MCID: NNS032
MIFTS: 46

Non-Syndromic X-Linked Intellectual Disability

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare 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
X-Linked Non-Syndromic Intellectual Disability 20 58
X-Linked Non-Specific Intellectual Disability 20
Non-Specific X-Linked Mental Retardation 12

Characteristics:

Orphanet epidemiological data:

58
x-linked non-syndromic intellectual disability
Inheritance: X-linked recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


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 x-linked non-syndromic intellectual disability, is related to mental retardation, x-linked 101 and mental retardation, x-linked, syndromic 13. An important gene associated with Non-Syndromic X-Linked Intellectual Disability is IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2). Affiliated tissues include brain, and related phenotypes are intellectual disability, moderate and global developmental delay

Related Diseases for Non-Syndromic X-Linked Intellectual Disability

Diseases in the Non-Syndromic X-Linked Intellectual Disability family:

Non-Syndromic X-Linked Intellectual Disability 2 Non-Syndromic X-Linked Intellectual Disability 19
Non-Syndromic X-Linked Intellectual Disability 20 Non-Syndromic X-Linked Intellectual Disability 58
Non-Syndromic X-Linked Intellectual Disability 14 Non-Syndromic X-Linked Intellectual Disability 45
Non-Syndromic X-Linked Intellectual Disability 84 Non-Syndromic X-Linked Intellectual Disability 89
Non-Syndromic X-Linked Intellectual Disability 81 Non-Syndromic X-Linked Intellectual Disability 9
Non-Syndromic X-Linked Intellectual Disability 1 Non-Syndromic X-Linked Intellectual Disability 77
Non-Syndromic X-Linked Intellectual Disability 90 Non-Syndromic X-Linked Intellectual Disability 91
Non-Syndromic X-Linked Intellectual Disability 93 Non-Syndromic X-Linked Intellectual Disability 63
Non-Syndromic X-Linked Intellectual Disability 30 Non-Syndromic X-Linked Intellectual Disability 82
Non-Syndromic X-Linked Intellectual Disability 88 Non-Syndromic X-Linked Intellectual Disability 46
Non-Syndromic X-Linked Intellectual Disability 41 Non-Syndromic X-Linked Intellectual Disability 72

Diseases related to Non-Syndromic X-Linked Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked 101 33.3 USP9X MID2
2 mental retardation, x-linked, syndromic 13 32.7 MECP2 GDI1
3 syndromic x-linked intellectual disability 31.8 ZNF711 RAB39B PTCHD1 PAK3 NLGN4X MECP2
4 alacrima, achalasia, and mental retardation syndrome 31.7 USP9X RPS6KA3 PAK3 MECP2 IQSEC2 IL1RAPL1
5 non-syndromic intellectual disability 31.4 IQSEC2 FTSJ1 DLG3 ARX
6 syndromic intellectual disability 31.4 IQSEC2 DLG3 CLCN4 ARX
7 partington x-linked mental retardation syndrome 31.1 RPS6KA3 PTCHD1 MECP2 ARX
8 mental retardation, x-linked 50 11.7
9 mental retardation, x-linked 23 11.7
10 mental retardation, x-linked 21 11.7
11 mental retardation, x-linked 53 11.7
12 mental retardation, x-linked 73 11.7
13 mental retardation, x-linked 42 11.7
14 mental retardation, x-linked, with or without seizures, arx-related 11.7
15 mental retardation, x-linked 96 11.7
16 mental retardation, x-linked 97 11.7
17 mental retardation, x-linked 92 11.7
18 mental retardation, x-linked 98 11.7
19 mental retardation, x-linked 99 11.7
20 mental retardation, x-linked 100 11.7
21 mental retardation, x-linked 103 11.7
22 mental retardation, x-linked 104 11.7
23 mental retardation, x-linked 105 11.7
24 mental retardation, x-linked 106 11.7
25 mental retardation, x-linked 107 11.7
26 non-syndromic x-linked intellectual disability 2 11.7
27 non-syndromic x-linked intellectual disability 19 11.7
28 non-syndromic x-linked intellectual disability 20 11.7
29 non-syndromic x-linked intellectual disability 58 11.7
30 non-syndromic x-linked intellectual disability 14 11.7
31 non-syndromic x-linked intellectual disability 45 11.7
32 non-syndromic x-linked intellectual disability 84 11.7
33 non-syndromic x-linked intellectual disability 89 11.7
34 non-syndromic x-linked intellectual disability 81 11.7
35 non-syndromic x-linked intellectual disability 9 11.7
36 non-syndromic x-linked intellectual disability 1 11.7
37 non-syndromic x-linked intellectual disability 77 11.7
38 non-syndromic x-linked intellectual disability 90 11.7
39 non-syndromic x-linked intellectual disability 91 11.7
40 non-syndromic x-linked intellectual disability 93 11.7
41 non-syndromic x-linked intellectual disability 63 11.7
42 non-syndromic x-linked intellectual disability 30 11.7
43 non-syndromic x-linked intellectual disability 82 11.7
44 non-syndromic x-linked intellectual disability 88 11.7
45 non-syndromic x-linked intellectual disability 46 11.7
46 non-syndromic x-linked intellectual disability 41 11.7
47 non-syndromic x-linked intellectual disability 72 11.7
48 chromosome xp11.22 duplication syndrome 11.3
49 intellectual developmental disorder, x-linked 108 11.3
50 disease of mental health 10.6 ZNF711 USP9X TSPAN7 SYP RPS6KA3 RAB39B

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

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

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 delayed speech and language development 58 31 frequent (33%) Frequent (79-30%) HP:0000750
4 autistic behavior 58 31 frequent (33%) Frequent (79-30%) HP:0000729
5 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
6 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
7 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
8 pes planus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001763
9 intellectual disability, severe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010864
10 thick lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000179
11 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
12 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
13 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
14 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
15 thin upper lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000219
16 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
17 pyloric stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002021
18 midface retrusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0011800
19 babinski sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0003487
20 intellectual disability, profound 58 31 occasional (7.5%) Occasional (29-5%) HP:0002187
21 small for gestational age 58 31 occasional (7.5%) Occasional (29-5%) HP:0001518
22 broad nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000455
23 meckel diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002245
24 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
25 long palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000637
26 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
27 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
28 periorbital fullness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000629
29 drooling 58 31 occasional (7.5%) Occasional (29-5%) HP:0002307
30 clinodactyly of the 2nd toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0005824
31 shortening of all distal phalanges of the fingers 58 31 occasional (7.5%) Occasional (29-5%) HP:0006118
32 moderate sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008504
33 mild neurosensory hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008587
34 widened subarachnoid space 58 31 occasional (7.5%) Occasional (29-5%) HP:0012704
35 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
36 generalized non-motor (absence) seizure 31 occasional (7.5%) HP:0002121
37 seizures 58 Frequent (79-30%)
38 generalized tonic-clonic seizures 58 Occasional (29-5%)
39 absence seizure 58 Occasional (29-5%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 ACSL4 FTSJ1 GDI1 MECP2 MID2 RAB39B

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ARHGEF6 ARX DLG3 FTSJ1 GDI1 IL1RAPL1
2 nervous system MP:0003631 9.44 ARHGEF6 ARX DLG3 GDI1 IL1RAPL1 IQSEC2

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:

40
Brain

Publications for Non-Syndromic X-Linked Intellectual Disability

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

(show top 50) (show all 86)
# Title Authors PMID Year
1
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. 6 61
21484992 2011
2
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 6
27550844 2018
3
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. 6
27993705 2017
4
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 6
25644381 2016
5
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 6
26793055 2015
6
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 6
24721225 2014
7
Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. 6
24607389 2014
8
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. 6
23674175 2014
9
Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. 6
24115387 2014
10
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 6
23647072 2013
11
Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. 6
22002931 2011
12
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 6
20473311 2010
13
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. 6
20159109 2010
14
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 6
19377476 2009
15
Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family. 6
19012350 2008
16
Mutations in the calcium-related gene IL1RAPL1 are associated with autism. 6
18801879 2008
17
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. 6
18523455 2008
18
Familial deletion within NLGN4 associated with autism and Tourette syndrome. 6
18231125 2008
19
PAK3 related mental disability: further characterization of the phenotype. 6
17853471 2007
20
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. 6
17480217 2007
21
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. 6
17100996 2006
22
A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. 6
16470793 2006
23
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation. 6
16078051 2005
24
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. 6
15850492 2005
25
A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9). 6
15342698 2004
26
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. 6
15162322 2004
27
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 6
15185169 2004
28
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX. 6
15200506 2004
29
ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism. 6
15151512 2004
30
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. 6
14963808 2004
31
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? 6
14735593 2004
32
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3. 6
12884430 2003
33
Brain cysts associated with mutation in the Aristaless related homeobox gene, ARX. 6
12640086 2003
34
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. 6
12525535 2003
35
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. 6
12376946 2002
36
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment. 6
12376945 2002
37
Clinical study and haplotype analysis in two brothers with Partington syndrome. 6
12376938 2002
38
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome. 6
12376949 2002
39
Another family with nonspecific X-linked mental retardation (MRX78) maps to Xp11.4-p11.23. 6
12210308 2002
40
Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3. 6
12116222 2002
41
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58. 6
12070254 2002
42
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. 6
11889467 2002
43
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. 6
11971879 2002
44
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 6
11889465 2002
45
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. 6
11017088 2000
46
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family. 6
11050621 2000
47
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. 6
10946356 2000
48
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. 6
10655063 2000
49
Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region. 6
10449641 1999
50
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. 6
10471494 1999

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 644)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF711 NM_021998.5(ZNF711):c.1573A>T (p.Arg525Ter) SNV Pathogenic 9763 rs199422240 X:84526121-84526121 X:85271115-85271115
2 SYP SYP, 1-BP INS, 274A Insertion Pathogenic 9863
3 SYP SYP, 2-BP DEL/INS Indel Pathogenic 9864
4 SYP SYP, 4-BP DEL, 829GACT Deletion Pathogenic 9865
5 SYP NM_003179.2(SYP):c.649G>C (p.Gly217Arg) SNV Pathogenic 9866 rs137852561 X:49048187-49048187 X:49191730-49191730
6 RAB39B NM_171998.4(RAB39B):c.215+1G>A SNV Pathogenic 10542 rs587776734 X:154493358-154493358 X:155264073-155264073
7 RAB39B NM_171998.4(RAB39B):c.21C>A (p.Tyr7Ter) SNV Pathogenic 10543 rs267606995 X:154493553-154493553 X:155264268-155264268
8 ARHGEF6 ARHGEF6, IVS1AS, T-C, -11 SNV Pathogenic 11432
9 DLG3 DLG3, IVS6DS, G-A, +5 SNV Pathogenic 11518
10 DLG3 DLG3, IVS8DS, G-A, +1 SNV Pathogenic 11519
11 GDI1 NM_001493.3(GDI1):c.275T>C (p.Leu92Pro) SNV Pathogenic 11626 rs121434607 X:153667373-153667373 X:154439027-154439027
12 GDI1 NM_001493.3(GDI1):c.208C>T (p.Arg70Ter) SNV Pathogenic 11627 rs121434608 X:153667165-153667165 X:154438819-154438819
13 GDI1 NM_001493.3(GDI1):c.1268G>C (p.Arg423Pro) SNV Pathogenic 11628 rs121434609 X:153670943-153670943 X:154442596-154442596
14 TSPAN7 NM_004615.3(TSPAN7):c.652G>T (p.Gly218Ter) SNV Pathogenic 11629 rs104894950 X:38540512-38540512 X:38681258-38681258
15 TSPAN7 TSPAN7, 2-BP DEL, 564GT Deletion Pathogenic 11631
16 RPS6KA3 NM_004586.3(RPS6KA3):c.343A>T (p.Thr115Ser) SNV Pathogenic 29932 rs387906703 X:20213246-20213246 X:20195128-20195128
17 DLG3-AS1 NM_021120.4(DLG3):c.1373C>G (p.Ser458Ter) SNV Pathogenic 29943 rs398122847 X:69674134-69674134 X:70454284-70454284
18 USP9X NM_001039591.3(USP9X):c.6278T>A (p.Leu2093His) SNV Pathogenic 127090 rs587777317 X:41077693-41077693 X:41218440-41218440
19 USP9X NM_001039591.3(USP9X):c.7526del (p.Gln2509fs) Deletion Pathogenic 127091 rs587777318 X:41089848-41089848 X:41230595-41230595
20 DLG3 NM_021120.4(DLG3):c.357+1G>C SNV Pathogenic 127193 rs587777359 X:69665409-69665409 X:70445559-70445559
21 DLG3 NM_021120.4(DLG3):c.985+1G>C SNV Pathogenic 127194 rs587777360 X:69670634-69670634 X:70450784-70450784
22 ZNF711 NM_021998.5(ZNF711):c.2054del (p.Phe685fs) Deletion Pathogenic 417761 rs1060505032 X:84526601-84526601 X:85271595-85271595
23 MID2 NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) SNV Pathogenic 143857 rs587777605 X:107148823-107148823 X:107905593-107905593
24 RPS6KA3 NM_004586.3(RPS6KA3):c.1147C>T (p.Arg383Trp) SNV Pathogenic 11659 rs122454129 X:20193362-20193362 X:20175244-20175244
25 RPS6KA3 NM_004586.3(RPS6KA3):c.455_457GAG[1] (p.Gly153del) Microsatellite Pathogenic 29931 rs398122813 X:20212333-20212335 X:20194215-20194217
26 ZNF711 NM_001330574.2(ZNF711):c.2263_2264TG[1] (p.Cys755_Glu756delinsTer) Microsatellite Pathogenic 9762 rs1603009115 X:84526673-84526674 X:85271667-85271668
27 ACSL4 NM_001318510.2(ACSL4):c.1585C>A (p.Arg529Ser) SNV Pathogenic 11564 rs122458138 X:108904872-108904872 X:109661643-109661643
28 ACSL4 NM_001318510.2(ACSL4):c.1003-2A>G SNV Pathogenic 11565 rs1569423317 X:108912404-108912404 X:109669175-109669175
29 ACSL4 NM_001318510.2(ACSL4):c.1001C>T (p.Pro334Leu) SNV Pathogenic 11566 rs122458139 X:108917632-108917632 X:109674403-109674403
30 PAK3 NM_002578.5(PAK3):c.1255C>T (p.Arg419Ter) SNV Pathogenic 11568 rs121434611 X:110439716-110439716 X:111196488-111196488
31 PAK3 NM_002578.5(PAK3):c.199C>T (p.Arg67Cys) SNV Pathogenic 11569 rs121434612 X:110385347-110385347 X:111142119-111142119
32 PAK3 NM_002578.5(PAK3):c.1094C>A (p.Ala365Glu) SNV Pathogenic 11570 rs121434613 X:110437630-110437630 X:111194402-111194402
33 PAK3 NM_002578.5(PAK3):c.1337G>C (p.Trp446Ser) SNV Pathogenic 11571 rs121434614 X:110439798-110439798 X:111196570-111196570
34 GDI1 NM_001493.3(GDI1):c.1184_1185AG[1] (p.Ser396fs) Microsatellite Pathogenic 29933 rs398122814 X:153670767-153670768 X:154442420-154442421
35 DLG3 NM_021120.4(DLG3):c.1092dup (p.Thr365fs) Duplication Pathogenic 29942 rs398122846 X:69671817-69671818 X:70451967-70451968
36 USP9X NM_001039591.3(USP9X):c.260del (p.Pro87fs) Deletion Pathogenic 816935 rs1601957478 X:40990726-40990726 X:41131473-41131473
37 MID2 NM_012216.4(MID2):c.1447del (p.Ser483fs) Deletion Pathogenic 818208 rs1602511836 X:107167583-107167583 X:107924353-107924353
38 GDI1 NM_001493.3(GDI1):c.1060_1064del (p.Ser354fs) Deletion Pathogenic 975399 X:153670525-153670529 X:154442178-154442182
39 RPS6KA3 NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs) Deletion Pathogenic 212067 rs797045920 X:20190910-20190913 X:20172792-20172795
40 RAB39B NM_171998.4(RAB39B):c.559G>T (p.Glu187Ter) SNV Pathogenic 436462 rs1557314191 X:154490171-154490171 X:155260886-155260886
41 IQSEC2 NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp) SNV Pathogenic 10862 rs267607186 X:53276313-53276313 X:53247131-53247131
42 IQSEC2 NM_001111125.3(IQSEC2):c.2273G>A (p.Arg758Gln) SNV Pathogenic 10864 rs267607189 X:53279485-53279485 X:53250303-53250303
43 IQSEC2 NM_001111125.3(IQSEC2):c.1075C>T (p.Arg359Cys) SNV Pathogenic 10865 rs267607188 X:53284038-53284038 X:53254856-53254856
44 FTSJ1 FTSJ1, EX9DEL Deletion Pathogenic 10894
45 FTSJ1 NM_012280.4(FTSJ1):c.196C>T (p.Gln66Ter) SNV Pathogenic 10895 rs1602048836 X:48337009-48337009 X:48478621-48478621
46 FTSJ1 FTSJ1, IVS2, G DEL, +1 Deletion Pathogenic 10896
47 FTSJ1 NM_012280.4(FTSJ1):c.192-2A>G SNV Pathogenic 10897 rs1602048728 X:48337003-48337003 X:48478615-48478615
48 NLGN4X NM_181332.3(NLGN4X):c.1252_1253GA[1] (p.Glu418fs) Microsatellite Pathogenic 11051 rs1569118680 X:5821464-5821465 X:5903423-5903424
49 NLGN4X nsv513783 Deletion Pathogenic 11052
50 LOC109610631 NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup) Duplication Pathogenic 11187 rs387906493 X:25031660-25031661 X:25013543-25013544

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

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 Rab protein signal transduction GO:0032482 9.37 RAB39B GDI1
2 synapse organization GO:0050808 9.33 RAB39B PAK3 NLGN4X
3 dendritic spine development GO:0060996 9.32 PAK3 ACSL4
4 presynaptic membrane assembly GO:0097105 9.26 NLGN4X IL1RAPL1
5 neuron differentiation GO:0030182 9.26 NLGN4X MECP2 IL1RAPL1 ACSL4
6 social behavior GO:0035176 8.8 PTCHD1 NLGN4X MECP2

Sources for Non-Syndromic X-Linked Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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