MCID: CHR569
MIFTS: 23

Chromosomal Duplication Syndrome

Categories: Genetic diseases

Aliases & Classifications for Chromosomal Duplication Syndrome

MalaCards integrated aliases for Chromosomal Duplication Syndrome:

Name: Chromosomal Duplication Syndrome 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060429

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.

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:



Diseases related to Chromosomal Duplication Syndrome

Symptoms & Phenotypes for Chromosomal Duplication Syndrome

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

MalaCards organs/tissues related to Chromosomal Duplication Syndrome:

40
Bone, Heart, Eye, Pancreas, Cervix, Myeloid, Bone Marrow

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
31066191 2019
2
Clinical impacts of genomic copy number gains at Xq28. 61
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

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

# Super pathways Score Top Affiliating Genes
1 11.1 PSEN1 MIR9-1 APP APOE
2 10.79 PSEN1 APP APOE

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

Sources for Chromosomal Duplication Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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