MCID: MNT063
MIFTS: 28

Mental Retardation, X-Linked malady

Neuronal category

Summaries for Mental Retardation, X-Linked

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 17/31, microduplication. An important gene associated with Mental Retardation, X-Linked is ZNF81 (zinc finger protein 81), and among its related pathways is Rho GTPase cycle.

Description from OMIM:47 300495

Aliases & Classifications for Mental Retardation, X-Linked

Sources:
47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

mental retardation, x-linked 47


Related Diseases for Mental Retardation, X-Linked

Sources:
17GeneCards, 18GeneDecks
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Diseases in the mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance family:

x-linked mental retardation 21 mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor
mental retardation, x-linked mental retardation, x-linked 49
mental retardation, x-linked 29 mental retardation, x-linked 50
mental retardation, x-linked 96 mental retardation, x-linked 92
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, with short stature
mental retardation, x-linked 42 mental retardation, x-linked 3

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation31.1PAK3, RPS6KA3, HSD17B10, OPHN1, ARX, ARHGEF6
2mental retardation, x-linked 17/31, microduplication30.4MRX17, MRX31, HSD17B10
3mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance10.6
4ppm-x syndrome10.5
5mental retardation, x-linked, syndromic, raymond type10.5
6mental retardation, x-linked, syndromic, nascimento type10.5
7mental retardation, x-linked, syndromic, turner type10.5
8snyder-robinson syndrome10.4
9christianson syndrome10.4
10lujan fryns syndrome10.4
11mental retardation, x-linked, with growth hormone deficiency10.4
12mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor10.4
13mental retardation, x-linked, syndromic, martin-probst type10.4
14mental retardation, x-linked syndromic, fried 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
18x-linked creatine deficiency10.3
19dandy-walker malformation with mental retardation basal ganglia disease and seizures10.3
20hyde forster mccarthy berry syndrome10.3
21miles-carpenter x-linked mental retardation syndrome10.3
22mental retardation x-linked borderline maoa metabolism anomaly10.3
23mental retardation x-linked dysmorphism10.3
24mental retardation x-linked, south african type10.3
25renpenning syndrome 110.3
26prieto x-linked mental retardation syndrome10.3
27partington x-linked mental retardation syndrome10.3
28wilson-turner x-linked mental retardation syndrome10.3
29x-linked mental retardation 2110.3
30mental retardation, x-linked 4910.3
31mental retardation, x-linked 2910.3
32mental retardation, x-linked 29 and others10.3
33mental retardation, x-linked, syndromic 1710.3
34mental retardation, x-linked, syndromic, hedera type10.3
35mental retardation, x-linked 5010.3
36mental retardation, x-linked 9610.3
37mental retardation, x-linked 9210.3
38mental retardation, x-linked, syndromic 910.3
39mental retardation, x-linked 9810.3
40mental retardation, x-linked syndromic, abidi type10.3
41mental retardation, x-linked 9710.3
42mental retardation, x-linked, syndromic, chudley-schwartz type10.3
43mental retardation, x-linked 5310.3
44mental retardation, x-linked 30/4710.3
45mental retardation, x-linked 2310.3
46mental retardation, x-linked, with short stature10.3
47mental retardation, x-linked 4210.3
48mental retardation, x-linked syndromic, shashi type10.3
49mental retardation, x-linked, fraxe 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

Clinical Features for Mental Retardation, X-Linked

Sources:
47OMIM
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Clinical features from OMIM:

300495

Drugs & Therapeutics for Mental Retardation, X-Linked

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mental Retardation, X-Linked

Drug clinical trials:

Search ClinicalTrials for Mental Retardation, X-Linked

Search NIH Clinical Center for Mental Retardation, X-Linked

Search CenterWatch for Mental Retardation, X-Linked

Genetic Tests for Mental Retardation, X-Linked

Anatomical Context for Mental Retardation, X-Linked

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

Sources:
28inGenious Targeting Laboratory
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Publications for Mental Retardation, X-Linked

Sources:
51PubMed
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Articles related to Mental Retardation, X-Linked:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation. (23791652)
2013
2
Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. (20082459)
2010
3
Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26. (18302774)
2008
4
A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. (17369115)
2007
5
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. (16969374)
2007
6
X-linked mental retardation, short stature, microcephaly and hypogonadism maps to Xp22.1-p21.3 in a Belgian family. (16053905)
2005
7
Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. (15733277)
2005
8
A locus for nonspecific X-linked mental retardation mapped to a 22.3 cM region of Xp11.3-q22.3. (15326629)
2004
9
A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the alpha 4 gene at Xq13. (14556245)
2003
10
Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation. (12673650)
2003
11
Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3. (12673656)
2003
12
A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33. (12949971)
2003
13
Syndromic form of X-linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22. (12599187)
2003
14
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. (12210308)
2002
15
Physical and transcript map of a 2-Mb region in Xp22.1 containing candidate genes for X-linked mental retardation and short stature. (11863356)
2002
16
Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. (11782983)
2002
17
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. (11898126)
2002
18
Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2. (11477616)
2001
19
Mapping of a gene for nonspecific X-linked mental retardation (MRX 75) to Xq24-q26. (10946355)
2000
20
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family. (11050621)
2000
21
Narrowing the map of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature at Xq12-q21.31. (10797443)
2000
22
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. (10232754)
1999
23
X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3. (10398231)
1999
24
Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2. (10398241)
1999
25
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. (10528855)
1999
26
X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. (10398235)
1999
27
X-linked mental retardation with isolated growth hormone deficiency is mapped to Xq22-Xq27.2 in one family. (9508246)
1998
28
A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28. (9222958)
1997
29
Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22. (9222959)
1997
30
Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24. (9332663)
1997
31
Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). (9415477)
1997
32
A gene for dominant nonspecific X-linked mental retardation is located in Xq28. (9106537)
1997
33
Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24. (8852668)
1996
34
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1. (8826458)
1996
35
New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3. (8826447)
1996
36
X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. (8826448)
1996
37
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation. (8826461)
1996
38
Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). (8826457)
1996
39
Localization of two X-linked mental retardation (XLMR) genes to Xp: MRX37 gene at Xp22.31-p22.32 and a putative MRX gene on Xp22.11-p22.2. (8826456)
1996
40
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. (8826463)
1996
41
Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3. (7726242)
1995
42
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. (7943043)
1994
43
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. (8230164)
1993
44
Linkage to Xq28 in a family with nonspecific X-linked mental retardation. (1362558)
1992
45
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. (1415255)
1992
46
MRX8: an X-linked mental retardation condition with linkage to Xq21. (1605227)
1992
47
Fragile X expression and X inactivation. II. The fragile site at Xq27.3 has a basic function in the pathogenesis of fragile X-linked mental retardation. (1715307)
1991
48
Unique X-linked mental retardation syndrome with fingertip arches and contractures linked to Xq21.31. (2018061)
1991
49
A non-syndromal form of X-linked mental retardation (XLMR) is linked to DXS14. (3177466)
1988
50
Familial X-linked ichthyosis, steroid sulfatase deficiency, mental retardation, and nullisomy for Xp223-pter. (3864397)
1985

Genetic Variations for Mental Retardation, X-Linked

Expression for genes affiliated with Mental Retardation, X-Linked

Sources:
1BioGPS, 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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54Reactome
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Pathways related to Mental Retardation, X-Linked according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.5GDI1, ARHGEF6, OPHN1

Compounds for genes affiliated with Mental Retardation, X-Linked

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

Sources:
16Gene Ontology
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Biological processes related to Mental Retardation, X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendrite developmentGO:01635810.5PAK3, MECP2
2regulation of small GTPase mediated signal transductionGO:05105610.2GDI1, ARHGEF6, OPHN1

Products for genes affiliated with Mental Retardation, X-Linked

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Sources for Mental Retardation, X-Linked

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet