AUTSX3
MCID: ATS044
MIFTS: 19

Autism Susceptibility, X-Linked 3 (AUTSX3) malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Autism Susceptibility, X-Linked 3

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

Name: Autism Susceptibility, X-Linked 3 54 13
Autism, X-Linked 3 66 29
Autsx3 66

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 300496
MedGen 40 C1845336
MeSH 42 D001321

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... (300496) more...

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

UniProtKB/Swiss-Prot : 66 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 by clinical synopsis from OMIM:

300496

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 HP:0001250
2 intellectual disability 32 HP:0001249
3 eeg abnormality 32 HP:0002353
4 delayed speech and language development 32 HP:0000750
5 stereotypy 32 HP:0000733
6 autism 32 HP:0000717
7 impaired use of nonverbal behaviors 32 HP:0000758
8 restrictive behavior 32 HP:0000723
9 lack of spontaneous play 32 HP:0000721
10 inflexible adherence to routines or rituals 32 HP:0000732
11 increased serum serotonin 32 HP:0003144
12 lack of peer relationships 32 HP:0002332
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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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