MCID: NNS032
MIFTS: 20

Non-Syndromic X-Linked Intellectual Disability

Categories: 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 alacrima, achalasia, and mental retardation syndrome and syndromic x-linked intellectual disability. An important gene associated with Non-Syndromic X-Linked Intellectual Disability is NEXMIF (Neurite Extension And Migration Factor), and among its related pathways/superpathways are Agrin Interactions at Neuromuscular Junction and 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 29 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 680)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLGN4X NLGN4, 2-BP DEL, 1253AG deletion Pathogenic,risk factor
2 NLGN4X nsv513783 deletion Pathogenic,risk factor
3 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh37 Chromosome X, 73812083: 73812083
4 RLIM NM_183353.2(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 GRCh38 Chromosome X, 74592248: 74592248
5 BRWD3 NM_153252.4(BRWD3): c.33G> A (p.Glu11=) single nucleotide variant Benign/Likely benign rs139071237 GRCh37 Chromosome X, 80064802: 80064802
6 BRWD3 NM_153252.4(BRWD3): c.33G> A (p.Glu11=) single nucleotide variant Benign/Likely benign rs139071237 GRCh38 Chromosome X, 80809303: 80809303
7 RAB39B NM_171998.3(RAB39B): c.543A> G (p.Thr181=) single nucleotide variant Benign/Likely benign rs369970931 GRCh37 Chromosome X, 154490187: 154490187
8 RAB39B NM_171998.3(RAB39B): c.543A> G (p.Thr181=) single nucleotide variant Benign/Likely benign rs369970931 GRCh38 Chromosome X, 155260902: 155260902
9 SYP NM_003179.2(SYP): c.687C> T (p.Ala229=) single nucleotide variant Conflicting interpretations of pathogenicity rs201427270 GRCh37 Chromosome X, 49048149: 49048149
10 SYP NM_003179.2(SYP): c.687C> T (p.Ala229=) single nucleotide variant Conflicting interpretations of pathogenicity rs201427270 GRCh38 Chromosome X, 49191692: 49191692
11 PAK3 NM_002578.4(PAK3): c.531G> A (p.Glu177=) single nucleotide variant Benign/Likely benign rs56270341 GRCh38 Chromosome X, 111162977: 111162977
12 PAK3 NM_002578.4(PAK3): c.531G> A (p.Glu177=) single nucleotide variant Benign/Likely benign rs56270341 GRCh37 Chromosome X, 110406205: 110406205
13 UPF3B NM_080632.2(UPF3B): c.1121G> A (p.Arg374His) single nucleotide variant Conflicting interpretations of pathogenicity rs143538947 GRCh37 Chromosome X, 118971901: 118971901
14 UPF3B NM_080632.2(UPF3B): c.1121G> A (p.Arg374His) single nucleotide variant Conflicting interpretations of pathogenicity rs143538947 GRCh38 Chromosome X, 119837938: 119837938
15 ARHGEF6 NM_004840.2(ARHGEF6): c.1190C> G (p.Thr397Ser) single nucleotide variant Likely benign rs532348958 GRCh37 Chromosome X, 135770146: 135770146
16 ARHGEF6 NM_004840.2(ARHGEF6): c.1190C> G (p.Thr397Ser) single nucleotide variant Likely benign rs532348958 GRCh38 Chromosome X, 136687987: 136687987
17 ARHGEF6 NM_004840.2(ARHGEF6): c.942C> T (p.His314=) single nucleotide variant Uncertain significance rs34274521 GRCh37 Chromosome X, 135789171: 135789171
18 ARHGEF6 NM_004840.2(ARHGEF6): c.942C> T (p.His314=) single nucleotide variant Uncertain significance rs34274521 GRCh38 Chromosome X, 136707012: 136707012
19 ARHGEF6 NM_004840.2(ARHGEF6): c.685G> A (p.Val229Ile) single nucleotide variant Likely benign rs75329154 GRCh37 Chromosome X, 135814308: 135814308
20 ARHGEF6 NM_004840.2(ARHGEF6): c.685G> A (p.Val229Ile) single nucleotide variant Likely benign rs75329154 GRCh38 Chromosome X, 136732149: 136732149
21 IL1RAPL1 NM_014271.3(IL1RAPL1): c.2067C> G (p.Thr689=) single nucleotide variant Conflicting interpretations of pathogenicity rs140330609 GRCh37 Chromosome X, 29973913: 29973913
22 IL1RAPL1 NM_014271.3(IL1RAPL1): c.2067C> G (p.Thr689=) single nucleotide variant Conflicting interpretations of pathogenicity rs140330609 GRCh38 Chromosome X, 29955796: 29955796
23 ZNF81 NM_007137.3(ZNF81): c.417A> G (p.Ile139Met) single nucleotide variant Conflicting interpretations of pathogenicity rs189835360 GRCh37 Chromosome X, 47774462: 47774462
24 ZNF81 NM_007137.3(ZNF81): c.417A> G (p.Ile139Met) single nucleotide variant Conflicting interpretations of pathogenicity rs189835360 GRCh38 Chromosome X, 47915063: 47915063
25 ZNF81 NM_007137.3(ZNF81): c.1495A> G (p.Ile499Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182239885 GRCh37 Chromosome X, 47775540: 47775540
26 ZNF81 NM_007137.3(ZNF81): c.1495A> G (p.Ile499Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182239885 GRCh38 Chromosome X, 47916141: 47916141
27 BRWD3 NM_153252.4(BRWD3): c.597A> C (p.Ser199=) single nucleotide variant Benign/Likely benign rs142085721 GRCh38 Chromosome X, 80744248: 80744248
28 BRWD3 NM_153252.4(BRWD3): c.597A> C (p.Ser199=) single nucleotide variant Benign/Likely benign rs142085721 GRCh37 Chromosome X, 79999747: 79999747
29 SYP NM_003179.2(SYP): c.868G> T (p.Gly290Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs376222680 GRCh37 Chromosome X, 49047968: 49047968
30 SYP NM_003179.2(SYP): c.868G> T (p.Gly290Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs376222680 GRCh38 Chromosome X, 49191511: 49191511
31 BRWD3 NM_153252.4(BRWD3): c.2325+5G> A single nucleotide variant Benign/Likely benign rs186391561 GRCh38 Chromosome X, 80716152: 80716152
32 BRWD3 NM_153252.4(BRWD3): c.2325+5G> A single nucleotide variant Benign/Likely benign rs186391561 GRCh37 Chromosome X, 79971651: 79971651
33 IL1RAPL1 NM_014271.3(IL1RAPL1): c.-19G> A single nucleotide variant Benign rs6526806 GRCh37 Chromosome X, 28807442: 28807442
34 IL1RAPL1 NM_014271.3(IL1RAPL1): c.-19G> A single nucleotide variant Benign rs6526806 GRCh38 Chromosome X, 28789325: 28789325
35 UPF3B NM_080632.2(UPF3B): c.*395G> A single nucleotide variant Benign rs2239962 GRCh37 Chromosome X, 118968446: 118968446
36 UPF3B NM_080632.2(UPF3B): c.*395G> A single nucleotide variant Benign rs2239962 GRCh38 Chromosome X, 119834483: 119834483
37 UPF3B NM_080632.2(UPF3B): c.*206A> G single nucleotide variant Uncertain significance rs1042421205 GRCh37 Chromosome X, 118968635: 118968635
38 UPF3B NM_080632.2(UPF3B): c.*206A> G single nucleotide variant Uncertain significance rs1042421205 GRCh38 Chromosome X, 119834672: 119834672
39 ARHGEF6 NM_004840.2(ARHGEF6): c.*2126G> A single nucleotide variant Uncertain significance rs1057515774 GRCh38 Chromosome X, 136665903: 136665903
40 ARHGEF6 NM_004840.2(ARHGEF6): c.*2126G> A single nucleotide variant Uncertain significance rs1057515774 GRCh37 Chromosome X, 135748062: 135748062
41 ARHGEF6 NM_004840.2(ARHGEF6): c.*2062T> C single nucleotide variant Likely benign rs142057050 GRCh38 Chromosome X, 136665967: 136665967
42 ARHGEF6 NM_004840.2(ARHGEF6): c.*2062T> C single nucleotide variant Likely benign rs142057050 GRCh37 Chromosome X, 135748126: 135748126
43 ARHGEF6 NM_004840.2(ARHGEF6): c.*1141G> T single nucleotide variant Benign rs147013994 GRCh38 Chromosome X, 136666888: 136666888
44 ARHGEF6 NM_004840.2(ARHGEF6): c.*1141G> T single nucleotide variant Benign rs147013994 GRCh37 Chromosome X, 135749047: 135749047
45 ARHGEF6 NM_004840.2(ARHGEF6): c.*1028A> G single nucleotide variant Uncertain significance rs747024117 GRCh38 Chromosome X, 136667001: 136667001
46 ARHGEF6 NM_004840.2(ARHGEF6): c.*1028A> G single nucleotide variant Uncertain significance rs747024117 GRCh37 Chromosome X, 135749160: 135749160
47 ARHGEF6 NM_004840.2(ARHGEF6): c.*220T> G single nucleotide variant Uncertain significance rs926836865 GRCh38 Chromosome X, 136667809: 136667809
48 ARHGEF6 NM_004840.2(ARHGEF6): c.*220T> G single nucleotide variant Uncertain significance rs926836865 GRCh37 Chromosome X, 135749968: 135749968
49 ARHGEF6 NM_004840.2(ARHGEF6): c.*38C> T single nucleotide variant Likely benign rs747771125 GRCh37 Chromosome X, 135750150: 135750150
50 ARHGEF6 NM_004840.2(ARHGEF6): c.*38C> T single nucleotide variant Likely benign rs747771125 GRCh38 Chromosome X, 136667991: 136667991

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 10.7 ARHGEF6 PAK3
2 10.29 ARHGEF6 PAK3

GO Terms for Non-Syndromic X-Linked Intellectual Disability

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 9.16 IL1RAPL1 PAK3
2 presynaptic membrane assembly GO:0097105 8.96 IL1RAPL1 NLGN4X
3 synapse organization GO:0050808 8.8 NLGN4X PAK3 RAB39B

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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