MCID: ATS044
MIFTS: 22

Autism Susceptibility, X-Linked 3

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Autism Susceptibility, X-Linked 3

MalaCards integrated aliases for Autism Susceptibility, X-Linked 3:

Name: Autism Susceptibility, X-Linked 3 54 13
Autism, Susceptibility to, X-Linked 3 29
Autism, X-Linked 3 71
Autsx3 71

Characteristics:

OMIM:

54
Inheritance:
isolated cases
multifactorial
x-linked

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
allelic disorder to rett syndrome


HPO:

32
autism susceptibility, x-linked 3:
Onset and clinical course childhood onset
Inheritance heterogeneous sporadic x-linked inheritance multifactorial inheritance


Classifications:



Summaries for Autism Susceptibility, X-Linked 3

OMIM : 54
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. (300496)

MalaCards based summary : Autism Susceptibility, X-Linked 3, is also known as autism, susceptibility to, x-linked 3, and has symptoms including seizures, intellectual disability and autism. An important gene associated with Autism Susceptibility, X-Linked 3 is MECP2 (Methyl-CpG Binding Protein 2). Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 Autism, X-linked 3: 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 Susceptibility, X-Linked 3

Symptoms & Phenotypes for Autism Susceptibility, X-Linked 3

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
impaired social interaction
impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
lack of peer relationships
impaired language development
lack of spontaneous play
more
Laboratory- Abnormalities:
increased serum serotonin in 25%


Clinical features from OMIM:

300496

Human phenotypes related to Autism Susceptibility, X-Linked 3:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 seizures 32 frequent (33%) HP:0001250
2 intellectual disability 32 HP:0001249
3 autism 32 HP:0000717
4 delayed speech and language development 32 HP:0000750
5 lack of peer relationships 32 HP:0002332
6 lack of spontaneous play 32 HP:0000721
7 inflexible adherence to routines or rituals 32 HP:0000732
8 eeg abnormality 32 frequent (33%) HP:0002353
9 stereotypy 32 HP:0000733
10 impaired use of nonverbal behaviors 32 HP:0000758
11 restrictive behavior 32 HP:0000723
12 increased serum serotonin 32 frequent (33%) HP:0003144
13 disturbance of facial expression 32 HP:0005324

Drugs & Therapeutics for Autism Susceptibility, X-Linked 3

Search Clinical Trials , NIH Clinical Center for Autism Susceptibility, X-Linked 3

Genetic Tests for Autism Susceptibility, X-Linked 3

Genetic tests related to Autism Susceptibility, X-Linked 3:

id Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 3 29

Anatomical Context for Autism Susceptibility, X-Linked 3

MalaCards organs/tissues related to Autism Susceptibility, X-Linked 3:

39
Eye

Publications for Autism Susceptibility, X-Linked 3

Variations for Autism Susceptibility, X-Linked 3

ClinVar genetic disease variations for Autism Susceptibility, X-Linked 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MECP2 NM_004992.3(MECP2): c.473C> T (p.Thr158Met) single nucleotide variant Pathogenic/Likely pathogenic rs28934906 GRCh37 Chromosome X, 153296806: 153296806
2 MECP2 NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs61751362 GRCh37 Chromosome X, 153296399: 153296399
3 MECP2 MECP2, 41-BP DEL, NT1157 deletion Pathogenic,risk factor
4 MECP2 NM_001110792.1(MECP2): c.1483G> T (p.Glu495Ter) single nucleotide variant risk factor rs587777421 GRCh37 Chromosome X, 153295832: 153295832
5 MECP2 NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs) deletion Pathogenic rs267608327 GRCh37 Chromosome X, 153296082: 153296122

Expression for Autism Susceptibility, X-Linked 3

Search GEO for disease gene expression data for Autism Susceptibility, X-Linked 3.

Pathways for Autism Susceptibility, X-Linked 3

GO Terms for Autism Susceptibility, X-Linked 3

Sources for Autism Susceptibility, X-Linked 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....