MCID: TTR011
MIFTS: 43

Tetraploidy

Categories: Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Tetraploidy

MalaCards integrated aliases for Tetraploidy:

Name: Tetraploidy 20 58 70
Tetraploidy Syndrome 20

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 D057891
ICD10 via Orphanet 33 Q92.7
UMLS via Orphanet 71 C0333694
Orphanet 58 ORPHA3305
UMLS 70 C0333694

Summaries for Tetraploidy

GARD : 20 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.

MalaCards based summary : Tetraploidy, also known as tetraploidy syndrome, is related to lynch syndrome and leukemia, acute myeloid. An important gene associated with Tetraploidy is LATS1 (Large Tumor Suppressor Kinase 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and Regulation of TP53 Activity. Affiliated tissues include myeloid, breast and ovary, and related phenotypes are microcephaly and biparietal narrowing

Wikipedia : 73 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 158)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome 28.8 TP73 BRCA2 BRCA1 AURKA
2 leukemia, acute myeloid 10.4
3 myeloid leukemia 10.4
4 polyploidy 10.4
5 triploidy 10.2
6 acute leukemia 10.2
7 leukemia 10.2
8 familial adenomatous polyposis 1 10.1
9 leukemia, acute lymphoblastic 10.1
10 chromosomal triplication 10.1
11 myelodysplastic syndrome 10.1
12 fallopian tube clear cell adenocarcinoma 10.1 BRCA2 BRCA1
13 ovary transitional cell carcinoma 10.1 BRCA2 BRCA1
14 basaloid lung carcinoma 10.1 BRCA2 BRCA1
15 cancerophobia 10.1 BRCA2 BRCA1
16 nosophobia 10.1 BRCA2 BRCA1
17 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.1 BRCA2 BRCA1
18 ruvalcaba syndrome 10.1 BRCA2 BRCA1
19 hereditary site-specific ovarian cancer syndrome 10.1 BRCA2 BRCA1
20 breast-ovarian cancer, familial 2 10.1 BRCA2 BRCA1
21 intracystic papillary adenoma 10.1 BRCA2 BRCA1
22 endosalpingiosis 10.1 BRCA2 BRCA1
23 cervical adenoma malignum 10.1 BRCA2 BRCA1
24 mutagen sensitivity 10.1 BRCA2 BRCA1
25 primary peritoneal carcinoma 10.1 BRCA2 BRCA1
26 synchronous bilateral breast carcinoma 10.1 BRCA2 BRCA1
27 dysplastic nevus syndrome 10.1 BRCA2 BRCA1
28 hypertrophy of breast 10.0 BRCA2 BRCA1
29 familial ovarian cancer 10.0 BRCA2 BRCA1
30 female reproductive endometrioid cancer 10.0 BRCA2 BRCA1
31 peritoneum cancer 10.0 BRCA2 BRCA1
32 breast-ovarian cancer, familial 1 10.0 BRCA2 BRCA1
33 papillary serous adenocarcinoma 10.0 BRCA2 BRCA1
34 fallopian tube disease 10.0 BRCA2 BRCA1
35 hereditary nonpolyposis colon cancer 10.0 BRCA2 BRCA1
36 lobular neoplasia 10.0 BRCA2 BRCA1
37 thoracic benign neoplasm 10.0 BRCA2 BRCA1
38 breast benign neoplasm 10.0 BRCA2 BRCA1
39 fanconi anemia, complementation group d1 10.0 BRCA2 BRCA1
40 fanconi anemia, complementation group j 10.0 BRCA2 BRCA1
41 ovarian cystadenocarcinoma 10.0 BRCA2 BRCA1
42 dysgerminoma 10.0 BRCA2 BRCA1
43 myasthenic syndrome, congenital, 6, presynaptic 10.0 BRCA2 BRCA1
44 papillary adenocarcinoma 10.0 BRCA2 BRCA1
45 retinoblastoma 10.0
46 myeloma, multiple 10.0
47 aging 10.0
48 acute promyelocytic leukemia 10.0
49 lymphoma 10.0
50 childhood acute lymphocytic leukemia 10.0

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 19)
# 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 viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.35 BRCA1 TP73
16 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.35 BRCA1 BRCA2 TP73
17 Decreased viability with cisplatin GR00101-A-4 9.26 BRCA1 BRCA2
18 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.85 AURKB
19 Synthetic lethal with cisplatin GR00101-A-1 8.62 BRCA1 BRCA2

MGI Mouse Phenotypes related to Tetraploidy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 AURKA AURKB BRCA1 BRCA2 LATS1 TP73
2 growth/size/body region MP:0005378 9.73 AURKA AURKB BRCA1 BRCA2 LATS1 TP73
3 embryo MP:0005380 9.72 AURKA AURKB BRCA1 BRCA2 TP73
4 mortality/aging MP:0010768 9.63 AURKA AURKB BRCA1 BRCA2 LATS1 TP73
5 neoplasm MP:0002006 9.43 AURKA AURKB BRCA1 BRCA2 LATS1 TP73
6 reproductive system MP:0005389 9.02 AURKB BRCA1 BRCA2 LATS1 TP73

Drugs & Therapeutics for Tetraploidy

Search Clinical Trials , NIH Clinical Center for Tetraploidy

Genetic Tests for Tetraploidy

Anatomical Context for Tetraploidy

MalaCards organs/tissues related to Tetraploidy:

40
Myeloid, Breast, Ovary, Colon, Eye, Thymus, Smooth Muscle

Publications for Tetraploidy

Articles related to Tetraploidy:

(show top 50) (show all 1011)
# Title Authors PMID Year
1
Cytogenetic complexity and heterogeneity in intravascular lymphoma. 61
32763919 2021
2
Nutrient-driven genome evolution revealed by comparative genomics of chrysomonad flagellates. 61
33712682 2021
3
Altered gene expression and root thebaine production in polyploidized and methyl jasmonate-elicited Papaver bracteatum Lindl. 61
33243708 2021
4
The tumor suppressor LATS2 reduces v-Src-induced membrane blebs in a kinase activity-independent manner. 61
33368671 2021
5
The prognostic implications of tetraploidy/near-Tetraploidy in acute myeloid leukemia: a case series and systematic review of the literature. 61
32993375 2021
6
Poorly differentiated chordoma with whole-genome doubling evolving from a SMARCB1-deficient conventional chordoma: A case report. 61
32920865 2021
7
The prognostic value of additional copies of 1q21 in multiple myeloma depends on the primary genetic event. 61
32936982 2020
8
Cyclopenta[b]indole Derivative Inhibits Aurora B in Primary Cells. 61
33403307 2020
9
[Analysis of genetic and clinical characteristics of nine cases of myelodysplastic syndrome with near tetraploid/tetraploidy karyotype]. 61
33306816 2020
10
The genome sequence of tetraploid sweet basil, Ocimum basilicum L., provides tools for advanced genome editing and molecular breeding. 61
33340318 2020
11
Comparative Analysis of ROS Network Genes in Extremophile Eukaryotes. 61
33266251 2020
12
Near Tetraploidy in a Patient with Systemic Lupus Erythematosus. 61
33139524 2020
13
Complex Management of Hydrocephalus Secondary To Choroid Plexus Hyperplasia. 61
32497849 2020
14
Comparative Genomic Analyses and a Novel Linkage Map for Cisco (Coregonus artedi) Provide Insights into Chromosomal Evolution and Rediploidization Across Salmonids. 61
32611547 2020
15
Genome-Wide Analysis of the PIN Auxin Efflux Carrier Gene Family in Coffee. 61
32825074 2020
16
Janus Face of Drug-Induced Tetraploidy in Non-Hodgkin Lymphoma. 61
32291237 2020
17
Detection of tetraploidization in chromophobe renal cell carcinoma: Insights and pitfalls. 61
32658344 2020
18
A PoleP286R mouse model of endometrial cancer recapitulates high mutational burden and immunotherapy response. 61
32699191 2020
19
Genetic abnormalities seen on CVS in early pregnancy failure. 61
30373416 2020
20
Genome-Wide Increased Copy Number is Associated with Emergence of Dominant Clones of the Irish Potato Famine Pathogen Phytophthora infestans. 61
32576669 2020
21
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
22
The sterlet sturgeon genome sequence and the mechanisms of segmental rediploidization. 61
32231327 2020
23
Centrosome reduction in newly-generated tetraploid cancer cells obtained by separase depletion. 61
32499568 2020
24
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
25
The ploidy determination of the biotechnologically important yeast Candida utilis. 61
31965459 2020
26
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
27
PAUF/ZG16B promotes colorectal cancer progression through alterations of the mitotic functions and the Wnt/β-catenin pathway. 61
31095674 2020
28
Tetraploidy-Associated Genetic Heterogeneity Confers Chemo-Radiotherapy Resistance to Colorectal Cancer Cells. 61
32365785 2020
29
Preferential Killing of Tetraploid Colon Cancer Cells by Targeting the Mitotic Kinase PLK1. 61
32259417 2020
30
Asymmetric clustering of centrosomes defines the early evolution of tetraploid cells. 61
32347795 2020
31
Femtosecond laser-induced blastomere fusion results in embryo tetraploidy by common metaphase plate formation. 61
32027865 2020
32
Genotype calling of triploid offspring from diploid parents. 61
32188420 2020
33
Actin reduction by MsrB2 is a key component of the cytokinetic abscission checkpoint and prevents tetraploidy. 61
32029597 2020
34
Effect of colchicine induced tetraploidy on morphology, cytology, essential oil composition, gene expression and antioxidant activity of Citrus limon (L.) Osbeck. 61
32158134 2020
35
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA. 61
31391534 2020
36
Morphological description of a novel synthetic allotetraploid(A1A1G3G3) of Gossypium herbaceum L.and G.nelsonii Fryx. suitable for disease-resistant breeding applications. 61
33270669 2020
37
Balanced Genome Triplication in Wheat Causes Premature Growth Arrest and an Upheaval of Genome-Wide Gene Regulation. 61
32733539 2020
38
The balance of forces generated by kinesins controls spindle polarity and chromosomal heterogeneity in tetraploid cells. 61
31757888 2019
39
The Aquilegia genome reveals a hybrid origin of core eudicots. 61
31779695 2019
40
Tetraploidy causes chromosomal instability in acentriolar mouse embryos. 61
31645568 2019
41
Safety evaluation of conditionally immortalized cells for renal replacement therapy. 61
31523392 2019
42
Intraspecific Variation in Protists: Clues for Microevolution from Poteriospumella lacustris (Chrysophyceae). 61
31384914 2019
43
Acute Myeloid Leukemia with Philadelphia Chromosome, Near-tetraploidy, and 5q Deletion. 61
31700719 2019
44
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
45
Meta-Analysis of Cancer Triploidy: Rearrangements of Genome Complements in Male Human Tumors Are Characterized by XXY Karyotypes. 61
31412657 2019
46
Fusion-mediated chromosomal instability promotes aneuploidy patterns that resemble human tumors. 61
31270395 2019
47
Sequencing of Cultivated Peanut, Arachis hypogaea, Yields Insights into Genome Evolution and Oil Improvement. 61
30902685 2019
48
Comparative physiology and transcriptome analysis allows for identification of lncRNAs imparting tolerance to drought stress in autotetraploid cassava. 61
31226927 2019
49
Tetraploidy is associated with poor prognosis at diagnosis in multiple myeloma. 61
30680770 2019
50
Polyploidy among salmonid aldehyde dehydrogenase genes and proteins. 61
30776359 2019

Variations for Tetraploidy

Expression for Tetraploidy

Search GEO for disease gene expression data for Tetraploidy.

Pathways for Tetraploidy

Pathways related to Tetraploidy according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 BRCA2 BRCA1 AURKB AURKA
2
Show member pathways
12.38 TP73 BRCA1 AURKB AURKA
3
Show member pathways
12.11 BRCA1 AURKB AURKA
4 11.57 TP73 LATS1 BRCA2 BRCA1 AURKB AURKA
5 11.52 BRCA2 BRCA1 AURKA
6 11.5 BRCA2 BRCA1
7
Show member pathways
11.46 TP73 BRCA1
8
Show member pathways
11.43 BRCA2 BRCA1
9 11.34 TP73 BRCA1
10 11.19 AURKB AURKA
11
Show member pathways
11.09 AURKB AURKA
12 10.94 BRCA2 AURKB
13 10.84 AURKB AURKA
14 10.62 BRCA1 AURKB AURKA

GO Terms for Tetraploidy

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 LATS1 BRCA2 AURKB AURKA
2 microtubule organizing center GO:0005815 9.65 LATS1 BRCA2 AURKA
3 spindle GO:0005819 9.5 LATS1 AURKB AURKA
4 spindle microtubule GO:0005876 9.46 AURKB AURKA
5 mitotic spindle pole GO:0097431 9.43 AURKB AURKA
6 spindle midzone GO:0051233 9.4 AURKB AURKA
7 condensed chromosome, centromeric region GO:0000779 9.37 AURKB AURKA
8 midbody GO:0030496 9.33 LATS1 AURKB AURKA
9 spindle pole centrosome GO:0031616 9.26 AURKB AURKA
10 lateral element GO:0000800 8.96 BRCA2 BRCA1
11 chromosome passenger complex GO:0032133 8.62 AURKB AURKA

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.72 TP73 BRCA2 BRCA1
2 cell division GO:0051301 9.69 LATS1 AURKB AURKA
3 anaphase-promoting complex-dependent catabolic process GO:0031145 9.57 AURKB AURKA
4 double-strand break repair via homologous recombination GO:0000724 9.56 BRCA2 BRCA1
5 negative regulation of protein binding GO:0032091 9.54 AURKB AURKA
6 double-strand break repair GO:0006302 9.52 BRCA2 BRCA1
7 mitotic spindle organization GO:0007052 9.49 AURKB AURKA
8 centrosome cycle GO:0007098 9.48 BRCA1 AURKA
9 positive regulation of cell cycle arrest GO:0071158 9.46 TP73 BRCA1
10 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.43 TP73 BRCA2
11 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.43 TP73 BRCA2 BRCA1
12 spindle organization GO:0007051 9.4 AURKB AURKA
13 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.37 BRCA2 BRCA1
14 regulation of cytokinesis GO:0032465 9.33 BRCA2 AURKB AURKA
15 chordate embryonic development GO:0043009 9.32 BRCA2 BRCA1
16 regulation of signal transduction by p53 class mediator GO:1901796 9.26 TP73 BRCA1 AURKB AURKA
17 cell cycle GO:0007049 9.1 TP73 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 9.5 LATS1 AURKB AURKA
2 protein kinase binding GO:0019901 9.43 TP73 LATS1 AURKA
3 protein serine/threonine kinase activity GO:0004674 9.33 LATS1 AURKB AURKA
4 protein serine/threonine/tyrosine kinase activity GO:0004712 8.96 AURKB AURKA
5 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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