MCID: NNS032
MIFTS: 21

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 29 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.

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 29 NEXMIF

Anatomical Context for Non-Syndromic X-Linked Intellectual Disability

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

41
Eye

Publications for Non-Syndromic X-Linked Intellectual Disability

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

# 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
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. ( 21686261 )
2010

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 722)
# 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 NLGN4, 2-BP DEL, 1253AG deletion Pathogenic,risk factor
4 NLGN4X nsv513783 deletion Pathogenic,risk factor
5 ZNF674 NM_001039891.2(ZNF674): c.707A> G (p.Lys236Arg) single nucleotide variant Benign/Likely benign rs201621696 GRCh37 Chromosome X, 46360317: 46360317
6 ZNF674 NM_001039891.2(ZNF674): c.707A> G (p.Lys236Arg) single nucleotide variant Benign/Likely benign rs201621696 GRCh38 Chromosome X, 46500882: 46500882
7 ZNF81 NM_007137.3(ZNF81): c.181+8C> T single nucleotide variant Benign rs11091216 GRCh37 Chromosome X, 47747532: 47747532
8 ZNF81 NM_007137.3(ZNF81): c.181+8C> T single nucleotide variant Benign rs11091216 GRCh38 Chromosome X, 47888133: 47888133
9 BRWD3 NM_153252.4(BRWD3): c.813+10G> C single nucleotide variant Benign/Likely benign rs55824836 GRCh37 Chromosome X, 79999521: 79999521
10 BRWD3 NM_153252.4(BRWD3): c.813+10G> C single nucleotide variant Benign/Likely benign rs55824836 GRCh38 Chromosome X, 80744022: 80744022
11 ZNF41 NM_153380.3(ZNF41): c.945T> G (p.Asp315Glu) single nucleotide variant Benign/Likely benign rs2498170 GRCh37 Chromosome X, 47308224: 47308224
12 ZNF41 NM_153380.3(ZNF41): c.945T> G (p.Asp315Glu) single nucleotide variant Benign/Likely benign rs2498170 GRCh38 Chromosome X, 47448825: 47448825
13 ARHGEF6 NM_004840.2(ARHGEF6): c.362G> A (p.Arg121His) single nucleotide variant Benign/Likely benign rs35106300 GRCh37 Chromosome X, 135827479: 135827479
14 ARHGEF6 NM_004840.2(ARHGEF6): c.362G> A (p.Arg121His) single nucleotide variant Benign/Likely benign rs35106300 GRCh38 Chromosome X, 136745320: 136745320
15 ARHGEF6 NM_004840.2(ARHGEF6): c.2007C> T (p.Ser669=) single nucleotide variant Benign rs12008084 GRCh37 Chromosome X, 135757194: 135757194
16 ARHGEF6 NM_004840.2(ARHGEF6): c.2007C> T (p.Ser669=) single nucleotide variant Benign rs12008084 GRCh38 Chromosome X, 136675035: 136675035
17 BRWD3 NM_153252.4(BRWD3): c.5100T> C (p.Gly1700=) single nucleotide variant Likely benign rs140852252 GRCh37 Chromosome X, 79932417: 79932417
18 BRWD3 NM_153252.4(BRWD3): c.5100T> C (p.Gly1700=) single nucleotide variant Likely benign rs140852252 GRCh38 Chromosome X, 80676918: 80676918
19 ZNF41 NM_153380.3(ZNF41): c.374T> G (p.Ile125Arg) single nucleotide variant Benign rs17147624 GRCh37 Chromosome X, 47308795: 47308795
20 ZNF41 NM_153380.3(ZNF41): c.374T> G (p.Ile125Arg) single nucleotide variant Benign rs17147624 GRCh38 Chromosome X, 47449396: 47449396
21 ZNF41 NM_153380.3(ZNF41): c.660T> G (p.Asn220Lys) single nucleotide variant Benign rs34301930 GRCh37 Chromosome X, 47308509: 47308509
22 ZNF41 NM_153380.3(ZNF41): c.660T> G (p.Asn220Lys) single nucleotide variant Benign rs34301930 GRCh38 Chromosome X, 47449110: 47449110
23 ZNF674 NM_001039891.2(ZNF674): c.1028C> T (p.Thr343Met) single nucleotide variant Benign rs61730637 GRCh37 Chromosome X, 46359996: 46359996
24 ZNF674 NM_001039891.2(ZNF674): c.1028C> T (p.Thr343Met) single nucleotide variant Benign rs61730637 GRCh38 Chromosome X, 46500561: 46500561
25 ZNF674 NM_001039891.2(ZNF674): c.601C> T (p.Arg201Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182004761 GRCh37 Chromosome X, 46360423: 46360423
26 ZNF674 NM_001039891.2(ZNF674): c.601C> T (p.Arg201Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182004761 GRCh38 Chromosome X, 46500988: 46500988
27 ZNF711 NM_021998.4(ZNF711): c.-27+5C> T single nucleotide variant Benign rs41311563 GRCh37 Chromosome X, 84501033: 84501033
28 ZNF711 NM_021998.4(ZNF711): c.-27+5C> T single nucleotide variant Benign rs41311563 GRCh38 Chromosome X, 85246027: 85246027
29 ZNF711 NM_021998.4(ZNF711): c.798A> G (p.Thr266=) single nucleotide variant Benign rs72549428 GRCh37 Chromosome X, 84520143: 84520143
30 ZNF711 NM_021998.4(ZNF711): c.798A> G (p.Thr266=) single nucleotide variant Benign rs72549428 GRCh38 Chromosome X, 85265137: 85265137
31 ZNF81 NM_007137.3(ZNF81): c.18C> T (p.Asp6=) single nucleotide variant Benign rs145478020 GRCh37 Chromosome X, 47705684: 47705684
32 ZNF81 NM_007137.3(ZNF81): c.18C> T (p.Asp6=) single nucleotide variant Benign rs145478020 GRCh38 Chromosome X, 47846285: 47846285
33 ZNF81 NM_007137.3(ZNF81): c.1911G> A (p.Pro637=) single nucleotide variant Benign rs663514 GRCh37 Chromosome X, 47775956: 47775956
34 ZNF81 NM_007137.3(ZNF81): c.1911G> A (p.Pro637=) single nucleotide variant Benign rs663514 GRCh38 Chromosome X, 47916557: 47916557
35 ZNF81 NM_007137.3(ZNF81): c.350G> T (p.Gly117Val) single nucleotide variant Benign rs17147793 GRCh37 Chromosome X, 47774395: 47774395
36 ZNF81 NM_007137.3(ZNF81): c.350G> T (p.Gly117Val) single nucleotide variant Benign rs17147793 GRCh38 Chromosome X, 47914996: 47914996
37 ZNF81 NM_007137.3(ZNF81): c.470A> G (p.Asn157Ser) single nucleotide variant Benign/Likely benign rs41312157 GRCh37 Chromosome X, 47774515: 47774515
38 ZNF81 NM_007137.3(ZNF81): c.470A> G (p.Asn157Ser) single nucleotide variant Benign/Likely benign rs41312157 GRCh38 Chromosome X, 47915116: 47915116
39 ZNF81 NM_007137.3(ZNF81): c.554C> T (p.Ser185Leu) single nucleotide variant Benign/Likely benign rs186251256 GRCh37 Chromosome X, 47774599: 47774599
40 ZNF81 NM_007137.3(ZNF81): c.554C> T (p.Ser185Leu) single nucleotide variant Benign/Likely benign rs186251256 GRCh38 Chromosome X, 47915200: 47915200
41 ZNF81 NM_007137.3(ZNF81): c.638C> A (p.Ala213Glu) single nucleotide variant Benign rs537825 GRCh37 Chromosome X, 47774683: 47774683
42 ZNF81 NM_007137.3(ZNF81): c.638C> A (p.Ala213Glu) single nucleotide variant Benign rs537825 GRCh38 Chromosome X, 47915284: 47915284
43 ZNF81 NM_007137.3(ZNF81): c.8C> T (p.Ala3Val) single nucleotide variant Benign/Likely benign rs183846665 GRCh37 Chromosome X, 47705674: 47705674
44 ZNF81 NM_007137.3(ZNF81): c.8C> T (p.Ala3Val) single nucleotide variant Benign/Likely benign rs183846665 GRCh38 Chromosome X, 47846275: 47846275
45 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh37 Chromosome X, 73812083: 73812083
46 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh38 Chromosome X, 74592248: 74592248
47 BRWD3 NM_153252.4(BRWD3): c.33G> A (p.Glu11=) single nucleotide variant Benign/Likely benign rs139071237 GRCh37 Chromosome X, 80064802: 80064802
48 BRWD3 NM_153252.4(BRWD3): c.33G> A (p.Glu11=) single nucleotide variant Benign/Likely benign rs139071237 GRCh38 Chromosome X, 80809303: 80809303
49 RAB39B NM_171998.3(RAB39B): c.543A> G (p.Thr181=) single nucleotide variant Benign/Likely benign rs369970931 GRCh37 Chromosome X, 154490187: 154490187
50 RAB39B NM_171998.3(RAB39B): c.543A> G (p.Thr181=) single nucleotide variant Benign/Likely benign rs369970931 GRCh38 Chromosome X, 155260902: 155260902

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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