MCID: SYN064
MIFTS: 22

Syndromic X-Linked Intellectual Disability

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

Classifications:



External Ids:

Disease Ontology 12 DOID:0060309

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 non-syndromic x-linked intellectual disability and syndromic x-linked intellectual disability snyder type. An important gene associated with Syndromic X-Linked Intellectual Disability is NHS (NHS Actin Remodeling Regulator).

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 55)
# Related Disease Score Top Affiliating Genes
1 non-syndromic x-linked intellectual disability 31.7 ARHGEF6 IL1RAPL1 PAK3 RAB39B RLIM UPF3B
2 syndromic x-linked intellectual disability snyder type 12.4
3 syndromic x-linked intellectual disability 7 12.4
4 syndromic x-linked intellectual disability type 10 12.4
5 syndromic x-linked intellectual disability siderius type 12.4
6 syndromic x-linked intellectual disability cabezas type 12.4
7 syndromic x-linked intellectual disability shashi type 12.4
8 syndromic x-linked intellectual disability 12 12.4
9 syndromic x-linked intellectual disability turner type 12.4
10 syndromic x-linked intellectual disability abidi type 12.4
11 syndromic x-linked intellectual disability nascimento type 12.4
12 syndromic x-linked intellectual disability 14 12.4
13 syndromic x-linked intellectual disability raymond type 12.4
14 mental retardation, x-linked, syndromic, claes-jensen type 11.9
15 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.9
16 pettigrew syndrome 11.9
17 christianson syndrome 11.9
18 lubs x-linked mental retardation syndrome 11.8
19 mental retardation, x-linked, syndromic, hedera type 11.8
20 mental retardation, x-linked, syndromic, wu type 11.8
21 prieto x-linked mental retardation syndrome 11.8
22 mehmo syndrome 11.7
23 mental retardation, x-linked, syndromic 9 11.7
24 mental retardation, x-linked, syndromic 17 11.7
25 mental retardation, x-linked, syndromic, chudley-schwartz type 11.7
26 mental retardation, x-linked, syndromic 34 11.7
27 miles-carpenter syndrome 11.7
28 mental retardation, x-linked, syndromic, christianson type 11.1
29 atkin-flaitz syndrome 11.1
30 stocco dos santos x-linked mental retardation syndrome 11.1
31 hsd10 mitochondrial disease 11.1
32 craniofacioskeletal syndrome 11.1
33 ck syndrome 11.1
34 cerebral-cerebellar-coloboma syndrome, x-linked 11.1
35 partington x-linked mental retardation syndrome 11.1
36 mental retardation-hypotonic facies syndrome, x-linked, 1 11.1
37 wieacker-wolff syndrome 11.1
38 tranebjaerg svejgaard syndrome 11.1
39 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 11.1
40 x-linked intellectual disability, siderius type 11.1
41 x-linked intellectual disability, shashi type 11.1
42 mental retardation, x-linked, syndromic 13 11.1
43 armfield x-linked mental retardation syndrome 11.1
44 mental retardation, x-linked, syndromic, martin-probst type 11.1
45 brooks-wisniewski-brown syndrome 11.1
46 mental retardation, x-linked, syndromic 32 11.1
47 wilson-turner x-linked mental retardation syndrome 11.1
48 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 11.1
49 alacrima, achalasia, and mental retardation syndrome 10.4
50 premature ovarian failure 2b 10.2 POF1B ZNF711

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

Publications for Syndromic X-Linked Intellectual Disability

Articles related to Syndromic X-Linked Intellectual Disability:

# Title Authors Year
1
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. ( 29728705 )
2018
2
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family. ( 28863211 )
2017
3
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. ( 28414775 )
2017
4
A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. ( 28973667 )
2017
5
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. ( 25735484 )
2015
6
CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. School of Medicine, University of California, Los Angeles, CA, USA. ( 21826058 )
2012
7
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. ( 22511892 )
2012
8
Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. ( 21686261 )
2010

Variations for Syndromic X-Linked Intellectual Disability

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NHS NM_198270.3(NHS): c.4385C> G (p.Ser1462Cys) single nucleotide variant Pathogenic GRCh37 Chromosome X, 17750076: 17750076
2 NHS NM_198270.3(NHS): c.4385C> G (p.Ser1462Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 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 regulation of neuron projection development GO:0010975 8.62 IL1RAPL1 PAK3

Sources for Syndromic X-Linked 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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