MCID: ATS044
MIFTS: 23

Autism Susceptibility, X-Linked 3 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 49 11
Autism, X-Linked 3 67 24
 
Autsx3 67

Characteristics:

HPO:

61
autism susceptibility, x-linked 3:
Onset and clinical course: childhood onset
Inheritance: sporadic, multifactorial inheritance, x-linked inheritance


Classifications:



External Ids:

OMIM49 300496
MedGen34 C1845336
MeSH36 D001321

Summaries for Autism Susceptibility, X-Linked 3

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OMIM:49 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, also known as autism, x-linked 3, is related to autism susceptibility, x-linked 3 and mental retardation, x-linked syndromic, lubs type, and has symptoms including increased serum serotonin, eeg abnormality and seizures. An important gene associated with Autism Susceptibility, X-Linked 3 is MECP2 (Methyl-CpG Binding Protein 2).

UniProtKB/Swiss-Prot:67 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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Diseases in the Autism Susceptibility, X-Linked 2 family:

Autism Susceptibility, X-Linked 1 autism susceptibility, x-linked 3

Diseases related to Autism Susceptibility, X-Linked 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1autism susceptibility, x-linked 39.7MECP2, MRXSL
2mental retardation, x-linked syndromic, lubs type9.7MECP2, MRXSL
3mental retardation, x-linked, syndromic 139.7MECP2, MRXSL
4microphthalmia, syndromic 19.6MECP2, MRXSL
5encephalopathy, neonatal severe9.5MECP2, MRXSL

Graphical network of diseases related to Autism Susceptibility, X-Linked 3:



Diseases related to autism susceptibility, x-linked 3

Symptoms for Autism Susceptibility, X-Linked 3

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Symptoms by clinical synopsis from OMIM:

300496

Clinical features from OMIM:

300496

HPO human phenotypes related to Autism Susceptibility, X-Linked 3:

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

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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Anatomical Context for Autism Susceptibility, X-Linked 3

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Animal Models for Autism Susceptibility, X-Linked 3 or affiliated genes

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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)single nucleotide variantPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
2MECP2NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter)single nucleotide variantPathogenic, risk factorrs61751362GRCh37Chr X, 153296399: 153296399
3MECP2MECP2, 41-BP DEL, NT1157deletionPathogenic, risk factor
4MECP2NM_001110792.1(MECP2): c.1483G> T (p.Glu495Ter)single nucleotide variantrisk factorrs587777421GRCh37Chr X, 153295832: 153295832
5MECP2NM_004992.3(MECP2): c.1157_1197del41 (p.Leu386Hisfs)deletionPathogenicrs267608327GRCh37Chr X, 153296082: 153296122
6MECP2NM_004992.3(MECP2): c.1164_1207del44 (p.Pro389Terfs)deletionPathogenicrs61752992GRCh37Chr X, 153296072: 153296115
7MECP2NM_004992.3(MECP2): c.925C> T (p.Arg309Trp)single nucleotide variantPathogenicrs61751444GRCh37Chr X, 153296354: 153296354

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet