ASPGX2
MCID: ASP029
MIFTS: 19
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Asperger Syndrome, X-Linked 2 (ASPGX2)
Categories:
Eye diseases, Genetic diseases
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MalaCards integrated aliases for Asperger Syndrome, X-Linked 2:
Name: Asperger Syndrome, X-Linked 2
57
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
genetic heterogeneity (see ) onset in early childhood
Inheritance:
x-linked HPO:31
asperger syndrome, x-linked 2:
Inheritance x-linked inheritance heterogeneous sporadic Onset and clinical course juvenile onset Classifications: |
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) (Updated 05-Mar-2021)
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 : 73 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. |
Human phenotypes related to Asperger Syndrome, X-Linked 2:31 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:300497 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Asperger Syndrome, X-Linked 2:40
Eye
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Articles related to Asperger Syndrome, X-Linked 2:
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ClinVar genetic disease variations for Asperger Syndrome, X-Linked 2:6
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Search
GEO
for disease gene expression data for Asperger Syndrome, X-Linked 2.
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