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 57
Asperger Syndrome X-Linked 2 29 6 40
Asperger Syndrome Susceptibility, X-Linked 2 57 13
Aspgx2 57 75
Asperger Syndrome, X-Linked, Susceptibility to, 2 57
Asperger Syndrome, X-Linked, 2 75

Characteristics:

OMIM:

57
Inheritance:
isolated cases
multifactorial
x-linked

Miscellaneous:
genetic heterogeneity (see )
onset in early childhood


HPO:

32
asperger syndrome, x-linked 2:
Inheritance heterogeneous x-linked inheritance sporadic multifactorial inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 57 300497
MedGen 42 C1845334
MeSH 44 D020817

Summaries for Asperger Syndrome, X-Linked 2

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 stereotypy 32 HP:0000733
2 autism 32 HP:0000717
3 impaired use of nonverbal behaviors 32 HP:0000758
4 restrictive behavior 32 HP:0000723
5 impaired ability to form peer relationships 32 HP:0000728
6 lack of spontaneous play 32 HP:0000721
7 inflexible adherence to routines or rituals 32 HP:0000732

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 29 NLGN4X

Anatomical Context for Asperger Syndrome, X-Linked 2

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

41
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 NLGN4, 1-BP INS, 1186T insertion risk factor
2 NLGN4X NM_020742.3(NLGN4X): c.2259G> C (p.Arg753Ser) single nucleotide variant Uncertain significance rs886042929 GRCh37 Chromosome X, 5811050: 5811050
3 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 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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