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 159)
# 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 Excitatory Amino Acid Antagonists Phase 4
4 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
5 Dopamine Agents Phase 4
6 Excitatory Amino Acids Phase 4
7 Antiparkinson Agents Phase 4
8
leucovorin Approved Phase 3,Not Applicable 58-05-9 143 6006
9
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
10
Pegaspargase Approved, Investigational Phase 3 130167-69-0
11
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
12
Mercaptopurine Approved Phase 3 50-44-2 667490
13
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
14
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
15
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
16
Thioguanine Approved Phase 3 154-42-7 2723601
17
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
18
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
19
Levoleucovorin Approved, Investigational Phase 3,Not Applicable 68538-85-2
20
Azacitidine Approved, Investigational Phase 3,Phase 2 320-67-2 9444
21
Decitabine Approved, Investigational Phase 3,Phase 2 2353-33-5 451668
22
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
23
Etoposide Approved Phase 3 33419-42-0 36462
24
Daunorubicin Approved Phase 3 20830-81-3 30323
25
Mitoxantrone Approved, Investigational Phase 3 65271-80-9 4212
26
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
27
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
28
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
29
Ichthammol Approved Phase 3 8029-68-3
30
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
31
Blinatumomab Approved, Investigational Phase 3 853426-35-4
32
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
33
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
34
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
36
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
37
Doxil Approved June 1999 Phase 3 31703
38 Visilizumab Investigational Phase 3 219716-33-3
39
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
40
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
41
Cortisone Experimental Phase 3 53-06-5 222786
42 Vitamins Phase 3,Not Applicable
43 Vitamin B Complex Phase 3,Not Applicable
44 Trace Elements Phase 3,Not Applicable
45 Folate Phase 3,Not Applicable
46 Micronutrients Phase 3,Not Applicable
47 Nutrients Phase 3,Not Applicable
48 Hematinics Phase 3,Not Applicable
49 Vitamin B9 Phase 3,Not Applicable
50 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 103)
# 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 Blinatumomab in Combination With Chemotherapy in Treating Patients With or Without Down Syndrome and Newly Diagnosed, Standard Risk B-Lymphoblastic Leukemia or Localized B-Lymphoblastic Lymphoma Not yet recruiting NCT03914625 Phase 3 Asparaginase Erwinia chrysanthemi;Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin;Doxorubicin Hydrochloride;Leucovorin;Leucovorin Calcium;Mercaptopurine;Mercaptopurine Oral Suspension;Methotrexate;Prednisolone;Prednisone;Thioguanine;Vincristine;Vincristine Sulfate
8 Preimplantation Genetic Diagnosis (PGD) by Array Comparative Genome Hybridization (CGH) and Blastocyst Biopsy Terminated NCT01332643 Phase 3
9 Fluor Varnish With Silver Nanoparticles for Dental Remineralization in Patients With Trisomy 21 Unknown status NCT01975545 Phase 2 Fluor varnish;Fluor varnish with nanoparticles
10 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
11 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
12 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
13 Endoscopic Therapy of Early Cancer in Barretts Esophagus Completed NCT00217087 Phase 2
14 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
15 HuMax-CD20 in B-Cell Chronic Lymphocytic Leukemia (B-CLL) Patients Failing Fludarabine and Alemtuzumab Completed NCT00349349 Phase 2 ofatumumab
16 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
17 Nicotine Treatment of Cognitive Decline in Down Syndrome Recruiting NCT01778946 Phase 1, Phase 2 Low Dose Nicotine (7mg);Moderate Dose Nicotine (14mg)
18 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
19 Erlotinib for Chemoprevention in Trisomy 7 Positive Primary Sclerosing Cholangitis (PSC) Completed NCT00955149 Phase 1 Erlotinib (Tarceva)
20 Safety of ON 01910.Na in Patients With Myelodysplasia Completed NCT00533416 Phase 1 ON 01910 Na
21 Non-Invasive Chromosomal Evaluation of Trisomy Study Unknown status NCT02201862
22 Diagnosis Accuracy of Noninvasive Screening by PCR Digital for Down Syndrom Unknown status NCT02872948
23 Down Syndrome Screening Based on Dried Blood Spots and Cell-free Fetal DNA Unknown status NCT01837979
24 Multiple Gestation Study Unknown status NCT02278536
25 Non-Invasive Determination of Fetal Chromosome Abnormalities Unknown status NCT00891852
26 Oxygen Insuflation and ArterialDesaturation During Tracheal Intubation in Children Unknown status NCT01664234 Not Applicable
27 Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies Unknown status NCT01052688
28 Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy Unknown status NCT01429389
29 Turner Syndrome Prenatal Diagnosis Study Unknown status NCT01668251
30 Non Invasive Prenatal Testing of Down Syndrome Unknown status NCT02127515 Not Applicable
31 Non-invasive Chromosomal Examination of Trisomy Study Completed NCT01511458
32 Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies Completed NCT01597063
33 Trisomy of Chromosome 21 Diagnosis by High Output Sequencing Completed NCT01118507
34 Can Increased Body Mass Index Prevent Adequate Ultrasound Examination for Trisomy 21 Risk Assessment? Completed NCT02443597
35 Study of the Efficacy of New Non-invasive Prenatal Tests for Screening for Fetal Trisomies Using Maternal Blood Completed NCT01925742 Not Applicable
36 Clinical Evaluation of the SEQureDx T21 Test In High Risk Pregnancies Completed NCT01555346
37 Pulmonary Hypertension in Trisomy 21 Patients Completed NCT00478296
38 T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients Completed NCT02424474 Not Applicable
39 MatErnal BLood IS Source to Accurately Diagnose Fetal Aneuploidy Completed NCT01122524
40 Phase II Cont. IV of ON 01910.Na in MDS w/ Trisomy 8/Intermed-1, 2/High Risk Completed NCT00987584
41 A New Prenatal Blood Test for Down Syndrome Completed NCT00877292
42 Prenatal Screening for Down Syndrome With DNAFirst Completed NCT01966991
43 Expanded Noninvasive Genomic Medical Assessment: The Enigma Study Completed NCT02787486
44 Serum Sample Collection to Determine Analytical Performance Characteristics of the ADVIA Centaur PAPPA and BhCG Assays Completed NCT03629795
45 Non-Invasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker Completed NCT00770458
46 Prenatal Test for Fetal Aneuploidy Detection Completed NCT01256606
47 High Risk Multiple Gestation Study Completed NCT02278874
48 Correlations Phenotype / Genotype in Down Syndrome Completed NCT01034280
49 Non-Invasive Screening for Fetal Aneuploidy Completed NCT00847990
50 Obstructive Sleep Apnea and Down Syndrome: Clinical Examination Issue Completed NCT02732431 Not Applicable

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 2998)
# 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
Successful Treatment of an EBV-positive Diffuse Large B-Cell Lymphoma in a Patient With Trisomy 21. ( 31045623 )
2019
3
Prognostic impact of trisomy 21 in follicular lymphoma. ( 30417943 )
2019
4
The impact of trisomy 21 on treatment modalities and outcome in adults with congenital heart disease in Switzerland. ( 30338722 )
2019
5
Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report. ( 30259573 )
2019
6
Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease. ( 30291384 )
2019
7
A Rare Case of Hemophagocytic Lymphohistiocytosis Associated With Myelodysplastic Syndrome and Trisomy 8 in a Pediatric Patient. ( 29683949 )
2019
8
Surgical and anesthetic management for hepatectomy in two pediatric patients with trisomy 18, pulmonary hypertension, and hepatoblastoma. ( 30803146 )
2019
9
Trisomy 21 and hydrops fetalis: parvovirus B19 or transient abnormal myelopoiesis? ( 30634881 )
2019
10
Infant With Trisomy 18 and Hypoplastic Left Heart Syndrome. ( 30948683 )
2019
11
Molecular Genetic Characterization of Acute Myeloid Leukemia With Trisomy 4 as the Sole Chromosome Abnormality. ( 31018948 )
2019
12
KRAS, NRAS, and BRAF mutations are highly enriched in trisomy 12 chronic lymphocytic leukemia and are associated with shorter treatment-free survival. ( 30872781 )
2019
13
Acute Myeloid Leukemia with t(8;21)(q22;q22) and Trisomy 4: A Rare Occurrence in a Female Child. ( 30899636 )
2019
14
Overexpression of CD49d in trisomy 12 chronic lymphocytic leukemia patients is mediated by IRF4 through induction of IKAROS. ( 30659236 )
2019
15
Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia. ( 30368590 )
2019
16
Surgical management of giant scrotal lymphedema in morbidly obese patient with trisomy 21. ( 30911704 )
2019
17
Pleural Mucosa-associated Lymphoid Tissue Lymphoma with Trisomy 18. ( 30449802 )
2019
18
Music therapy in a sleepless child with Pierre Robin sequence, partial trisomy 14 and partial monosomy 21. ( 30213438 )
2019
19
Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines. ( 30933946 )
2019
20
Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22. ( 31080683 )
2019
21
Elongated conus medullaris, sacral agenesis and scoliosis- a case report of a patient with trisomy 19q and monosomy 7q. ( 30641238 )
2019
22
Micro-CT of tracheal stenosis in trisomy 21. ( 30712021 )
2019
23
Total hip arthroplasty in patients with Trisomy 21: Systematic review and exploratory patient level analysis. ( 29803742 )
2019
24
Triple play of DYRK1A kinase in cortical progenitor cells of Trisomy 21. ( 30227164 )
2019
25
Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5-methyl-tetrahydrofolate and 5-formyl-tetrahydrofolate. ( 30667057 )
2019
26
Umbilical artery pulsatility index and half-peak systolic velocity deceleration time in fetuses with trisomy 21. ( 30741044 )
2019
27
Paving the Way for Therapy: The Second International Conference of the Trisomy 21 Research Society. ( 30800043 )
2019
28
Death of a Fetus With Myeloproliferative Disorder and Trisomy 21. ( 30801117 )
2019
29
Trisomy 21 in forensic autopsies: Review of a 20-year period. ( 30852413 )
2019
30
Employ ductus venous blood flow in the early detection of trisomy 21, trisomy 18, and trisomy 13: A meta-analysis. ( 30896619 )
2019
31
Cervical instability in patients with Trisomy 21: the gamble continues. ( 30908761 )
2019
32
The clinical usefulness of biochemical (free β-hCg, PaPP-a) and ultrasound (nuchal translucency) parameters in prenatal screening of trisomy 21 in the first trimester of pregnancy. ( 30950006 )
2019
33
Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated. ( 30962220 )
2019
34
An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21. ( 30978256 )
2019
35
Application of Differentially Methylated Loci in Clinical Diagnosis of Trisomy 21 Syndrome. ( 30986102 )
2019
36
Trisomy 21 in both fetuses in a DCDA twin pregnancy. ( 30988104 )
2019
37
Cervical spinal cord compression in a patient with Trisomy 21. ( 30989479 )
2019
38
Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies". ( 31106873 )
2019
39
Inflammatory disorders associated with trisomy 8-myelodysplastic syndromes: French retrospective case-control study. ( 30218579 )
2019
40
Two-Generation Transmission of Trisomy 18p: Prenatal Diagnosis in a Woman with Mild Intellectual Disability. ( 30939474 )
2019
41
The association of Trisomy 13 and 18 and hospital discharge outcomes among neonates in California: A retrospective cohort study. ( 30935949 )
2019
42
Selection of Candida albicans trisomy during oropharyngeal infection results in a commensal-like phenotype. ( 31091232 )
2019
43
The significance of trisomy 7 mosaicism in noninvasive prenatal screening. ( 30971315 )
2019
44
Factors related to survival discharge in trisomy 18: A retrospective multicenter study. ( 30942556 )
2019
45
Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant. ( 30936921 )
2019
46
Experiences of children with trisomy 18 referred to pediatric palliative care services on two continents. ( 30932336 )
2019
47
The ratio of cavum septi pellucidi width to anteroposterior cerebellar diameter: A novel index as a diagnostic adjunct for prenatal diagnosis of trisomy 18. ( 30932268 )
2019
48
Quantitative proteomics suggest a potential link between early embryonic death and trisomy 16. ( 30922443 )
2019
49
Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20. ( 30893560 )
2019
50
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

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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