AUTS18
MCID: ATS173
MIFTS: 19

Autism 18 (AUTS18)

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

Aliases & Classifications for Autism 18

MalaCards integrated aliases for Autism 18:

Name: Autism 18 58 76
Autism, Susceptibility to, 18 58 30 13 6
Auts18 58 76
Autism, Susceptibility to, Type 18 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33

Classifications:



Summaries for Autism 18

OMIM : 58 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)

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). Related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 76 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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hypertelorism 33 HP:0000316
3 intellectual disability 33 HP:0001249
4 seizures 33 HP:0001250
5 constipation 33 HP:0002019
6 sleep disturbance 33 HP:0002360
7 prominent supraorbital ridges 33 HP:0000336
8 pes planus 33 HP:0001763
9 autism 33 HP:0000717
10 downslanted palpebral fissures 33 HP:0000494
11 pointed chin 33 HP:0000307
12 wide nose 33 HP:0000445
13 tall stature 33 HP:0000098

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CHD8

Anatomical Context for Autism 18

Publications for Autism 18

Variations for Autism 18

ClinVar genetic disease variations for Autism 18:

6 (show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD8 NM_001170629.1(CHD8): c.2317C> T (p.Arg773Ter) single nucleotide variant Likely pathogenic rs776631057 GRCh38 Chromosome 14, 21409898: 21409898
2 CHD8 NM_001170629.1(CHD8): c.2317C> T (p.Arg773Ter) single nucleotide variant Likely pathogenic rs776631057 GRCh37 Chromosome 14, 21878057: 21878057
3 CHD8 NM_001170629.1(CHD8): c.1744C> T (p.Arg582Ter) single nucleotide variant Likely pathogenic rs863224857 GRCh38 Chromosome 14, 21415880: 21415880
4 CHD8 NM_001170629.1(CHD8): c.1744C> T (p.Arg582Ter) single nucleotide variant Likely pathogenic rs863224857 GRCh37 Chromosome 14, 21884039: 21884039
5 CHD8 NM_020920.3(CHD8): c.2875C> T (p.Gln959Ter) single nucleotide variant risk factor rs397514551 GRCh38 Chromosome 14, 21403019: 21403019
6 CHD8 NM_020920.3(CHD8): c.2875C> T (p.Gln959Ter) single nucleotide variant risk factor rs397514551 GRCh37 Chromosome 14, 21871178: 21871178
7 CHD8 NM_020920.3(CHD8): c.3172C> T (p.Arg1058Ter) single nucleotide variant risk factor rs397514552 GRCh37 Chromosome 14, 21870169: 21870169
8 CHD8 NM_020920.3(CHD8): c.3172C> T (p.Arg1058Ter) single nucleotide variant risk factor rs397514552 GRCh38 Chromosome 14, 21402010: 21402010
9 CHD8 NM_001170629.1(CHD8): c.185C> G (p.Ser62Ter) single nucleotide variant risk factor GRCh38 Chromosome 14, 21431459: 21431459
10 CHD8 NM_001170629.1(CHD8): c.185C> G (p.Ser62Ter) single nucleotide variant risk factor GRCh37 Chromosome 14, 21899618: 21899618
11 CHD8 CHD8, 1-BP INS, T insertion risk factor
12 CHD8 CHD8, NT3519, A-G, -2 single nucleotide variant risk factor
13 CHD8 CHD8, 4-BP DEL, CTTC deletion risk factor
14 CHD8 CHD8, 2-BP DEL, CT deletion risk factor
15 CHD8 CHD8, 1-BP INS, T insertion risk factor
16 CHD8 CHD8, 3-BP DEL, GGT deletion risk factor
17 CHD8 NM_020920.3(CHD8): c.4429dupT (p.Tyr1477Leufs) duplication Pathogenic rs886043086 GRCh37 Chromosome 14, 21863195: 21863195
18 CHD8 NM_020920.3(CHD8): c.4429dupT (p.Tyr1477Leufs) duplication Pathogenic rs886043086 GRCh38 Chromosome 14, 21395036: 21395036
19 CHD8 NM_001170629.1(CHD8): c.6518C> A (p.Ser2173Ter) single nucleotide variant Pathogenic rs781575717 GRCh38 Chromosome 14, 21392760: 21392760
20 CHD8 NM_001170629.1(CHD8): c.6518C> A (p.Ser2173Ter) single nucleotide variant Pathogenic rs781575717 GRCh37 Chromosome 14, 21860919: 21860919
21 CHD8 NM_001170629.1(CHD8): c.2434C> T (p.Arg812Trp) single nucleotide variant Likely pathogenic rs1057518651 GRCh37 Chromosome 14, 21876915: 21876915
22 CHD8 NM_001170629.1(CHD8): c.2434C> T (p.Arg812Trp) single nucleotide variant Likely pathogenic rs1057518651 GRCh38 Chromosome 14, 21408756: 21408756
23 CHD8 NM_001170629.1(CHD8): c.4762A> T (p.Arg1588Trp) single nucleotide variant Likely benign rs1057519410 GRCh37 Chromosome 14, 21868195: 21868195
24 CHD8 NM_001170629.1(CHD8): c.4762A> T (p.Arg1588Trp) single nucleotide variant Likely benign rs1057519410 GRCh38 Chromosome 14, 21400036: 21400036
25 CHD8 NM_001170629.1(CHD8): c.161G> T (p.Gly54Val) single nucleotide variant Likely benign rs1057519411 GRCh38 Chromosome 14, 21431483: 21431483
26 CHD8 NM_001170629.1(CHD8): c.161G> T (p.Gly54Val) single nucleotide variant Likely benign rs1057519411 GRCh37 Chromosome 14, 21899642: 21899642
27 CHD8 NM_001170629.1(CHD8): c.3308G> T (p.Gly1103Val) single nucleotide variant Likely pathogenic rs1064795655 GRCh38 Chromosome 14, 21403663: 21403663
28 CHD8 NM_001170629.1(CHD8): c.3308G> T (p.Gly1103Val) single nucleotide variant Likely pathogenic rs1064795655 GRCh37 Chromosome 14, 21871822: 21871822
29 CHD8 NM_001170629.1(CHD8): c.6103C> T (p.Arg2035Ter) single nucleotide variant Pathogenic rs1131691627 GRCh37 Chromosome 14, 21861851: 21861851
30 CHD8 NM_001170629.1(CHD8): c.6103C> T (p.Arg2035Ter) single nucleotide variant Pathogenic rs1131691627 GRCh38 Chromosome 14, 21393692: 21393692
31 CHD8 NM_020920.3(CHD8): c.6+514del deletion Pathogenic rs1135401763 GRCh37 Chromosome 14, 21899456: 21899456
32 CHD8 NM_020920.3(CHD8): c.6+514del deletion Pathogenic rs1135401763 GRCh38 Chromosome 14, 21431297: 21431297
33 CHD8 NM_020920.3(CHD8): c.2887C> T (p.Arg963Ter) single nucleotide variant Pathogenic rs1555314788 GRCh38 Chromosome 14, 21402494: 21402494
34 CHD8 NM_020920.3(CHD8): c.2887C> T (p.Arg963Ter) single nucleotide variant Pathogenic rs1555314788 GRCh37 Chromosome 14, 21870653: 21870653
35 CHD8 NM_020920.3(CHD8): c.3541C> T (p.Arg1181Ter) single nucleotide variant Pathogenic rs1454466097 GRCh37 Chromosome 14, 21868764: 21868764
36 CHD8 NM_020920.3(CHD8): c.3541C> T (p.Arg1181Ter) single nucleotide variant Pathogenic rs1454466097 GRCh38 Chromosome 14, 21400605: 21400605
37 CHD8 NM_001170629.1(CHD8): c.4611delA (p.Val1538Terfs) deletion Likely pathogenic rs1555314317 GRCh37 Chromosome 14, 21868426: 21868426
38 CHD8 NM_001170629.1(CHD8): c.4611delA (p.Val1538Terfs) deletion Likely pathogenic rs1555314317 GRCh38 Chromosome 14, 21400267: 21400267
39 CHD8 NM_001170629.1(CHD8): c.6295G> A (p.Glu2099Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 21393500: 21393500
40 CHD8 NM_001170629.1(CHD8): c.6295G> A (p.Glu2099Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 21861659: 21861659
41 CHD8 NM_001170629.1(CHD8): c.117_133del17 (p.Pro40Leufs) deletion Pathogenic GRCh37 Chromosome 14, 21899670: 21899686
42 CHD8 NM_001170629.1(CHD8): c.117_133del17 (p.Pro40Leufs) deletion Pathogenic GRCh38 Chromosome 14, 21431511: 21431527
43 CHD8 NM_001170629.1(CHD8): c.2565del (p.Asn855Lysfs) deletion Pathogenic GRCh37 Chromosome 14, 21876635: 21876636
44 CHD8 NM_001170629.1(CHD8): c.2565del (p.Asn855Lysfs) deletion Pathogenic GRCh38 Chromosome 14, 21408477: 21408477

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
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50 NCI
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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