MCID: TTR011
MIFTS: 47

Tetraploidy

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tetraploidy

MalaCards integrated aliases for Tetraploidy:

Name: Tetraploidy 52 58 71
Tetraploidy Syndrome 52

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 D057891
ICD10 via Orphanet 33 Q92.7
UMLS via Orphanet 72 C0333694
Orphanet 58 ORPHA3305
UMLS 71 C0333694

Summaries for Tetraploidy

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3305 Definition Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome , instead of two, resulting in total of 92 chromosomes in each cell . The phenotype is severe with multiple congenital anomalies, including central nervous system , ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine groth retardation, hypotonia , failure to thrive and developmental delay . It is usually associated with miscarriage. Visit the Orphanet disease page for more resources.

MalaCards based summary : Tetraploidy, also known as tetraploidy syndrome, is related to lynch syndrome and neuroblastoma. An important gene associated with Tetraploidy is LATS1 (Large Tumor Suppressor Kinase 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and SUMOylation. The drugs Vincristine and Doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, prostate and breast, and related phenotypes are microcephaly and biparietal narrowing

Wikipedia : 74 Polyploidy is a condition in which the cells of an organism have more than two paired (homologous) sets... more...

Related Diseases for Tetraploidy

Diseases related to Tetraploidy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 160)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome 28.9 BRCA2 BRCA1 AURKA
2 neuroblastoma 28.7 CAT BRCA2 BRCA1 AURKA
3 myeloid leukemia 10.6
4 leukemia, acute myeloid 10.5
5 polyploidy 10.5
6 leukemia 10.4
7 colorectal cancer 10.4
8 triploidy 10.4
9 acute leukemia 10.3
10 familial adenomatous polyposis 1 10.3
11 leukemia, acute lymphoblastic 10.3
12 chromosomal triplication 10.3
13 myelodysplastic syndrome 10.2
14 lymphoma 10.2
15 alzheimer disease 10.1
16 retinoblastoma 10.1
17 myeloma, multiple 10.1
18 aging 10.1
19 acute promyelocytic leukemia 10.1
20 childhood acute lymphocytic leukemia 10.1
21 familial retinoblastoma 10.1
22 47,xyy 10.1
23 partial hydatidiform mole 10.1
24 nondisjunction 10.0
25 hydatidiform mole, recurrent, 1 10.0
26 fryns microphthalmia syndrome 10.0
27 leukemia, chronic myeloid 10.0
28 colorectal adenoma 10.0
29 myelomeningocele 10.0
30 microphthalmia 10.0
31 microcephaly 10.0
32 sarcoma 10.0
33 polycystic ovary syndrome 10.0
34 neutropenia 10.0
35 turner syndrome 10.0
36 gestational trophoblastic neoplasm 10.0
37 spindle cell sarcoma 10.0
38 adenoma 10.0
39 b-cell lymphoma 10.0
40 myeloid sarcoma 10.0
41 mosaic trisomy 8 10.0
42 atypical teratoid rhabdoid tumor 9.9 BRCA2 AURKA
43 cat eye syndrome 9.9
44 cleft palate, isolated 9.9
45 lynch syndrome i 9.9
46 lymphoma, mucosa-associated lymphoid type 9.9
47 glioma susceptibility 1 9.9
48 leukemia, chronic lymphocytic 9.9
49 lipomatosis, multiple 9.9
50 chromosome 5q deletion syndrome 9.9

Graphical network of the top 20 diseases related to Tetraploidy:



Diseases related to Tetraploidy

Symptoms & Phenotypes for Tetraploidy

Human phenotypes related to Tetraploidy:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 convex nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000444
5 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
6 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
7 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
8 hypoplasia of the ear cartilage 58 31 frequent (33%) Frequent (79-30%) HP:0100720
9 radial club hand 58 31 frequent (33%) Frequent (79-30%) HP:0004059
10 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
11 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
12 aplasia/hypoplasia of the thymus 58 31 occasional (7.5%) Occasional (29-5%) HP:0010515
13 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
14 preauricular skin tag 58 31 occasional (7.5%) Occasional (29-5%) HP:0000384
15 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308
16 aplasia/hypoplasia of the lungs 58 31 occasional (7.5%) Occasional (29-5%) HP:0006703
17 aplasia/hypoplasia affecting the eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0008056

GenomeRNAi Phenotypes related to Tetraploidy according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.22 AURKA
2 Decreased viability GR00055-A-2 10.22 AURKA
3 Decreased viability GR00173-A 10.22 AURKB
4 Decreased viability GR00221-A-1 10.22 AURKA AURKB
5 Decreased viability GR00221-A-2 10.22 AURKA AURKB BRCA1
6 Decreased viability GR00221-A-3 10.22 BRCA1
7 Decreased viability GR00221-A-4 10.22 AURKA AURKB
8 Decreased viability GR00231-A 10.22 AURKA
9 Decreased viability GR00249-S 10.22 AURKA AURKB
10 Decreased viability GR00301-A 10.22 BRCA1
11 Decreased viability GR00402-S-2 10.22 AURKA
12 Decreased substrate adherent cell growth GR00193-A-1 9.77 AURKA
13 Decreased substrate adherent cell growth GR00193-A-2 9.77 AURKA AURKB LATS1
14 Decreased substrate adherent cell growth GR00193-A-4 9.77 AURKB
15 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.33 AURKA AURKB CAT
16 Decreased viability with cisplatin GR00101-A-4 9.26 BRCA1 BRCA2
17 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.65 AURKB
18 Synthetic lethal with cisplatin GR00101-A-1 8.62 BRCA1 BRCA2

MGI Mouse Phenotypes related to Tetraploidy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.63 AURKA AURKB BRCA1 BRCA2 CAT LATS1
2 mortality/aging MP:0010768 9.43 AURKA AURKB BRCA1 BRCA2 CAT LATS1
3 neoplasm MP:0002006 9.1 AURKA AURKB BRCA1 BRCA2 CAT LATS1

Drugs & Therapeutics for Tetraploidy

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
2
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
3
Etoposide Approved Phase 3 33419-42-0 36462
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
6
Lenograstim Approved, Investigational Phase 3 135968-09-1
7
Melphalan Approved Phase 3 148-82-3 460612 4053
8
Busulfan Approved, Investigational Phase 3 55-98-1 2478
9
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
10
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
11 Immunologic Factors Phase 3
12 Antibiotics, Antitubercular Phase 3
13 Etoposide phosphate Phase 3
14
Liposomal doxorubicin Phase 3 31703
15 Immunosuppressive Agents Phase 3
16 Alkylating Agents Phase 3
17 Anti-Bacterial Agents Phase 3
18 Tubulin Modulators Phase 3
19 Antirheumatic Agents Phase 3
20 Antimitotic Agents Phase 3
21 Anti-Ulcer Agents Phase 3
22 Antacids Phase 3
23 Antioxidants Phase 3
24 Gastrointestinal Agents Phase 3
25 Proton Pump Inhibitors Phase 3
26 Protective Agents Phase 3
27
Epigallocatechin Experimental, Investigational Phase 1 970-74-1 72277
28
Epigallocatechin gallate Investigational Phase 1 989-51-5 65064
29
Epicatechin Investigational Phase 1 490-46-0, 35323-91-2 72276
30 Tea Phase 1
31 Neuroprotective Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 European Infant Neuroblastoma Study Final Protocol Unknown status NCT00417053 Phase 3 busulfan;carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide phosphate;melphalan;vincristine sulfate
2 Melatonin Associated to Acid Inhibition for Chemoprevention in Barret Esophagus: a Pilot Study Completed NCT01566474 Phase 3 Omeprazole;Melatonin
3 European Infant Neuroblastoma Study - Stage 4 With Bone, Lung, Pleura or CNS Involvement; MYCN Not Amplified Completed NCT00025623 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
4 European Infant Neuroblastoma Study - Stage 4S and Stage 4 (No Bone, Lung, Pleura or CNS); MYCN Not Amplified Completed NCT00025610 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
5 European Infant Neuroblastoma Study - Unresectable Tumors (MYCN Not Amplified) Completed NCT00025597 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
6 Phase Ib Randomized, Double-Blinded, Placebo-Controlled, Dose Escalation Study of Polyphenon E in Patients With Barrett's Esophagus Completed NCT00233935 Phase 1 defined green tea catechin extract

Search NIH Clinical Center for Tetraploidy

Genetic Tests for Tetraploidy

Anatomical Context for Tetraploidy

MalaCards organs/tissues related to Tetraploidy:

40
Myeloid, Prostate, Breast, Bone, Lung, Skin, Colon

Publications for Tetraploidy

Articles related to Tetraploidy:

(show top 50) (show all 992)
# Title Authors PMID Year
1
Genetic abnormalities seen on CVS in early pregnancy failure. 61
30373416 2020
2
Complex management of hydrocephalus secondary to choroid plexus hyperplasia. 61
32497849 2020
3
Corrigendum to "Femtosecond laser-induced blastomere fusion results in embryo tetraploidy by common metaphase plate formation" [Exp. Cell Res. 389 1 (2020) 111887]. 61
32229192 2020
4
The sterlet sturgeon genome sequence and the mechanisms of segmental rediploidization. 61
32231327 2020
5
Centrosome reduction in newly-generated tetraploid cancer cells obtained by separase depletion. 61
32499568 2020
6
Genome-Wide Increased Copy Number is Associated with Emergence of Dominant Clones of the Irish Potato Famine Pathogen Phytophthora infestans. 61
32576669 2020
7
The ploidy determination of the biotechnologically important yeast Candida utilis. 61
31965459 2020
8
Aneuploidy in targeted endoscopic biopsies outperforms other tissue biomarkers in the prediction of histologic progression of Barrett's oesophagus: A multi-centre prospective cohort study. 61
32460165 2020
9
Impact of cytogenetic abnormalities on outcomes of adult Philadelphia-negative acute lymphoblastic leukemia after allogeneic hematopoietic stem cell transplantation: a study by the Acute Leukemia Working Committee of the Center for International Blood and Marrow Transplant Research. 61
31558669 2020
10
Tetraploidy-Associated Genetic Heterogeneity Confers Chemo-Radiotherapy Resistance to Colorectal Cancer Cells. 61
32365785 2020
11
Preferential Killing of Tetraploid Colon Cancer Cells by Targeting the Mitotic Kinase PLK1. 61
32259417 2020
12
Janus Face of Drug-Induced Tetraploidy in Non-Hodgkin Lymphoma. 61
32291237 2020
13
PAUF/ZG16B promotes colorectal cancer progression through alterations of the mitotic functions and the Wnt/β-catenin pathway. 61
31095674 2020
14
Femtosecond laser-induced blastomere fusion results in embryo tetraploidy by common metaphase plate formation. 61
32027865 2020
15
Asymmetric clustering of centrosomes defines the early evolution of tetraploid cells. 61
32347795 2020
16
Genotype calling of triploid offspring from diploid parents. 61
32188420 2020
17
Effect of colchicine induced tetraploidy on morphology, cytology, essential oil composition, gene expression and antioxidant activity of Citrus limon (L.) Osbeck. 61
32158134 2020
18
Actin reduction by MsrB2 is a key component of the cytokinetic abscission checkpoint and prevents tetraploidy. 61
32029597 2020
19
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA. 61
31391534 2020
20
The balance of forces generated by kinesins controls spindle polarity and chromosomal heterogeneity in tetraploid cells. 61
31757888 2019
21
The Aquilegia genome reveals a hybrid origin of core eudicots. 61
31779695 2019
22
Tetraploidy causes chromosomal instability in acentriolar mouse embryos. 61
31645568 2019
23
FxCycle™ Based Ploidy Correlates with Cytogenetic Ploidy in B-Cell Acute Lymphoblastic Leukemia and Is Able to Detect the Aneuploid Minimal Residual Disease Clone. 61
30715800 2019
24
Acute Myeloid Leukemia with Philadelphia Chromosome, Near-tetraploidy, and 5q Deletion. 61
31700719 2019
25
Intraspecific Variation in Protists: Clues for Microevolution from Poteriospumella lacustris (Chrysophyceae). 61
31384914 2019
26
Safety evaluation of conditionally immortalized cells for renal replacement therapy. 61
31523392 2019
27
Meta-Analysis of Cancer Triploidy: Rearrangements of Genome Complements in Male Human Tumors Are Characterized by XXY Karyotypes. 61
31412657 2019
28
Fusion-mediated chromosomal instability promotes aneuploidy patterns that resemble human tumors. 61
31270395 2019
29
Sequencing of Cultivated Peanut, Arachis hypogaea, Yields Insights into Genome Evolution and Oil Improvement. 61
30902685 2019
30
Comparative physiology and transcriptome analysis allows for identification of lncRNAs imparting tolerance to drought stress in autotetraploid cassava. 61
31226927 2019
31
Tetraploidy is associated with poor prognosis at diagnosis in multiple myeloma. 61
30680770 2019
32
Polyploidy among salmonid aldehyde dehydrogenase genes and proteins. 61
30776359 2019
33
Induction, identification and characterization of tetraploidy in Lycium ruthenicum. 61
31086494 2019
34
Donor-derived hepatocytes in human hematopoietic cell transplant recipients: evidence of fusion. 61
30539318 2019
35
Tetraploid citrus seedlings subjected to long-term nutrient deficiency are less affected at the ultrastructural, physiological and biochemical levels than diploid ones. 61
30616112 2019
36
Identification of chromosomal abnormalities and genomic features in near-triploidy/tetraploidy-acute leukemia by fluorescence in situ hybridization. 61
30863166 2019
37
Cancer follows chromosome missegregation when all endogenous repair mechanisms fail. 61
30220330 2018
38
Ploidy Has Minimal Effect on Hypoxia Tolerance at High Temperature in Rainbow Trout (Oncorhynchus mykiss). 61
30285539 2018
39
Chromosome integrity checkpoints in stem and progenitor cells: transitions upon differentiation, pathogenesis, and aging. 61
30066086 2018
40
[Preliminary analysis of genetics and clinical features of patients with acute myeloid leukemia and near-tetraploid/tetraploidy karyotype]. 61
30298507 2018
41
[Genetic analysis of a fetus with partial 18p tetraploidy syndrome]. 61
30298504 2018
42
Genome Editing and the Problem of Tetraploidy in Cell Modeling of the Genetic Form of Parkinsonism. 61
30472942 2018
43
Myelodysplasia-related acute myeloid leukemia and acute promyelocytic leukemia: concomitant occurrence of two molecularly distinct diseases. 61
30283621 2018
44
Tetraploidy in cancer and its possible link to aging. 61
29949679 2018
45
Comparison of leaf transcriptomes of cassava "Xinxuan 048" diploid and autotetraploid plants. 61
30155710 2018
46
Draft Genome Sequence for the Tree Pathogen Phytophthora plurivora. 61
30060094 2018
47
A genome-wide microRNA screen identifies regulators of tetraploid cell proliferation. 61
29791254 2018
48
Near-tetraploid cancer cells show chromosome instability triggered by replication stress and exhibit enhanced invasiveness. 61
29452566 2018
49
Cytogenetic Analysis of the Results of Genome Editing on the Cell Model of Parkinson's Disease. 61
30006877 2018
50
A rapid and reliable chromosome analysis method for products of conception using interphase nuclei. 61
29573570 2018

Variations for Tetraploidy

Expression for Tetraploidy

Search GEO for disease gene expression data for Tetraploidy.

Pathways for Tetraploidy

GO Terms for Tetraploidy

Cellular components related to Tetraploidy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 LATS1 BRCA2 AURKB AURKA
2 microtubule organizing center GO:0005815 9.58 LATS1 BRCA2 AURKA
3 spindle microtubule GO:0005876 9.37 AURKB AURKA
4 spindle midzone GO:0051233 9.32 AURKB AURKA
5 condensed nuclear chromosome, centromeric region GO:0000780 9.26 AURKB AURKA
6 spindle pole centrosome GO:0031616 9.16 AURKB AURKA
7 lateral element GO:0000800 8.96 BRCA2 BRCA1
8 chromosome passenger complex GO:0032133 8.62 AURKB AURKA

Biological processes related to Tetraploidy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell division GO:0051301 9.65 LATS1 AURKB AURKA
2 anaphase-promoting complex-dependent catabolic process GO:0031145 9.54 AURKB AURKA
3 double-strand break repair via homologous recombination GO:0000724 9.52 BRCA2 BRCA1
4 negative regulation of protein binding GO:0032091 9.51 AURKB AURKA
5 double-strand break repair GO:0006302 9.49 BRCA2 BRCA1
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.46 BRCA2 BRCA1
7 mitotic spindle organization GO:0007052 9.43 AURKB AURKA
8 regulation of signal transduction by p53 class mediator GO:1901796 9.43 BRCA1 AURKB AURKA
9 centrosome cycle GO:0007098 9.4 BRCA1 AURKA
10 spindle organization GO:0007051 9.37 AURKB AURKA
11 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.32 BRCA2 BRCA1
12 chordate embryonic development GO:0043009 9.16 BRCA2 BRCA1
13 regulation of cytokinesis GO:0032465 9.13 BRCA2 AURKB AURKA
14 cell cycle GO:0007049 9.02 LATS1 BRCA2 BRCA1 AURKB AURKA

Molecular functions related to Tetraploidy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.43 LATS1 AURKB AURKA
2 protein serine/threonine kinase activity GO:0004674 9.33 LATS1 AURKB AURKA
3 protein serine/threonine/tyrosine kinase activity GO:0004712 8.96 AURKB AURKA
4 histone serine kinase activity GO:0035174 8.62 AURKB AURKA

Sources for Tetraploidy

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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