Chromosomal Duplication Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Chromosomal Duplication Syndrome

MalaCards integrated aliases for Chromosomal Duplication Syndrome:

Name: Chromosomal Duplication Syndrome ¹¹ ¹⁴

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0060429

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Summaries for Chromosomal Duplication Syndrome

Disease Ontology: ¹¹ A chromosomal disease that has material basis in extra copies of a chromosomal region.

MalaCards based summary: Chromosomal Duplication Syndrome is related to chromosome xp11.23-p11.22 duplication syndrome and chromosome 22q11.2 duplication syndrome. An important gene associated with Chromosomal Duplication Syndrome is SERPINA3 (Serpin Family A Member 3), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and Neuroscience. Related phenotypes are growth/size/body region and cellular

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Related Diseases for Chromosomal Duplication Syndrome

Diseases related to Chromosomal Duplication Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 256)

#	Related Disease	Score	Top Affiliating Genes
1	chromosome xp11.23-p11.22 duplication syndrome	11.1
2	chromosome 22q11.2 duplication syndrome	11.1
3	williams-beuren region duplication syndrome	11.1
4	potocki-lupski syndrome	11.1
5	chromosome 3q29 duplication syndrome	11.1
6	chromosome 1q21.1 duplication syndrome	11.1
7	chromosome 5p13 duplication syndrome	11.1
8	chromosome 17p13.3, centromeric, duplication syndrome	11.1
9	chromosome 16p13.3 duplication syndrome	11.1
10	chromosome 17q21.31 duplication syndrome	11.1
11	chromosome 2q31.1 duplication syndrome	11.1
12	chromosome 17q12 duplication syndrome	11.1
13	chromosome 16p11.2 duplication syndrome	11.1
14	chromosome 22q13 duplication syndrome	11.1
15	hypogonadotropic hypogonadism	11.1
16	partial trisomy distal 4q	11.1
17	alzheimer disease 2	10.5	SERPINA3 APP APOE
18	paranoid schizophrenia	10.5	SERPINA3 PRODH H2AC18
19	senile plaque formation	10.5	APP APOE
20	blood coagulation disease	10.5	U2AF1 SERPINA3 PRODH H2AC18
21	cerebral atherosclerosis	10.5	SERPINA3 APP APOE
22	cecal disease	10.5	SERPINA3 H2AC18 AFP
23	phobic disorder	10.5	SERPINA3 PRODH H2AC18
24	early-onset, autosomal dominant alzheimer disease	10.5	PSEN2 PSEN1 APP
25	arteriolosclerosis	10.5	SERPINA3 APP APOE
26	low grade glioma	10.5	SERPINA3 MIR9-1 MIR155 H2AC18
27	uveal disease	10.5	U2AF1 SERPINA3 MIR9-1 H2AC18 CRYAA
28	central nervous system benign neoplasm	10.5	SERPINA3 MIR9-1 MIR155 H2AC18
29	splenic disease	10.5	U2AF1 SERPINA3 H2AC18
30	myositis	10.5	SERPINA3 PSEN1 BACE1 APP
31	hydrocephalus	10.5	SERPINA3 PSEN1 APP APOE
32	patau syndrome	10.5	U2AF1 PAPPA AFP
33	infratentorial cancer	10.5	U2AF1 MIR9-1 MIR155 H2AC18
34	autosomal dominant intellectual developmental disorder	10.5	MIR9-1 H2AC18 DYRK1A
35	reproductive system disease	10.5	U2AF1 SERPINA3 MIR9-1 MIR155 H2AC18
36	mature b-cell neoplasm	10.5	U2AF1 MIR9-1 MIR155 H2AC18
37	degeneration of macula and posterior pole	10.5	SERPINA3 H2AC18 CRYAA APOE
38	macular holes	10.5	SERPINA3 MIR9-1 CRYAA
39	spinal cord disease	10.5	SERPINA3 MIR9-1 MIR155 H2AC18
40	leukocyte disease	10.5	U2AF1 SERPINA3 MIR9-1 MIR155 H2AC18
41	myeloproliferative syndrome, transient	10.5	U2AF1 GATA1 DYRK1A
42	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	10.5	U2AF1 H2AC18 AFP
43	mixed cell type cancer	10.5	SERPINA3 H2AC18 AFP
44	mental depression	10.5	SERPINA3 PRODH MIR9-1 MIR155 H2AC18
45	mast cell neoplasm	10.5	U2AF1 SERPINA3 H2AC18
46	communicating hydrocephalus	10.5	SERPINA3 PSEN1 APP APOE
47	kuru	10.5	SERPINA3 PSEN2 PSEN1 APP
48	gerstmann syndrome	10.5	PSEN2 PSEN1 APOE
49	gerstmann-straussler disease	10.5	SERPINA3 PSEN2 PSEN1 APP
50	alcohol use disorder	10.5	SERPINA3 PRODH H2AC18 AFP

Graphical network of the top 20 diseases related to Chromosomal Duplication Syndrome:

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Symptoms & Phenotypes for Chromosomal Duplication Syndrome

MGI Mouse Phenotypes related to Chromosomal Duplication Syndrome:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	9.97	APOE APP BACE1 DSCAM DYRK1A EPRS1
2	cellular	MP:0005384	9.73	APOE APP BACE1 CRYAA DSCAM DYRK1A
3	integument	MP:0010771	9.28	APOE APP BACE1 GATA1 HOXD13 PSEN1

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Drugs & Therapeutics for Chromosomal Duplication Syndrome

Search Clinical Trials, NIH Clinical Center for Chromosomal Duplication Syndrome

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Genetic Tests for Chromosomal Duplication Syndrome

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Anatomical Context for Chromosomal Duplication Syndrome

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Publications for Chromosomal Duplication Syndrome

Articles related to Chromosomal Duplication Syndrome:

#	Title	Authors	PMID	Year
1	Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome. ⁶²	Varon A...Walz K	31066191	2019
2	Clinical impacts of genomic copy number gains at Xq28. ⁶²	Yamamoto T...Okamoto N	27081496	2014

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Genes for Chromosomal Duplication Syndrome

Genes related to Chromosomal Duplication Syndrome (0 elite genes):

(show top 50) (show all 77)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SERPINA3	Serpin Family A Member 3	Protein Coding	10.11	DISEASES inferred ¹⁴ ¹⁴
2	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	10	DISEASES inferred ¹⁴ ¹⁴
3	H2AC18	H2A Clustered Histone 18	Protein Coding	9.81	DISEASES inferred ¹⁴ ¹⁴
4	PAPPA	Pappalysin 1	Protein Coding	9.1	DISEASES inferred ¹⁴
5	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	8.87	DISEASES inferred ¹⁴
6	MIR155	MicroRNA 155	RNA Gene	8.63	DISEASES inferred ¹⁴ ¹⁴
7	APP	Amyloid Beta Precursor Protein	Protein Coding	8.59	DISEASES inferred ¹⁴
8	CRYAA	Crystallin Alpha A	Protein Coding	8.54	DISEASES inferred ¹⁴ ¹⁴
9	MIR9-1	MicroRNA 9-1	RNA Gene	8.53	DISEASES inferred ¹⁴ ¹⁴
10	PRODH	Proline Dehydrogenase 1	Protein Coding	8.52	DISEASES inferred ¹⁴ ¹⁴
11	RCAN1	Regulator Of Calcineurin 1	Protein Coding	8.51	DISEASES inferred ¹⁴
12	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	8.26	DISEASES inferred ¹⁴ ¹⁴
13	AFP	Alpha Fetoprotein	Protein Coding	7.93	DISEASES inferred ¹⁴
14	GATA1	GATA Binding Protein 1	Protein Coding	7.82	DISEASES inferred ¹⁴
15	DSCAM	DS Cell Adhesion Molecule	Protein Coding	7.79	DISEASES inferred ¹⁴
16	PSEN1	Presenilin 1	Protein Coding	7.58	DISEASES inferred ¹⁴
17	APOE	Apolipoprotein E	Protein Coding	7.3	DISEASES inferred ¹⁴
18	HOXD13	Homeobox D13	Protein Coding	7.3	DISEASES inferred ¹⁴
19	PSEN2	Presenilin 2	Protein Coding	7.22	DISEASES inferred ¹⁴
20	BACE1	Beta-Secretase 1	Protein Coding	7.17	DISEASES inferred ¹⁴
21	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.14	DISEASES inferred ¹⁴
22	MAPT	Microtubule Associated Protein Tau	Protein Coding	7.13	DISEASES inferred ¹⁴
23	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	7.1	DISEASES inferred ¹⁴
24	MIR24-1	MicroRNA 24-1	RNA Gene	7.08	DISEASES inferred ¹⁴ ¹⁴
25	KDM4C	Lysine Demethylase 4C	Protein Coding	7.06	DISEASES inferred ¹⁴ ¹⁴
26	ETS2	ETS Proto-Oncogene 2, Transcription Factor	Protein Coding	7.03	DISEASES inferred ¹⁴
27	CRLF2	Cytokine Receptor Like Factor 2	Protein Coding	6.94	DISEASES inferred ¹⁴
28	BACE2	Beta-Secretase 2	Protein Coding	6.9	DISEASES inferred ¹⁴
29	SOD1	Superoxide Dismutase 1	Protein Coding	6.9	DISEASES inferred ¹⁴
30	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	6.89	DISEASES inferred ¹⁴
31	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	6.87	DISEASES inferred ¹⁴
32	KCNJ6	Potassium Inwardly Rectifying Channel Subfamily J Member 6	Protein Coding	6.86	DISEASES inferred ¹⁴
33	MIR126	MicroRNA 126	RNA Gene	6.86	DISEASES inferred ¹⁴ ¹⁴
34	SYNJ1	Synaptojanin 1	Protein Coding	6.84	DISEASES inferred ¹⁴
35	P2RY8	P2Y Receptor Family Member 8	Protein Coding	6.81	DISEASES inferred ¹⁴
36	CRELD1	Cysteine Rich With EGF Like Domains 1	Protein Coding	6.78	DISEASES inferred ¹⁴
37	S100B	S100 Calcium Binding Protein B	Protein Coding	6.77	DISEASES inferred ¹⁴
38	FRAS1	Fraser Extracellular Matrix Complex Subunit 1	Protein Coding	6.75	DISEASES inferred ¹⁴
39	VPS26C	VPS26 Endosomal Protein Sorting Factor C	Protein Coding	6.72	DISEASES inferred ¹⁴
40	LMBR1	Limb Development Membrane Protein 1	Protein Coding	6.71	DISEASES inferred ¹⁴
41	SNCA	Synuclein Alpha	Protein Coding	6.7	DISEASES inferred ¹⁴
42	ITSN1	Intersectin 1	Protein Coding	6.68	DISEASES inferred ¹⁴
43	PLAC4	Placenta Enriched 4	RNA Gene	6.68	DISEASES inferred ¹⁴
44	TTC3	Tetratricopeptide Repeat Domain 3	Protein Coding	6.66	DISEASES inferred ¹⁴
45	CBS	Cystathionine Beta-Synthase	Protein Coding	6.63	DISEASES inferred ¹⁴
46	SHOX	Short Stature Homeobox	Protein Coding	6.62	DISEASES inferred ¹⁴
47	ETV6	ETS Variant Transcription Factor 6	Protein Coding	6.61	DISEASES inferred ¹⁴
48	FREM2	FRAS1 Related Extracellular Matrix 2	Protein Coding	6.61	DISEASES inferred ¹⁴
49	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	6.6	DISEASES inferred ¹⁴
50	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	6.58	DISEASES inferred ¹⁴

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Variations for Chromosomal Duplication Syndrome

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Expression for Chromosomal Duplication Syndrome

Search GEO for disease gene expression data for Chromosomal Duplication Syndrome.

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Pathways for Chromosomal Duplication Syndrome

Pathways related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Alzheimer's disease and miRNA effects ⁷⁴ Show member pathways Alzheimer's disease ⁷⁴	12.58	PSEN2 PSEN1 BACE1 APP APOE
2	Neuroscience ³	12.27	PSEN2 PSEN1 DYRK1A BACE1 APP APOE
3	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) ⁶⁶ Show member pathways Post-translational protein phosphorylation ⁶⁶	12.1	PAPPA APP APOE AFP
4	Presenilin-Mediated Signaling ⁶⁴	11.82	PSEN2 PSEN1 BACE1 APP
5	Notch Signaling Pathways ⁶⁵	11.65	PSEN2 PSEN1 DYRK1A
6	DYRK1A ⁷⁴	11.42	PSEN1 DYRK1A BACE1 APP
7	Alzheimers Disease Pathway ⁶⁴	10.67	PSEN2 PSEN1 BACE1 APP APOE
8	A-beta Plaque Formation and APP Metabolism ⁶⁵	10.62	PSEN2 PSEN1 BACE1 APP
9	Inclusion body myositis ⁷⁴	10.33	PSEN2 PSEN1 BACE1
10	Notch Pathway ⁷⁰	10.1	PSEN2 PSEN1

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GO Terms for Chromosomal Duplication Syndrome

Cellular components related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	early endosome	GO:0005769	9.97	PSEN2 PSEN1 BACE1 APP APOE
2	growth cone	GO:0030426	9.8	PSEN2 PSEN1 DSCAM APP
3	synaptic vesicle	GO:0008021	9.76	PSEN2 PSEN1 BACE1 APP
4	gamma-secretase complex	GO:0070765	9.67	PSEN2 PSEN1
5	dendritic shaft	GO:0043198	9.43	PSEN2 PSEN1 APP
6	ciliary rootlet	GO:0035253	9.1	PSEN2 PSEN1 APP

Biological processes related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of gene expression	GO:0010629	10.11	PSEN1 MIR9-1 MIR155 APP APOE
2	response to oxidative stress	GO:0006979	10.02	RCAN1 PSEN1 APP APOE
3	cellular response to amyloid-beta	GO:1904646	9.97	PSEN1 BACE1 APP
4	positive regulation of phosphorylation	GO:0042327	9.88	PSEN1 DSCAM APP
5	membrane protein ectodomain proteolysis	GO:0006509	9.85	BACE1 PSEN1 PSEN2
6	astrocyte activation involved in immune response	GO:0002265	9.76	PSEN1 APP
7	amyloid precursor protein catabolic process	GO:0042987	9.73	PSEN2 PSEN1 BACE1
8	amyloid-beta metabolic process	GO:0050435	9.63	PSEN2 PSEN1 BACE1
9	smooth endoplasmic reticulum calcium ion homeostasis	GO:0051563	9.62	PSEN1 APP
10	regulation of epidermal growth factor-activated receptor activity	GO:0007176	9.61	PSEN1 APP
11	negative regulation of low-density lipoprotein receptor activity	GO:1905598	9.52	PSEN1 APP
12	positive regulation of amyloid fibril formation	GO:1905908	9.43	PSEN1 APP APOE
13	amyloid-beta formation	GO:0034205	9.23	PSEN2 PSEN1 DYRK1A BACE1

Molecular functions related to Chromosomal Duplication Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	endopeptidase activity	GO:0004175	9.5	PSEN2 PSEN1 PAPPA BACE1
2	aspartic endopeptidase activity, intramembrane cleaving	GO:0042500	9.46	PSEN2 PSEN1
3	aspartic-type endopeptidase activity	GO:0004190	9.02	PSEN2 PSEN1 BACE1

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Sources for Chromosomal Duplication Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: CHR569 MIFTS: 24	Chromosomal Duplication Syndrome Categories: Genetic diseases	Data Licensing For inquiries, contact: [email protected]
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