MCID: CHR569
MIFTS: 24

Chromosomal Duplication Syndrome

Categories: Genetic diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Chromosomal Duplication Syndrome

MalaCards integrated aliases for Chromosomal Duplication Syndrome:

Name: Chromosomal Duplication Syndrome 11 14

Classifications:



External Ids:

Disease Ontology 11 DOID:0060429

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

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:



Diseases related to Chromosomal Duplication Syndrome

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

Drugs & Therapeutics for Chromosomal Duplication Syndrome

Search Clinical Trials, NIH Clinical Center for Chromosomal Duplication Syndrome

Genetic Tests for Chromosomal Duplication Syndrome

Anatomical Context for Chromosomal Duplication Syndrome

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
31066191 2019
2
Clinical impacts of genomic copy number gains at Xq28. 62
27081496 2014

Variations for Chromosomal Duplication Syndrome

Expression for Chromosomal Duplication Syndrome

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

Pathways for Chromosomal Duplication Syndrome

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

Sources for Chromosomal Duplication Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....