Gene Duplication Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Gene Duplication Disease

MalaCards integrated aliases for Gene Duplication Disease:

Name: Gene Duplication Disease ¹² ¹⁵

Gene Duplication Syndrome ¹²

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080712

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Summaries for Gene Duplication Disease

Disease Ontology : ¹² A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene.

MalaCards based summary : Gene Duplication Disease, also known as gene duplication syndrome, is related to alacrima, achalasia, and mental retardation syndrome and split-hand/foot malformation 3. An important gene associated with Gene Duplication Disease is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Androgen receptor signaling pathway. Affiliated tissues include heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : ⁷⁴ Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which... more...

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Related Diseases for Gene Duplication Disease

Diseases related to Gene Duplication Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)

#	Related Disease	Score	Top Affiliating Genes
1	alacrima, achalasia, and mental retardation syndrome	28.8	MECP2 HCFC1 GRM7 GDI1 FOXG1 FMR1
2	split-hand/foot malformation 3	11.5
3	yuan-harel-lupski syndrome	11.3
4	mecp2 disorders	10.3	MECP2 FOXG1
5	developmental and epileptic encephalopathy 14	10.2	MECP2 CDKL5
6	infancy electroclinical syndrome	10.2	MECP2 FOXG1 CDKL5
7	torsion dystonia 4	10.2	PLP1 MECP2
8	bruxism	10.2	MECP2 FOXG1 CDKL5
9	lennox-gastaut syndrome	10.2	MECP2 FOXG1 CDKL5
10	chromosome 14q11-q22 deletion syndrome	10.2	FOXG1 FMR1
11	gait apraxia	10.1	SIN3A MECP2 FOXG1 CDKL5
12	atypical autism	10.1	MECP2 FMR1
13	megalencephalic leukoencephalopathy with subcortical cysts 2a	10.1	PLP1 MECP2
14	pitt-hopkins-like syndrome 1	10.1	MECP2 FMR1 CDKL5
15	developmental and epileptic encephalopathy 8	10.1	RAB39B MECP2 IRAK1 GDI1
16	christianson syndrome	10.1	UBE3A MECP2 FOXG1 CDKL5
17	pitt-hopkins syndrome	10.1	UBE3A MECP2 FOXG1 CDKL5
18	encephalopathy due to defective mitochondrial and peroxisomal fission 1	10.1	MECP2 CDKL5
19	mowat-wilson syndrome	10.1	UBE3A MECP2 FOXG1 CDKL5
20	echolalia	10.1	MECP2 FMR1
21	congenital nervous system abnormality	10.1	UBE3A MECP2 FOXG1 CDKL5
22	sotos syndrome 1	10.1	UBE3A MECP2 FMR1
23	waisman syndrome	10.0	RAB39B HCFC1
24	early infantile epileptic encephalopathy	10.0	UBE3A MECP2 FOXG1 CDKL5
25	cerebral degeneration	10.0	PLP1 GRM7 DLG4
26	angelman syndrome	9.9	UBE3A MECP2 FMR1 CDKL5
27	childhood disintegrative disease	9.9	UBE3A MECP2 FMR1 BDNF
28	speech and communication disorders	9.9	MECP2 FMR1 BDNF
29	benign epilepsy with centrotemporal spikes	9.9	MECP2 FMR1 CDKL5 BDNF
30	chromosomal disease	9.9	UBE3A MECP2 FMR1 BDNF
31	kaufman oculocerebrofacial syndrome	9.9	FMR1 DLG4 BDNF
32	prader-willi syndrome	9.8	UBE3A MECP2 FMR1 BDNF
33	chromosomal duplication syndrome	9.8	MECP2 FMR1 DLG4 BDNF
34	charcot-marie-tooth disease, demyelinating, type 1a	9.8
35	potocki-lupski syndrome	9.8
36	charcot-marie-tooth disease	9.8
37	tooth disease	9.8
38	polyneuropathy	9.8
39	hypotonia	9.8
40	kagami-ogata syndrome	9.8	MECP2 FMR1 DLG4 BDNF
41	phobia, specific	9.8	FMR1 BDNF
42	phelan-mcdermid syndrome	9.7	UBE3A MECP2 FMR1 DLG4 CDKL5
43	non-syndromic x-linked intellectual disability	9.7	RAB39B MECP2 HCFC1 GDI1 FMR1
44	x-linked monogenic disease	9.7	PLP1 MECP2 FMR1 DLG4 BDNF
45	fragile x syndrome	9.6	UBE3A MECP2 FMR1 DLG4 BDNF
46	specific developmental disorder	9.5	UBE3A MECP2 FMR1 DLG4 CDKL5 BDNF
47	pervasive developmental disorder	9.4	UBE3A MECP2 FOXG1 FMR1 DLG4 CDKL5
48	autism spectrum disorder	9.4	UBE3A RAB39B MECP2 FMR1 DLG4 BDNF
49	rett syndrome	9.3	UBE3A SIN3A NCOR1 MECP2 IRAK1 GDI1
50	autism	9.1	UBE3A RAB39B MECP2 GRM7 FOXG1 FMR1

Graphical network of the top 20 diseases related to Gene Duplication Disease:

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Symptoms & Phenotypes for Gene Duplication Disease

GenomeRNAi Phenotypes related to Gene Duplication Disease according to GeneCards Suite gene sharing:

²⁶ (show all 13)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-1	9.93	CDKL5
2	Decreased viability	GR00055-A-2	9.93	CDKL5
3	Decreased viability	GR00221-A-1	9.93	CDKL5
4	Decreased viability	GR00221-A-2	9.93	CDKL5 DLG4
5	Decreased viability	GR00221-A-3	9.93	CDKL5
6	Decreased viability	GR00221-A-4	9.93	CDKL5 IRAK1
7	Decreased viability	GR00249-S	9.93	CDKL5 CSAG1 IRAK1 UBE3A
8	Decreased viability	GR00342-S-1	9.93	CDKL5
9	Decreased viability	GR00342-S-3	9.93	CDKL5
10	Decreased viability	GR00381-A-1	9.93	CSAG1 GDI1
11	Decreased viability	GR00386-A-1	9.93	GRM7 UBE3A
12	Decreased viability	GR00402-S-2	9.93	FXYD7
13	Increased the percentage of infected cells	GR00402-S-1	8.32	CDKL5

MGI Mouse Phenotypes related to Gene Duplication Disease:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	integument	MP:0010771	9.81	BDNF DLG4 FMR1 FOXG1 GRM7 MECP2
2	nervous system	MP:0003631	9.7	BDNF CDKL5 DLG4 FMR1 FOXG1 GDI1
3	taste/olfaction	MP:0005394	8.92	BDNF CDKL5 FOXG1 GDI1

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Drugs & Therapeutics for Gene Duplication Disease

Search Clinical Trials , NIH Clinical Center for Gene Duplication Disease

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Genetic Tests for Gene Duplication Disease

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Anatomical Context for Gene Duplication Disease

MalaCards organs/tissues related to Gene Duplication Disease:

⁴⁰

Heart

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Publications for Gene Duplication Disease

Articles related to Gene Duplication Disease:

#	Title	Authors	PMID	Year
1	Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature. ⁶¹	Stutterd CA...Leventer RJ	31585183	2020
2	Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. ⁶¹	Firouzabadi SG...Behjati F	27796743	2017
3	A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability. ⁶¹	Yuan H...Liang L	26759605	2016
4	A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay. ⁶¹	Liang L...Yuan H	28030855	2016
5	Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. ⁶¹	Yuan B...Lupski JR	26544804	2015
6	Potocki-Lupski syndrome in conjunction with bilateral clubfoot. ⁶¹	Dhanaraj D...Lehman WB	25768679	2015
7	Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients. ⁶¹	Caumes R...Auvin S	24703762	2014

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Genes for Gene Duplication Disease

Genes related to Gene Duplication Disease (0 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	8.95	DISEASES inferred ¹⁵
2	IRAK1	Interleukin 1 Receptor Associated Kinase 1	Protein Coding	6.46	DISEASES inferred ¹⁵
3	TEX28	Testis Expressed 28	Protein Coding	6.42	DISEASES inferred ¹⁵
4	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	6.21	DISEASES inferred ¹⁵
5	FOXG1	Forkhead Box G1	Protein Coding	6.2	DISEASES inferred ¹⁵
6	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	6.17	DISEASES inferred ¹⁵
7	GDI1	GDP Dissociation Inhibitor 1	Protein Coding	6.14	DISEASES inferred ¹⁵
8	PCDHB1	Protocadherin Beta 1	Protein Coding	5.92	DISEASES inferred ¹⁵
9	PLP1	Proteolipid Protein 1	Protein Coding	5.79	DISEASES inferred ¹⁵
10	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	5.71	DISEASES inferred ¹⁵
11	RAB39B	RAB39B, Member RAS Oncogene Family	Protein Coding	5.62	DISEASES inferred ¹⁵
12	GRM7	Glutamate Metabotropic Receptor 7	Protein Coding	5.57	DISEASES inferred ¹⁵
13	FXYD7	FXYD Domain Containing Ion Transport Regulator 7	Protein Coding	5.45	DISEASES inferred ¹⁵
14	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	5.44	DISEASES inferred ¹⁵
15	FMR1	FMRP Translational Regulator 1	Protein Coding	5.42	DISEASES inferred ¹⁵
16	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	5.37	DISEASES inferred ¹⁵
17	HCFC1	Host Cell Factor C1	Protein Coding	5.33	DISEASES inferred ¹⁵
18	CSAG1	Chondrosarcoma Associated Gene 1	Protein Coding	5.28	DISEASES inferred ¹⁵
19	TPSG1	Tryptase Gamma 1	Protein Coding	5.27	DISEASES inferred ¹⁵
20	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	5.24	DISEASES inferred ¹⁵

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Variations for Gene Duplication Disease

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Expression for Gene Duplication Disease

Search GEO for disease gene expression data for Gene Duplication Disease.

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Pathways for Gene Duplication Disease

Pathways related to Gene Duplication Disease according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin Regulation / Acetylation ⁴	11.96	SIN3A NCOR1 MECP2 HCFC1
2	Androgen receptor signaling pathway ¹	11.46	UBE3A SIN3A NCOR1
3	Regulation of nuclear SMAD2/3 signaling ¹	11.22	SIN3A NCOR1 FOXG1
4	Macrophage Differentiation and Growth Inhibition by METS ⁶³ Show member pathways DNA Methylation and Transcriptional Repression ⁶³	10.85	SIN3A NCOR1 MECP2
5	MECP2 and Associated Rett Syndrome ¹	10.81	UBE3A SIN3A NCOR1 MECP2 BDNF

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GO Terms for Gene Duplication Disease

Cellular components related to Gene Duplication Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	dendrite	GO:0030425	9.55	HCFC1 GRM7 FMR1 DLG4 BDNF
2	Sin3 complex	GO:0016580	9.26	SIN3A NCOR1
3	postsynapse	GO:0098794	9.26	MECP2 FMR1 DLG4 BDNF
4	axon	GO:0030424	9.1	HCFC1 GRM7 GDI1 FMR1 DLG4 BDNF

Biological processes related to Gene Duplication Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	Rab protein signal transduction	GO:0032482	8.96	RAB39B GDI1
2	chemical synaptic transmission	GO:0007268	8.92	PLP1 MECP2 GRM7 DLG4

Molecular functions related to Gene Duplication Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	siRNA binding	GO:0035197	8.62	MECP2 FMR1

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Sources for Gene Duplication Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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¹⁰ dbSNP

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

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

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

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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