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

MCID: CHR569 MIFTS: 23	Chromosomal Duplication Syndrome Categories: Genetic diseases
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Aliases & Classifications for Chromosomal Duplication Syndrome

MalaCards integrated aliases for Chromosomal Duplication Syndrome:

Name: Chromosomal Duplication Syndrome ¹² ¹⁵

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060429

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Summaries for Chromosomal Duplication Syndrome

Disease Ontology : ¹² 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 Alzheimers Disease and Alzheimers Disease Pathway. Affiliated tissues include bone, heart and eye.

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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 223)

#	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	potocki-lupski syndrome	11.1
4	chromosome 3q29 duplication syndrome	11.1
5	chromosome 1q21.1 duplication syndrome	11.1
6	chromosome 5p13 duplication syndrome	11.1
7	chromosome 17p13.3, centromeric, duplication syndrome	11.1
8	chromosome 16p13.3 duplication syndrome	11.1
9	chromosome 17q21.31 duplication syndrome	11.1
10	chromosome 2q31.1 duplication syndrome	11.1
11	chromosome 17q12 duplication syndrome	11.1
12	chromosome 16p11.2 duplication syndrome	11.1
13	chromosome 22q13 duplication syndrome	11.1
14	hypogonadotropic hypogonadism	11.1
15	partial trisomy distal 4q	11.1
16	residual stage of open angle glaucoma	10.6	APP APOE
17	cystic lymphangioma	10.6	SERPINA3 PAPPA AFP
18	senile plaque formation	10.6	APP APOE
19	triploidy	10.6	PAPPA AFP
20	mast cell neoplasm	10.6	U2AF1 SERPINA3 H2AC18
21	patau syndrome	10.6	U2AF1 PAPPA AFP
22	amyloidosis, finnish type	10.6	U2AF1 SERPINA3 APOE
23	mixed cell type cancer	10.6	SERPINA3 H2AC18 AFP
24	arteriolosclerosis	10.6	SERPINA3 APP APOE
25	mature b-cell neoplasm	10.6	U2AF1 MIR9-1 MIR155 H2AC18
26	mixed hepatoblastoma	10.6	SERPINA3 AFP
27	uveal disease	10.6	U2AF1 SERPINA3 MIR9-1 H2AC18 CRYAA
28	leukemia, acute monocytic	10.6	U2AF1 MIR155 H2AC18
29	intermediate malignant teratoma	10.6	PAPPA AFP
30	leukocyte disease	10.6	U2AF1 SERPINA3 MIR155 H2AC18
31	hypersensitivity reaction type iv disease	10.6	SERPINA3 MIR155 H2AC18
32	reproductive organ benign neoplasm	10.6	SERPINA3 H2AC18 AFP
33	fatal familial insomnia	10.6	SERPINA3 PRODH APP
34	ovary epithelial cancer	10.6	U2AF1 SERPINA3 MIR9-1 H2AC18
35	cerebral amyloid angiopathy, itm2b-related, 1	10.6	SERPINA3 PSEN1 APP
36	primary bacterial infectious disease	10.6	SERPINA3 PRODH MIR155 H2AC18
37	degeneration of macula and posterior pole	10.6	SERPINA3 H2AC18 CRYAA APOE
38	parasitic protozoa infectious disease	10.6	SERPINA3 PRODH H2AC18 EPRS1
39	oropharynx cancer	10.6	SERPINA3 MIR9-1 H2AC18
40	early-onset parkinson's disease	10.6	SERPINA3 PRODH CRYAA
41	acute cystitis	10.6	SERPINA3 H2AC18 EPRS1
42	germ cell and embryonal cancer	10.6	PRODH MIR9-1 H2AC18 AFP
43	hypomyelinating leukodystrophy	10.6	SERPINA3 PRODH H2AC18 EPRS1
44	mental depression	10.6	SERPINA3 PRODH MIR24-1 H2AC18
45	amino acid metabolic disorder	10.6	SERPINA3 PRODH H2AC18 EPRS1 CRYAA
46	scrotum neoplasm	10.6	SERPINA3 AFP
47	chromosomal triplication	10.6	PAPPA AFP
48	alzheimer disease 2	10.6	SERPINA3 PSEN1 APP APOE
49	cerebral amyloid angiopathy, app-related	10.6	SERPINA3 PSEN1 APP APOE
50	rhabdoid cancer	10.6	SERPINA3 PRODH H2AC18

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

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Symptoms & Phenotypes for Chromosomal Duplication Syndrome

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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

MalaCards organs/tissues related to Chromosomal Duplication Syndrome:

⁴⁰

Bone, Heart, Eye, Pancreas, Cervix, Myeloid, Bone Marrow

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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. ⁶¹	Varon A...Walz K	31066191	2019
2	Clinical impacts of genomic copy number gains at Xq28. ⁶¹	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 70)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SERPINA3	Serpin Family A Member 3	Protein Coding	10.9	DISEASES inferred ¹⁵ ¹⁵
2	U2AF1	U2 Small Nuclear RNA Auxiliary Factor 1	Protein Coding	10.35	DISEASES inferred ¹⁵ ¹⁵
3	H2AC18	H2A Clustered Histone 18	Protein Coding	9.5	DISEASES inferred ¹⁵ ¹⁵
4	CRYAA	Crystallin Alpha A	Protein Coding	9.47	DISEASES inferred ¹⁵ ¹⁵
5	PAPPA	Pappalysin 1	Protein Coding	9.39	DISEASES inferred ¹⁵
6	MIR155	MicroRNA 155	RNA Gene	9.36	DISEASES inferred ¹⁵ ¹⁵
7	MIR9-1	MicroRNA 9-1	RNA Gene	9.16	DISEASES inferred ¹⁵ ¹⁵
8	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	9.06	DISEASES inferred ¹⁵
9	PRODH	Proline Dehydrogenase 1	Protein Coding	9.04	DISEASES inferred ¹⁵ ¹⁵
10	RCAN1	Regulator Of Calcineurin 1	Protein Coding	8.77	DISEASES inferred ¹⁵
11	APP	Amyloid Beta Precursor Protein	Protein Coding	8.7	DISEASES inferred ¹⁵
12	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	8.35	DISEASES inferred ¹⁵ ¹⁵
13	AFP	Alpha Fetoprotein	Protein Coding	8.27	DISEASES inferred ¹⁵
14	GATA1	GATA Binding Protein 1	Protein Coding	8.09	DISEASES inferred ¹⁵
15	DSCAM	DS Cell Adhesion Molecule	Protein Coding	7.95	DISEASES inferred ¹⁵
16	PSEN1	Presenilin 1	Protein Coding	7.74	DISEASES inferred ¹⁵
17	MIR24-1	MicroRNA 24-1	RNA Gene	7.72	DISEASES inferred ¹⁵ ¹⁵
18	HOXD13	Homeobox D13	Protein Coding	7.61	DISEASES inferred ¹⁵
19	MIR486-1	MicroRNA 486-1	RNA Gene	7.48	DISEASES inferred ¹⁵ ¹⁵
20	APOE	Apolipoprotein E	Protein Coding	7.43	DISEASES inferred ¹⁵
21	BACE1	Beta-Secretase 1	Protein Coding	7.33	DISEASES inferred ¹⁵
22	PSEN2	Presenilin 2	Protein Coding	7.31	DISEASES inferred ¹⁵
23	ETS2	ETS Proto-Oncogene 2, Transcription Factor	Protein Coding	7.31	DISEASES inferred ¹⁵
24	FMR1	FMRP Translational Regulator 1	Protein Coding	7.26	DISEASES inferred ¹⁵
25	VPS26C	VPS26 Endosomal Protein Sorting Factor C	Protein Coding	7.2	DISEASES inferred ¹⁵
26	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.2	DISEASES inferred ¹⁵
27	MIR126	MicroRNA 126	RNA Gene	7.17	DISEASES inferred ¹⁵ ¹⁵
28	PLAC4	Placenta Enriched 4	RNA Gene	7.14	DISEASES inferred ¹⁵
29	MAPT	Microtubule Associated Protein Tau	Protein Coding	7.13	DISEASES inferred ¹⁵
30	KCNJ6	Potassium Inwardly Rectifying Channel Subfamily J Member 6	Protein Coding	7.12	DISEASES inferred ¹⁵
31	BACE2	Beta-Secretase 2	Protein Coding	7.1	DISEASES inferred ¹⁵
32	P2RY8	P2Y Receptor Family Member 8	Protein Coding	7.09	DISEASES inferred ¹⁵
33	SOD1	Superoxide Dismutase 1	Protein Coding	7.08	DISEASES inferred ¹⁵
34	SYNJ1	Synaptojanin 1	Protein Coding	7.08	DISEASES inferred ¹⁵
35	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	7.07	DISEASES inferred ¹⁵
36	TTC3	Tetratricopeptide Repeat Domain 3	Protein Coding	7.06	DISEASES inferred ¹⁵
37	CRLF2	Cytokine Receptor Like Factor 2	Protein Coding	7.06	DISEASES inferred ¹⁵
38	CRELD1	Cysteine Rich With EGF Like Domains 1	Protein Coding	7.05	DISEASES inferred ¹⁵
39	ITSN1	Intersectin 1	Protein Coding	7.04	DISEASES inferred ¹⁵
40	FRAS1	Fraser Extracellular Matrix Complex Subunit 1	Protein Coding	7.04	DISEASES inferred ¹⁵
41	LMBR1	Limb Development Membrane Protein 1	Protein Coding	7.04	DISEASES inferred ¹⁵
42	S100B	S100 Calcium Binding Protein B	Protein Coding	7.02	DISEASES inferred ¹⁵
43	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	6.97	DISEASES inferred ¹⁵
44	MIR196A1	MicroRNA 196a-1	RNA Gene	6.91	DISEASES inferred ¹⁵ ¹⁵
45	BHLHA9	Basic Helix-Loop-Helix Family Member A9	Protein Coding	6.89	DISEASES inferred ¹⁵
46	FREM2	FRAS1 Related Extracellular Matrix 2	Protein Coding	6.88	DISEASES inferred ¹⁵
47	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	6.87	DISEASES inferred ¹⁵
48	DSCR4	Down Syndrome Critical Region 4	RNA Gene	6.82	DISEASES inferred ¹⁵
49	SIM2	SIM BHLH Transcription Factor 2	Protein Coding	6.77	DISEASES inferred ¹⁵
50	SNCA	Synuclein Alpha	Protein Coding	6.77	DISEASES inferred ¹⁵

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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	Alzheimers Disease ¹	11.1	PSEN1 MIR9-1 APP APOE
2	Alzheimers Disease Pathway ⁶³	10.79	PSEN1 APP APOE

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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	extracellular space	GO:0005615	9.56	SERPINA3 PAPPA MIR486-1 MIR24-1 MIR155 APP
2	ciliary rootlet	GO:0035253	8.62	PSEN1 APP

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to oxidative stress	GO:0006979	9.62	RCAN1 PSEN1 APP APOE
2	negative regulation of blood vessel endothelial cell migration	GO:0043537	9.61	MIR24-1 MIR155 APOE
3	dendritic cell differentiation	GO:0097028	9.55	MIR155 GATA1
4	negative regulation of long-term synaptic potentiation	GO:1900272	9.54	APP APOE
5	amyloid precursor protein metabolic process	GO:0042982	9.52	PSEN1 APOE
6	neuron projection maintenance	GO:1990535	9.51	PSEN1 APP
7	amyloid-beta formation	GO:0034205	9.49	PSEN1 DYRK1A
8	negative regulation of low-density lipoprotein receptor activity	GO:1905598	9.48	PSEN1 APP
9	modulation of age-related behavioral decline	GO:0090647	9.46	PSEN1 APP
10	positive regulation of phosphorylation	GO:0042327	9.43	PSEN1 DSCAM APP
11	regulation of epidermal growth factor-activated receptor activity	GO:0007176	9.4	PSEN1 APP
12	astrocyte activation involved in immune response	GO:0002265	9.37	PSEN1 APP
13	cellular protein metabolic process	GO:0044267	9.35	PSEN1 PAPPA APP APOE AFP
14	smooth endoplasmic reticulum calcium ion homeostasis	GO:0051563	9.16	PSEN1 APP
15	positive regulation of amyloid fibril formation	GO:1905908	8.8	PSEN1 APP APOE

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

#	Name	GO ID	Score	Top Affiliating Genes
1	growth factor receptor binding	GO:0070851	8.62	PSEN1 APP

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Sources for Chromosomal Duplication Syndrome

¹ BioSystems

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¹⁰ dbSNP

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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

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia