MCID: NNS032
MIFTS: 20

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.

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

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 723)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRWD3 NM_153252.4(BRWD3): c.33G> A (p.Glu11=) single nucleotide variant Benign/Likely benign rs139071237 GRCh37 Chromosome X, 80064802: 80064802
2 BRWD3 NM_153252.4(BRWD3): c.33G> A (p.Glu11=) single nucleotide variant Benign/Likely benign rs139071237 GRCh38 Chromosome X, 80809303: 80809303
3 RAB39B NM_171998.3(RAB39B): c.543A> G (p.Thr181=) single nucleotide variant Benign/Likely benign rs369970931 GRCh37 Chromosome X, 154490187: 154490187
4 RAB39B NM_171998.3(RAB39B): c.543A> G (p.Thr181=) single nucleotide variant Benign/Likely benign rs369970931 GRCh38 Chromosome X, 155260902: 155260902
5 SYP NM_003179.2(SYP): c.687C> T (p.Ala229=) single nucleotide variant Conflicting interpretations of pathogenicity rs201427270 GRCh37 Chromosome X, 49048149: 49048149
6 SYP NM_003179.2(SYP): c.687C> T (p.Ala229=) single nucleotide variant Conflicting interpretations of pathogenicity rs201427270 GRCh38 Chromosome X, 49191692: 49191692
7 PAK3 NM_002578.4(PAK3): c.531G> A (p.Glu177=) single nucleotide variant Benign/Likely benign rs56270341 GRCh38 Chromosome X, 111162977: 111162977
8 PAK3 NM_002578.4(PAK3): c.531G> A (p.Glu177=) single nucleotide variant Benign/Likely benign rs56270341 GRCh37 Chromosome X, 110406205: 110406205
9 UPF3B NM_080632.2(UPF3B): c.1121G> A (p.Arg374His) single nucleotide variant Conflicting interpretations of pathogenicity rs143538947 GRCh37 Chromosome X, 118971901: 118971901
10 UPF3B NM_080632.2(UPF3B): c.1121G> A (p.Arg374His) single nucleotide variant Conflicting interpretations of pathogenicity rs143538947 GRCh38 Chromosome X, 119837938: 119837938
11 ARHGEF6 NM_004840.2(ARHGEF6): c.1190C> G (p.Thr397Ser) single nucleotide variant Likely benign rs532348958 GRCh37 Chromosome X, 135770146: 135770146
12 ARHGEF6 NM_004840.2(ARHGEF6): c.1190C> G (p.Thr397Ser) single nucleotide variant Likely benign rs532348958 GRCh38 Chromosome X, 136687987: 136687987
13 ARHGEF6 NM_004840.2(ARHGEF6): c.942C> T (p.His314=) single nucleotide variant Uncertain significance rs34274521 GRCh37 Chromosome X, 135789171: 135789171
14 ARHGEF6 NM_004840.2(ARHGEF6): c.942C> T (p.His314=) single nucleotide variant Uncertain significance rs34274521 GRCh38 Chromosome X, 136707012: 136707012
15 ARHGEF6 NM_004840.2(ARHGEF6): c.685G> A (p.Val229Ile) single nucleotide variant Likely benign rs75329154 GRCh37 Chromosome X, 135814308: 135814308
16 ARHGEF6 NM_004840.2(ARHGEF6): c.685G> A (p.Val229Ile) single nucleotide variant Likely benign rs75329154 GRCh38 Chromosome X, 136732149: 136732149
17 IL1RAPL1 NM_014271.3(IL1RAPL1): c.2067C> G (p.Thr689=) single nucleotide variant Conflicting interpretations of pathogenicity rs140330609 GRCh37 Chromosome X, 29973913: 29973913
18 IL1RAPL1 NM_014271.3(IL1RAPL1): c.2067C> G (p.Thr689=) single nucleotide variant Conflicting interpretations of pathogenicity rs140330609 GRCh38 Chromosome X, 29955796: 29955796
19 ZNF81 NM_007137.3(ZNF81): c.417A> G (p.Ile139Met) single nucleotide variant Conflicting interpretations of pathogenicity rs189835360 GRCh37 Chromosome X, 47774462: 47774462
20 ZNF81 NM_007137.3(ZNF81): c.417A> G (p.Ile139Met) single nucleotide variant Conflicting interpretations of pathogenicity rs189835360 GRCh38 Chromosome X, 47915063: 47915063
21 ZNF81 NM_007137.3(ZNF81): c.1495A> G (p.Ile499Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182239885 GRCh37 Chromosome X, 47775540: 47775540
22 ZNF81 NM_007137.3(ZNF81): c.1495A> G (p.Ile499Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182239885 GRCh38 Chromosome X, 47916141: 47916141
23 BRWD3 NM_153252.4(BRWD3): c.597A> C (p.Ser199=) single nucleotide variant Benign/Likely benign rs142085721 GRCh38 Chromosome X, 80744248: 80744248
24 BRWD3 NM_153252.4(BRWD3): c.597A> C (p.Ser199=) single nucleotide variant Benign/Likely benign rs142085721 GRCh37 Chromosome X, 79999747: 79999747
25 ZNF41 NM_153380.3(ZNF41): c.332C> T (p.Pro111Leu) single nucleotide variant Likely benign rs104894955 GRCh37 Chromosome X, 47308837: 47308837
26 ZNF41 NM_153380.3(ZNF41): c.332C> T (p.Pro111Leu) single nucleotide variant Likely benign rs104894955 GRCh38 Chromosome X, 47449438: 47449438
27 NLGN4X NM_181332.2(NLGN4X): c.1254_1255del (p.Glu418Aspfs) deletion Pathogenic,risk factor GRCh37 Chromosome X, 5821464: 5821465
28 NLGN4X NM_181332.2(NLGN4X): c.1254_1255del (p.Glu418Aspfs) deletion Pathogenic,risk factor GRCh38 Chromosome X, 5903423: 5903424
29 NLGN4X nsv513783 deletion Pathogenic,risk factor
30 ZNF674 NM_001039891.2(ZNF674): c.707A> G (p.Lys236Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201621696 GRCh37 Chromosome X, 46360317: 46360317
31 ZNF674 NM_001039891.2(ZNF674): c.707A> G (p.Lys236Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201621696 GRCh38 Chromosome X, 46500882: 46500882
32 ZNF81 NM_007137.3(ZNF81): c.181+8C> T single nucleotide variant Benign rs11091216 GRCh37 Chromosome X, 47747532: 47747532
33 ZNF81 NM_007137.3(ZNF81): c.181+8C> T single nucleotide variant Benign rs11091216 GRCh38 Chromosome X, 47888133: 47888133
34 BRWD3 NM_153252.4(BRWD3): c.813+10G> C single nucleotide variant Benign/Likely benign rs55824836 GRCh37 Chromosome X, 79999521: 79999521
35 BRWD3 NM_153252.4(BRWD3): c.813+10G> C single nucleotide variant Benign/Likely benign rs55824836 GRCh38 Chromosome X, 80744022: 80744022
36 ZNF41 NM_153380.3(ZNF41): c.945T> G (p.Asp315Glu) single nucleotide variant Benign/Likely benign rs2498170 GRCh37 Chromosome X, 47308224: 47308224
37 ZNF41 NM_153380.3(ZNF41): c.945T> G (p.Asp315Glu) single nucleotide variant Benign/Likely benign rs2498170 GRCh38 Chromosome X, 47448825: 47448825
38 ARHGEF6 NM_004840.2(ARHGEF6): c.362G> A (p.Arg121His) single nucleotide variant Benign/Likely benign rs35106300 GRCh37 Chromosome X, 135827479: 135827479
39 ARHGEF6 NM_004840.2(ARHGEF6): c.362G> A (p.Arg121His) single nucleotide variant Benign/Likely benign rs35106300 GRCh38 Chromosome X, 136745320: 136745320
40 ARHGEF6 NM_004840.2(ARHGEF6): c.2007C> T (p.Ser669=) single nucleotide variant Benign rs12008084 GRCh37 Chromosome X, 135757194: 135757194
41 ARHGEF6 NM_004840.2(ARHGEF6): c.2007C> T (p.Ser669=) single nucleotide variant Benign rs12008084 GRCh38 Chromosome X, 136675035: 136675035
42 BRWD3 NM_153252.4(BRWD3): c.5100T> C (p.Gly1700=) single nucleotide variant Benign/Likely benign rs140852252 GRCh37 Chromosome X, 79932417: 79932417
43 BRWD3 NM_153252.4(BRWD3): c.5100T> C (p.Gly1700=) single nucleotide variant Benign/Likely benign rs140852252 GRCh38 Chromosome X, 80676918: 80676918
44 ZNF41 NM_153380.3(ZNF41): c.374T> G (p.Ile125Arg) single nucleotide variant Benign rs17147624 GRCh37 Chromosome X, 47308795: 47308795
45 ZNF41 NM_153380.3(ZNF41): c.374T> G (p.Ile125Arg) single nucleotide variant Benign rs17147624 GRCh38 Chromosome X, 47449396: 47449396
46 ZNF41 NM_153380.3(ZNF41): c.660T> G (p.Asn220Lys) single nucleotide variant Benign rs34301930 GRCh37 Chromosome X, 47308509: 47308509
47 ZNF41 NM_153380.3(ZNF41): c.660T> G (p.Asn220Lys) single nucleotide variant Benign rs34301930 GRCh38 Chromosome X, 47449110: 47449110
48 ZNF674 NM_001039891.2(ZNF674): c.1028C> T (p.Thr343Met) single nucleotide variant Benign rs61730637 GRCh37 Chromosome X, 46359996: 46359996
49 ZNF674 NM_001039891.2(ZNF674): c.1028C> T (p.Thr343Met) single nucleotide variant Benign rs61730637 GRCh38 Chromosome X, 46500561: 46500561
50 ZNF674 NM_001039891.2(ZNF674): c.601C> T (p.Arg201Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182004761 GRCh37 Chromosome X, 46360423: 46360423

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....