Syndromic X-Linked Intellectual Disability disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Mental diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060309

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

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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 59)

#	Related Disease	Score	Top Affiliating Genes
1	non-syndromic x-linked intellectual disability	32.6	ACSL4 ARHGEF6 BRWD3 CNKSR2 IL1RAPL1 PAK3
2	x-linked non-specific intellectual disability	30.5	ACSL4 ARHGEF6 CNKSR2 IL1RAPL1 PAK3 RAB39B
3	syndromic x-linked intellectual disability snyder type	12.6
4	syndromic x-linked intellectual disability 7	12.6
5	syndromic x-linked intellectual disability type 10	12.6
6	syndromic x-linked intellectual disability siderius type	12.6
7	syndromic x-linked intellectual disability cabezas type	12.6
8	syndromic x-linked intellectual disability shashi type	12.6
9	syndromic x-linked intellectual disability 12	12.6
10	syndromic x-linked intellectual disability turner type	12.6
11	syndromic x-linked intellectual disability abidi type	12.6
12	syndromic x-linked intellectual disability nascimento type	12.6
13	syndromic x-linked intellectual disability 14	12.6
14	syndromic x-linked intellectual disability raymond type	12.6
15	mental retardation, x-linked, syndromic, claes-jensen type	12.0
16	mental retardation and microcephaly with pontine and cerebellar hypoplasia	12.0
17	wilson-turner x-linked mental retardation syndrome	12.0
18	pettigrew syndrome	12.0
19	prieto x-linked mental retardation syndrome	12.0
20	christianson syndrome	12.0
21	mental retardation, x-linked, syndromic 13	11.9
22	lubs x-linked mental retardation syndrome	11.9
23	mental retardation, x-linked, syndromic, hedera type	11.9
24	mental retardation, x-linked, syndromic, wu type	11.9
25	mehmo syndrome	11.9
26	mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance	11.9
27	mental retardation, x-linked, syndromic 9	11.9
28	mental retardation, x-linked, syndromic 17	11.9
29	mental retardation, x-linked, syndromic, chudley-schwartz type	11.9
30	mental retardation, x-linked, syndromic 32	11.9
31	mental retardation, x-linked, syndromic 34	11.9
32	miles-carpenter syndrome	11.9
33	x-linked intellectual disability, najm type	11.4
34	mental retardation, x-linked, syndromic, christianson type	11.3
35	atkin-flaitz syndrome	11.3
36	stocco dos santos x-linked mental retardation syndrome	11.3
37	hsd10 mitochondrial disease	11.3
38	chromosome xp11.3 deletion syndrome	11.3
39	craniofacioskeletal syndrome	11.3
40	mental retardation, x-linked, syndromic, nascimento type	11.3
41	cerebral-cerebellar-coloboma syndrome, x-linked	11.3
42	mental retardation and psoriasis	11.3
43	partington x-linked mental retardation syndrome	11.3
44	mental retardation-hypotonic facies syndrome, x-linked, 1	11.3
45	mental retardation, x-linked, syndromic, snyder-robinson type	11.3
46	ophn1 syndrome	11.3
47	stocco dos santos syndrome	11.3
48	tranebjaerg svejgaard syndrome	11.3
49	x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis	11.3
50	x-linked intellectual disability, siderius type	11.3

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

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Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability

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Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability

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

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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

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Anatomical Context for Syndromic X-Linked Intellectual Disability

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

⁴¹

Eye

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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 )	Duan Y....Duan S.	2017
3	Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. ( 28414775 )	Grau C....Scott D.A.	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 )	TA...Fiskerstrand T.	2015
6	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. School of Medicine, University of California, Los Angeles, CA, USA. ( 21826058 )	Voineagu I....Geschwind D.	2012
7	Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. ( 22511892 )	Houge G....Hovland R.	2012
8	Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. ( 21686261 )		2010

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Genes for Syndromic X-Linked Intellectual Disability

Genes related to Syndromic X-Linked Intellectual Disability (1 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NHS	NHS Actin Remodeling Regulator	Protein Coding	400	Pathogenic ⁶
2	CCDC22	Coiled-Coil Domain Containing 22	Protein Coding	31.72	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
3	RLIM	Ring Finger Protein, LIM Domain Interacting	Protein Coding	31.44	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
4	IL1RAPL1	Interleukin 1 Receptor Accessory Protein Like 1	Protein Coding	23.6	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
5	ACSL4	Acyl-CoA Synthetase Long Chain Family Member 4	Protein Coding	23.06	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
6	ARHGEF6	Rac/Cdc42 Guanine Nucleotide Exchange Factor 6	Protein Coding	23.02	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
7	CNKSR2	Connector Enhancer Of Kinase Suppressor Of Ras 2	Protein Coding	22.1	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	GSPT2	G1 To S Phase Transition 2	Protein Coding	21.1	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	MAGED1	MAGE Family Member D1	Protein Coding	20.37	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	ZNF81	Zinc Finger Protein 81	Protein Coding	19.87	GeneCards inferred via : Variants (show sections)
11	BRWD3	Bromodomain And WD Repeat Domain Containing 3	Protein Coding	19.78	GeneCards inferred via : Variants (show sections)
12	ZNF41	Zinc Finger Protein 41	Protein Coding	19.6	GeneCards inferred via : Variants (show sections)
13	ZNF674	Zinc Finger Protein 674	Protein Coding	19.32	GeneCards inferred via : Variants (show sections)
14	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	19.3	GeneCards inferred via : Variants (show sections)
15	ZNF711	Zinc Finger Protein 711	Protein Coding	19.27	GeneCards inferred via : Variants (show sections)
16	SYP	Synaptophysin	Protein Coding	19.17	GeneCards inferred via : Variants (show sections)
17	UPF3B	UPF3B, Regulator Of Nonsense Mediated MRNA Decay	Protein Coding	19.08	GeneCards inferred via : Variants (show sections)
18	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	18.88	GeneCards inferred via : Variants (show sections)
19	PRICKLE3	Prickle Planar Cell Polarity Protein 3	Protein Coding	18.62	GeneCards inferred via : Variants (show sections)
20	POF1B	POF1B, Actin Binding Protein	Protein Coding	18.53	GeneCards inferred via : Variants (show sections)
21	LINC01560	Long Intergenic Non-Protein Coding RNA 1560	RNA Gene	8.53	GeneCards inferred via : Variants (show sections)
22	LOC105369163	Uncharacterized LOC105369163	RNA Gene	8.42	GeneCards inferred via : Variants (show sections)

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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

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Expression for Syndromic X-Linked Intellectual Disability

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

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Pathways for Syndromic X-Linked Intellectual Disability

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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 transcription by RNA polymerase II	GO:0006357	9.63	BRWD3 MAGED1 ZNF41 ZNF674 ZNF711 ZNF81
2	regulation of neuron projection development	GO:0010975	8.96	IL1RAPL1 PAK3
3	dendritic spine development	GO:0060996	8.62	ACSL4 PAK3

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Sources for Syndromic X-Linked Intellectual Disability

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

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¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia