MCID: ATS049
MIFTS: 24

Autism Susceptibility, X-Linked 2 malady

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

Aliases & Classifications for Autism Susceptibility, X-Linked 2

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Autism Susceptibility, X-Linked 2, Aliases & Descriptions:

Name: Autism Susceptibility, X-Linked 2 45
Mental Retardation, X-Linked 45 10
 
Autism X-Linked 2 45 22


Classifications:

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


External Ids:

OMIM45 300495

Summaries for Autism Susceptibility, X-Linked 2

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OMIM:45 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is... (300495) more...

MalaCards based summary: Autism Susceptibility, X-Linked 2, also known as mental retardation, x-linked, is related to mental retardation and mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance, and has symptoms including seizures, eeg abnormality and increased serum serotonin. An important gene associated with Autism Susceptibility, X-Linked 2 is NLGN4X (neuroligin 4, X-linked).

Related Diseases for Autism Susceptibility, X-Linked 2

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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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation10.8
2mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance10.7
3mental retardation, x-linked syndromic, turner type10.6
4mental retardation, x-linked syndromic, nascimento-type10.6
5mental retardation, x-linked syndromic, raymond type10.6
6mental retardation, x-linked, with isolated growth hormone deficiency10.6
7mental retardation, x-linked, syndromic, claes-jensen type10.6
8mental retardation, x-linked, syndromic 1310.6
9mental retardation, x-linked 29 and others10.6
10mental retardation, x-linked syndromic 510.6
11mental retardation, x-linked, syndromic 1510.6
12mental retardation, x-linked, syndromic 1710.6
13mental retardation, x-linked 9210.6
14mental retardation, x-linked 9610.6
15mental retardation, x-linked, syndromic 3210.6
16mental retardation, x-linked, snyder-robinson type10.6
17mental retardation, x-linked syndromic, christianson type10.6
18mental retardation, x-linked, fraxe type10.6
19mental retardation, x-linked 310.6
20mental retardation, x-linked syndromic, lubs type10.6
21mental retardation, x-linked, syndromic, hedera type10.5
22mental retardation, x-linked, syndromic 910.5
23mental retardation, x-linked 9710.5
24mental retardation, x-linked, syndromic, chudley-schwartz type10.5
25mental retardation, x-linked, with short stature10.5
26mental retardation, x-linked 30/4710.5
27mental retardation, x-linked, syndromic, martin-probst type10.5
28mental retardation, x-linked 4910.4
29mental retardation, x-linked 9910.4
30mental retardation, x-linked 5010.4
31mental retardation, x-linked 10010.4
32mental retardation, x-linked 9810.4
33mental retardation, x-linked 10110.4
34mental retardation, x-linked 5310.4
35mental retardation, x-linked 2310.4
36mental retardation, x-linked 4210.4
37mental retardation x-linked borderline maoa metabolism anomaly10.4
38mental retardation x-linked dysmorphism10.4
39mental retardation x-linked, south african type10.4
40mental retardation, x-linked, with growth hormone deficiency10.4
41mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor10.4
42mental retardation, x-linked, syndromic, siderius type10.4
43lujan-fryns syndrome10.4
44cerebral creatine deficiency syndrome 110.4
45renpenning syndrome10.4
46partington syndrome10.4
47wilson-turner syndrome10.4
48fragile x syndrome10.4
49alpha-thalassemia x-linked intellectual disability syndrome10.4
50snyder-robinson syndrome10.4

Graphical network of the top 20 diseases related to Autism Susceptibility, X-Linked 2:



Diseases related to autism susceptibility, x-linked 2

Symptoms for Autism Susceptibility, X-Linked 2

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Symptoms by clinical synopsis from OMIM:

300495

Clinical features from OMIM:

300495

HPO human phenotypes related to Autism Susceptibility, X-Linked 2:

(show all 16)
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 childhood onset HP:0011463

Drugs & Therapeutics for Autism Susceptibility, X-Linked 2

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Drug clinical trials:

Search ClinicalTrials for Autism Susceptibility, X-Linked 2

Search NIH Clinical Center for Autism Susceptibility, X-Linked 2

Genetic Tests for Autism Susceptibility, X-Linked 2

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Genetic tests related to Autism Susceptibility, X-Linked 2:

id Genetic test Affiliating Genes
1 Autism, Susceptibility to, X-Linked 222

Anatomical Context for Autism Susceptibility, X-Linked 2

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Animal Models for Autism Susceptibility, X-Linked 2 or affiliated genes

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Publications for Autism Susceptibility, X-Linked 2

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Variations for Autism Susceptibility, X-Linked 2

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Clinvar genetic disease variations for Autism Susceptibility, X-Linked 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NLGN4XNLGN4, 1-BP INS, 1186Tinsertionrisk factor
2NLGN4XNLGN4, 2-BP DEL, 1253AGdeletionPathogenic, risk factor
3NLGN4Xnsv513783deletionPathogenic, risk factor

Expression for genes affiliated with Autism Susceptibility, X-Linked 2

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Search GEO for disease gene expression data for Autism Susceptibility, X-Linked 2.

Pathways for genes affiliated with Autism Susceptibility, X-Linked 2

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Compounds for genes affiliated with Autism Susceptibility, X-Linked 2

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GO Terms for genes affiliated with Autism Susceptibility, X-Linked 2

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Products for genes affiliated with Autism Susceptibility, X-Linked 2

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

Sources for Autism Susceptibility, X-Linked 2

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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