MCID: CHR178
MIFTS: 35

Chromosomal Triplication

Categories: Rare diseases

Aliases & Classifications for Chromosomal Triplication

MalaCards integrated aliases for Chromosomal Triplication:

Name: Chromosomal Triplication 52
Trisomy 71

Classifications:



External Ids:

UMLS 71 C0041107

Summaries for Chromosomal Triplication

MalaCards based summary : Chromosomal Triplication, also known as trisomy, is related to trisomy 22 and mixed ductal-endocrine carcinoma. An important gene associated with Chromosomal Triplication is PAPPA (Pappalysin 1), and among its related pathways/superpathways are NF-KappaB Family Pathway and NF-kB (NFkB) Pathway. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include testes, myeloid and b cells, and related phenotypes are Increased shRNA abundance and Reduced mammosphere formation

Wikipedia : 74 A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead... more...

Related Diseases for Chromosomal Triplication

Graphical network of the top 20 diseases related to Chromosomal Triplication:



Diseases related to Chromosomal Triplication

Symptoms & Phenotypes for Chromosomal Triplication

GenomeRNAi Phenotypes related to Chromosomal Triplication according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.13 AFP BCL3 CGB3
2 Reduced mammosphere formation GR00396-S 8.92 AFP BCL3 KMT2A ZAP70

Drugs & Therapeutics for Chromosomal Triplication

Drugs for Chromosomal Triplication (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 129)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3 Neurotransmitter Agents Phase 4
4 Dopamine Agents Phase 4
5 Antiparkinson Agents Phase 4
6 Excitatory Amino Acid Antagonists Phase 4
7 Excitatory Amino Acids Phase 4
8 Protein Kinase Inhibitors Phase 4
9 Imatinib Mesylate Phase 4 220127-57-1 123596
10
leucovorin Approved Phase 3 58-05-9 6006 143
11
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
13
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
14
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
15
Daunorubicin Approved Phase 3 20830-81-3 30323
16
Mercaptopurine Approved Phase 3 50-44-2 667490
17
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
18
Thioguanine Approved Phase 3 154-42-7 2723601
19
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
20
Pegaspargase Approved, Investigational Phase 3 130167-69-0
21
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
22
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
23
Chlorambucil Approved Phase 3 305-03-3 2708
24
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
25
Fludarabine Approved Phase 3 21679-14-1, 75607-67-9 30751
26
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
27 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
28
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
29
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
30
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
31
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
32
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
33 Vitamins Phase 3
34 Trace Elements Phase 3
35 Nutrients Phase 3
36 Hematinics Phase 3
37 Micronutrients Phase 3
38 Antimetabolites Phase 3
39 Antiviral Agents Phase 3
40 Anti-Infective Agents Phase 3
41 Vitamin B Complex Phase 3
42 Vitamin B9 Phase 3
43 Folate Phase 3
44 Protective Agents Phase 3
45 Antidotes Phase 3
46 Antimitotic Agents Phase 3
47 Immunosuppressive Agents Phase 3
48 Folic Acid Antagonists Phase 3
49 Antiemetics Phase 3
50 Anti-Bacterial Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 111)
# Name Status NCT ID Phase Drugs
1 A Sixteen-Week, Randomized, Double Blind, Placebo-Controlled Evaluation of the Efficacy, Tolerability and Safety of Memantine Hydrochloride on Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
2 Are the Secondary Chromosome Abnormalities Seen in Chronic Myeloid Leukemia (CML) Cells Induced to Ph-Chromosome Negativity by Imatinib a Result of Chromosome Instability or a Side Effect of the Therapy - a Study in GIST (Gastrointestinal Stromal Cell Tumors) Patients Treated With Imatinib. Terminated NCT00461929 Phase 4
3 Randomized Clinical Trial to Evaluate the Efficacy of High Dose of Folic Acid to Prevent the Occurrence of Congenital Malformations Unknown status NCT01244347 Phase 3 folic acid;folic acid
4 ALINC #17 Treatment for Patients With Low Risk Acute Lymphoblastic Leukemia: A Pediatric Oncology Group Phase III Study Completed NCT00005585 Phase 3 cyclophosphamide;cytarabine;daunorubicin hydrochloride;dexamethasone;leucovorin calcium;mercaptopurine;methotrexate;pegaspargase;thioguanine;vincristine sulfate
5 Chronic Lymphocytic Leukemia Trial 4: A Randomized Comparison of Chlorambucil, Fludarabine and Fludarabine Plus Cyclophosphamide Completed NCT00004218 Phase 3 chlorambucil;cyclophosphamide;doxorubicin hydrochloride;fludarabine phosphate;prednisolone;vincristine sulfate
6 Standard Risk B-precursor Acute Lymphoblastic Leukemia (ALL) Completed NCT00103285 Phase 3 doxorubicin hydrochloride;cytarabine;dexamethasone;pegaspargase;methotrexate;leucovorin calcium;mercaptopurine;cyclophosphamide;thioguanine;vincristine sulfate
7 Comparison of Single Embryo Transfer With and Without Previous Analysis of All Chromosome Abnormalities Using Microarrays Terminated NCT01332643 Phase 3
8 Efficacy of the Addition of Silver Nanoparticles to a Fluor Varnish in the Remineralization of Temporary Teeth in Patients With Trisomy 21. Randomized Clinical Trial. Unknown status NCT01975545 Phase 2 Fluor varnish;Fluor varnish with nanoparticles
9 A Clinical Research Consortium (CRC) Phase II Study of Subcutaneous Campath-1H in Patients With B-Cell Chronic Lymphocytic Leukemia and Residual Disease After Chemotherapy Unknown status NCT00800943 Phase 2
10 A Phase 2, Single-Arm Study To Assess The Efficacy and Safety Of 72-Hour Continuous Intravenous Dosing Of ON 01910.Na Administered Every Other Week in Myelodysplastic Syndrome Patients With Trisomy 8 or Classified as Intermediate-1, 2 or High Risk Completed NCT00906334 Phase 2 ON 01910.Na;ON 01910.Na
11 A Phase II, Multicenter, Single-arm Study to Assess the Efficacy and Safety of Oral Rigosertib in Transfusion-dependent Low or Intermediate-1 (Any Cytogenetics) or Trisomy 8 Intermediate-2 Myelodysplastic Syndrome Patients Based on IPSS Classification Completed NCT01584531 Phase 2 rigosertib
12 A 10-Week, Double-Blind, Placebo-Controlled Study To Evaluate The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In The Treatment Of The Cognitive Dysfunction Exhibited By Children With Down Syndrome Completed NCT00570128 Phase 2 Donepezil hydrochloride;Placebo
13 Lenalidomide Following Rituximab and Fludarabine in Untreated Chronic Lymphocytic Leukemia Completed NCT00860457 Phase 2 Rituximab;Fludarabine;Lenalidomide
14 Nicotinic Treatment of Age-Related Cognitive Decline in Down Syndrome: An Open Label Pilot Trial Recruiting NCT01778946 Phase 1, Phase 2 Low Dose Nicotine (7mg);Moderate Dose Nicotine (14mg)
15 An Open Label Pilot Trial of Erlotinib (Tarceva) in Primary Sclerosing Cholangitis With Trisomy 7 Completed NCT00955149 Phase 1 Erlotinib (Tarceva)
16 A Pilot Study of the Safety and Activity of Escalating Doses of ON 01910.Na in Patients With RAEB-1 AND RAEB-2 Myelodysplastic Syndrome (MDS) and AML With Trisomy 8 Completed NCT00533416 Phase 1 ON 01910 Na
17 Non-Invasive Chromosomal Evaluation of Trisomy Study Unknown status NCT02201862
18 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
19 Clinical Validation of the ISET Method for the Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Trophoblastic Cells Unknown status NCT01725438
20 Non-invasive Screening of Fetal Trisomy 21 by Digital PCR Unknown status NCT03687866
21 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234
22 Non Invasive Prenatal Testing of Down Syndrome From Maternal Blood Sample Unknown status NCT02127515
23 Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom Unknown status NCT02872948
24 Collection of Whole Blood Specimens From Pregnant Women at Increased Risk of Fetal Chromosomal Abnormality for Use in Development of a Noninvasive Prenatal Test in the Detection of the Relative Quantity of Chromosomal Material in Circulating Cell-Free DNA Extracted From Maternal Plasma Unknown status NCT01429389
25 Noninvasive Screening for Fetal Chromosomal Aneuploidy and Abnormality: Assay Development & Optimization in Affected Pregnancies Unknown status NCT01052688
26 A Clinical Trial to Explore a New Prenatal Screening and Diagnosis Pattern for Fetal Chromosomal Abnormalities With Dried Blood Spots and Cell-free Fetal DNA. Unknown status NCT01837979
27 THE EFFECT OF COQ10 SUPPLEMENTATION ON FOLLICULAR CELLS' BIOLOGY/PROPERTIES IN ELDERLY IVF PATIENTS Unknown status NCT02010164
28 NON-INVASIVE PRENATAL TESTING (NIPT) OF FETAL SINGLE-GENE DISORDERS IN MATERNAL BLOOD Unknown status NCT02339402
29 Detection of Risk Factors for Fetal Anomalies in a Rural Hospital Population Unknown status NCT01662596
30 Preimplantation Genetic Screening (PGS) Using Microarray Technique: Method to Select the Embryo With the Greatest Chance for Successful Implantation During in Vitro Fertilization in Couples With a History of Unsuccessful IVF Attempts Unknown status NCT02265614
31 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
32 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278874
33 Development of Non-invasive Prenatal Diagnostic Test for Multiple Gestation Pregnancies Based on Fetal DNA Isolated From Maternal Blood Completed NCT02278536
34 A Prospective, Multi-center Observational Study With Blinded, Nested Case:Control Analyses to Evaluate the Performance of the Verinata Health Prenatal Aneuploidy Diagnostic Test Completed NCT01122524
35 Non-invasive Chromosomal Examination of Trisomy Completed NCT01511458
36 A Clinical Study to Evaluate the Clinical Performance of the SEQureDx Trisomy 21 Test in the Detection of the Relative Quantity of Chromosome 21 in Circulating Cell-Free DNA Extracted From a Maternal Blood Sample Obtained From Pregnant Women With One or More High Risk Indicators for Fetal Chromosome 21 Aneuploidy Completed NCT01555346
37 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00847990
38 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA CENTAUR® PREGNANCY ASSOCIATED PLASMA PROTEIN A and ADVIA Centaur® Free Beta Human Chorionic Gonadotropin ASSAYS Completed NCT03629795
39 Investigational Study of a Prenatal Diagnostic Test for Fetal Aneuploidy Completed NCT01256606
40 A Clinical Study to Evaluate the Relative Clinical Specificity Performance of the SEQureDx Trisomy Test in Pregnant Women at Low Risk for Fetal Chromosomal Aneuploidy Completed NCT01597063
41 Performance of the Verinata Health Prenatal Aneuploidy Test Compared to Current Fetal Aneuploidy Screening Results and Pregnancy Outcomes in an 'All‐Risk' Population Completed NCT01663350
42 Fetal Aneuploidies Screening (21,18 and 13) by Cell Free Fetal DNA Analysis. Pilot Study in Low Risk Population and Pregnant Women After in Vitro Fertilisation (IFV) Completed NCT02424474
43 Development of Non-invasive Prenatal Test for Microdeletion/Duplication and Other Genetic Syndromes Based on Fetal DNA Isolated From Maternal Blood Completed NCT02109770
44 Epidemiological Study of Trisomy 21 With Research of Correlations Between Phenotype (Physical, Psychometrical) and Genotype (Genome, Transcriptome, Proteome) Completed NCT01034280
45 Case Report: Resolution of Pulmonary Hypertension With Sildenafil and Bosentan in Patients With Trisomy 21 and Atrial Septal Defect Completed NCT00478296
46 Can Increased Body Mass Index Prevent Adequate Ultrasound Examination for Trisomy 21 Risk Assessment? Completed NCT02443597
47 Trisomy of Chromosome 21 Diagnosis by High Output Sequencing of Foetal Circulating DNA in Mother Blood at First Trimester of Pregnancy. Completed NCT01118507
48 The RNA (RNA-Based Noninvasive Aneuploidy) Study Completed NCT00877292
49 Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00971334
50 DNAFirst: Primary Screening for Down Syndrome by Maternal Plasma DNA Completed NCT01966991

Search NIH Clinical Center for Chromosomal Triplication

Genetic Tests for Chromosomal Triplication

Anatomical Context for Chromosomal Triplication

MalaCards organs/tissues related to Chromosomal Triplication:

40
Testes, Myeloid, B Cells, Bone, Heart, Brain, T Cells

Publications for Chromosomal Triplication

Articles related to Chromosomal Triplication:

(show top 50) (show all 17138)
# Title Authors PMID Year
1
Cytogenetic manifestation of chromosome 11 duplication/amplification in acute myeloid leukemia. 54 61
20471515 2010
2
Marginal zone lymphomas in children and the young adult population; characterization of genetic aberrations by FISH and RT-PCR. 54 61
20305621 2010
3
Insulin-like growth factor receptor 1 (IGF1R) gene copy number is associated with survival in operable non-small-cell lung cancer: a comparison between IGF1R fluorescent in situ hybridization, protein expression, and mRNA expression. 54 61
20351332 2010
4
Prenatal sonographic features of fetuses in trisomy 13 pregnancies. IV. 54 61
20466286 2010
5
Multiplex ligation-dependent probe amplification versus multiprobe fluorescence in situ hybridization to detect genomic aberrations in chronic lymphocytic leukemia: a tertiary center experience. 54 61
20093390 2010
6
Most morphologic features in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) do not reliably predict underlying FISH genetics or immunoglobulin heavy chain variable region somatic mutational status. 54 61
19826250 2010
7
Splenic marginal zone lymphoma: characterization of 7q deletion and its value in diagnosis. 54 61
20077527 2010
8
Maternal serum human placental growth hormone at 11 to 13 weeks in trisomy 21 and trisomy 18 pregnancies. 54 61
20101668 2010
9
[Chromosome study on chronic lymphocytic leukemia using CpG-oligodeoxynucleotide as immunostimulant agent]. 54 61
20140876 2010
10
Maternal serum placental protein 13 at eleven to thirteen weeks in chromosomally abnormal pregnancies. 54 61
20332643 2010
11
Maternal serum screening marker levels in women with a previous aneuploidy pregnancy. 54 61
19842139 2009
12
Karyotype-specific microRNA signature in chronic lymphocytic leukemia. 54 61
19717645 2009
13
Human chorionic gonadotropin tests. 54 61
19817556 2009
14
[Clinicopathologic characteristics and chromosomal abnormalities in salivary mucosa associated lymphoid tissue lymphomas]. 54 61
19961773 2009
15
High-resolution analysis of aberrant regions in autosomal chromosomes in human leukemia THP-1 cell line. 54 61
19635138 2009
16
Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach. 54 61
19145201 2009
17
Maternal serum ADAM12 (A disintegrin and metalloprotease) in chromosomally abnormal pregnancy at 11-13 weeks. 54 61
19285649 2009
18
Prognostic impact of chromosome alterations detected by FISH in Turkish patients with B-cell chronic lymphocytic leukemia. 54 61
19100507 2009
19
Gene expression profiling of pulmonary mucosa-associated lymphoid tissue lymphoma identifies new biologic insights with potential diagnostic and therapeutic applications. 54 61
18974375 2009
20
Panhandle PCR approaches to cloning MLL genomic breakpoint junctions and fusion transcript sequences. 54 61
19277575 2009
21
Human chorionic gonadotropin and associated molecules. 54 61
19099349 2009
22
First-trimester uterine artery Doppler and serum pregnancy-associated plasma protein-a in preeclampsia and chromosomal defects. 54 61
19776597 2009
23
Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. 54 61
19031473 2009
24
[Primary ocular adnexal lymphoproliferative lesions: clinicopathologic features and genetic alterations]. 54 61
19159526 2008
25
Second-trimester Down syndrome maternal serum marker screening: a prospective study of 11 040 twin pregnancies. 54 61
19003979 2008
26
Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes. 54 61
18925961 2008
27
Screening for trisomies 21, 18 and 13 by maternal age, fetal nuchal translucency, fetal heart rate, free beta-hCG and pregnancy-associated plasma protein-A. 54 61
18544579 2008
28
Screening for trisomy 18 by maternal age, fetal nuchal translucency, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. 54 61
18726925 2008
29
Cooperation of Gata3, c-Myc and Notch in malignant transformation of double positive thymocytes. 54 61
18471881 2008
30
RUNX1 DNA-binding mutations and RUNX1-PRDM16 cryptic fusions in BCR-ABL+ leukemias are frequently associated with secondary trisomy 21 and may contribute to clonal evolution and imatinib resistance. 54 61
18202228 2008
31
Molecular allelokaryotyping of early-stage, untreated chronic lymphocytic leukemia. 54 61
18246537 2008
32
Multicenter study of ZAP-70 expression in patients with B-cell chronic lymphocytic leukemia using an optimized flow cytometry method. 54 61
18223290 2008
33
Combined molecular biological and molecular cytogenetic analysis of genomic changes in 146 patients with B-cell chronic lymphocytic leukemia. 54 61
18665750 2008
34
Human placental development is impaired by abnormal human chorionic gonadotropin signaling in trisomy 21 pregnancies. 54 61
17690166 2007
35
Numerical gain and structural rearrangements of JAK2, identified by FISH, characterize both JAK2617V>F-positive and -negative patients with Ph-negative MPD, myelodysplasia, and B-lymphoid neoplasms. 54 61
17976519 2007
36
Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed type. 54 61
17639583 2007
37
Cytogenetic analyses in 81 patients with brain gliomas: correlation with clinical outcome and morphological data. 54 61
17569001 2007
38
ADAM12 as a marker of trisomy 18 in the first and second trimester of pregnancy. 54 61
17701664 2007
39
Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients. 54 61
17650443 2007
40
Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia. 54 61
17485549 2007
41
CD34 cells from patients with trisomy 8 myelodysplastic syndrome (MDS) express early apoptotic markers but avoid programmed cell death by up-regulation of antiapoptotic proteins. 54 61
17090657 2007
42
Aneuploidy screening in the first trimester. 54 61
17290444 2007
43
Cytogenetic abnormalities in MALT lymphomas and their precursor lesions from different organs. A fluorescence in situ hybridization (FISH) study. 54 61
17222250 2007
44
Subtelomeric trisomy 21q: a new benign chromosomal variant. 54 61
17055792 2007
45
Chronic lymphocytic leukemia: current and emerging treatment approaches. 54 61
17143256 2006
46
Genetic abnormalities and clinical outcome in chronic lymphocytic leukemia. 54 61
17074592 2006
47
Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation. 54 61
16873677 2006
48
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome. 54 61
16891409 2006
49
Characterization and gene expression profiling of five new human embryonic stem cell lines derived in Taiwan. 54 61
16978057 2006
50
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. 54 61
16554754 2006

Variations for Chromosomal Triplication

Copy number variations for Chromosomal Triplication from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 300709 13 27800000 52200000 Deletion Trisomy

Expression for Chromosomal Triplication

Search GEO for disease gene expression data for Chromosomal Triplication.

Pathways for Chromosomal Triplication

Pathways related to Chromosomal Triplication according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 ZAP70 MALT1 BCL3
2 10.48 ZAP70 MALT1

GO Terms for Chromosomal Triplication

Biological processes related to Chromosomal Triplication according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone-mediated signaling pathway GO:0009755 9.16 CGB7 CGB3
2 B cell activation GO:0042113 8.96 ZAP70 MALT1
3 female gamete generation GO:0007292 8.62 CGB7 CGB3

Sources for Chromosomal Triplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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