AUTS3
MCID: ATS370
MIFTS: 24

Autism 3 (AUTS3)

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

Aliases & Classifications for Autism 3

MalaCards integrated aliases for Autism 3:

Name: Autism 3 57 29
Autism Susceptibility 3 57 13
Autism, Susceptibility to, 3 57
Auts3 57

Characteristics:

OMIM®:

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

Miscellaneous:
genetic heterogeneity (see )
onset by 3 years of age
male to female ratio 4:1
occurs in 2-5 per 10,000 individuals
associated with tuberous sclerosis
associated with untreated phenylketonuria
associated with fragile x syndrome


HPO:

31
autism 3:
Inheritance multifactorial inheritance heterogeneous sporadic
Onset and clinical course childhood onset


Classifications:



Summaries for Autism 3

OMIM® : 57 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850. See also chromosome 13q14 deletion syndrome (613884) in which retinoblastoma and mental retardation are features. (608049) (Updated 05-Apr-2021)

MalaCards based summary : Autism 3, also known as autism susceptibility 3, is related to attention deficit-hyperactivity disorder and autism. An important gene associated with Autism 3 is AUTS3 (Autism, Susceptibility To, 3). Affiliated tissues include eye, brain and occipital lobe, and related phenotypes are eeg abnormality and increased serum serotonin

Related Diseases for Autism 3

Diseases in the Autism family:

Autism 8 Autism 3
Autism 6 Autism 7
Autism 11 Autism 12
Autism 13 Autism 9
Autism 10 Autism 15
Autism 16 Autism 17
Autism 18 Autism 19
Autism 20 Autism Spectrum Disorder
Rare Disease with Autism

Diseases related to Autism 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 attention deficit-hyperactivity disorder 9.7
2 autism 9.7

Symptoms & Phenotypes for Autism 3

Human phenotypes related to Autism 3:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 eeg abnormality 31 frequent (33%) HP:0002353
2 increased serum serotonin 31 frequent (33%) HP:0003144
3 seizure 31 frequent (33%) HP:0001250
4 intellectual disability 31 HP:0001249
5 delayed speech and language development 31 HP:0000750
6 stereotypy 31 HP:0000733
7 autism 31 HP:0000717
8 impaired use of nonverbal behaviors 31 HP:0000758
9 ketonuria 31 HP:0002919
10 restrictive behavior 31 HP:0000723
11 lack of spontaneous play 31 HP:0000721
12 impaired ability to form peer relationships 31 HP:0000728
13 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
Laboratory Abnormalities:
increased serum serotonin in 25%

Neurologic Central Nervous System:
mental retardation in 75%
seizures in 15-30%
eeg abnormalities in 20-50%

Clinical features from OMIM®:

608049 (Updated 05-Apr-2021)

Drugs & Therapeutics for Autism 3

Search Clinical Trials , NIH Clinical Center for Autism 3

Genetic Tests for Autism 3

Genetic tests related to Autism 3:

# Genetic test Affiliating Genes
1 Autism 3 29

Anatomical Context for Autism 3

MalaCards organs/tissues related to Autism 3:

40
Eye, Brain, Occipital Lobe

Publications for Autism 3

Articles related to Autism 3:

(show all 28)
# Title Authors PMID Year
1
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57
18698615 2008
2
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
3
Molecular genetic delineation of a deletion of chromosome 13q12-->q13 in a patient with autism and auditory processing deficits. 57
12826745 2002
4
Brief report: A case of autism with interstitial deletion of chromosome 13. 57
11450821 2001
5
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
6
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996
7
Association of autism, retinoblastoma, and reduced esterase D activity. 57
3377648 1988
8
COVID-19 impacts the expression of molecular markers associated with neuropsychiatric disorders. 61
33521688 2021
9
Short report: Development and utility of the Family-Centered Autism Navigation interview. 61
33238720 2020
10
Autism and Equine-Assisted Interventions: A Systematic Mapping Review. 61
28733851 2017
11
Abnormal fatty acids in Canadian children with autism. 61
26746679 2016
12
Environmental enrichment as a therapy for autism: A clinical trial replication and extension. 61
26052790 2015
13
Adults with autism spectrum disorder as behavior technicians for young children with autism: Outcomes of a behavioral skills training program. 61
25869079 2015
14
Healthcare expenditures for autism during times of school transition: some vulnerable families fall behind. 61
24553795 2014
15
The emergence of untrained mands and tacts in children with autism. 61
22844136 2012
16
Brain imaging investigation of the neural correlates of observing virtual social interactions. 61
21775952 2011
17
The plausibility of a role for mercury in the etiology of autism: a cellular perspective. 61
22163375 2011
18
Distinct face-processing strategies in parents of autistic children. 61
18635351 2008
19
No evidence for a clear link between active intestinal inflammation and autism based on analyses of faecal calprotectin and rectal nitric oxide. 61
17465982 2007
20
Sensory correlations in autism. 61
17353213 2007
21
The pattern of sensory processing abnormalities in autism. 61
16940314 2006
22
Findings of brain 99mTc-ECD SPECT in high-functioning autism--3-dimensional stereotactic ROI template analysis of brain SPECT. 61
15751273 2005
23
Expression of pain in children with autism. 61
14770048 2004
24
Comparison of Sensory Profile scores of young children with and without autism spectrum disorders. 61
11723986 2001
25
CSF beta-endorphin levels in pediatric neurologic disorders. 61
8007632 1993
26
Hypomelanosis of ito is frequently associated with autism. 61
29871409 1992
27
[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging]. 61
1931165 1991
28
Computed tomography of the brain in children with early infantile autism. 61
6336153 1984

Variations for Autism 3

Expression for Autism 3

Search GEO for disease gene expression data for Autism 3.

Pathways for Autism 3

GO Terms for Autism 3

Sources for Autism 3

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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