ASPG1
MCID: ASP032
MIFTS: 23

Asperger Syndrome 1 (ASPG1)

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

Aliases & Classifications for Asperger Syndrome 1

MalaCards integrated aliases for Asperger Syndrome 1:

Name: Asperger Syndrome 1 57
Asperger Syndrome, Susceptibility to, 1 57 70
Asperger Syndrome Susceptibility 1 57 13
Aspg1 57

Characteristics:

OMIM®:

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

Miscellaneous:
genetic heterogeneity
onset in early childhood


HPO:

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


Classifications:



External Ids:

OMIM® 57 608638
OMIM Phenotypic Series 57 PS608638
MedGen 41 C1837646
UMLS 70 C1837646

Summaries for Asperger Syndrome 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. (608638) (Updated 05-Apr-2021)

MalaCards based summary : Asperger Syndrome 1, also known as asperger syndrome, susceptibility to, 1, is related to asperger syndrome and autism. An important gene associated with Asperger Syndrome 1 is ASPG1 (Asperger Syndrome, Susceptibility To, 1). Affiliated tissues include eye and caudate nucleus, and related phenotypes are stereotypy and autism

Related Diseases for Asperger Syndrome 1

Diseases in the Asperger Syndrome family:

Asperger Syndrome 2 Asperger Syndrome 1
Asperger Syndrome 3 Asperger Syndrome 4

Diseases related to Asperger Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 asperger syndrome 11.0
2 autism 10.8
3 autism x-linked 1 10.8
4 autism x-linked 2 10.8
5 autism x-linked 3 10.8
6 autism x-linked 4 10.8
7 autism x-linked 5 10.8
8 autism x-linked 6 10.8
9 autism 8 10.8
10 autism 3 10.8
11 asperger syndrome 2 10.8
12 asperger syndrome 3 10.8
13 autism 6 10.8
14 asperger syndrome 4 10.8
15 autism 7 10.8
16 autism 11 10.8
17 autism 12 10.8
18 autism 13 10.8
19 autism 9 10.8
20 autism 10 10.8
21 autism 15 10.8
22 autism 16 10.8
23 autism 17 10.8
24 autism 18 10.8
25 schopf-schulz-passarge syndrome 10.0

Graphical network of the top 20 diseases related to Asperger Syndrome 1:



Diseases related to Asperger Syndrome 1

Symptoms & Phenotypes for Asperger Syndrome 1

Human phenotypes related to Asperger Syndrome 1:

31 (show all 8)
# 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 autism with high cognitive abilities 31 HP:0000753
5 restrictive behavior 31 HP:0000723
6 lack of spontaneous play 31 HP:0000721
7 impaired ability to form peer relationships 31 HP:0000728
8 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®:

608638 (Updated 05-Apr-2021)

Drugs & Therapeutics for Asperger Syndrome 1

Search Clinical Trials , NIH Clinical Center for Asperger Syndrome 1

Genetic Tests for Asperger Syndrome 1

Anatomical Context for Asperger Syndrome 1

MalaCards organs/tissues related to Asperger Syndrome 1:

40
Eye, Caudate Nucleus

Publications for Asperger Syndrome 1

Articles related to Asperger Syndrome 1:

(show all 12)
# Title Authors PMID Year
1
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. 57
12192642 2002
2
Prevalence of autism in a United States population: the Brick Township, New Jersey, investigation. 57
11694696 2001
3
The Asperger Syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview. 57
11708390 2001
4
Asperger syndrome and high-functioning autism. 57
9614468 1998
5
Arabidopsis Aspartic Protease ASPG1 Affects Seed Dormancy, Seed Longevity and Seed Germination. 61
29648652 2018
6
[On the benefits to keep using the asperger diagnosis]. 61
28525211 2016
7
Transcriptome Profiling of the Potato (Solanum tuberosum L.) Plant under Drought Stress and Water-Stimulus Conditions. 61
26010543 2015
8
Spirochaeta sphaeroplastigenens sp. nov., a halo-alkaliphilic, obligately anaerobic spirochaete isolated from soda lake Lonar. 61
23148099 2013
9
Overexpression of the aspartic protease ASPG1 gene confers drought avoidance in Arabidopsis. 61
22268147 2012
10
Caudate nucleus is enlarged in high-functioning medication-naive subjects with autism. 61
17224135 2007
11
Spirochaeta americana sp. nov., a new haloalkaliphilic, obligately anaerobic spirochaete isolated from soda Mono Lake in California. 61
12807206 2003
12
Conjunctival epithelial cell differentiation on amniotic membrane. 61
10102284 1999

Variations for Asperger Syndrome 1

Expression for Asperger Syndrome 1

Search GEO for disease gene expression data for Asperger Syndrome 1.

Pathways for Asperger Syndrome 1

GO Terms for Asperger Syndrome 1

Sources for Asperger Syndrome 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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