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

MCID: SYN064 MIFTS: 25	Syndromic X-Linked Intellectual Disability Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Expand all tables

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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

X-Linked Syndromic Intellectual Disability ⁵⁸

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060309

Orphanet ⁵⁸ ORPHA98464

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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 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.

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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 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:

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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:

⁴⁰

Eye

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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	Tejada MI...Ibarluzea N	31898314	2020
2	Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype. ⁶¹	Peron A...Canevini MP	31943778	2020
3	Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. ⁶¹	Frints SGM...Kalscheuer VM	29728705	2019
4	MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. ⁶¹	Rubinato E...Marlin S	31536828	2019
5	Drosophila homolog of the intellectual disability-related long-chain acyl-CoA synthetase 4 is required for neuroblast proliferation. ⁶¹	Jia M...Yao A	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	Han L...Phizicky EM	29596413	2018
7	A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility. ⁶¹	Guarnieri FC...Valtorta F	28973667	2017
8	Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. ⁶¹	Gieldon L...Tzschach A	28777483	2017
9	Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family. ⁶¹	Duan Y...Duan S	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	Hertecant J...Ali BR	28126652	2017
11	Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. ⁶¹	Grau C...Scott DA	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	Laino L...Grammatico P	27470653	2016
13	KIAA2022 nonsense mutation in a symptomatic female. ⁶¹	Farach LS...Northrup H	26576034	2016
14	Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. ⁶¹	Tonne E...Fiskerstrand T	25735484	2015
15	Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B. ⁶¹	Hannah J...Zhou P	26344709	2015
16	Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. ⁶¹	Kolanczyk M...Horn D	24916641	2015
17	Variants in CUL4B are associated with cerebral malformations. ⁶¹	Vulto-van Silfhout AT...de Brouwer AP	25385192	2015
18	Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. ⁶¹	Londin ER...Fortina P	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	Magini P...Seri M	24556213	2014
20	KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature. ⁶¹	Goncalves TF...Santos-Reboucas CB	24583395	2014
21	Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. ⁶¹	Gazou A...Tzschach A	23520119	2013
22	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. ⁶¹	Voineagu I...Geschwind D	21826058	2012
23	Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. ⁶¹	Houge G...Hovland R	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	Franek KJ...Schwartz CE	21484992	2011
25	Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. ⁶¹	Shoubridge C...Harvey RJ	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 49)

- 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	21.61	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
3	RLIM	Ring Finger Protein, LIM Domain Interacting	Protein Coding	20.88	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
4	ZNF81	Zinc Finger Protein 81	Protein Coding	15.24	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
5	ARHGEF6	Rac/Cdc42 Guanine Nucleotide Exchange Factor 6	Protein Coding	14.18	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
6	ZNF711	Zinc Finger Protein 711	Protein Coding	14.15	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
7	SYP	Synaptophysin	Protein Coding	13.94	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
8	ZNF41	Zinc Finger Protein 41	Protein Coding	13.87	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
9	IL1RAPL1	Interleukin 1 Receptor Accessory Protein Like 1	Protein Coding	13.82	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
10	ZNF674	Zinc Finger Protein 674	Protein Coding	13.59	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
11	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	13.58	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
12	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	13.33	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
13	BRWD3	Bromodomain And WD Repeat Domain Containing 3	Protein Coding	13.24	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
14	ACSL4	Acyl-CoA Synthetase Long Chain Family Member 4	Protein Coding	13.22	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
15	UPF3B	UPF3B Regulator Of Nonsense Mediated MRNA Decay	Protein Coding	13.08	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
16	CNKSR2	Connector Enhancer Of Kinase Suppressor Of Ras 2	Protein Coding	12.21	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	NLGN4X	Neuroligin 4 X-Linked	Protein Coding	12.15	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
18	IQSEC2	IQ Motif And Sec7 Domain ArfGEF 2	Protein Coding	11.86	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	SYN1	Synapsin I	Protein Coding	11.72	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	GSPT2	G1 To S Phase Transition 2	Protein Coding	11.43	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	MAGED1	MAGE Family Member D1	Protein Coding	10.82	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	POF1B	POF1B Actin Binding Protein	Protein Coding	8.7	GeneCards inferred via : Variants (show sections)
23	UBE3B	Ubiquitin Protein Ligase E3B	Protein Coding	8.55	DISEASES inferred ¹⁵
24	FGD1	FYVE, RhoGEF And PH Domain Containing 1	Protein Coding	8.16	DISEASES inferred ¹⁵
25	SYP-AS1	SYP Antisense RNA 1	RNA Gene	8	GeneCards inferred via : Variants (show sections)
26	LATS1	Large Tumor Suppressor Kinase 1	Protein Coding	7.98	DISEASES inferred ¹⁵
27	SAV1	Salvador Family WW Domain Containing Protein 1	Protein Coding	7.9	DISEASES inferred ¹⁵
28	WWC1	WW And C2 Domain Containing 1	Protein Coding	7.87	DISEASES inferred ¹⁵
29	H2AC18	H2A Clustered Histone 18	Protein Coding	7.77	DISEASES inferred ¹⁵ ¹⁵
30	SLC9A6	Solute Carrier Family 9 Member A6	Protein Coding	7.76	DISEASES inferred ¹⁵
31	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.71	DISEASES inferred ¹⁵
32	LINC01560	Long Intergenic Non-Protein Coding RNA 1560	RNA Gene	7.66	GeneCards inferred via : Variants (show sections)
33	H2AC12	H2A Clustered Histone 12	Protein Coding	7.57	DISEASES inferred ¹⁵
34	PQBP1	Polyglutamine Binding Protein 1	Protein Coding	7.53	DISEASES inferred ¹⁵
35	SLC9A7	Solute Carrier Family 9 Member A7	Protein Coding	7.33	DISEASES inferred ¹⁵
36	YAP1	Yes Associated Protein 1	Protein Coding	7.31	DISEASES inferred ¹⁵
37	MIR483	MicroRNA 483	RNA Gene	7.26	DISEASES inferred ¹⁵ ¹⁵
38	MOB1A	MOB Kinase Activator 1A	Protein Coding	7.1	DISEASES inferred ¹⁵
39	LATS2	Large Tumor Suppressor Kinase 2	Protein Coding	7.08	DISEASES inferred ¹⁵
40	LGALS4	Galectin 4	Protein Coding	7.07	DISEASES inferred ¹⁵
41	H2AC13	H2A Clustered Histone 13	Protein Coding	7.03	DISEASES inferred ¹⁵
42	AJUBA	Ajuba LIM Protein	Protein Coding	6.98	DISEASES inferred ¹⁵
43	PHF6	PHD Finger Protein 6	Protein Coding	6.96	DISEASES inferred ¹⁵
44	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	6.95	DISEASES inferred ¹⁵
45	WT1	WT1 Transcription Factor	Protein Coding	6.91	DISEASES inferred ¹⁵
46	SIGLEC5	Sialic Acid Binding Ig Like Lectin 5	Protein Coding	6.86	DISEASES inferred ¹⁵ ¹⁵
47	ARX	Aristaless Related Homeobox	Protein Coding	6.79	DISEASES inferred ¹⁵
48	AMER1	APC Membrane Recruitment Protein 1	Protein Coding	6.6	DISEASES inferred ¹⁵
49	CDC42	Cell Division Cycle 42	Protein Coding	6.58	DISEASES inferred ¹⁵

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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

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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

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

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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

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia