MCID: MNT063
MIFTS: 29

Mental Retardation, X-Linked malady

Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases, Metabolic diseases, Blood diseases categories
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Summaries for Mental Retardation, X-Linked

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Wikipedia:65 X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of... more...

MalaCards based summary: Mental Retardation, X-Linked is related to mental retardation and mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance. An important gene associated with Mental Retardation, X-Linked is NLGN4X (neuroligin 4, X-linked), and among its related pathways is GABA signaling in brain.

Description from OMIM:46 300495

Aliases & Classifications for Mental Retardation, X-Linked

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Mental Retardation, X-Linked, Aliases & Descriptions:

Name: Mental Retardation, X-Linked 46


Classifications:



Related Diseases for Mental Retardation, X-Linked

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Diseases in the Mental Retardation, X-Linked 3 family:

X-Linked Mental Retardation 21 Syp-Related X-Linked Mental Retardation
Znf711-Related X-Linked Mental Retardation Fgd1-Related X-Linked Mental Retardation
Kiaa2022-Related X-Linked Mental Retardation Znf674-Related X-Linked Mental Retardation
mental retardation, x-linked Mental Retardation, X-Linked 49
Mental Retardation, X-Linked 99 Mental Retardation, X-Linked 92
Mental Retardation, X-Linked 50 Mental Retardation, X-Linked 96
Mental Retardation, X-Linked 100 Mental Retardation, X-Linked 98
Mental Retardation, X-Linked 97 Mental Retardation, X-Linked 101
Mental Retardation, X-Linked 53 Mental Retardation, X-Linked 30/47
Mental Retardation, X-Linked 23 Mental Retardation, X-Linked 42

Diseases related to Mental Retardation, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.1ARX, PAK3, FTSJ1, MECP2, ACSL4, IL1RAPL1
2mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance10.6
3ppm-x syndrome10.6
4mental retardation, x-linked, syndromic, raymond type10.5
5mental retardation, x-linked, syndromic, nascimento type10.5
6mental retardation, x-linked, syndromic, turner type10.5
7fragile x syndrome10.4
8snyder-robinson syndrome10.4
9christianson syndrome10.4
10dandy-walker malformation with intellectual disability, basal ganglia disease and seizures10.4
11lujan fryns syndrome10.4
12prieto x-linked mental retardation syndrome10.4
13mental retardation, x-linked, syndromic 1510.4
14mental retardation, x-linked, with isolated growth hormone deficiency10.4
15alpha-thalassemia x-linked intellectual disability syndrome10.4
16atkin syndrome10.4
17hyde forster mccarthy berry syndrome10.4
18mental retardation x-linked borderline maoa metabolism anomaly10.4
19mental retardation x-linked dysmorphism10.4
20mental retardation x-linked, south african type10.4
21miles-carpenter x-linked mental retardation syndrome10.4
22partington x-linked mental retardation syndrome10.4
23renpenning syndrome 110.4
24wilson-turner x-linked mental retardation syndrome10.4
25x-linked creatine deficiency10.4
26x-linked mental retardation gustavson type10.4
27mental retardation, x-linked, with growth hormone deficiency10.4
28mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor10.4
29mental retardation, x-linked, syndromic, martin-probst type10.4
30mental retardation, x-linked 4910.4
31mental retardation, x-linked 29 and others10.4
32mental retardation, x-linked, syndromic 1710.4
33mental retardation, x-linked, syndromic, hedera type10.4
34mental retardation, x-linked 9910.4
35mental retardation, x-linked 9210.4
36mental retardation, x-linked 5010.4
37mental retardation, x-linked 9610.4
38mental retardation, x-linked, syndromic 910.4
39mental retardation, x-linked 10010.4
40mental retardation, x-linked 9810.4
41mental retardation, x-linked syndromic, abidi type10.4
42mental retardation, x-linked 9710.4
43mental retardation, x-linked, syndromic, chudley-schwartz type10.4
44mental retardation, x-linked 10110.4
45mental retardation, x-linked 5310.4
46mental retardation, x-linked 30/4710.4
47mental retardation, x-linked 2310.4
48mental retardation, x-linked, with short stature10.4
49mental retardation, x-linked 4210.4
50mental retardation, x-linked syndromic, shashi type10.4

Graphical network of the top 20 diseases related to Mental Retardation, X-Linked:



Diseases related to mental retardation, x-linked

Symptoms for Mental Retardation, X-Linked

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Clinical features from OMIM:

300495

Drugs & Therapeutics for Mental Retardation, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Mental Retardation, X-Linked

Search NIH Clinical Center for Mental Retardation, X-Linked

Genetic Tests for Mental Retardation, X-Linked

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Anatomical Context for Mental Retardation, X-Linked

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Animal Models for Mental Retardation, X-Linked or affiliated genes

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Publications for Mental Retardation, X-Linked

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Articles related to Mental Retardation, X-Linked:

idTitleAuthorsYear
1
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. (19320024)
2009
2
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. (19320023)
2009
3
Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental retardation, X-linked. (19320021)
2009
4
Alpha thalassaemia-mental retardation, X linked. (16722615)
2006
5
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). (16831221)
2006

Variations for Mental Retardation, X-Linked

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Clinvar genetic disease variations for Mental Retardation, X-Linked:

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

Expression for genes affiliated with Mental Retardation, X-Linked

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Expression patterns in normal tissues for genes affiliated with Mental Retardation, X-Linked

Search GEO for disease gene expression data for Mental Retardation, X-Linked.

Pathways for genes affiliated with Mental Retardation, X-Linked

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Pathways related to Mental Retardation, X-Linked according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8NLGN4X, MECP2

Compounds for genes affiliated with Mental Retardation, X-Linked

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GO Terms for genes affiliated with Mental Retardation, X-Linked

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Biological processes related to Mental Retardation, X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synapse organizationGO:05080810.0NLGN4X, PAK3
2presynaptic membrane assemblyGO:0971059.9NLGN4X, IL1RAPL1
3cerebellum developmentGO:0215499.8NLGN4X, MECP2
4neuron differentiationGO:0301829.7NLGN4X, IL1RAPL1
5dendrite developmentGO:0163589.7PAK3, MECP2
6social behaviorGO:0351769.5NLGN4X, MECP2

Molecular functions related to Mental Retardation, X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036828.8ARX, MECP2, HCFC1
2sequence-specific DNA binding transcription factor activityGO:0037008.8ARX, ZNF81, MECP2, HCFC1

Products for genes affiliated with Mental Retardation, X-Linked

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  • Antibodies
  • Proteins
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Sources for Mental Retardation, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet