MCID: TTR011
MIFTS: 51

Tetraploidy

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tetraploidy

MalaCards integrated aliases for Tetraploidy:

Name: Tetraploidy 54 60 74
Tetraploidy Syndrome 54

Classifications:



External Ids:

MESH via Orphanet 46 D057891
ICD10 via Orphanet 35 Q92.7
UMLS via Orphanet 75 C0333694
Orphanet 60 ORPHA3305
UMLS 74 C0333694

Summaries for Tetraploidy

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3305Disease definitionTetraploidy 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 leukemia and myeloid leukemia. 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. The drugs Omeprazole and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, skin and colon, and related phenotypes are microcephaly and biparietal narrowing

Wikipedia : 77 Polyploidy is the state of a cell or organism having more than two paired (homologous) sets of... more...

Related Diseases for Tetraploidy

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 leukemia 10.6
2 myeloid leukemia 10.4
3 leukemia, acute myeloid 10.4
4 triploidy 10.3
5 acute leukemia 10.1
6 lymphocytic leukemia 10.1
7 alzheimer disease 10.1
8 colorectal cancer 10.1
9 myeloma, multiple 10.1
10 neuroblastoma 10.1
11 aging 10.1
12 leukemia, acute lymphoblastic 10.1
13 lymphoma 10.1
14 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
15 myelodysplastic syndrome 10.0
16 leukemia, chronic lymphocytic 2 9.8
17 lymphoma, mucosa-associated lymphoid type 9.8
18 leukemia, chronic lymphocytic 9.8
19 nondisjunction 9.8
20 ovarian cancer 9.8
21 familial adenomatous polyposis 1 9.8
22 neural tube defects 9.8
23 hydatidiform mole, recurrent, 1 9.8
24 acute promyelocytic leukemia 9.8
25 chromosome 13q14 deletion syndrome 9.8
26 lymphatic malformation 7 9.8
27 acute lymphoblastic leukemia, childhood 9.8
28 anaplastic large cell lymphoma 9.8
29 colorectal adenoma 9.8
30 neutropenia 9.8
31 polycystic ovary syndrome 9.8
32 ulcerative colitis 9.8
33 colitis 9.8
34 sarcoma 9.8
35 melanoma 9.8
36 gestational trophoblastic neoplasm 9.8
37 colonic disease 9.8
38 adenoma 9.8
39 myeloid sarcoma 9.8
40 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.8
41 fetal edema 9.8
42 glioblastoma 9.8
43 glioma 9.8
44 hydrops fetalis 9.8
45 leukemia, b-cell, chronic 9.8
46 hypoxia 9.8
47 partial hydatidiform mole 9.8
48 alk-positive anaplastic large cell lymphoma 9.8
49 ocular cancer 9.8 BRCA2 CDK2
50 hyperinsulinemic hypoglycemia, familial, 3 9.6 AURKA AURKB

Graphical network of the top 20 diseases related to Tetraploidy:



Diseases related to Tetraploidy

Symptoms & Phenotypes for Tetraploidy

Human phenotypes related to Tetraploidy:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
2 biparietal narrowing 60 33 hallmark (90%) Very frequent (99-80%) HP:0004422
3 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
4 convex nasal ridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000444
5 abnormality of chromosome segregation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002916
6 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
7 short philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000322
8 hypoplasia of the ear cartilage 60 33 frequent (33%) Frequent (79-30%) HP:0100720
9 radial club hand 60 33 frequent (33%) Frequent (79-30%) HP:0004059
10 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
11 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
12 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308
13 aplasia/hypoplasia of the thymus 60 33 occasional (7.5%) Occasional (29-5%) HP:0010515
14 preauricular skin tag 60 33 occasional (7.5%) Occasional (29-5%) HP:0000384
15 aplasia/hypoplasia affecting the eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0008056
16 hydronephrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000126
17 aplasia/hypoplasia of the lungs 60 33 occasional (7.5%) Occasional (29-5%) HP:0006703

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

27 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 10.2 CDK2 AURKA
2 Decreased substrate adherent cell growth GR00193-A-2 10.2 AURKB CDK2 AURKA LATS1
3 Decreased substrate adherent cell growth GR00193-A-3 10.2 CDK2
4 Decreased substrate adherent cell growth GR00193-A-4 10.2 AURKB CDK2
5 Decreased viability GR00055-A-2 10.13 AURKA
6 Decreased viability GR00173-A 10.13 AURKB
7 Decreased viability GR00221-A-1 10.13 AURKA AURKB
8 Decreased viability GR00221-A-2 10.13 AURKA AURKB CDK2
9 Decreased viability GR00221-A-3 10.13 CDK2
10 Decreased viability GR00221-A-4 10.13 AURKA AURKB
11 Decreased viability GR00231-A 10.13 AURKA
12 Decreased viability GR00301-A 10.13 CDK2
13 Decreased viability GR00402-S-2 10.13 AURKA AURKB CDK2
14 Decreased cell proliferation GR00353-A 9.4 AURKA CDK2
15 Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection GR00234-A-1 9.37 AURKB CDK2
16 Effect on mitosis GR00257-A-2 9.33 AURKA AURKB BRCA2
17 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.23 BRCA2 CDK2 NGFR
18 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.23 AURKA AURKB BRCA2 CDK2 NGFR
19 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.96 AURKA AURKB

MGI Mouse Phenotypes related to Tetraploidy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 AURKA AURKB BRCA2 CDK2 LATS1 NGFR
2 growth/size/body region MP:0005378 9.73 AURKA AURKB BRCA2 CDK2 LATS1 NGFR
3 integument MP:0010771 9.55 AURKB BRCA2 CDK2 LATS1 NGFR
4 mortality/aging MP:0010768 9.43 AURKA AURKB BRCA2 CDK2 LATS1 NGFR
5 neoplasm MP:0002006 9.02 AURKA AURKB BRCA2 CDK2 LATS1

Drugs & Therapeutics for Tetraploidy

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
3 Antioxidants Phase 3
4 Central Nervous System Depressants Phase 3
5 Anti-Ulcer Agents Phase 3
6 Antacids Phase 3
7 Gastrointestinal Agents Phase 3
8 Proton Pump Inhibitors Phase 3
9 Protective Agents Phase 3
10
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
11
Methylphenidate Approved, Investigational Phase 2 113-45-1 4158
12
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
13 Central Nervous System Stimulants Phase 2
14 Dopamine Uptake Inhibitors Phase 2
15 Neurotransmitter Agents Phase 2
16 Neurotransmitter Uptake Inhibitors Phase 2
17 Dopamine Agents Phase 2
18 Histone Deacetylase Inhibitors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Melatonin Associated to Acid Inhibition for Chemoprevention in Barret Esophagus: a Pilot Study Unknown status NCT01566474 Phase 3 Omeprazole;Melatonin
2 Effects of Methylphenidate on Cellular Abnormalities in Children With Attention Deficit Hyperactivity Disorder (ADHD) Completed NCT00409708 Phase 2 Extended Release Methylphenidate (Ritalin LA ) plus Behavior Therapy
3 Vorinostat in Treating Patients With Locally Advanced, Recurrent, or Metastatic Adenoid Cystic Carcinoma Completed NCT01175980 Phase 2 Vorinostat

Search NIH Clinical Center for Tetraploidy

Genetic Tests for Tetraploidy

Anatomical Context for Tetraploidy

MalaCards organs/tissues related to Tetraploidy:

42
Myeloid, Skin, Colon, Eye, Thymus, Brain, Ovary

Publications for Tetraploidy

Articles related to Tetraploidy:

(show top 50) (show all 213)
# Title Authors Year
1
Identification of chromosomal abnormalities and genomic features in near-triploidy/tetraploidy-acute leukemia by fluorescence in situ hybridization. ( 30863166 )
2019
2
Tetraploidy is Associated with Poor Prognosis at Diagnosis in Multiple Myeloma. ( 30680770 )
2019
3
Tetraploidy in cancer and its possible link to aging. ( 29949679 )
2018
4
Nucleolar Dominance in a Tetraploidy Hybrid Lineage Derived From Carassius auratus red var. () × Megalobrama amblycephala (). ( 30319686 )
2018
5
Genome Editing and the Problem of Tetraploidy in Cell Modeling of the Genetic Form of Parkinsonism. ( 30472942 )
2018
6
Tetraploidy-associated centrosome overduplication in mouse early embryos. ( 30534347 )
2018
7
Genetic differentiation and spatiotemporal history of diploidy and tetraploidy of<i>Clintonia udensis</i>. ( 29238551 )
2017
8
Near-tetraploidy is associated with Richter transformation in chronic lymphocytic leukemia patients receiving ibrutinib. ( 29296799 )
2017
9
Near Tetraploidy Acute Myeloid Leukemia in Long-term Remission with Persistent Clonal Hematopoiesis with del(20)(q12q13). ( 29093395 )
2017
10
Tetraploidy acute myeloid leukaemia after chromosome 16 inversion. ( 28331025 )
2017
11
The characterisation of microsatellite markers reveals tetraploidy in the Greater Water Parsnip, Sium latifolium (Apiaceae). ( 28606172 )
2017
12
Neuronal tetraploidy in Alzheimer and aging. ( 29070731 )
2017
13
Tetraploidy/near-tetraploidy acute myeloid leukemia. ( 27951415 )
2016
14
A female newborn having mosaicism with near-tetraploidy and trisomy 18. ( 26789424 )
2016
15
Effects of tetraploidy induction on rainbow trout (Oncorhynchus mykiss, Walbaum, 1792) proteome at early stages of development. ( 27561891 )
2016
16
Erythrophagocytosis in T-cell type acute lymphoblastic leukaemia with near-tetraploidy. ( 27520437 )
2016
17
BILATERAL OPTIC NERVE COLOBOMAS IN INFANT WITH TETRAPLOIDY. ( 26579595 )
2016
18
Tetraploidy Enhances Boron-Excess Tolerance in Carrizo Citrange (Citrus sinensis L. Osb. A9 Poncirus trifoliata L. Raf.). ( 27252717 )
2016
19
Tetraploidy enhances the ability to exclude chloride from leaves in carrizo citrange seedlings. ( 27589221 )
2016
20
Aneuploidy and Tetraploidy as Distinct Patterns During Melanomagenesis. ( 27466867 )
2016
21
Stimulation of Cell Elongation by Tetraploidy in Hypocotyls of Dark-Grown Arabidopsis Seedlings. ( 26244498 )
2015
22
Tetraploidy and CIN: a dangerous combination. ( 26517196 )
2015
23
TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer. ( 25916844 )
2015
24
Clinicopathological analysis of near-tetraploidy/tetraploidy acute myeloid leukaemia. ( 25563333 )
2015
25
Cytokinetic failure-induced tetraploidy develops into aneuploidy, triggering skin aging in phospho-vimentin deficient mice. ( 25847236 )
2015
26
Tetraploidy acute promyelocytic leuemia with double t(15;17)/PML-RARA, a case report with review of literature. ( 25197424 )
2014
27
The negative interplay between Aurora A/B and BRCA1/2 controls cancer cell growth and tumorigenesis via distinct regulation of cell cycle progression, cytokinesis, and tetraploidy. ( 24775809 )
2014
28
Somatic embryogenesis, tetraploidy, and variant leaf morphology in transgenic diploid strawberry (Fragaria vesca subspecies vesca 'Hawaii 4'). ( 24418064 )
2014
29
Tetraploidy and tumor development. ( 25526024 )
2014
30
Cre recombinase induces DNA damage and tetraploidy in the absence of LoxP sites. ( 24280829 )
2013
31
Genetic evidence for p75NTR-dependent tetraploidy in cortical projection neurons from adult mice. ( 23616554 )
2013
32
Two cases of near-tetraploidy in acute leukemias of ambiguous lineage. ( 24003431 )
2013
33
Tetraploidy in hydatidiform moles. ( 23633551 )
2013
34
Immunological control of cell cycle aberrations for the avoidance of oncogenesis: the case of tetraploidy. ( 23651194 )
2013
35
Tetraploidy with double t(15;17)(q22;q21) in acute promyelocytic leukaemia. ( 23250036 )
2013
36
Constitutive Cdk2 activity promotes aneuploidy while altering the spindle assembly and tetraploidy checkpoints. ( 23321641 )
2013
37
Tetraploidy with double t(11;18) of recurrent MALT lymphoma in buccal mucosa: a case report. ( 22669146 )
2012
38
A framework genetic map for Miscanthus sinensis from RNAseq-based markers shows recent tetraploidy. ( 22524439 )
2012
39
Doubling the deck: Tetraploidy induces chromosome shuffling and cancer. ( 22918235 )
2012
40
Tetraploidy in BRCA2 breast tumours. ( 22133571 )
2012
41
Rare tetraploidy with large 5q deletion in acute myeloid leukemia with myelodysplasia-related changes (AML-MRC). ( 22284693 )
2012
42
Reed-Sternberg-like cells of ALK-positive anaplastic large cell lymphoma with near-tetraploidy. ( 22250643 )
2012
43
A case of complete tetraploidy in amniocentesis with normal karyotype in subsequent cordocentesis. ( 27625831 )
2012
44
Semen analysis by electron and fluorescence microscopy in a case of partial hydatidiform mole reveals a high incidence of abnormal morphology, diploidy, and tetraploidy. ( 21354560 )
2011
45
AML associated with extensive erythrophagocytosis and tetraploidy. ( 21790789 )
2011
46
Genomic landscape of the Alzheimer's disease brain: chromosome instability--aneuploidy, but not tetraploidy--mediates neurodegeneration. ( 21135562 )
2011
47
Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses. ( 20676750 )
2010
48
Somatic tetraploidy in specific chick retinal ganglion cells induced by nerve growth factor. ( 20018664 )
2010
49
Enlarged and prominent nucleus may be indicative of tetraploidy: a laboratory study of a rare near-tetraploidy in a child patient with acute myelogenous leukemia AML-M4. ( 19816206 )
2010
50
Near-tetraploidy clone can evolve from a hyperdiploidy clone and cause resistance to lenalidomide and bortezomib in a multiple myeloma patient. ( 20138360 )
2010

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 cytosol GO:0005829 9.91 AURKA AURKB BRCA2 CDK2 LATS1 NGFR
2 nucleoplasm GO:0005654 9.88 AURKA AURKB BRCA2 CDK2 NGFR
3 centrosome GO:0005813 9.63 AURKA BRCA2 CDK2
4 cytoskeleton GO:0005856 9.55 AURKA AURKB BRCA2 CDK2 LATS1
5 spindle microtubule GO:0005876 9.4 AURKA AURKB
6 spindle midzone GO:0051233 9.37 AURKA AURKB
7 condensed nuclear chromosome, centromeric region GO:0000780 9.32 AURKA AURKB
8 spindle pole centrosome GO:0031616 9.26 AURKA AURKB
9 microtubule organizing center GO:0005815 9.26 AURKA BRCA2 CDK2 LATS1
10 chromosome passenger complex GO:0032133 8.62 AURKA AURKB

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.78 AURKA AURKB CDK2 LATS1
2 protein phosphorylation GO:0006468 9.73 AURKA AURKB CDK2 LATS1
3 cell division GO:0051301 9.62 AURKA AURKB CDK2 LATS1
4 meiotic cell cycle GO:0051321 9.56 AURKA CDK2
5 G1/S transition of mitotic cell cycle GO:0000082 9.55 CDK2 LATS1
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.54 AURKA CDK2
7 G2/M transition of mitotic cell cycle GO:0000086 9.54 AURKA CDK2 LATS1
8 negative regulation of protein binding GO:0032091 9.52 AURKA AURKB
9 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.51 AURKA CDK2
10 mitotic spindle organization GO:0007052 9.49 AURKA AURKB
11 spindle organization GO:0007051 9.46 AURKA AURKB
12 regulation of signal transduction by p53 class mediator GO:1901796 9.43 AURKA AURKB CDK2
13 centrosome duplication GO:0051298 9.4 BRCA2 CDK2
14 regulation of cytokinesis GO:0032465 9.33 AURKA AURKB BRCA2
15 anaphase-promoting complex-dependent catabolic process GO:0031145 9.13 AURKA AURKB CDK2
16 cell cycle GO:0007049 9.02 AURKA AURKB BRCA2 CDK2 LATS1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.73 AURKA AURKB CDK2 LATS1
2 ATP binding GO:0005524 9.71 AURKA AURKB CDK2 LATS1
3 kinase activity GO:0016301 9.62 AURKA AURKB CDK2 LATS1
4 protein kinase activity GO:0004672 9.56 AURKA AURKB CDK2 LATS1
5 protein serine/threonine kinase activity GO:0004674 9.46 AURKA AURKB CDK2 LATS1
6 protein serine/threonine/tyrosine kinase activity GO:0004712 9.37 AURKA AURKB
7 nucleotide binding GO:0000166 9.26 AURKA AURKB CDK2 LATS1
8 histone serine kinase activity GO:0035174 8.62 AURKA AURKB

Sources for Tetraploidy

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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