MCID: NNS032
MIFTS: 25

Non-Syndromic X-Linked Intellectual Disability

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Non-Syndromic X-Linked Intellectual Disability

MalaCards integrated aliases for Non-Syndromic X-Linked Intellectual Disability:

Name: Non-Syndromic X-Linked Intellectual Disability 12 30 6 15
Non-Specific X-Linked Mental Retardation 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050776

Summaries for Non-Syndromic X-Linked Intellectual Disability

Disease Ontology : 12 A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.

MalaCards based summary : Non-Syndromic X-Linked Intellectual Disability, also known as non-specific x-linked mental retardation, is related to syndromic x-linked intellectual disability and mental retardation, x-linked, syndromic 13. An important gene associated with Non-Syndromic X-Linked Intellectual Disability is RLIM (Ring Finger Protein, LIM Domain Interacting), and among its related pathways/superpathways is NgR-p75(NTR)-Mediated Signaling. Affiliated tissues include eye and testes.

Related Diseases for Non-Syndromic X-Linked Intellectual Disability

Graphical network of the top 20 diseases related to Non-Syndromic X-Linked Intellectual Disability:



Diseases related to Non-Syndromic X-Linked Intellectual Disability

Symptoms & Phenotypes for Non-Syndromic X-Linked Intellectual Disability

Drugs & Therapeutics for Non-Syndromic X-Linked Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Non-Syndromic X-Linked Intellectual Disability

Genetic Tests for Non-Syndromic X-Linked Intellectual Disability

Genetic tests related to Non-Syndromic X-Linked Intellectual Disability:

# Genetic test Affiliating Genes
1 Non-Syndromic X-Linked Intellectual Disability 30 NEXMIF

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability

MalaCards organs/tissues related to Non-Syndromic X-Linked Intellectual Disability:

42
Eye, Testes

Publications for Non-Syndromic X-Linked Intellectual Disability

Articles related to Non-Syndromic X-Linked Intellectual Disability:

(show all 29)
# Title Authors Year
1
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family. ( 28863211 )
2017
2
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. ( 28973667 )
2017
3
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. ( 22511892 )
2012
4
Fragile X and X-linked intellectual disability: four decades of discovery. ( 22482801 )
2012
5
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. ( 21956720 )
2011
6
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. ( 21686261 )
2010
7
Familial deletion within NLGN4 associated with autism and Tourette syndrome. ( 18231125 )
2008
8
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. ( 14963808 )
2004
9
Cognitive and behavioral characteristics in 4 affected males of a family with non-specific X-linked mental retardation and TM4 SF2-gene mutation. ( 12150222 )
2002
10
Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2. ( 11477616 )
2001
11
Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation. ( 10818214 )
2000
12
MECP2 mutation in male patients with non-specific X-linked mental retardation. ( 11007980 )
2000
13
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects. ( 11246464 )
2000
14
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11. ( 9599645 )
1998
15
Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26. ( 9783701 )
1998
16
Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24. ( 8852668 )
1996
17
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). ( 8826460 )
1996
18
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation. ( 8826461 )
1996
19
Pericentromeric genes for non-specific X-linked mental retardation (MRX). ( 7943039 )
1994
20
Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited. ( 7943041 )
1994
21
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. ( 7943043 )
1994
22
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. ( 8230164 )
1993
23
Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. ( 1357179 )
1992
24
Localization of non-specific X-linked mental retardation genes. ( 1605217 )
1992
25
Localisation of the MRX3 gene for non-specific X linked mental retardation. ( 1870093 )
1991
26
Non-specific X linked mental retardation. ( 1870094 )
1991
27
Gene for non-specific X-linked mental retardation maps in the pericentromeric region. ( 2018062 )
1991
28
Non-specific X-linked mental retardation with fragile X chromosome: somatic features, cytogenetic diagnosis and elements for genetic counselling. ( 6668169 )
1983
29
Non-specific X-linked mental retardation: background, types, diagnosis and prevalence. ( 6763078 )
1982

Variations for Non-Syndromic X-Linked Intellectual Disability

ClinVar genetic disease variations for Non-Syndromic X-Linked Intellectual Disability:

6 (show top 50) (show all 723)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF41 NM_153380.3(ZNF41): c.332C> T (p.Pro111Leu) single nucleotide variant Likely benign rs104894955 GRCh37 Chromosome X, 47308837: 47308837
2 ZNF41 NM_153380.3(ZNF41): c.332C> T (p.Pro111Leu) single nucleotide variant Likely benign rs104894955 GRCh38 Chromosome X, 47449438: 47449438
3 NLGN4X NM_181332.2(NLGN4X): c.1254_1255del (p.Glu418Aspfs) deletion Pathogenic,risk factor GRCh37 Chromosome X, 5821464: 5821465
4 NLGN4X NM_181332.2(NLGN4X): c.1254_1255del (p.Glu418Aspfs) deletion Pathogenic,risk factor GRCh38 Chromosome X, 5903423: 5903424
5 NLGN4X nsv513783 deletion Pathogenic,risk factor
6 ZNF674 NM_001039891.2(ZNF674): c.707A> G (p.Lys236Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201621696 GRCh37 Chromosome X, 46360317: 46360317
7 ZNF674 NM_001039891.2(ZNF674): c.707A> G (p.Lys236Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201621696 GRCh38 Chromosome X, 46500882: 46500882
8 ZNF81 NM_007137.3(ZNF81): c.181+8C> T single nucleotide variant Benign rs11091216 GRCh37 Chromosome X, 47747532: 47747532
9 ZNF81 NM_007137.3(ZNF81): c.181+8C> T single nucleotide variant Benign rs11091216 GRCh38 Chromosome X, 47888133: 47888133
10 BRWD3 NM_153252.4(BRWD3): c.813+10G> C single nucleotide variant Benign/Likely benign rs55824836 GRCh37 Chromosome X, 79999521: 79999521
11 BRWD3 NM_153252.4(BRWD3): c.813+10G> C single nucleotide variant Benign/Likely benign rs55824836 GRCh38 Chromosome X, 80744022: 80744022
12 ZNF41 NM_153380.3(ZNF41): c.945T> G (p.Asp315Glu) single nucleotide variant Benign/Likely benign rs2498170 GRCh37 Chromosome X, 47308224: 47308224
13 ZNF41 NM_153380.3(ZNF41): c.945T> G (p.Asp315Glu) single nucleotide variant Benign/Likely benign rs2498170 GRCh38 Chromosome X, 47448825: 47448825
14 ARHGEF6 NM_004840.2(ARHGEF6): c.362G> A (p.Arg121His) single nucleotide variant Benign/Likely benign rs35106300 GRCh37 Chromosome X, 135827479: 135827479
15 ARHGEF6 NM_004840.2(ARHGEF6): c.362G> A (p.Arg121His) single nucleotide variant Benign/Likely benign rs35106300 GRCh38 Chromosome X, 136745320: 136745320
16 ARHGEF6 NM_004840.2(ARHGEF6): c.2007C> T (p.Ser669=) single nucleotide variant Benign rs12008084 GRCh37 Chromosome X, 135757194: 135757194
17 ARHGEF6 NM_004840.2(ARHGEF6): c.2007C> T (p.Ser669=) single nucleotide variant Benign rs12008084 GRCh38 Chromosome X, 136675035: 136675035
18 BRWD3 NM_153252.4(BRWD3): c.5100T> C (p.Gly1700=) single nucleotide variant Benign/Likely benign rs140852252 GRCh37 Chromosome X, 79932417: 79932417
19 BRWD3 NM_153252.4(BRWD3): c.5100T> C (p.Gly1700=) single nucleotide variant Benign/Likely benign rs140852252 GRCh38 Chromosome X, 80676918: 80676918
20 ZNF41 NM_153380.3(ZNF41): c.374T> G (p.Ile125Arg) single nucleotide variant Benign rs17147624 GRCh37 Chromosome X, 47308795: 47308795
21 ZNF41 NM_153380.3(ZNF41): c.374T> G (p.Ile125Arg) single nucleotide variant Benign rs17147624 GRCh38 Chromosome X, 47449396: 47449396
22 ZNF41 NM_153380.3(ZNF41): c.660T> G (p.Asn220Lys) single nucleotide variant Benign rs34301930 GRCh37 Chromosome X, 47308509: 47308509
23 ZNF41 NM_153380.3(ZNF41): c.660T> G (p.Asn220Lys) single nucleotide variant Benign rs34301930 GRCh38 Chromosome X, 47449110: 47449110
24 ZNF674 NM_001039891.2(ZNF674): c.1028C> T (p.Thr343Met) single nucleotide variant Benign rs61730637 GRCh37 Chromosome X, 46359996: 46359996
25 ZNF674 NM_001039891.2(ZNF674): c.1028C> T (p.Thr343Met) single nucleotide variant Benign rs61730637 GRCh38 Chromosome X, 46500561: 46500561
26 ZNF674 NM_001039891.2(ZNF674): c.601C> T (p.Arg201Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182004761 GRCh37 Chromosome X, 46360423: 46360423
27 ZNF674 NM_001039891.2(ZNF674): c.601C> T (p.Arg201Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182004761 GRCh38 Chromosome X, 46500988: 46500988
28 ZNF711 NM_021998.4(ZNF711): c.-27+5C> T single nucleotide variant Benign rs41311563 GRCh37 Chromosome X, 84501033: 84501033
29 ZNF711 NM_021998.4(ZNF711): c.-27+5C> T single nucleotide variant Benign rs41311563 GRCh38 Chromosome X, 85246027: 85246027
30 ZNF711 NM_021998.4(ZNF711): c.798A> G (p.Thr266=) single nucleotide variant Benign rs72549428 GRCh37 Chromosome X, 84520143: 84520143
31 ZNF711 NM_021998.4(ZNF711): c.798A> G (p.Thr266=) single nucleotide variant Benign rs72549428 GRCh38 Chromosome X, 85265137: 85265137
32 ZNF81 NM_007137.3(ZNF81): c.18C> T (p.Asp6=) single nucleotide variant Benign rs145478020 GRCh37 Chromosome X, 47705684: 47705684
33 ZNF81 NM_007137.3(ZNF81): c.18C> T (p.Asp6=) single nucleotide variant Benign rs145478020 GRCh38 Chromosome X, 47846285: 47846285
34 ZNF81 NM_007137.3(ZNF81): c.1911G> A (p.Pro637=) single nucleotide variant Benign rs663514 GRCh37 Chromosome X, 47775956: 47775956
35 ZNF81 NM_007137.3(ZNF81): c.1911G> A (p.Pro637=) single nucleotide variant Benign rs663514 GRCh38 Chromosome X, 47916557: 47916557
36 ZNF81 NM_007137.3(ZNF81): c.350G> T (p.Gly117Val) single nucleotide variant Benign rs17147793 GRCh37 Chromosome X, 47774395: 47774395
37 ZNF81 NM_007137.3(ZNF81): c.350G> T (p.Gly117Val) single nucleotide variant Benign rs17147793 GRCh38 Chromosome X, 47914996: 47914996
38 ZNF81 NM_007137.3(ZNF81): c.470A> G (p.Asn157Ser) single nucleotide variant Benign/Likely benign rs41312157 GRCh37 Chromosome X, 47774515: 47774515
39 ZNF81 NM_007137.3(ZNF81): c.470A> G (p.Asn157Ser) single nucleotide variant Benign/Likely benign rs41312157 GRCh38 Chromosome X, 47915116: 47915116
40 ZNF81 NM_007137.3(ZNF81): c.554C> T (p.Ser185Leu) single nucleotide variant Benign/Likely benign rs186251256 GRCh37 Chromosome X, 47774599: 47774599
41 ZNF81 NM_007137.3(ZNF81): c.554C> T (p.Ser185Leu) single nucleotide variant Benign/Likely benign rs186251256 GRCh38 Chromosome X, 47915200: 47915200
42 ZNF81 NM_007137.3(ZNF81): c.638C> A (p.Ala213Glu) single nucleotide variant Benign rs537825 GRCh37 Chromosome X, 47774683: 47774683
43 ZNF81 NM_007137.3(ZNF81): c.638C> A (p.Ala213Glu) single nucleotide variant Benign rs537825 GRCh38 Chromosome X, 47915284: 47915284
44 ZNF81 NM_007137.3(ZNF81): c.8C> T (p.Ala3Val) single nucleotide variant Benign/Likely benign rs183846665 GRCh37 Chromosome X, 47705674: 47705674
45 ZNF81 NM_007137.3(ZNF81): c.8C> T (p.Ala3Val) single nucleotide variant Benign/Likely benign rs183846665 GRCh38 Chromosome X, 47846275: 47846275
46 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh37 Chromosome X, 73812083: 73812083
47 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh38 Chromosome X, 74592248: 74592248
48 BRWD3 NM_153252.4(BRWD3): c.33G> A (p.Glu11=) single nucleotide variant Benign/Likely benign rs139071237 GRCh37 Chromosome X, 80064802: 80064802
49 BRWD3 NM_153252.4(BRWD3): c.33G> A (p.Glu11=) single nucleotide variant Benign/Likely benign rs139071237 GRCh38 Chromosome X, 80809303: 80809303
50 RAB39B NM_171998.3(RAB39B): c.543A> G (p.Thr181=) single nucleotide variant Benign/Likely benign rs369970931 GRCh37 Chromosome X, 154490187: 154490187

Expression for Non-Syndromic X-Linked Intellectual Disability

Search GEO for disease gene expression data for Non-Syndromic X-Linked Intellectual Disability.

Pathways for Non-Syndromic X-Linked Intellectual Disability

Pathways related to Non-Syndromic X-Linked Intellectual Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.29 ARHGEF6 PAK3

GO Terms for Non-Syndromic X-Linked Intellectual Disability

Cellular components related to Non-Syndromic X-Linked Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 postsynaptic membrane GO:0045211 9.13 CNKSR2 IL1RAPL1 NLGN4X
2 postsynaptic density GO:0014069 8.92 CNKSR2 NLGN4X PAK3 SYN1

Biological processes related to Non-Syndromic X-Linked Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of neuron projection development GO:0010975 9.26 IL1RAPL1 PAK3
2 dendritic spine development GO:0060996 9.16 ACSL4 PAK3
3 presynaptic membrane assembly GO:0097105 8.96 IL1RAPL1 NLGN4X
4 synapse organization GO:0050808 8.92 NLGN4X PAK3 RAB39B SYN1

Sources for Non-Syndromic X-Linked Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....