ASPGX1
MCID: ASP028
MIFTS: 19

Asperger Syndrome, X-Linked 1 (ASPGX1)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Asperger Syndrome, X-Linked 1

MalaCards integrated aliases for Asperger Syndrome, X-Linked 1:

Name: Asperger Syndrome, X-Linked 1 57
Asperger Syndrome X-Linked 1 29 6 39
Asperger Syndrome, X-Linked, Susceptibility to, 1 57 70
Asperger Syndrome Susceptibility, X-Linked 1 57 13
Aspgx1 57 72
Asperger Syndrome, X-Linked, 1 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
isolated cases
multifactorial
x-linked

Miscellaneous:
genetic heterogeneity (see )
onset in early childhood


HPO:

31
asperger syndrome, x-linked 1:
Inheritance x-linked inheritance multifactorial inheritance heterogeneous sporadic
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM® 57 300494
OMIM Phenotypic Series 57 PS608638
MeSH 44 D020817
MedGen 41 C1845341
UMLS 70 C1845341

Summaries for Asperger Syndrome, X-Linked 1

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. (300494) (Updated 05-Apr-2021)

MalaCards based summary : Asperger Syndrome, X-Linked 1, is also known as asperger syndrome x-linked 1. An important gene associated with Asperger Syndrome, X-Linked 1 is NLGN3 (Neuroligin 3). Affiliated tissues include eye, and related phenotypes are stereotypy and autism

UniProtKB/Swiss-Prot : 72 Asperger syndrome, X-linked, 1: 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 1

Symptoms & Phenotypes for Asperger Syndrome, X-Linked 1

Human phenotypes related to Asperger Syndrome, X-Linked 1:

31 (showing 7, show less)
# Description HPO Frequency HPO Source Accession
1 stereotypy 31 HP:0000733
2 autism 31 HP:0000717
3 impaired use of nonverbal behaviors 31 HP:0000758
4 restrictive behavior 31 HP:0000723
5 lack of spontaneous play 31 HP:0000721
6 impaired ability to form peer relationships 31 HP:0000728
7 inflexible adherence to routines or rituals 31 HP:0000732

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Behavioral Psychiatric Manifestations:
impaired social interactions
lack of spontaneous play
impaired ability to form peer relationships
inflexible adherence to routines or rituals
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
more
Neurologic Central Nervous System:
normal, timely language development

Clinical features from OMIM®:

300494 (Updated 05-Apr-2021)

Drugs & Therapeutics for Asperger Syndrome, X-Linked 1

Search Clinical Trials , NIH Clinical Center for Asperger Syndrome, X-Linked 1

Genetic Tests for Asperger Syndrome, X-Linked 1

Genetic tests related to Asperger Syndrome, X-Linked 1:

# Genetic test Affiliating Genes
1 Asperger Syndrome X-Linked 1 29 NLGN3

Anatomical Context for Asperger Syndrome, X-Linked 1

MalaCards organs/tissues related to Asperger Syndrome, X-Linked 1:

40
Eye

Publications for Asperger Syndrome, X-Linked 1

Articles related to Asperger Syndrome, X-Linked 1:

(showing 4, show less)
# Title Authors PMID Year
1
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. 6 57
12669065 2003
2
Disorder-associated mutations lead to functional inactivation of neuroligins. 6
15150161 2004
3
The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing. 6
15152050 2004
4
The Asperger Syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview. 57
11708390 2001

Variations for Asperger Syndrome, X-Linked 1

ClinVar genetic disease variations for Asperger Syndrome, X-Linked 1:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLGN3 NM_181303.2(NLGN3):c.1411C>T (p.Arg471Cys) SNV risk factor 11327 rs121917893 GRCh37: X:70387358-70387358
GRCh38: X:71167508-71167508

UniProtKB/Swiss-Prot genetic disease variations for Asperger Syndrome, X-Linked 1:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 NLGN3 p.Arg451Cys VAR_015668

Expression for Asperger Syndrome, X-Linked 1

Search GEO for disease gene expression data for Asperger Syndrome, X-Linked 1.

Pathways for Asperger Syndrome, X-Linked 1

GO Terms for Asperger Syndrome, X-Linked 1

Sources for Asperger Syndrome, X-Linked 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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