MCID: NNS032
MIFTS: 31

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 x-linked non-specific intellectual disability. 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 brain.

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
Brain

Publications for Non-Syndromic X-Linked Intellectual Disability

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

(show top 50) (show all 59)
# Title Authors PMID Year
1
Drosophila homolog of the intellectual disability-related long-chain acyl-CoA synthetase 4 is required for neuroblast proliferation. 38
30594466 2019
2
Lack of 2'-O-methylation in the tRNA anticodon loop of two phylogenetically distant yeast species activates the general amino acid control pathway. 38
29596413 2018
3
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. 38
28973667 2017
4
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. 38
28777483 2017
5
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family. 38
28863211 2017
6
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. 38
28126652 2017
7
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. 38
27470653 2016
8
KIAA2022 nonsense mutation in a symptomatic female. 38
26576034 2016
9
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability. 38
26354035 2015
10
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 38
24556213 2014
11
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. 38
24583395 2014
12
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. 38
23520119 2013
13
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. 38
22511892 2012
14
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. 38
21484992 2011
15
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. 38
21686261 2010
16
[Anassociation study between OPHN1 gene rs492933 polymorphism and mental retardation in children of the Qinba Mountain region.]. 38
18930891 2008
17
[Relationship between FACL4 and non-specific X-linked mental retardation]. 38
18819498 2008
18
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. 38
16169931 2006
19
[Non-specific X-linked mental retardation]. 38
16506138 2006
20
Classic Rett syndrome in a boy with R133C mutation of MECP2. 38
16122633 2005
21
Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene. 38
14735583 2004
22
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. 38
12525535 2003
23
Cognitive and behavioral characteristics in 4 affected males of a family with non-specific X-linked mental retardation and TM4 SF2-gene mutation. 38
12150222 2002
24
Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2. 38
11477616 2001
25
MECP2 is highly mutated in X-linked mental retardation. 38
11309367 2001
26
The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR). 38
11334618 2001
27
The clinical significance of fragile sites on human chromosomes. 38
11076037 2000
28
MECP2 mutation in male patients with non-specific X-linked mental retardation. 38
11007980 2000
29
[Sex-linked mental retardation]. 38
10992892 2000
30
The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects. 38
11246464 2000
31
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. 38
10818214 2000
32
Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. 38
10439959 1999
33
Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26. 38
9783701 1998
34
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. 38
9668174 1998
35
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11. 38
9599645 1998
36
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28. 38
8826463 1996
37
Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation. 38
8826461 1996
38
X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1. 38
8826458 1996
39
Regional localisation of two non-specific X-linked mental retardation genes (MRX30 and MRX31). 38
8826460 1996
40
Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. 38
8817323 1996
41
Localization of a non-specific X-linked mental retardation gene, MRX23, to Xq23-q24. 38
8852668 1996
42
Pericentromeric genes for non-specific X-linked mental retardation (MRX). 38
7943039 1994
43
Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22. 38
7943043 1994
44
Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited. 38
7943041 1994
45
Mapping of a gene for non-specific X linked mental retardation: evidence for linkage to chromosomal region Xp21.1-Xp22.3. 38
8230164 1993
46
Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11. 38
1357179 1992
47
Linkage of nonspecific X-linked mental retardation to Xq21.31. 38
1605223 1992
48
Localization of non-specific X-linked mental retardation genes. 38
1605217 1992
49
XLMR genes: update 1992. 38
1605215 1992
50
[Various genetic aspects of X-linked mental retardation]. 38
1349194 1992

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 362)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NLGN4X NM_181332.3(NLGN4X): c.1252_1253GA[1] (p.Glu418fs) short repeat Pathogenic,risk factor X:5821464-5821465 X:5903423-5903424
2 NLGN4X nsv513783 deletion Pathogenic,risk factor
3 RLIM NM_016120.4(RLIM): c.1067A> G (p.Tyr356Cys) single nucleotide variant Pathogenic/Likely pathogenic rs786205133 X:73812083-73812083 X:74592248-74592248
4 SYP NM_003179.2(SYP): c.687C> T (p.Ala229=) single nucleotide variant Conflicting interpretations of pathogenicity rs201427270 X:49048149-49048149 X:49191692-49191692
5 UPF3B NM_080632.2(UPF3B): c.1121G> A (p.Arg374His) single nucleotide variant Conflicting interpretations of pathogenicity rs143538947 X:118971901-118971901 X:119837938-119837938
6 IL1RAPL1 NM_014271.4(IL1RAPL1): c.2067C> G (p.Thr689=) single nucleotide variant Conflicting interpretations of pathogenicity rs140330609 X:29973913-29973913 X:29955796-29955796
7 ZNF81 NM_007137.3(ZNF81): c.417A> G (p.Ile139Met) single nucleotide variant Conflicting interpretations of pathogenicity rs189835360 X:47774462-47774462 X:47915063-47915063
8 ZNF81 NM_007137.3(ZNF81): c.1495A> G (p.Ile499Val) single nucleotide variant Conflicting interpretations of pathogenicity rs182239885 X:47775540-47775540 X:47916141-47916141
9 SYP NM_003179.2(SYP): c.868G> T (p.Gly290Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs376222680 X:49047968-49047968 X:49191511-49191511
10 ZNF674 NM_001039891.3(ZNF674): c.707A> G (p.Lys236Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201621696 X:46360317-46360317 X:46500882-46500882
11 ZNF674 NM_001039891.3(ZNF674): c.601C> T (p.Arg201Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs182004761 X:46360423-46360423 X:46500988-46500988
12 ACSL4 NM_022977.2(ACSL4): c.1821-10G> A single nucleotide variant Conflicting interpretations of pathogenicity rs193072191 X:108902750-108902750 X:109659521-109659521
13 ZNF41 NM_007130.3(ZNF41): c.2114G> A (p.Arg705His) single nucleotide variant Conflicting interpretations of pathogenicity rs144904486 X:47307055-47307055 X:47447656-47447656
14 SYP NM_003179.2(SYP): c.877G> A (p.Gly293Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs139475570 X:49047959-49047959 X:49191502-49191502
15 BRWD3 NM_153252.5(BRWD3): c.2184G> A (p.Ala728=) single nucleotide variant Conflicting interpretations of pathogenicity rs369118921 X:79973119-79973119 X:80717620-80717620
16 ZNF711 NM_021998.5(ZNF711): c.2024C> T (p.Pro675Leu) single nucleotide variant Uncertain significance rs1057516014 X:84526572-84526572 X:85271566-85271566
17 ZNF711 NM_021998.5(ZNF711): c.*47A> G single nucleotide variant Uncertain significance rs755503652 X:84526881-84526881 X:85271875-85271875
18 ZNF711 NM_021998.5(ZNF711): c.*188A> G single nucleotide variant Uncertain significance rs1057516016 X:84527022-84527022 X:85272016-85272016
19 SYP NM_003179.2(SYP): c.-8C> T single nucleotide variant Uncertain significance rs1057515927 X:49056653-49056653 X:49200194-49200194
20 BRWD3 NM_153252.5(BRWD3): c.*2626C> T single nucleotide variant Uncertain significance rs1028184110 X:79929482-79929482 X:80673983-80673983
21 BRWD3 NM_153252.5(BRWD3): c.*1895C> G single nucleotide variant Uncertain significance rs1057516002 X:79930213-79930213 X:80674714-80674714
22 BRWD3 NM_153252.5(BRWD3): c.*1703T> C single nucleotide variant Uncertain significance rs1057516003 X:79930405-79930405 X:80674906-80674906
23 BRWD3 NM_153252.5(BRWD3): c.*6439G> A single nucleotide variant Uncertain significance rs375704347 X:79925669-79925669 X:80670170-80670170
24 BRWD3 NM_153252.4(BRWD3): c.3326-14delT deletion Uncertain significance rs765175433 X:79947491-79947491 X:80691992-80691992
25 BRWD3 NM_153252.4(BRWD3): c.3326-14dupT duplication Uncertain significance rs765175433 X:79947491-79947491 X:80691992-80691992
26 RAB39B NM_171998.4(RAB39B): c.*485T> G single nucleotide variant Uncertain significance rs1057515833 X:154489603-154489603 X:155260318-155260318
27 RAB39B NM_171998.4(RAB39B): c.-61G> C single nucleotide variant Uncertain significance rs898651947 X:154493634-154493634 X:155264349-155264349
28 IL1RAPL1 NM_014271.4(IL1RAPL1): c.-402G> A single nucleotide variant Uncertain significance rs1057515846 X:28605787-28605787 X:28587670-28587670
29 IL1RAPL1 NM_014271.4(IL1RAPL1): c.-82C> A single nucleotide variant Uncertain significance rs1057515849 X:28606107-28606107 X:28587990-28587990
30 IL1RAPL1 NM_014271.4(IL1RAPL1): c.206G> A (p.Ser69Asn) single nucleotide variant Uncertain significance rs747458852 X:29301178-29301178 X:29283061-29283061
31 ZNF674 NM_001039891.3(ZNF674): c.*1710G> A single nucleotide variant Uncertain significance rs924885911 X:46357568-46357568 X:46498133-46498133
32 ZNF674 NM_001039891.3(ZNF674): c.*1562A> G single nucleotide variant Uncertain significance rs1057515887 X:46357716-46357716 X:46498281-46498281
33 ZNF41 NM_007130.3(ZNF41): c.348C> T (p.Phe116=) single nucleotide variant Uncertain significance rs1057515903 X:47308821-47308821 X:47449422-47449422
34 ZNF41 NM_007130.3(ZNF41): c.281A> G (p.His94Arg) single nucleotide variant Uncertain significance rs779348860 X:47315334-47315334 X:47455935-47455935
35 ZNF81 NM_007137.3(ZNF81): c.999T> C (p.Thr333=) single nucleotide variant Uncertain significance rs369210201 X:47775044-47775044 X:47915645-47915645
36 ZNF81 NM_007137.3(ZNF81): c.*2050C> T single nucleotide variant Uncertain significance rs1057515912 X:47778081-47778081 X:47918682-47918682
37 SYP NM_003179.2(SYP): c.*237G> A single nucleotide variant Uncertain significance rs959919923 X:49045503-49045503 X:49189050-49189050
38 ZNF674 NM_001039891.3(ZNF674): c.*1120_*1121del deletion Uncertain significance rs1491247337 X:46358157-46358158 X:46498722-46498723
39 ZNF674 NM_001039891.3(ZNF674): c.425G> T (p.Arg142Ile) single nucleotide variant Uncertain significance rs201330464 X:46360599-46360599 X:46501164-46501164
40 ZNF674 NM_001039891.3(ZNF674): c.-149G> C single nucleotide variant Uncertain significance rs184123294 X:46404814-46404814 X:46545379-46545379
41 IL1RAPL1 NM_014271.4(IL1RAPL1): c.-302dup duplication Uncertain significance rs779869307 X:28605887-28605887 X:28587770-28587770
42 BRWD3 NM_153252.5(BRWD3): c.*5264G> T single nucleotide variant Uncertain significance rs760065405 X:79926844-79926844 X:80671345-80671345
43 ARHGEF6 NM_004840.3(ARHGEF6): c.*595C> T single nucleotide variant Uncertain significance rs1057515776 X:135749593-135749593 X:136667434-136667434
44 ARHGEF6 NM_004840.3(ARHGEF6): c.*109_*110TC[6] short repeat Uncertain significance rs1057515778 X:135750064-135750067 X:136667905-136667908
45 ARHGEF6 NM_004840.3(ARHGEF6): c.*87T> C single nucleotide variant Uncertain significance rs1008606304 X:135750101-135750101 X:136667942-136667942
46 ARHGEF6 NM_004840.3(ARHGEF6): c.183A> G (p.Gln61=) single nucleotide variant Uncertain significance rs1057515782 X:135861639-135861639 X:136779480-136779480
47 RAB39B NM_171998.4(RAB39B): c.*1728A> G single nucleotide variant Uncertain significance rs1057515829 X:154488360-154488360 X:155259075-155259075
48 RAB39B NM_171998.4(RAB39B): c.*659_*660insATA insertion Uncertain significance rs1057515832 X:154489428-154489429 X:155260143-155260144
49 RAB39B NM_171998.4(RAB39B): c.273T> C (p.Ile91=) single nucleotide variant Uncertain significance rs1057515836 X:154490457-154490457 X:155261172-155261172
50 ZNF41 NM_007130.3(ZNF41): c.*469C> T single nucleotide variant Uncertain significance rs1057515902 X:47306360-47306360 X:47446961-47446961

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 PAK3 ARHGEF6

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 NLGN4X IL1RAPL1 CNKSR2
2 postsynaptic density GO:0014069 8.92 SYN1 PAK3 NLGN4X CNKSR2

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 PAK3 IL1RAPL1
2 dendritic spine development GO:0060996 9.16 PAK3 ACSL4
3 presynaptic membrane assembly GO:0097105 8.96 NLGN4X IL1RAPL1
4 synapse organization GO:0050808 8.92 SYN1 RAB39B PAK3 NLGN4X

Sources for Non-Syndromic X-Linked Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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