MCID: ATS044
MIFTS: 20

Autism Susceptibility, X-Linked 3 malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Summaries for Autism Susceptibility, X-Linked 3

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OMIM:45 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 angelman syndrome and rett syndrome, and has symptoms including seizures, eeg abnormality and increased serum serotonin. An important gene associated with Autism Susceptibility, X-Linked 3 is MECP2 (methyl CpG binding protein 2 (Rett syndrome)).

Aliases & Classifications for Autism Susceptibility, X-Linked 3

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

Name: Autism Susceptibility, X-Linked 3 45 10
 
Autism X-Linked 3 45 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Mental diseases


External Ids:

OMIM45 300496

Related Diseases for Autism Susceptibility, X-Linked 3

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Diseases in the Autism Susceptibility, X-Linked 3 family:

Autism Susceptibility, X-Linked 2 Autism Susceptibility, X-Linked 1

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

idRelated DiseaseScoreTop Affiliating Genes
1angelman syndrome10.1MECP2
2rett syndrome10.0MECP2

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 17)
id Description Frequency HPO Source Accession
1 seizures frequent (33%) HP:0001250
2 eeg abnormality frequent (33%) HP:0002353
3 increased serum serotonin frequent (33%) HP:0003144
4 autism HP:0000717
5 lack of spontaneous play HP:0000721
6 restrictive behavior HP:0000723
7 inflexible adherence to routines or rituals HP:0000732
8 stereotypic behavior HP:0000733
9 delayed speech and language development HP:0000750
10 impaired use of nonverbal behaviors HP:0000758
11 intellectual disability HP:0001249
12 x-linked inheritance HP:0001417
13 multifactorial inheritance HP:0001426
14 lack of peer relationships HP:0002332
15 sporadic HP:0003745
16 disturbance of facial expression HP:0005324
17 childhood onset HP:0011463

Drugs & Therapeutics for Autism Susceptibility, X-Linked 3

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Drug clinical trials:

Search ClinicalTrials for Autism Susceptibility, X-Linked 3

Search 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 322

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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MECP2NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter)single nucleotide variantPathogenic, risk factorrs61751362GRCh37Chr X, 153296399: 153296399
2MECP2NM_001110792.1(MECP2): c.1483G> T (p.Glu495Ter)single nucleotide variantrisk factorGRCh37Chr X, 153295832: 153295832

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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Compounds 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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Products for genes affiliated with Autism Susceptibility, X-Linked 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Autism Susceptibility, X-Linked 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet