MCID: CHR178
MIFTS: 31

Chromosomal Triplication

Categories: Rare diseases

Aliases & Classifications for Chromosomal Triplication

MalaCards integrated aliases for Chromosomal Triplication:

Name: Chromosomal Triplication 53
Trisomy 73

Classifications:



External Ids:

UMLS 73 C0041107

Summaries for Chromosomal Triplication

MalaCards based summary : Chromosomal Triplication, also known as trisomy, is related to pancreatic cystadenocarcinoma and tuberculous epididymitis. An important gene associated with Chromosomal Triplication is KMT2A (Lysine Methyltransferase 2A), and among its related pathways/superpathways are NF-kappaB Signaling and NF-kappa B signaling pathway. The drugs Memantine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and myeloid, and related phenotypes are Reduced mammosphere formation and reproductive system

Wikipedia : 76 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 Reduced mammosphere formation GR00396-S 8.92 AFP BCL6 KMT2A ZAP70

MGI Mouse Phenotypes related to Chromosomal Triplication:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.02 AFP BCL6 CGA KMT2A PAPPA2

Drugs & Therapeutics for Chromosomal Triplication

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

(show top 50) (show all 133)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 19982-08-2 4054
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3 Dopamine Agents Phase 4
4 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
5 Excitatory Amino Acid Antagonists Phase 4
6 Excitatory Amino Acids Phase 4
7 Antiparkinson Agents Phase 4
8
leucovorin Approved Phase 3,Not Applicable 58-05-9 6006 143
9
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
10
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
11
Cytarabine Approved, Investigational Phase 3 147-94-4 6253
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
13
Thioguanine Approved Phase 3 154-42-7 2723601
14
Methotrexate Approved Phase 3 59-05-2, 1959-05-2 126941
15
Levoleucovorin Approved, Investigational Phase 3,Not Applicable 68538-85-2
16
Pegaspargase Approved, Investigational Phase 3 130167-69-0
17
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 6055-19-2, 50-18-0 2907
18
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
19
Decitabine Approved, Investigational Phase 3,Phase 2 2353-33-5 451668
20
Azacitidine Approved, Investigational Phase 3,Phase 2 320-67-2 9444
21
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
22
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
23
Daunorubicin Approved Phase 3 20830-81-3 30323
24
Etoposide Approved Phase 3 33419-42-0 36462
25
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
26
Doxil Approved June 1999 Phase 3 31703
27 Vitamin B Complex Phase 3,Not Applicable
28 Vitamin B9 Phase 3,Not Applicable
29 Vitamins Phase 3,Not Applicable
30 Micronutrients Phase 3,Not Applicable
31 Folate Phase 3,Not Applicable
32 Hematinics Phase 3,Not Applicable
33 Trace Elements Phase 3,Not Applicable
34 Antiviral Agents Phase 3,Phase 2
35
protease inhibitors Phase 3
36 Antirheumatic Agents Phase 3,Phase 2,Phase 1
37 Protective Agents Phase 3,Not Applicable
38 Bone Density Conservation Agents Phase 3
39 Nucleic Acid Synthesis Inhibitors Phase 3
40 Antiemetics Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42 Folic Acid Antagonists Phase 3
43 Hormones Phase 3
44 Autonomic Agents Phase 3,Phase 1,Phase 2
45 Dermatologic Agents Phase 3
46 Antineoplastic Agents, Phytogenic Phase 3
47 Immunosuppressive Agents Phase 3,Phase 2
48 Anti-Inflammatory Agents Phase 3
49 Immunologic Factors Phase 3,Phase 2,Phase 1
50 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 95)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
2 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
3 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed Acute Lymphoblastic Leukemia Completed NCT00103285 Phase 3 doxorubicin hydrochloride;cytarabine;dexamethasone;pegaspargase;methotrexate;leucovorin calcium;mercaptopurine;cyclophosphamide;thioguanine;vincristine sulfate
4 Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome Recruiting NCT02521493 Phase 3 Asparaginase;Asparaginase Erwinia chrysanthemi;Cytarabine;Daunorubicin Hydrochloride;Etoposide;Mitoxantrone Hydrochloride;Thioguanine
5 Controlled Study of Rigosertib Versus Physician's Choice of Treatment in MDS Patients After Failure of an HMA Recruiting NCT02562443 Phase 3 rigosertib;Any approved or standard-of-care therapy;best supportive care (BSC);best supportive care (BSC)
6 Rituximab Versus Observation as Maintenance Therapy in Chronic Lymphocytic Leukemia (Chronic Lymphocytic Leukemia) Active, not recruiting NCT01118234 Phase 3 Rituximab
7 Preimplantation Genetic Diagnosis (PGD) by Array Comparative Genome Hybridization (CGH) and Blastocyst Biopsy Terminated NCT01332643 Phase 3
8 Fluor Varnish With Silver Nanoparticles for Dental Remineralization in Patients With Trisomy 21 Unknown status NCT01975545 Phase 2 Fluor varnish;Fluor varnish with nanoparticles
9 Efficacy and Safety of Oral Rigosertib in Transfusion-dependent, Low or Int-1 or Trisomy 8 Int-2 Myelodysplastic Syndrome Completed NCT01584531 Phase 2 rigosertib
10 Efficacy and Safety of ON 01910.Na in Myelodysplastic Syndrome (MDS) Patients With Trisomy 8 or Classified as Intermediate-1, -2 or High Risk Completed NCT00906334 Phase 2 ON 01910.Na;ON 01910.Na
11 Evaluating The Efficacy And Safety Of Donepezil Hydrochloride (Aricept) In Treating Cognitive Dysfunction Exhibited By Children With Down Syndrome Completed NCT00570128 Phase 2 Donepezil hydrochloride;Placebo
12 Endoscopic Therapy of Early Cancer in Barretts Esophagus Completed NCT00217087 Phase 2
13 A Study to Assess the Efficacy of Rituximab (MabThera) in First Line Treatment of Chronic Lymphocytic Leukemia (CLL) Completed NCT00545714 Phase 2 Cyclophosphamide;Fludarabine;Rituximab
14 HuMax-CD20 in B-Cell Chronic Lymphocytic Leukemia (B-CLL) Patients Failing Fludarabine and Alemtuzumab Completed NCT00349349 Phase 2 ofatumumab
15 Akt Inhibitor MK2206, Bendamustine Hydrochloride, and Rituximab in Treating Patients With Relapsed Chronic Lymphocytic Leukemia or Small Lymphocytic Lymphoma Completed NCT01369849 Phase 1, Phase 2 Akt Inhibitor MK2206;Bendamustine Hydrochloride
16 Nicotine Treatment of Cognitive Decline in Down Syndrome Recruiting NCT01778946 Phase 1, Phase 2 Low Dose Nicotine (7mg);Moderate Dose Nicotine (14mg)
17 Phase 2 Study to Assess Activity & Safety of Front-line Ibrutinib + Rituximab in Unfit Chronic Lymphocytic Leukemia Active, not recruiting NCT02232386 Phase 2 Ibrutinib;Rituximab
18 Erlotinib for Chemoprevention in Trisomy 7 Positive Primary Sclerosing Cholangitis (PSC) Completed NCT00955149 Phase 1 Erlotinib (Tarceva)
19 Safety of ON 01910.Na in Patients With Myelodysplasia Completed NCT00533416 Phase 1 ON 01910 Na
20 Non-Invasive Chromosomal Evaluation of Trisomy Study Unknown status NCT02201862
21 Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom Unknown status NCT02872948
22 Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA Unknown status NCT01837979
23 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
24 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234 Not Applicable
25 Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies Unknown status NCT01052688
26 Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy Unknown status NCT01429389
27 Turner Syndrome Prenatal Diagnosis Study Unknown status NCT01668251
28 Non Invasive Prenatal Testing of Down Syndrome Unknown status NCT02127515 Not Applicable
29 Non-invasive Chromosomal Examination of Trisomy Study Completed NCT01511458
30 Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies Completed NCT01597063
31 Trisomy of Chromosome 21 Diagnosis by High Output Sequencing Completed NCT01118507
32 Can Increased Body Mass Index Prevent Adequate Ultrasound Examination for Trisomy 21 Risk Assessment? Completed NCT02443597
33 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Completed NCT01925742 Not Applicable
34 Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies Completed NCT01555346
35 Pulmonary Hypertension in Trisomy 21 Patients Completed NCT00478296
36 T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients Completed NCT02424474 Not Applicable
37 MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy Completed NCT01122524
38 Phase II Cont. IV of ON 01910.Na in MDS w/ Trisomy 8/Intermed-1, 2/High Risk Completed NCT00987584
39 A New Prenatal Blood Test for Down Syndrome Completed NCT00877292
40 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
41 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA Centaur PAPPA and BhCG Assays Completed NCT03629795
42 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
43 Prenatal Test for Fetal Aneuploidy Detection Completed NCT01256606
44 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
45 Correlations Phenotype / Genotype in Down Syndrome Completed NCT01034280
46 High Risk Multiple Gestation Study Completed NCT02278874
47 Obstructive Sleep Apnea and Down Syndrome: Clinical Examination Issue Completed NCT02732431 Not Applicable
48 Non-Invasive Screening for Fetal Aneuploidy Completed NCT00847990
49 Vitamins and Minerals for Children With Downs Syndrome Completed NCT00378456 Not Applicable Antioxidants- (Vitamins A,C,E Selenium and Zinc);Folinic acid;Vitamins A,C,E Selenium and Zinc and Folinic acid.;Placebo
50 Indicators of Growth, Nutritional Status and Comorbide Disorders of Newborns With Down Syndrome Completed NCT03553706

Search NIH Clinical Center for Chromosomal Triplication

Genetic Tests for Chromosomal Triplication

Anatomical Context for Chromosomal Triplication

MalaCards organs/tissues related to Chromosomal Triplication:

41
Testes, Heart, Myeloid, Placenta, Bone, Neutrophil, B Cells

Publications for Chromosomal Triplication

Articles related to Chromosomal Triplication:

(show top 50) (show all 760)
# Title Authors Year
1
The impact of trisomy 21 on treatment modalities and outcome in adults with congenital heart disease in Switzerland. ( 30338722 )
2019
2
Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression. ( 30428356 )
2018
3
Trisomy silencing by XIST normalizes Down syndrome cell pathogenesis demonstrated for hematopoietic defects in vitro. ( 30518921 )
2018
4
Prognostic impact of trisomy 21 in follicular lymphoma. ( 30417943 )
2018
5
Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report. ( 30259573 )
2018
6
Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease. ( 30291384 )
2018
7
Trisomy 18 and Congenital Heart Disease: Single-Center Review of Outcomes and Parental Perspectives. ( 30157737 )
2018
8
A Rare Case of Hemophagocytic Lymphohistiocytosis Associated With Myelodysplastic Syndrome and Trisomy 8 in a Pediatric Patient. ( 29683949 )
2018
9
Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia. ( 30368590 )
2018
10
Trisomy 3 as an acquired cytogenetic abnormality in primary acute megakaryoblastic leukemia. ( 30249908 )
2018
11
Morphological, immunophenotypic, and genetic features of chronic lymphocytic leukemia with trisomy 12: a comprehensive review. ( 29748447 )
2018
12
Chronic lymphocytic leukemia with t(14 ;18) and trisomy 12: a case report. ( 29905151 )
2018
13
A rare case of hepatosplenic γδ T-cell lymphoma expressing CD19 with ring chromosome 7 and trisomy 8. ( 30553467 )
2018
14
Pleural Mucosa-associated Lymphoid Tissue Lymphoma with Trisomy 18. ( 30449802 )
2018
15
Music therapy in a sleepless child with Pierre Robin sequence, partial trisomy 14 and partial monosomy 21. ( 30213438 )
2018
16
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. ( 30181735 )
2018
17
Myelodysplastic syndrome (MDS) with isolated trisomy 8: a type of MDS frequently associated with myeloproliferative features? A report by the Groupe Francophone des Myélodysplasies. ( 30004110 )
2018
18
Vertebral solitary bone plasmacytoma in a young adult with Trisomy 21: A case report. ( 30557097 )
2018
19
Trisomy 22 with long spina bifida occulta: A case report. ( 30278506 )
2018
20
Tissue Specificity in Trisomy 22 Mosaicism: A Tale of Caution for Interpretation of Chromosomal Microarray Results. ( 30521494 )
2018
21
Colon Cancer in an Adult with Trisomy 13. ( 30454509 )
2018
22
Two-stage approach for risk estimation of fetal trisomy 21 and other aneuploidies using computational intelligence systems. ( 28640401 )
2018
23
Chromosome 21-Encoded microRNAs (mRNAs): Impact on Down's Syndrome and Trisomy-21 Linked Disease. ( 28687876 )
2018
24
Patients' Knowledge of Prenatal Screening for Trisomy 21. ( 28707139 )
2018
25
False-Negative NIPT Result for Trisomy 21. ( 29161750 )
2018
26
A new approach of digital PCR system for non-invasive prenatal screening of trisomy 21. ( 29170101 )
2018
27
Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells. ( 29238858 )
2018
28
Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review. ( 29249015 )
2018
29
Chromosome Screening Using Noninvasive Prenatal Testing Beyond Trisomy-21: What to Screen for and Why It Matters. ( 29300981 )
2018
30
Erratum to "Effect of extended oral contraception use on the prevalence of fetal trisomy 21 in women aged at least 35 years": [Int J Gynecol Obstet 138(2017) 261-266]. ( 29313983 )
2018
31
Older mothers and increased impact of prenatal screening: stable livebirth prevalence of trisomy 21 in the Netherlands for the period 2000-2013. ( 29330546 )
2018
32
Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21. ( 29353507 )
2018
33
Re: Low-molecular-weight heparin associated with reduced fetal fraction and subsequent false- negative cell-free DNA test result for trisomy 21. ( 29417678 )
2018
34
Cell-free fetal DNA versus maternal serum screening for trisomy 21 in pregnant women with and without assisted reproduction technology: a prospective interventional study. ( 29493578 )
2018
35
Is Trisomy 21 a Risk Factor for Rapid Progression of Pulmonary Arteriopathy? - Revisiting Histopathological Characteristics Using 282 Lung Biopsy Specimens. ( 29553089 )
2018
36
Preliminary study of protein changes in trisomy 21 fetus by proteomics analysis in amniocyte. ( 29611199 )
2018
37
Hypoechoic liver in fetuses with trisomy 21. ( 29631451 )
2018
38
Prenatal reflex DNA screening for trisomy 21, 18 and 13. ( 29633889 )
2018
39
First trimester screening for major cardiac defects based on the ductus venosus flow in fetuses with trisomy 21. ( 29663466 )
2018
40
Young mothers and higher incidence of maternal meiosis-I non- disjunction: Interplay of environmental exposure and genetic alterations during halt phase in trisomy 21. ( 29702247 )
2018
41
Integrative analyses of genes and microRNA expressions in human trisomy 21 placentas. ( 29739397 )
2018
42
Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells. ( 29740474 )
2018
43
Discordant NIPT result in a viable trisomy-21 pregnancy due to prolonged contribution to cfDNA by a demised trisomy-14 cotwin. ( 29744057 )
2018
44
Downregulation of Endothelin Receptor B Contributes to Defective B Cell Lymphopoiesis in Trisomy 21 Pluripotent Stem Cells. ( 29789608 )
2018
45
Diagnosis and management of conductive hearing loss in children with trisomy 21. ( 29790248 )
2018
46
NICU management and outcomes of infants with trisomy 21 without major anomalies. ( 29795453 )
2018
47
Total hip arthroplasty in patients with Trisomy 21: Systematic review and exploratory patient level analysis. ( 29803742 )
2018
48
Non-Invasive Prenatal Testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results. ( 29804026 )
2018
49
Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan. ( 29849041 )
2018
50
Facial profile and additional features in fetuses with trisomy 21. ( 29985174 )
2018

Variations for Chromosomal Triplication

Copy number variations for Chromosomal Triplication from CNVD:

7
# CNVD ID Chromosom 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

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 B cell activation GO:0042113 8.96 MALT1 ZAP70
2 peptide hormone processing GO:0016486 8.62 CGA CGB3

Sources for Chromosomal Triplication

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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