MCID: CHR178
MIFTS: 41

Chromosomal Triplication

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Chromosomal Triplication

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 Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include testes, myeloid and bone, and related phenotypes are Reduced mammosphere formation and reproductive system

Wikipedia : 77 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:

27
# 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:

47
# 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 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3 Dopamine Agents Phase 4
4 Excitatory Amino Acid Antagonists Phase 4
5 Antiparkinson Agents Phase 4
6 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
7 Excitatory Amino Acids Phase 4
8
leucovorin Approved Phase 3,Not Applicable 58-05-9 6006 143
9
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
10
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
11
Mercaptopurine Approved Phase 3 50-44-2 667490
12
Pegaspargase Approved, Investigational Phase 3 130167-69-0
13
Thioguanine Approved Phase 3 154-42-7 2723601
14
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 6055-19-2, 50-18-0 2907
15
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
16
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
17
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
18
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
19
Levoleucovorin Approved, Investigational Phase 3,Not Applicable 68538-85-2
20
Decitabine Approved, Investigational Phase 3,Phase 2 2353-33-5 451668
21
Azacitidine Approved, Investigational Phase 3,Phase 2 320-67-2 9444
22
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
23
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
24
Daunorubicin Approved Phase 3 20830-81-3 30323
25
Etoposide Approved Phase 3 33419-42-0 36462
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
27
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
28
Doxil Approved June 1999 Phase 3 31703
29 Micronutrients Phase 3,Not Applicable
30 Vitamin B9 Phase 3,Not Applicable
31 Folate Phase 3,Not Applicable
32 Trace Elements Phase 3,Not Applicable
33 Vitamins Phase 3,Not Applicable
34 Nutrients Phase 3,Not Applicable
35 Vitamin B Complex Phase 3,Not Applicable
36 Hematinics Phase 3,Not Applicable
37 Antiviral Agents Phase 3,Phase 2
38
asparaginase Phase 3
39 Antidotes Phase 3,Not Applicable
40 Anti-Inflammatory Agents Phase 3
41 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
42 Anti-Bacterial Agents Phase 3
43 HIV Protease Inhibitors Phase 3
44 Peripheral Nervous System Agents Phase 3,Phase 1,Phase 2
45 Bone Density Conservation Agents Phase 3
46
protease inhibitors Phase 3
47 Hormones Phase 3
48 Antimetabolites Phase 3,Phase 2
49 Anti-Infective Agents Phase 3,Phase 2
50 Autonomic Agents Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 102)
# 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 Multiple Gestation Study Unknown status NCT02278536
24 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
25 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234 Not Applicable
26 Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies Unknown status NCT01052688
27 Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy Unknown status NCT01429389
28 Turner Syndrome Prenatal Diagnosis Study Unknown status NCT01668251
29 Non Invasive Prenatal Testing of Down Syndrome Unknown status NCT02127515 Not Applicable
30 Non-invasive Chromosomal Examination of Trisomy Study Completed NCT01511458
31 Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies Completed NCT01597063
32 Trisomy of Chromosome 21 Diagnosis by High Output Sequencing Completed NCT01118507
33 Can Increased Body Mass Index Prevent Adequate Ultrasound Examination for Trisomy 21 Risk Assessment? Completed NCT02443597
34 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Completed NCT01925742 Not Applicable
35 Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies Completed NCT01555346
36 Pulmonary Hypertension in Trisomy 21 Patients Completed NCT00478296
37 T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients Completed NCT02424474 Not Applicable
38 MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy Completed NCT01122524
39 Phase II Cont. IV of ON 01910.Na in MDS w/ Trisomy 8/Intermed-1, 2/High Risk Completed NCT00987584
40 A New Prenatal Blood Test for Down Syndrome Completed NCT00877292
41 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
42 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
43 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA Centaur PAPPA and BhCG Assays Completed NCT03629795
44 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
45 Prenatal Test for Fetal Aneuploidy Detection Completed NCT01256606
46 High Risk Multiple Gestation Study Completed NCT02278874
47 Correlations Phenotype / Genotype in Down Syndrome Completed NCT01034280
48 Non-Invasive Screening for Fetal Aneuploidy Completed NCT00847990
49 Obstructive Sleep Apnea and Down Syndrome: Clinical Examination Issue Completed NCT02732431 Not Applicable
50 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

Search NIH Clinical Center for Chromosomal Triplication

Genetic Tests for Chromosomal Triplication

Anatomical Context for Chromosomal Triplication

MalaCards organs/tissues related to Chromosomal Triplication:

42
Testes, Myeloid, Bone, Heart, Brain, B Cells, Placenta

Publications for Chromosomal Triplication

Articles related to Chromosomal Triplication:

(show top 50) (show all 2072)
# Title Authors Year
1
A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY). ( 30689602 )
2019
2
The impact of trisomy 21 on treatment modalities and outcome in adults with congenital heart disease in Switzerland. ( 30338722 )
2019
3
A Rare Case of Hemophagocytic Lymphohistiocytosis Associated With Myelodysplastic Syndrome and Trisomy 8 in a Pediatric Patient. ( 29683949 )
2019
4
Surgical and anesthetic management for hepatectomy in two pediatric patients with trisomy 18, pulmonary hypertension, and hepatoblastoma. ( 30803146 )
2019
5
Trisomy 21 and hydrops fetalis: parvovirus B19 or transient abnormal myelopoiesis? ( 30634881 )
2019
6
Acute Myeloid Leukemia with t(8;21)(q22;q22) and Trisomy 4: A Rare Occurrence in a Female Child. ( 30899636 )
2019
7
KRAS, NRAS, and BRAF mutations are highly enriched in trisomy 12 chronic lymphocytic leukemia and are associated with shorter treatment-free survival. ( 30872781 )
2019
8
Overexpression of CD49d in trisomy 12 chronic lymphocytic leukemia patients is mediated by IRF4 through induction of IKAROS. ( 30659236 )
2019
9
Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia. ( 30368590 )
2019
10
Surgical management of giant scrotal lymphedema in morbidly obese patient with trisomy 21. ( 30911704 )
2019
11
A case report of the neurocognitive and behavioral phenotype of mosaic trisomy 14. ( 30714851 )
2019
12
Elongated conus medullaris, sacral agenesis and scoliosis- a case report of a patient with trisomy 19q and monosomy 7q. ( 30641238 )
2019
13
Micro-CT of tracheal stenosis in trisomy 21. ( 30712021 )
2019
14
Total hip arthroplasty in patients with Trisomy 21: Systematic review and exploratory patient level analysis. ( 29803742 )
2019
15
Triple play of DYRK1A kinase in cortical progenitor cells of Trisomy 21. ( 30227164 )
2019
16
Noninvasively diagnosing for fetal trisomy 21 by examining heterozygous single nucleotide polymorphisms in the placental specific genes on chromosome 21. ( 30544028 )
2019
17
Early diagnosis of trisomy 21, trisomy 18 and trisomy 13 using nuchal translucency thickness and ductus venosus blood flow waveform in West China. ( 30569178 )
2019
18
Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5-methyl-tetrahydrofolate and 5-formyl-tetrahydrofolate. ( 30667057 )
2019
19
Umbilical artery pulsatility index and half-peak systolic velocity deceleration time in fetuses with trisomy 21. ( 30741044 )
2019
20
Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society. ( 30800043 )
2019
21
Death of a Fetus With Myeloproliferative Disorder and Trisomy 21. ( 30801117 )
2019
22
Trisomy 21 in forensic autopsies: Review of a 20-year period. ( 30852413 )
2019
23
Employ ductus venous blood flow in the early detection of trisomy 21, trisomy 18, and trisomy 13: A meta-analysis. ( 30896619 )
2019
24
Cervical instability in patients with Trisomy 21: the gamble continues. ( 30908761 )
2019
25
Chromosomal microarray analysis detects trisomy 9 mosaicism in a prenatal case not revealed by conventional cytogenetic analysis of cord blood. ( 29560757 )
2019
26
Survival in double aneuploidy involving trisomy 18 and sex chromosome trisomy: A case report of a 27-month-old child and a review of the literature. ( 29732662 )
2019
27
Detection of confined placental trisomy 16 using non-invasive prenatal testing in a pregnancy associated with intrauterine growth restriction and normal karyotype. ( 30580228 )
2019
28
Solid tumor screening recommendations in trisomy 18. ( 30637956 )
2019
29
A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings. ( 30638476 )
2019
30
Attitudes of clinicians toward cardiac surgery and trisomy 18. ( 30688390 )
2019
31
Trisomy of the Short Arm of Chromosome 12 Associated with High Cardiovascular Risk: A Case Report. ( 30806948 )
2019
32
Isolated large bilateral choroid plexus cysts associated with trisomy 18. ( 30826785 )
2019
33
Partial trisomy 9 (9pter->9q22.1) and partial monosomy 14 (14pter- >14q11.2) due to paternal translocation t(9;14)(q22.1;q11.2) in a case of Dysmorphic features. ( 30881863 )
2019
34
Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20. ( 30893560 )
2019
35
Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression. ( 30428356 )
2018
36
Trisomy silencing by XIST normalizes Down syndrome cell pathogenesis demonstrated for hematopoietic defects in vitro. ( 30518921 )
2018
37
Prognostic impact of trisomy 21 in follicular lymphoma. ( 30417943 )
2018
38
Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report. ( 30259573 )
2018
39
Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease. ( 30291384 )
2018
40
Trisomy 18 and Congenital Heart Disease: Single-Center Review of Outcomes and Parental Perspectives. ( 30157737 )
2018
41
Trisomy 3 as an acquired cytogenetic abnormality in primary acute megakaryoblastic leukemia. ( 30249908 )
2018
42
Mutational and cytogenetic analyses of 188 CLL patients with trisomy 12: A retrospective study from the French Innovative Leukemia Organization (FILO) working group. ( 30203893 )
2018
43
Morphological, immunophenotypic, and genetic features of chronic lymphocytic leukemia with trisomy 12: a comprehensive review. ( 29748447 )
2018
44
Chronic lymphocytic leukemia with t(14 ;18) and trisomy 12: a case report. ( 29905151 )
2018
45
A rare case of hepatosplenic γδ T-cell lymphoma expressing CD19 with ring chromosome 7 and trisomy 8. ( 30553467 )
2018
46
Pleural Mucosa-associated Lymphoid Tissue Lymphoma with Trisomy 18. ( 30449802 )
2018
47
Music therapy in a sleepless child with Pierre Robin sequence, partial trisomy 14 and partial monosomy 21. ( 30213438 )
2018
48
A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review. ( 30181735 )
2018
49
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
50
Acute myeloid leukemia (AML) with t(7;12)(q36;p13) is associated with infancy and trisomy 19: Data from Nordic Society for Pediatric Hematology and Oncology (NOPHO-AML) and review of the literature. ( 29569294 )
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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