MCID: XLN224
MIFTS: 22

X-Linked Non-Specific Intellectual Disability

Categories: Neuronal diseases, Rare diseases

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

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

Name: X-Linked Non-Specific Intellectual Disability 53 59
X-Linked Non-Syndromic Intellectual Disability 53 59

Characteristics:

Orphanet epidemiological data:

59
x-linked non-syndromic intellectual disability
Inheritance: X-linked recessive; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA777
UMLS via Orphanet 74 C2931498
SNOMED-CT via HPO 69 228156007 247578003 91138005

Summaries for X-Linked Non-Specific Intellectual Disability

MalaCards based summary : X-Linked Non-Specific Intellectual Disability, also known as x-linked non-syndromic intellectual disability, is related to chromosome xp21 deletion syndrome and mental retardation, x-linked, syndromic 13. An important gene associated with X-Linked Non-Specific Intellectual Disability is RLIM (Ring Finger Protein, LIM Domain Interacting). Related phenotypes are intellectual disability and Decreased viability

Related Diseases for X-Linked Non-Specific Intellectual Disability

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



Diseases related to X-Linked Non-Specific Intellectual Disability

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

Human phenotypes related to X-Linked Non-Specific Intellectual Disability:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249

GenomeRNAi Phenotypes related to X-Linked Non-Specific Intellectual Disability according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.73 PAK3
2 Decreased viability GR00221-A-2 9.73 PAK3 RPS6KA3
3 Decreased viability GR00221-A-3 9.73 PAK3
4 Decreased viability GR00342-S-1 9.73 AGTR2 PAK3 RPS6KA3
5 Decreased viability GR00342-S-2 9.73 PAK3
6 Decreased viability GR00342-S-3 9.73 AGTR2
7 Decreased viability GR00402-S-2 9.73 AGTR2 PAK3 RPS6KA3
8 Increased vaccinia virus (VACV) infection GR00249-S 9.6 ACSL4 AGTR2 ARHGEF6 ARX CLCN4 CNKSR2

MGI Mouse Phenotypes related to X-Linked Non-Specific Intellectual Disability:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 AGTR2 ARHGEF6 ARX DLG3 DMD FRMPD4
2 nervous system MP:0003631 9.44 AGTR2 ARHGEF6 ARX CXorf56 DLG3 DMD

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

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

Genetic Tests for X-Linked Non-Specific Intellectual Disability

Anatomical Context for X-Linked Non-Specific Intellectual Disability

Publications for X-Linked Non-Specific Intellectual Disability

Variations for X-Linked Non-Specific Intellectual Disability

ClinVar genetic disease variations for X-Linked Non-Specific 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 X-Linked Non-Specific Intellectual Disability

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

Pathways for X-Linked Non-Specific Intellectual Disability

GO Terms for X-Linked Non-Specific Intellectual Disability

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.56 CNKSR2 DLG3 DMD GDI1
2 neuronal cell body GO:0043025 9.55 ACSL4 CNKSR2 DLG3 DMD GDI1
3 glutamatergic synapse GO:0098978 9.35 CNKSR2 DLG3 FRMPD4 IL1RAPL1 PAK3
4 postsynaptic density GO:0014069 9.02 CNKSR2 DLG3 DMD FRMPD4 PAK3

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

# Name GO ID Score Top Affiliating Genes
1 regulation of neuron projection development GO:0010975 8.96 IL1RAPL1 PAK3
2 dendritic spine development GO:0060996 8.62 ACSL4 PAK3

Sources for X-Linked Non-Specific 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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