MCID: SYN064
MIFTS: 25

Syndromic X-Linked Intellectual Disability

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Syndromic X-Linked Intellectual Disability

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability:

Name: Syndromic X-Linked Intellectual Disability 12 15
Syndromic Intellectual Disability, X-Linked 29 6
X-Linked Syndromic Intellectual Disability 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060309
Orphanet 58 ORPHA98464

Summaries for Syndromic X-Linked Intellectual Disability

Disease Ontology : 12 A syndromic intellectual characterized by an X-linked inheritance pattern.

MalaCards based summary : Syndromic X-Linked Intellectual Disability, also known as syndromic intellectual disability, x-linked, is related to syndromic x-linked intellectual disability siderius type and syndromic x-linked intellectual disability type 10. An important gene associated with Syndromic X-Linked Intellectual Disability is NHS (NHS Actin Remodeling Regulator). Related phenotype is behavior/neurological.

Related Diseases for Syndromic X-Linked Intellectual Disability

Diseases in the Syndromic X-Linked Intellectual Disability Type 10 family:

Syndromic X-Linked Intellectual Disability Syndromic X-Linked Intellectual Disability 12
Syndromic X-Linked Intellectual Disability 7 Syndromic X-Linked Intellectual Disability 14
Syndromic X-Linked Intellectual Disability 94

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability siderius type 33.1 ZNF711 ZNF674 ZNF41 PHF8
2 syndromic x-linked intellectual disability type 10 33.0 MECP2 IQSEC2 IL1RAPL1
3 christianson syndrome 32.3 MECP2 CNKSR2
4 non-syndromic x-linked intellectual disability 31.9 ZNF81 ZNF711 ZNF674 ZNF41 SYN1 RLIM
5 alacrima, achalasia, and mental retardation syndrome 30.9 SMS PHF8 PAK3 MECP2 IQSEC2 IL1RAPL1
6 syndromic intellectual disability 30.8 NHS IQSEC2 CNKSR2 BRWD3
7 lubs x-linked mental retardation syndrome 11.8
8 mental retardation, x-linked, syndromic, claes-jensen type 11.8
9 syndromic x-linked intellectual disability snyder type 11.8
10 syndromic x-linked intellectual disability turner type 11.8
11 syndromic x-linked intellectual disability 94 11.7
12 syndromic x-linked intellectual disability shashi type 11.7
13 mental retardation, x-linked, syndromic, hedera type 11.7
14 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.7
15 mental retardation, x-linked, syndromic 34 11.7
16 pettigrew syndrome 11.7
17 syndromic x-linked intellectual disability 7 11.7
18 syndromic x-linked intellectual disability cabezas type 11.7
19 bain type of x-linked syndromic intellectual disability 11.6
20 mental retardation, x-linked 50 11.6
21 mental retardation, x-linked 23 11.6
22 mental retardation, x-linked 21 11.6
23 mental retardation, x-linked 53 11.6
24 mental retardation, x-linked, syndromic, cabezas type 11.6
25 mental retardation, x-linked 73 11.6
26 mental retardation, x-linked 42 11.6
27 mental retardation, x-linked, with or without seizures, arx-related 11.6
28 mental retardation, x-linked, syndromic 9 11.6
29 intellectual developmental disorder, x-linked, syndromic, raymond type 11.6
30 mental retardation, x-linked 96 11.6
31 mental retardation, x-linked 97 11.6
32 mental retardation, x-linked 92 11.6
33 mental retardation, x-linked, syndromic 17 11.6
34 mental retardation, x-linked, syndromic, chudley-schwartz type 11.6
35 mental retardation, x-linked 98 11.6
36 mental retardation, x-linked 99 11.6
37 mental retardation, x-linked 100 11.6
38 mental retardation, x-linked 101 11.6
39 mental retardation, x-linked 99, syndromic, female-restricted 11.6
40 mental retardation, x-linked 103 11.6
41 mental retardation, x-linked 104 11.6
42 mental retardation, x-linked 105 11.6
43 mental retardation, x-linked 106 11.6
44 mental retardation, x-linked 107 11.6
45 syndromic x-linked intellectual disability 12 11.6
46 syndromic x-linked intellectual disability abidi type 11.6
47 syndromic x-linked intellectual disability nascimento type 11.6
48 syndromic x-linked intellectual disability 14 11.6
49 non-syndromic x-linked intellectual disability 2 11.6
50 non-syndromic x-linked intellectual disability 19 11.6

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



Diseases related to Syndromic X-Linked Intellectual Disability

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.36 ARHGEF6 CNKSR2 IL1RAPL1 IQSEC2 MECP2 NHS

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability

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

Genetic Tests for Syndromic X-Linked Intellectual Disability

Genetic tests related to Syndromic X-Linked Intellectual Disability:

# Genetic test Affiliating Genes
1 Syndromic Intellectual Disability, X-Linked 29

Anatomical Context for Syndromic X-Linked Intellectual Disability

Publications for Syndromic X-Linked Intellectual Disability

Articles related to Syndromic X-Linked Intellectual Disability:

(show all 27)
# Title Authors PMID Year
1
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency. 61
32768688 2020
2
Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report. 61
32872024 2020
3
Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies. 61
31898314 2020
4
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype. 61
31943778 2020
5
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 61
31536828 2020
6
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. 61
29728705 2019
7
Drosophila homolog of the intellectual disability-related long-chain acyl-CoA synthetase 4 is required for neuroblast proliferation. 61
30594466 2019
8
Lack of 2'-O-methylation in the tRNA anticodon loop of two phylogenetically distant yeast species activates the general amino acid control pathway. 61
29596413 2018
9
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. 61
28973667 2017
10
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. 61
28777483 2017
11
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family. 61
28863211 2017
12
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. 61
28126652 2017
13
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. 61
28414775 2017
14
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. 61
27470653 2016
15
KIAA2022 nonsense mutation in a symptomatic female. 61
26576034 2016
16
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. 61
25735484 2015
17
Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B. 61
26344709 2015
18
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 61
24916641 2015
19
Variants in CUL4B are associated with cerebral malformations. 61
25385192 2015
20
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 61
24898194 2014
21
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 61
24556213 2014
22
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. 61
24583395 2014
23
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. 61
23520119 2013
24
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. 61
22511892 2012
25
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. 61
21826058 2012
26
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. 61
21484992 2011
27
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. 61
21686261 2010

Variations for Syndromic X-Linked Intellectual Disability

ClinVar genetic disease variations for Syndromic X-Linked Intellectual Disability:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NHS NM_001291867.2(NHS):c.4448C>G (p.Ser1483Cys) SNV Pathogenic 375706 rs1481421967 X:17750076-17750076 X:17731956-17731956

Expression for Syndromic X-Linked Intellectual Disability

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

Pathways for Syndromic X-Linked Intellectual Disability

GO Terms for Syndromic X-Linked Intellectual Disability

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

# Name GO ID Score Top Affiliating Genes
1 dendritic spine development GO:0060996 8.96 PAK3 ACSL4
2 synapse organization GO:0050808 8.8 SYN1 RAB39B PAK3

Sources for 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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