MCID: MNT063
MIFTS: 28

Mental Retardation, X-Linked malady

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

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of... more...

MalaCards: 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 PAK3 (p21 protein (Cdc42/Rac)-activated kinase 3).

Description from OMIM:47 300495

Aliases & Classifications for Mental Retardation, X-Linked

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47OMIM
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Classifications:



Aliases & Descriptions:

mental retardation, x-linked 47


Related Diseases for Mental Retardation, X-Linked

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17GeneCards, 18GeneDecks
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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 29 Mental Retardation, X-Linked 99
Mental Retardation, X-Linked 92 Mental Retardation, X-Linked 50
Mental Retardation, X-Linked 96 Mental Retardation, X-Linked 98
Mental Retardation, X-Linked 97 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 77)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.9PAK3, FTSJ1, MECP2, ACSL4, IL1RAPL1, ARX
2mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance10.6
3ppm-x syndrome10.5
4mental retardation, x-linked, syndromic, raymond type10.5
5mental retardation, x-linked, syndromic, nascimento type10.5
6mental retardation, x-linked, syndromic, turner type10.5
7snyder-robinson syndrome10.4
8christianson syndrome10.4
9dandy-walker malformation with mental retardation basal ganglia disease and seizures10.4
10fragile xe syndrome10.4
11lujan fryns syndrome10.4
12mental retardation, x-linked, with growth hormone deficiency10.4
13mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor10.4
14mental retardation, x-linked, syndromic, martin-probst type10.4
15mental retardation, x-linked, syndromic 1510.4
16mental retardation, x-linked, with isolated growth hormone deficiency10.4
17alpha-thalassemia x-linked intellectual disability syndrome10.3
18hyde forster mccarthy berry syndrome10.3
19mental retardation x-linked borderline maoa metabolism anomaly10.3
20mental retardation x-linked dysmorphism10.3
21mental retardation x-linked, south african type10.3
22miles-carpenter x-linked mental retardation syndrome10.3
23partington x-linked mental retardation syndrome10.3
24prieto x-linked mental retardation syndrome10.3
25renpenning syndrome 110.3
26wilson-turner x-linked mental retardation syndrome10.3
27x-linked creatine deficiency10.3
28x-linked mental retardation 2110.3
29mental retardation, x-linked 4910.3
30mental retardation, x-linked 2910.3
31mental retardation, x-linked 29 and others10.3
32mental retardation, x-linked, syndromic 1710.3
33mental retardation, x-linked, syndromic, hedera type10.3
34mental retardation, x-linked 9910.3
35mental retardation, x-linked 9210.3
36mental retardation, x-linked 5010.3
37mental retardation, x-linked 9610.3
38mental retardation, x-linked 17/31, microduplication10.3
39mental retardation, x-linked, syndromic 910.3
40mental retardation, x-linked 9810.3
41mental retardation, x-linked syndromic, abidi type10.3
42mental retardation, x-linked 9710.3
43mental retardation, x-linked, syndromic, chudley-schwartz type10.3
44mental retardation, x-linked 5310.3
45mental retardation, x-linked 30/4710.3
46mental retardation, x-linked 2310.3
47mental retardation, x-linked, with short stature10.3
48mental retardation, x-linked 4210.3
49mental retardation, x-linked syndromic, shashi type10.3
50mental retardation, x-linked, syndromic 3210.3

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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47OMIM
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Clinical features from OMIM:

300495

Drugs & Therapeutics for Mental Retardation, X-Linked

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42NIH Clinical Center, 6ClinicalTrials
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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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52PubMed
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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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Expression for genes affiliated with Mental Retardation, X-Linked

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2BioGPS, 15Gene Expression Omnibus DataSets
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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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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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16Gene Ontology
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Cellular components related to Mental Retardation, X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.7UPF3B, IL1RAPL1, ACSL4, FTSJ1, PAK3, HCFC1

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

idNameGO IDScoreTop Affiliating Genes
1dendrite developmentGO:0163589.8MECP2, PAK3

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

idNameGO IDScoreTop Affiliating Genes
1mRNA bindingGO:0037299.6UPF3B, MECP2
2chromatin bindingGO:0036829.2ARX, MECP2, HCFC1
3sequence-specific DNA binding transcription factor activityGO:0037008.7ARX, ZNF81, MECP2, HCFC1

Products for genes affiliated with Mental Retardation, X-Linked

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Mental Retardation, X-Linked

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet