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 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 syndromic x-linked intellectual disability type 10. An important gene associated with Syndromic X-Linked Intellectual Disability is NHS (NHS Actin Remodeling Regulator). Related phenotype is behavior/neurological.

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Related Diseases for Syndromic X-Linked Intellectual Disability

Diseases in the Syndromic X-Linked Intellectual Disability Type 10 family:

Syndromic X-Linked Intellectual Disability	Syndromic X-Linked Intellectual Disability 12
Syndromic X-Linked Intellectual Disability 7	Syndromic X-Linked Intellectual Disability 14
Syndromic X-Linked Intellectual Disability 94

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

(show top 50) (show all 126)

#	Related Disease	Score	Top Affiliating Genes
1	syndromic x-linked intellectual disability siderius type	33.1	ZNF711 ZNF674 ZNF41 PHF8
2	syndromic x-linked intellectual disability type 10	33.0	MECP2 IQSEC2 IL1RAPL1
3	christianson syndrome	32.3	MECP2 CNKSR2
4	non-syndromic x-linked intellectual disability	31.9	ZNF81 ZNF711 ZNF674 ZNF41 SYN1 RLIM
5	alacrima, achalasia, and mental retardation syndrome	30.9	SMS PHF8 PAK3 MECP2 IQSEC2 IL1RAPL1
6	syndromic intellectual disability	30.8	NHS IQSEC2 CNKSR2 BRWD3
7	lubs x-linked mental retardation syndrome	11.8
8	mental retardation, x-linked, syndromic, claes-jensen type	11.8
9	syndromic x-linked intellectual disability snyder type	11.8
10	syndromic x-linked intellectual disability turner type	11.8
11	syndromic x-linked intellectual disability 94	11.7
12	syndromic x-linked intellectual disability shashi type	11.7
13	mental retardation, x-linked, syndromic, hedera type	11.7
14	mental retardation and microcephaly with pontine and cerebellar hypoplasia	11.7
15	mental retardation, x-linked, syndromic 34	11.7
16	pettigrew syndrome	11.7
17	syndromic x-linked intellectual disability 7	11.7
18	syndromic x-linked intellectual disability cabezas type	11.7
19	bain type of x-linked syndromic intellectual disability	11.6
20	mental retardation, x-linked 50	11.6
21	mental retardation, x-linked 23	11.6
22	mental retardation, x-linked 21	11.6
23	mental retardation, x-linked 53	11.6
24	mental retardation, x-linked, syndromic, cabezas type	11.6
25	mental retardation, x-linked 73	11.6
26	mental retardation, x-linked 42	11.6
27	mental retardation, x-linked, with or without seizures, arx-related	11.6
28	mental retardation, x-linked, syndromic 9	11.6
29	intellectual developmental disorder, x-linked, syndromic, raymond type	11.6
30	mental retardation, x-linked 96	11.6
31	mental retardation, x-linked 97	11.6
32	mental retardation, x-linked 92	11.6
33	mental retardation, x-linked, syndromic 17	11.6
34	mental retardation, x-linked, syndromic, chudley-schwartz type	11.6
35	mental retardation, x-linked 98	11.6
36	mental retardation, x-linked 99	11.6
37	mental retardation, x-linked 100	11.6
38	mental retardation, x-linked 101	11.6
39	mental retardation, x-linked 99, syndromic, female-restricted	11.6
40	mental retardation, x-linked 103	11.6
41	mental retardation, x-linked 104	11.6
42	mental retardation, x-linked 105	11.6
43	mental retardation, x-linked 106	11.6
44	mental retardation, x-linked 107	11.6
45	syndromic x-linked intellectual disability 12	11.6
46	syndromic x-linked intellectual disability abidi type	11.6
47	syndromic x-linked intellectual disability nascimento type	11.6
48	syndromic x-linked intellectual disability 14	11.6
49	non-syndromic x-linked intellectual disability 2	11.6
50	non-syndromic x-linked intellectual disability 19	11.6

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

MGI Mouse Phenotypes related to Syndromic X-Linked Intellectual Disability:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.36	ARHGEF6 CNKSR2 IL1RAPL1 IQSEC2 MECP2 NHS

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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:

(show all 27)

#	Title	Authors	PMID	Year
1	Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency. ⁶¹	Ritelli M...Colombi M	32768688	2020
2	Exon 21 deletion in the OPHN1 gene in a family with syndromic X-linked intellectual disability: Case report. ⁶¹	Boglis A...Banescu C	32872024	2020
3	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
4	Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype. ⁶¹	Peron A...Canevini MP	31943778	2020
5	MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review. ⁶¹	Rubinato E...Marlin S	31536828	2020
6	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
7	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
8	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
9	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
10	Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. ⁶¹	Gieldon L...Tzschach A	28777483	2017
11	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
12	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
13	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
14	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
15	KIAA2022 nonsense mutation in a symptomatic female. ⁶¹	Farach LS...Northrup H	26576034	2016
16	Syndromic X-linked intellectual disability segregating with a missense variant in RLIM. ⁶¹	Tonne E...Fiskerstrand T	25735484	2015
17	Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B. ⁶¹	Hannah J...Zhou P	26344709	2015
18	Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. ⁶¹	Kolanczyk M...Horn D	24916641	2015
19	Variants in CUL4B are associated with cerebral malformations. ⁶¹	Vulto-van Silfhout AT...de Brouwer AP	25385192	2015
20	Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability. ⁶¹	Londin ER...Fortina P	24898194	2014
21	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
22	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
23	Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. ⁶¹	Gazou A...Tzschach A	23520119	2013
24	Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. ⁶¹	Houge G...Hovland R	22511892	2012
25	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. ⁶¹	Voineagu I...Geschwind D	21826058	2012
26	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
27	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 47)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NHS	NHS Actin Remodeling Regulator	Protein Coding	403.46	Pathogenic ⁶ DISEASES inferred ¹⁵
2	CCDC22	Coiled-Coil Domain Containing 22	Protein Coding	22.18	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
3	RLIM	Ring Finger Protein, LIM Domain Interacting	Protein Coding	20.76	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
4	SMS	Spermine Synthase	Protein Coding	15.49	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
5	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	14.67	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
6	PHF8	PHD Finger Protein 8	Protein Coding	13.91	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
7	ZNF81	Zinc Finger Protein 81	Protein Coding	13.59	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
8	HUWE1	HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	13.5	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
9	ZNF711	Zinc Finger Protein 711	Protein Coding	13.36	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
10	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	13.04	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
11	ACSL4	Acyl-CoA Synthetase Long Chain Family Member 4	Protein Coding	12.92	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
12	ARHGEF6	Rac/Cdc42 Guanine Nucleotide Exchange Factor 6	Protein Coding	12.91	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
13	ZNF674	Zinc Finger Protein 674	Protein Coding	12.55	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
14	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	12.43	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
15	CNKSR2	Connector Enhancer Of Kinase Suppressor Of Ras 2	Protein Coding	12.3	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	IL1RAPL1	Interleukin 1 Receptor Accessory Protein Like 1	Protein Coding	12.21	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
17	ZNF41	Zinc Finger Protein 41	Protein Coding	12.19	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
18	SYN1	Synapsin I	Protein Coding	12.07	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	BRWD3	Bromodomain And WD Repeat Domain Containing 3	Protein Coding	12.02	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
20	IQSEC2	IQ Motif And Sec7 Domain ArfGEF 2	Protein Coding	11.91	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	GSPT2	G1 To S Phase Transition 2	Protein Coding	11.56	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	PTCHD1	Patched Domain Containing 1	Protein Coding	11.5	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
23	NLGN4X	Neuroligin 4 X-Linked	Protein Coding	11	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
24	POF1B	POF1B Actin Binding Protein	Protein Coding	8.5	GeneCards inferred via : Variants (show sections)
25	SAV1	Salvador Family WW Domain Containing Protein 1	Protein Coding	8.01	DISEASES inferred ¹⁵
26	LATS1	Large Tumor Suppressor Kinase 1	Protein Coding	8.01	DISEASES inferred ¹⁵
27	WWC1	WW And C2 Domain Containing 1	Protein Coding	7.91	DISEASES inferred ¹⁵
28	SLC9A6	Solute Carrier Family 9 Member A6	Protein Coding	7.89	DISEASES inferred ¹⁵
29	H2AC18	H2A Clustered Histone 18	Protein Coding	7.71	DISEASES inferred ¹⁵ ¹⁵
30	PQBP1	Polyglutamine Binding Protein 1	Protein Coding	7.7	DISEASES inferred ¹⁵
31	H2AC12	H2A Clustered Histone 12	Protein Coding	7.46	DISEASES inferred ¹⁵
32	RBMX	RNA Binding Motif Protein X-Linked	Protein Coding	7.46	GeneCards inferred via : Variants (show sections)
33	SLC9A7	Solute Carrier Family 9 Member A7	Protein Coding	7.38	DISEASES inferred ¹⁵
34	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	7.35	DISEASES inferred ¹⁵
35	MAGED1	MAGE Family Member D1	Protein Coding	7.27	GeneCards inferred via : Publications (show sections)
36	MOB1A	MOB Kinase Activator 1A	Protein Coding	7.2	DISEASES inferred ¹⁵
37	AJUBA	Ajuba LIM Protein	Protein Coding	7.18	DISEASES inferred ¹⁵
38	LATS2	Large Tumor Suppressor Kinase 2	Protein Coding	7.11	DISEASES inferred ¹⁵
39	LGALS4	Galectin 4	Protein Coding	7.08	DISEASES inferred ¹⁵
40	PRPS1	Phosphoribosyl Pyrophosphate Synthetase 1	Protein Coding	7.02	DISEASES inferred ¹⁵
41	H2AC13	H2A Clustered Histone 13	Protein Coding	6.96	DISEASES inferred ¹⁵
42	PHF6	PHD Finger Protein 6	Protein Coding	6.9	DISEASES inferred ¹⁵
43	ERC2-IT1	ERC2 Intronic Transcript 1	RNA Gene	6.89	DISEASES inferred ¹⁵
44	WT1	WT1 Transcription Factor	Protein Coding	6.87	DISEASES inferred ¹⁵
45	TAOK1	TAO Kinase 1	Protein Coding	6.77	DISEASES inferred ¹⁵
46	AMER1	APC Membrane Recruitment Protein 1	Protein Coding	6.73	DISEASES inferred ¹⁵
47	TAOK2	TAO Kinase 2	Protein Coding	6.7	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_001291867.2(NHS):c.4448C>G (p.Ser1483Cys)	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

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	8.96	PAK3 ACSL4
2	synapse organization	GO:0050808	8.8	SYN1 RAB39B 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

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²⁰ GARD

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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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 MedlinePlus Genetics

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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