syndrome, X-Linked 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NLGN4X NM_181332.2(NLGN4X): c.1185dup (p.Asp396Terfs) duplication risk factor GRCh38 Chromosome X, 5903493: 5903493
2 NLGN4X NM_181332.2(NLGN4X): c.1185dup (p.Asp396Terfs) duplication risk factor GRCh37 Chromosome X, 5821534: 5821534
3 NLGN4X NM_020742.3(NLGN4X): c.2259G> C (p.Arg753Ser) single nucleotide variant Uncertain significance rs886042929 GRCh37 Chromosome X, 5811050: 5811050
4 NLGN4X NM_020742.3(NLGN4X): c.2259G> C (p.Arg753Ser) single nucleotide variant Uncertain significance rs886042929 GRCh38 Chromosome X, 5893009: 5893009

Expression for Asperger Syndrome, X-Linked 2

Search GEO for disease gene expression data for Asperger Syndrome, X-Linked 2.

Pathways for Asperger Syndrome, X-Linked 2

GO Terms for Asperger Syndrome, X-Linked 2

Sources for Asperger Syndrome, X-Linked 2

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
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45 MeSH
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50 NCI
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55 NINDS
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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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