AUTS18
MCID: ATS173
MIFTS: 27

Autism 18 (AUTS18)

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

Aliases & Classifications for Autism 18

MalaCards integrated aliases for Autism 18:

Name: Autism 18 57 72
Autism, Susceptibility to, 18 57 29 13 6
Auts18 57 72
Autism, Susceptibility to, Type 18 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31

Classifications:



Summaries for Autism 18

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. (615032) (Updated 20-May-2021)

MalaCards based summary : Autism 18, is also known as autism, susceptibility to, 18. An important gene associated with Autism 18 is CHD8 (Chromodomain Helicase DNA Binding Protein 8). Affiliated tissues include eye and brain, and related phenotypes are macrocephaly and intellectual disability

UniProtKB/Swiss-Prot : 72 Autism 18: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.

Related Diseases for Autism 18

Symptoms & Phenotypes for Autism 18

Human phenotypes related to Autism 18:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 very rare (1%) HP:0000256
2 intellectual disability 31 very rare (1%) HP:0001249
3 sleep disturbance 31 very rare (1%) HP:0002360
4 constipation 31 very rare (1%) HP:0002019
5 hypertelorism 31 very rare (1%) HP:0000316
6 prominent supraorbital ridges 31 very rare (1%) HP:0000336
7 pes planus 31 very rare (1%) HP:0001763
8 autism 31 very rare (1%) HP:0000717
9 anxiety 31 very rare (1%) HP:0000739
10 downslanted palpebral fissures 31 very rare (1%) HP:0000494
11 tall stature 31 very rare (1%) HP:0000098
12 overweight 31 very rare (1%) HP:0025502
13 seizure 31 very rare (1%) HP:0001250
14 pointed chin 31 HP:0000307
15 wide nose 31 HP:0000445

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
tall (86%)

Head And Neck Eyes:
supraorbital ridge (78%)
downslanting palpebral fissures (67%)

Neurologic Central Nervous System:
autism (80%)
intellectual disability (60%)
seizures (20%)
regression (47%)

Head And Neck Head:
macrocephaly (80%)

Abdomen Gastrointestinal:
gastrointestinal problems (80%)
constipation (60%)

Neurologic Behavioral Psychiatric Manifestations:
sleep disturbances (67%)
difficulty falling asleep (44%)

Clinical features from OMIM®:

615032 (Updated 20-May-2021)

Drugs & Therapeutics for Autism 18

Search Clinical Trials , NIH Clinical Center for Autism 18

Genetic Tests for Autism 18

Genetic tests related to Autism 18:

# Genetic test Affiliating Genes
1 Autism, Susceptibility to, 18 29 CHD8

Anatomical Context for Autism 18

MalaCards organs/tissues related to Autism 18:

40
Eye, Brain

Publications for Autism 18

Articles related to Autism 18:

(show all 20)
# Title Authors PMID Year
1
Disruptive CHD8 mutations define a subtype of autism early in development. 6 57
24998929 2014
2
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 6 57
23160955 2012
3
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 6 57
22495309 2012
4
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review. 6
26789910 2016
5
Patterns and rates of exonic de novo mutations in autism spectrum disorders. 57
22495311 2012
6
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 57
22495306 2012
7
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 57
21572417 2011
8
Hypothesis: dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. 57
18698615 2008
9
Evidence for multiple loci from a genome scan of autism kindreds. 57
16880825 2006
10
A genomic screen of autism: evidence for a multilocus etiology. 57
10417292 1999
11
Autism: towards an integration of clinical, genetic, neuropsychological, and neurobiological perspectives. 57
8655659 1996
12
Putting Your Money Where Your Mouth is: Examining Metacognition in ASD Using Post-decision Wagering. 61
31292897 2019
13
Prevalence of Autism Spectrum Disorder (ASD) among the children aged 18-36 months in a rural community of Bangladesh: A cross sectional study. 61
30026928 2018
14
The Relation between Severity of Autism and Caregiver-Child Interaction: a Study in the Context of Relationship Development Intervention. 61
26298470 2016
15
Pitch Processing in Tonal-Language-Speaking Children with Autism: An Event-Related Potential Study. 61
26111738 2015
16
Evaluation of Periodic Limb Movements in Sleep and Iron Status in Children With Autism. 61
26231264 2015
17
Suicide ideation and attempts in children with psychiatric disorders and typical development. 61
25410255 2015
18
Sleep in children with autism with and without autistic regression. 61
21518065 2011
19
Etiologic yield of autistic spectrum disorders: a prospective study. 61
16419094 2006
20
Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism. 61
12898583 2003

Variations for Autism 18

ClinVar genetic disease variations for Autism 18:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD8 NM_001170629.2(CHD8):c.4009C>T (p.Arg1337Ter) SNV Pathogenic 39630 rs397514552 GRCh37: 14:21870169-21870169
GRCh38: 14:21402010-21402010
2 CHD8 NM_001170629.2(CHD8):c.6518C>A (p.Ser2173Ter) SNV Pathogenic 374261 rs781575717 GRCh37: 14:21860919-21860919
GRCh38: 14:21392760-21392760
3 CHD8 NM_020920.4(CHD8):c.6+514del Deletion Pathogenic 431177 rs1135401763 GRCh37: 14:21899456-21899456
GRCh38: 14:21431297-21431297
4 CHD8 NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter) SNV Pathogenic 437423 rs1555314788 GRCh37: 14:21870653-21870653
GRCh38: 14:21402494-21402494
5 CHD8 NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter) SNV Pathogenic 488481 rs1454466097 GRCh37: 14:21868764-21868764
GRCh38: 14:21400605-21400605
6 CHD8 NM_001170629.2(CHD8):c.117_133del (p.Pro40fs) Deletion Pathogenic 560292 rs1566446604 GRCh37: 14:21899670-21899686
GRCh38: 14:21431511-21431527
7 CHD8 NM_001170629.2(CHD8):c.2565del (p.Asn855fs) Deletion Pathogenic 560977 rs1566427770 GRCh37: 14:21876636-21876636
GRCh38: 14:21408477-21408477
8 CHD8 NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter) SNV Pathogenic 869427 GRCh37: 14:21871368-21871368
GRCh38: 14:21403209-21403209
9 CHD8 NM_001170629.2(CHD8):c.6730C>T (p.Arg2244Ter) SNV Pathogenic 807384 rs1555313027 GRCh37: 14:21860707-21860707
GRCh38: 14:21392548-21392548
10 CHD8 NM_001170629.2(CHD8):c.634C>T (p.Arg212Ter) SNV Pathogenic 811149 rs556977377 GRCh37: 14:21899169-21899169
GRCh38: 14:21431010-21431010
11 CHD8 NM_001170629.2(CHD8):c.4871G>A (p.Trp1624Ter) SNV Pathogenic 973313 GRCh37: 14:21867811-21867811
GRCh38: 14:21399652-21399652
12 CHD8 NM_001170629.2(CHD8):c.2364+2T>C SNV Pathogenic 493140 rs748109741 GRCh37: 14:21878008-21878008
GRCh38: 14:21409849-21409849
13 CHD8 NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter) SNV Pathogenic 1029213 GRCh37: 14:21866049-21866049
GRCh38: 14:21397890-21397890
14 CHD8 NM_001170629.2(CHD8):c.4574dup (p.Ser1526fs) Duplication Likely pathogenic 981623 GRCh37: 14:21868462-21868463
GRCh38: 14:21400303-21400304
15 CHD8 NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter) SNV Likely pathogenic 1033349 GRCh37: 14:21868213-21868213
GRCh38: 14:21400054-21400054
16 CHD8 NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe) SNV Likely pathogenic 703591 rs200566427 GRCh37: 14:21861393-21861393
GRCh38: 14:21393234-21393234
17 CHD8 NM_001170629.2(CHD8):c.7094G>A (p.Trp2365Ter) SNV Likely pathogenic 1027362 GRCh37: 14:21859194-21859194
GRCh38: 14:21391035-21391035
18 CHD8 GRCh37/hg19 14q11.2(chr14:21887312-21918282) copy number loss Likely pathogenic 975814 GRCh37: 14:21887312-21918282
GRCh38:
19 CHD8 NM_001170629.2(CHD8):c.4727+1del Deletion Likely pathogenic 827815 rs1594340060 GRCh37: 14:21868309-21868309
GRCh38: 14:21400150-21400150
20 CHD8 NM_001170629.2(CHD8):c.6344_6345del (p.Leu2114_Tyr2115insTer) Deletion Likely pathogenic 635468 rs1594329885 GRCh37: 14:21861388-21861389
GRCh38: 14:21393229-21393230
21 CHD8 NM_001170629.2(CHD8):c.5534_5543del (p.Lys1845fs) Deletion Likely pathogenic 666292 rs1594331875 GRCh37: 14:21862492-21862501
GRCh38: 14:21394333-21394342
22 CHD8 NM_001170629.2(CHD8):c.4611del (p.Lys1537_Val1538insTer) Deletion Likely pathogenic 520408 rs1555314317 GRCh37: 14:21868426-21868426
GRCh38: 14:21400267-21400267
23 CHD8 NM_001170629.2(CHD8):c.6295G>A (p.Glu2099Lys) SNV Likely pathogenic 560286 rs1555313219 GRCh37: 14:21861659-21861659
GRCh38: 14:21393500-21393500
24 CHD8 NM_001170629.2(CHD8):c.6103C>T (p.Arg2035Ter) SNV Likely pathogenic 429840 rs1131691627 GRCh37: 14:21861851-21861851
GRCh38: 14:21393692-21393692
25 CHD8 NM_001170629.2(CHD8):c.2434C>T (p.Arg812Trp) SNV Likely pathogenic 374259 rs1057518651 GRCh37: 14:21876915-21876915
GRCh38: 14:21408756-21408756
26 CHD8 CHD8, 4-BP DEL, CTTC Deletion risk factor 39631 GRCh37:
GRCh38:
27 CHD8 CHD8, 2-BP DEL, CT Deletion risk factor 39632 GRCh37:
GRCh38:
28 CHD8 CHD8, 1-BP INS, T Insertion risk factor 39633 GRCh37:
GRCh38:
29 CHD8 CHD8, 3-BP DEL, GGT Deletion risk factor 39634 GRCh37:
GRCh38:
30 CHD8 NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter) SNV Likely pathogenic 216903 rs863224857 GRCh37: 14:21884039-21884039
GRCh38: 14:21415880-21415880
31 CHD8 NM_001170629.2(CHD8):c.2317C>T (p.Arg773Ter) SNV Likely pathogenic 216902 rs776631057 GRCh37: 14:21878057-21878057
GRCh38: 14:21409898-21409898
32 CHD8 NM_001170629.2(CHD8):c.185C>G (p.Ser62Ter) SNV risk factor 39626 rs1331026006 GRCh37: 14:21899618-21899618
GRCh38: 14:21431459-21431459
33 CHD8 CHD8, 1-BP INS, T Insertion risk factor 39627 GRCh37:
GRCh38:
34 CHD8 NM_001170629.2(CHD8):c.3519-2A>G SNV risk factor 39628 rs1594344233 GRCh37: 14:21871373-21871373
GRCh38: 14:21403214-21403214
35 CHD8 NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter) SNV risk factor 39629 rs397514551 GRCh37: 14:21871178-21871178
GRCh38: 14:21403019-21403019
36 CHD8 NM_001170629.2(CHD8):c.410G>A (p.Gly137Asp) SNV Uncertain significance 931195 GRCh37: 14:21899393-21899393
GRCh38: 14:21431234-21431234
37 CHD8 NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg) SNV Uncertain significance 931698 GRCh37: 14:21883903-21883903
GRCh38: 14:21415744-21415744
38 CHD8 NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser) SNV Uncertain significance 931928 GRCh37: 14:21862205-21862205
GRCh38: 14:21394046-21394046
39 CHD8 NM_001170629.2(CHD8):c.3052-11A>G SNV Uncertain significance 976224 GRCh37: 14:21873634-21873634
GRCh38: 14:21405475-21405475
40 CHD8 NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) SNV Uncertain significance 284182 rs553367989 GRCh37: 14:21896304-21896304
GRCh38: 14:21428145-21428145
41 CHD8 NM_001170629.2(CHD8):c.412G>C (p.Val138Leu) SNV Uncertain significance 1029212 GRCh37: 14:21899391-21899391
GRCh38: 14:21431232-21431232
42 CHD8 NM_001170629.2(CHD8):c.4921+5G>A SNV Uncertain significance 195864 rs377595194 GRCh37: 14:21867756-21867756
GRCh38: 14:21399597-21399597
43 CHD8 NM_001170629.2(CHD8):c.1030G>A (p.Val344Met) SNV Uncertain significance 930650 GRCh37: 14:21897308-21897308
GRCh38: 14:21429149-21429149
44 CHD8 NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu) SNV Uncertain significance 589310 rs967570036 GRCh37: 14:21854057-21854057
GRCh38: 14:21385898-21385898
45 CHD8 NM_001170629.2(CHD8):c.4592G>A (p.Arg1531His) SNV Uncertain significance 1064564 GRCh37: 14:21868445-21868445
GRCh38: 14:21400286-21400286
46 CHD8 NM_001170629.2(CHD8):c.6496C>T (p.Leu2166Phe) SNV Uncertain significance 996899 GRCh37: 14:21860941-21860941
GRCh38: 14:21392782-21392782
47 CHD8 NM_001170629.2(CHD8):c.7079G>A (p.Arg2360His) SNV Uncertain significance 1030270 GRCh37: 14:21859209-21859209
GRCh38: 14:21391050-21391050
48 CHD8 NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) SNV Uncertain significance 289377 rs201604061 GRCh37: 14:21862633-21862633
GRCh38: 14:21394474-21394474
49 CHD8 NM_001170629.2(CHD8):c.4762A>T (p.Arg1588Trp) SNV Likely benign 375626 rs1057519410 GRCh37: 14:21868195-21868195
GRCh38: 14:21400036-21400036
50 CHD8 NM_001170629.2(CHD8):c.161G>T (p.Gly54Val) SNV Likely benign 375627 rs1057519411 GRCh37: 14:21899642-21899642
GRCh38: 14:21431483-21431483

Expression for Autism 18

Search GEO for disease gene expression data for Autism 18.

Pathways for Autism 18

GO Terms for Autism 18

Sources for Autism 18

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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