AUTS8
MCID: ATS369
MIFTS: 21

Autism 8 (AUTS8)

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

Aliases & Classifications for Autism 8

MalaCards integrated aliases for Autism 8:

Name: Autism 8 57
Autism Susceptibility 8 57 13
Autism, Susceptibility to, 8 57
Auts2, Formerly 57
Auts8 57

Characteristics:

OMIM®:

57 (Updated 20-May-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 8:
Inheritance multifactorial inheritance heterogeneous sporadic
Onset and clinical course childhood onset


Classifications:



Summaries for Autism 8

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, stereotypical, 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. (607373) (Updated 20-May-2021)

MalaCards based summary : Autism 8, also known as autism susceptibility 8, is related to autism. An important gene associated with Autism 8 is AUTS8 (Autism, Susceptibility To, 8). Affiliated tissues include eye and brain, and related phenotypes are eeg abnormality and increased serum serotonin

Related Diseases for Autism 8

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 8 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autism 11.1

Symptoms & Phenotypes for Autism 8

Human phenotypes related to Autism 8:

31 (show all 12)
# 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 restrictive behavior 31 HP:0000723
10 lack of spontaneous play 31 HP:0000721
11 impaired ability to form peer relationships 31 HP:0000728
12 inflexible adherence to routines or rituals 31 HP:0000732

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-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®:

607373 (Updated 20-May-2021)

Drugs & Therapeutics for Autism 8

Search Clinical Trials , NIH Clinical Center for Autism 8

Genetic Tests for Autism 8

Anatomical Context for Autism 8

MalaCards organs/tissues related to Autism 8:

40
Eye, Brain

Publications for Autism 8

Articles related to Autism 8:

(show all 12)
# 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
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. 57
12192642 2002
4
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
5
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996
6
Clinical and parental predictors of emotion regulation following cognitive behaviour therapy in children with autism. 61
32242453 2020
7
Content and accuracy of vaccine information on pediatrician blogs. 61
29305176 2018
8
The Changing Landscape of Neuroscience Research, 2006-2015: A Bibliometric Study. 61
28377687 2017
9
Fractional anisotropy distributions in 2- to 6-year-old children with autism. 61
22998325 2013
10
Regression, developmental trajectory and associated problems in disorders in the autism spectrum: the SNAP study. 61
18449635 2008
11
Problem behavior interventions for young children with autism: a research synthesis. 61
12463518 2002
12
Randomized trial of intensive early intervention for children with pervasive developmental disorder. 61
10934569 2000

Variations for Autism 8

Expression for Autism 8

Search GEO for disease gene expression data for Autism 8.

Pathways for Autism 8

GO Terms for Autism 8

Sources for Autism 8

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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