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

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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 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:

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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

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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 )	Frints S.G.M....Kalscheuer V.M.	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 )	Guarnieri F.C....Valtorta F.	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 )	Shoubridge C....Harvey R.J.	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	32.03	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
3	RLIM	Ring Finger Protein, LIM Domain Interacting	Protein Coding	31.78	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
4	ARHGEF6	Rac/Cdc42 Guanine Nucleotide Exchange Factor 6	Protein Coding	23.24	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
5	IL1RAPL1	Interleukin 1 Receptor Accessory Protein Like 1	Protein Coding	23.23	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
6	GSPT2	G1 To S Phase Transition 2	Protein Coding	21.45	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	CNKSR2	Connector Enhancer Of Kinase Suppressor Of Ras 2	Protein Coding	21.4	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	MAGED1	MAGE Family Member D1	Protein Coding	20.58	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	ZNF81	Zinc Finger Protein 81	Protein Coding	19.96	GeneCards inferred via : Variants (show sections)
10	BRWD3	Bromodomain And WD Repeat Domain Containing 3	Protein Coding	19.87	GeneCards inferred via : Variants (show sections)
11	ZNF41	Zinc Finger Protein 41	Protein Coding	19.69	GeneCards inferred via : Variants (show sections)
12	ZNF674	Zinc Finger Protein 674	Protein Coding	19.41	GeneCards inferred via : Variants (show sections)
13	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	19.39	GeneCards inferred via : Variants (show sections)
14	ZNF711	Zinc Finger Protein 711	Protein Coding	19.36	GeneCards inferred via : Variants (show sections)
15	SYP	Synaptophysin	Protein Coding	19.26	GeneCards inferred via : Variants (show sections)
16	UPF3B	UPF3B, Regulator Of Nonsense Mediated MRNA Decay	Protein Coding	19.17	GeneCards inferred via : Variants (show sections)
17	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	18.97	GeneCards inferred via : Variants (show sections)
18	PRICKLE3	Prickle Planar Cell Polarity Protein 3	Protein Coding	18.71	GeneCards inferred via : Variants (show sections)
19	POF1B	POF1B, Actin Binding Protein	Protein Coding	18.62	GeneCards inferred via : Variants (show sections)
20	LINC01560	Long Intergenic Non-Protein Coding RNA 1560	RNA Gene	8.62	GeneCards inferred via : Variants (show sections)
21	LOC105369163	Uncharacterized LOC105369163	RNA Gene	8.51	GeneCards inferred via : Variants (show sections)
22	ZNF674-AS1	ZNF674 Antisense RNA 1 (Head To Head)	RNA Gene	8.37	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 neuron projection development	GO:0010975	8.62	IL1RAPL1 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

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¹⁶ DrugBank

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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

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³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁸ NCBI Bookshelf

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⁵² NIH Clinical Center

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⁵⁵ Novoseek

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⁵⁹ Orphanet

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⁶¹ PharmGKB

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⁶⁸ SNOMED-CT

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⁷¹ TGDB

⁷² Tocris

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⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia