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 non-syndromic x-linked intellectual disability. An important gene associated with Syndromic X-Linked Intellectual Disability is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye.

Related Diseases for Syndromic X-Linked Intellectual Disability

Diseases in the Syndromic X-Linked Intellectual Disability family:

Syndromic X-Linked Intellectual Disability 12 Syndromic X-Linked Intellectual Disability 7
Syndromic X-Linked Intellectual Disability Type 10 Syndromic X-Linked Intellectual Disability 14

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability siderius type 34.7 ZNF81 ZNF711
2 non-syndromic x-linked intellectual disability 33.2 ZNF81 ZNF711 ZNF674 ZNF41 UPF3B SYP
3 alacrima, achalasia, and mental retardation syndrome 31.2 PAK3 IQSEC2 IL1RAPL1 BRWD3
4 autism 30.1 UPF3B SYN1 RAB39B NLGN4X IQSEC2 IL1RAPL1
5 syndromic x-linked intellectual disability snyder type 12.7
6 syndromic x-linked intellectual disability 7 12.7
7 syndromic x-linked intellectual disability type 10 12.7
8 syndromic x-linked intellectual disability turner type 12.7
9 syndromic x-linked intellectual disability cabezas type 12.7
10 syndromic x-linked intellectual disability shashi type 12.7
11 syndromic x-linked intellectual disability 12 12.7
12 syndromic x-linked intellectual disability abidi type 12.7
13 syndromic x-linked intellectual disability nascimento type 12.7
14 syndromic x-linked intellectual disability 14 12.7
15 syndromic x-linked intellectual disability raymond type 12.7
16 bain type of x-linked syndromic intellectual disability 12.7
17 mental retardation, x-linked, syndromic, claes-jensen type 12.2
18 mental retardation and microcephaly with pontine and cerebellar hypoplasia 12.2
19 pettigrew syndrome 12.2
20 wilson-turner x-linked mental retardation syndrome 12.2
21 prieto x-linked mental retardation syndrome 12.2
22 christianson syndrome 12.2
23 mental retardation, x-linked, syndromic 13 12.1
24 lubs x-linked mental retardation syndrome 12.1
25 mental retardation, x-linked, syndromic, hedera type 12.1
26 mental retardation, x-linked, syndromic, wu type 12.1
27 mental retardation, x-linked, syndromic 17 12.1
28 mehmo syndrome 12.0
29 mental retardation, x-linked, syndromic, cabezas type 12.0
30 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 12.0
31 mental retardation, x-linked, syndromic 9 12.0
32 mental retardation, x-linked, syndromic, chudley-schwartz type 12.0
33 mental retardation, x-linked, syndromic 32 12.0
34 mental retardation, x-linked, syndromic 34 12.0
35 miles-carpenter syndrome 12.0
36 x-linked intellectual disability, najm type 11.6
37 mental retardation, x-linked, with craniofacial dysmorphism 11.5
38 mental retardation, x-linked, syndromic, christianson type 11.5
39 atkin-flaitz syndrome 11.5
40 stocco dos santos x-linked mental retardation syndrome 11.5
41 hsd10 mitochondrial disease 11.5
42 craniofacioskeletal syndrome 11.5
43 mental retardation, x-linked, syndromic, nascimento type 11.5
44 cerebral-cerebellar-coloboma syndrome, x-linked 11.5
45 mental retardation and psoriasis 11.5
46 renpenning syndrome 1 11.5
47 partington x-linked mental retardation syndrome 11.5
48 mental retardation, x-linked, syndromic, snyder-robinson type 11.5
49 mental retardation, x-linked, syndromic, turner type 11.5
50 ophn1 syndrome 11.5

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

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

MalaCards organs/tissues related to Syndromic X-Linked Intellectual Disability:

40
Eye

Publications for Syndromic X-Linked Intellectual Disability

Articles related to Syndromic X-Linked Intellectual Disability:

(show all 25)
# Title Authors PMID Year
1
Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies. 61
31898314 2020
2
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype. 61
31943778 2020
3
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. 61
29728705 2019
4
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. 61
31536828 2019
5
Drosophila homolog of the intellectual disability-related long-chain acyl-CoA synthetase 4 is required for neuroblast proliferation. 61
30594466 2019
6
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
7
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. 61
28973667 2017
8
Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. 61
28777483 2017
9
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family. 61
28863211 2017
10
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
11
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. 61
28414775 2017
12
Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. 61
27470653 2016
13
KIAA2022 nonsense mutation in a symptomatic female. 61
26576034 2016
14
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. 61
25735484 2015
15
Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B. 61
26344709 2015
16
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. 61
24916641 2015
17
Variants in CUL4B are associated with cerebral malformations. 61
25385192 2015
18
Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. 61
24898194 2014
19
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. 61
24556213 2014
20
KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. 61
24583395 2014
21
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. 61
23520119 2013
22
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. 61
21826058 2012
23
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. 61
22511892 2012
24
Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism. 61
21484992 2011
25
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_198270.4(NHS):c.4385C>G (p.Ser1462Cys)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

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

# Name GO ID Score Top Affiliating Genes
1 postsynaptic density GO:0014069 9.26 SYN1 PAK3 NLGN4X CNKSR2
2 excitatory synapse GO:0060076 9.16 SYP NLGN4X
3 Schaffer collateral - CA1 synapse GO:0098685 8.8 SYP SYN1 IQSEC2

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

Sources for 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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