AUTS20
MCID: ATS474
MIFTS: 21

Autism 20 (AUTS20)

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

Aliases & Classifications for Autism 20

MalaCards integrated aliases for Autism 20:

Name: Autism 20 56
Autism, Susceptibility to, 20 56 6
Auts20 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in early childhood


Classifications:



External Ids:

OMIM 56 618830
OMIM Phenotypic Series 56 PS209850

Summaries for Autism 20

MalaCards based summary : Autism 20, is also known as autism, susceptibility to, 20. An important gene associated with Autism 20 is NLGN1 (Neuroligin 1). The drugs Dopamine and Aripiprazole have been mentioned in the context of this disorder. Affiliated tissues include breast and testes.

More information from OMIM: 618830 PS209850

Related Diseases for Autism 20

Symptoms & Phenotypes for Autism 20

Symptoms via clinical synopsis from OMIM:

56
Neurologic Behavioral Psychiatric Manifestations:
impaired social interactions
autism spectrum disorder
obsessive-compulsive disorder
attention deficit-hyperactivity disorder

Neurologic Central Nervous System:
developmental delay
poor communication
impaired intellectual development (in some patients)
abnormal speech and language development

Clinical features from OMIM:

618830

Drugs & Therapeutics for Autism 20

Drugs for Autism 20 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Aripiprazole Approved, Investigational Phase 2 129722-12-9 60795
3 Dopamine agonists Phase 2
4 Dopamine Agents Phase 2
5 Neurotransmitter Agents Phase 2
6 Dopamine Antagonists Phase 2
7 Antidepressive Agents Phase 2
8 Psychotropic Drugs Phase 2
9 Serotonin Receptor Agonists Phase 2
10 Serotonin 5-HT1 Receptor Agonists Phase 2
11 Antipsychotic Agents Phase 2
12
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open Label Study of Aripiprazole in Children and Adolescents With Autism Spectrum Disorders Completed NCT00619190 Phase 2 aripiprazole

Search NIH Clinical Center for Autism 20

Genetic Tests for Autism 20

Anatomical Context for Autism 20

MalaCards organs/tissues related to Autism 20:

40
Breast, Testes

Publications for Autism 20

Articles related to Autism 20:

(show all 20)
# Title Authors PMID Year
1
A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. 56
30460678 2019
2
Correction: Functional significance of rare neuroligin 1 variants found in autism. 6
28972980 2017
3
Functional significance of rare neuroligin 1 variants found in autism. 56
28841651 2017
4
Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. 6
25190698 2014
5
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 6
23519317 2013
6
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. 6
20466091 2010
7
[Abnormal electroencephalogram features extraction of autistic children based on wavelet transform combined with empirical modal decomposition]. 61
30124014 2018
8
White Matter Abnormalities in Autism and Unaffected Siblings. 61
26404174 2016
9
The relationship development assessment - research version: preliminary validation of a clinical tool and coding schemes to measure parent-child interaction in autism. 61
24366957 2015
10
Understanding emotional transfer in children with autism spectrum disorders. 61
20923895 2010
11
Intensive intervention for children and adolescents with autism in a community setting in Italy: a single-group longitudinal study. 61
20809976 2010
12
Serum levels of 25-hydroxyvitamin D in mothers of Swedish and of Somali origin who have children with and without autism. 61
20219032 2010
13
Deferred and immediate imitation in regressive and early onset autism. 61
18221343 2008
14
Detection of IL-17 and IL-23 in Plasma Samples of Children with Autism. 61
27688738 2008
15
The effects of intellectual functioning and autism severity on outcome of early behavioral intervention for children with autism. 61
16730944 2007
16
Fatty acid compositions of red blood cell phospholipids in children with autism. 61
16581239 2006
17
Essential versus complex autism: definition of fundamental prognostic subtypes. 61
15887228 2005
18
Siblings of a child with autism, with mental retardation and with a normal development. 61
8529293 1995
19
Handedness in childhood autism shows a dissociation of skill and preference. 61
1395641 1992
20
Psychosocial effects on siblings of children with autism and mental retardation: a population-based study. 61
1757979 1991

Variations for Autism 20

ClinVar genetic disease variations for Autism 20:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLGN1 NM_014932.5(NLGN1):c.266C>T (p.Pro89Leu)SNV risk factor 872964
2 NLGN1 NLGN1, LEU269PROSNV risk factor 872965
3 NLGN1 NLGN1, GLY297GLUSNV risk factor 872966

Expression for Autism 20

Search GEO for disease gene expression data for Autism 20.

Pathways for Autism 20

GO Terms for Autism 20

Sources for Autism 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....