AUTSX3
MCID: ATS044
MIFTS: 19

Autism Susceptibility, X-Linked 3 (AUTSX3) malady

Categories: Genetic diseases (common), Neuronal diseases, Mental diseases

Aliases & Classifications for Autism Susceptibility, X-Linked 3

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Aliases & Descriptions for Autism Susceptibility, X-Linked 3:

Name: Autism Susceptibility, X-Linked 3 52 12
Autism, X-Linked 3 70 27
 
Autsx3 70

Characteristics:

HPO:

64
autism susceptibility, x-linked 3:
Inheritance: x-linked inheritance, heterogeneous, multifactorial inheritance, sporadic
Onset and clinical course: childhood onset

Classifications:



External Ids:

OMIM52 300496
MedGen37 C1845336
MeSH39 D001321

Summaries for Autism Susceptibility, X-Linked 3

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OMIM:52 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is... (300496) more...

MalaCards based summary: Autism Susceptibility, X-Linked 3, is also known as autism, x-linked 3, and has symptoms including autism, lack of spontaneous play and restrictive behavior. An important gene associated with Autism Susceptibility, X-Linked 3 is MECP2 (Methyl-CpG Binding Protein 2).

UniProtKB/Swiss-Prot:70 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

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Symptoms & Phenotypes for Autism Susceptibility, X-Linked 3

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Symptoms by clinical synopsis from OMIM:

300496

Clinical features from OMIM:

300496

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

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 autism64 HP:0000717
2 lack of spontaneous play64 HP:0000721
3 restrictive behavior64 HP:0000723
4 inflexible adherence to routines or rituals64 HP:0000732
5 stereotypy64 HP:0000733
6 delayed speech and language development64 HP:0000750
7 impaired use of nonverbal behaviors64 HP:0000758
8 intellectual disability64 HP:0001249
9 seizures64 HP:0001250
10 lack of peer relationships64 HP:0002332
11 eeg abnormality64 HP:0002353
12 increased serum serotonin64 HP:0003144
13 disturbance of facial expression64 HP:0005324

Drugs & Therapeutics for Autism Susceptibility, X-Linked 3

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Interventional clinical trials:

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

Genetic Tests for Autism Susceptibility, X-Linked 3

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

id Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 327

Anatomical Context for Autism Susceptibility, X-Linked 3

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Publications for Autism Susceptibility, X-Linked 3

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Variations for Autism Susceptibility, X-Linked 3

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1MECP2NM_ 004992.3(MECP2): c.473C> T (p.Thr158Met)SNVPathogenic/ Likely pathogenicrs28934906GRCh37Chr X, 153296806: 153296806
2MECP2NM_ 001110792.1(MECP2): c.916C> T (p.Arg306Ter)SNVPathogenic/ Likely pathogenic, risk factorrs61751362GRCh37Chr X, 153296399: 153296399
3MECP2MECP2, 41-BP DEL, NT1157deletionPathogenic, risk factor
4MECP2NM_ 001110792.1(MECP2): c.1483G> T (p.Glu495Ter)SNVrisk factorrs587777421GRCh37Chr X, 153295832: 153295832
5MECP2NM_ 004992.3(MECP2): c.1157_ 1197del41 (p.Leu386Hisfs)deletionPathogenicrs267608327GRCh37Chr X, 153296082: 153296122

Expression for genes affiliated with Autism Susceptibility, X-Linked 3

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

Pathways for genes affiliated with Autism Susceptibility, X-Linked 3

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GO Terms for genes affiliated with Autism Susceptibility, X-Linked 3

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Sources for Autism Susceptibility, X-Linked 3

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet