MCID: TTR011
MIFTS: 47

Tetraploidy

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Tetraploidy

MalaCards integrated aliases for Tetraploidy:

Name: Tetraploidy 53 59 73
Tetraploidy Syndrome 53

Classifications:



External Ids:

Orphanet 59 ORPHA3305
MESH via Orphanet 45 D057891
UMLS via Orphanet 74 C0333694
ICD10 via Orphanet 34 Q92.7
UMLS 73 C0333694

Summaries for Tetraploidy

NIH Rare Diseases : 53 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 DNA Damage and Hippo signaling pathway. The drugs Omeprazole and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include myeloid, lung and skin, and related phenotypes are microcephaly and cleft palate

Wikipedia : 76 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 all 48)
# Related Disease Score Top Affiliating Genes
1 leukemia 10.5
2 myeloid leukemia 10.4
3 leukemia, acute myeloid 10.4
4 triploidy 10.2
5 lymphocytic leukemia 10.1
6 alzheimer disease 10.0
7 colorectal cancer 10.0
8 neuroblastoma 10.0
9 aging 10.0
10 leukemia, acute lymphoblastic 10.0
11 acute leukemia 10.0
12 lymphoma 10.0
13 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.0
14 myeloma, multiple 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 hydrops fetalis, nonimmune, and/or atrial septal defect 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

Graphical network of the top 20 diseases related to Tetraploidy:



Diseases related to Tetraploidy

Symptoms & Phenotypes for Tetraploidy

Human phenotypes related to Tetraploidy:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
2 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
4 biparietal narrowing 59 32 hallmark (90%) Very frequent (99-80%) HP:0004422
5 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
6 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
7 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
8 arnold-chiari malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002308
9 hypoplasia of the ear cartilage 59 32 frequent (33%) Frequent (79-30%) HP:0100720
10 aplasia/hypoplasia of the thymus 59 32 occasional (7.5%) Occasional (29-5%) HP:0010515
11 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
12 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
13 aplasia/hypoplasia affecting the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0008056
14 hydronephrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000126
15 aplasia/hypoplasia of the lungs 59 32 occasional (7.5%) Occasional (29-5%) HP:0006703
16 abnormality of chromosome segregation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002916
17 radial club hand 59 32 frequent (33%) Frequent (79-30%) HP:0004059

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.8 AURKB LATS1
2 Decreased substrate adherent cell growth GR00193-A-4 8.8 AURKB

MGI Mouse Phenotypes related to Tetraploidy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 AURKB BRCA2 GFI1 LATS1 TP73
2 mortality/aging MP:0010768 9.43 AURKB BRCA2 GFI1 GSS LATS1 TP73
3 neoplasm MP:0002006 8.92 AURKB BRCA2 LATS1 TP73

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 Anti-Ulcer Agents Phase 3
4 Proton Pump Inhibitors Phase 3
5 Antacids Phase 3
6 Central Nervous System Depressants Phase 3
7 Antioxidants Phase 3
8 Protective Agents Phase 3
9 Gastrointestinal Agents Phase 3
10
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
11
Methylphenidate Approved, Investigational Phase 2 113-45-1 4158
12
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
13 Dopamine Agents Phase 2
14 Neurotransmitter Agents Phase 2
15 Neurotransmitter Uptake Inhibitors Phase 2
16 Dopamine Uptake Inhibitors Phase 2
17 Central Nervous System Stimulants 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:

41
Myeloid, Lung, Skin, Bone, Colon, Ovary, B Cells

Publications for Tetraploidy

Articles related to Tetraploidy:

(show top 50) (show all 210)
# Title Authors Year
1
Tetraploidy in cancer and its possible link to aging. ( 29949679 )
2018
2
Genome Editing and the Problem of Tetraploidy in Cell Modeling of the Genetic Form of Parkinsonism. ( 30472942 )
2018
3
Tetraploidy-associated centrosome overduplication in mouse early embryos. ( 30534347 )
2018
4
Nucleolar Dominance in a Tetraploidy Hybrid Lineage Derived From Carassius auratus red var. () × Megalobrama amblycephala (). ( 30319686 )
2018
5
Genetic differentiation and spatiotemporal history of diploidy and tetraploidy of<i>Clintonia udensis</i>. ( 29238551 )
2017
6
Near-tetraploidy is associated with Richter transformation in chronic lymphocytic leukemia patients receiving ibrutinib. ( 29296799 )
2017
7
Near Tetraploidy Acute Myeloid Leukemia in Long-term Remission with Persistent Clonal Hematopoiesis with del(20)(q12q13). ( 29093395 )
2017
8
Tetraploidy acute myeloid leukaemia after chromosome 16 inversion. ( 28331025 )
2017
9
The characterisation of microsatellite markers reveals tetraploidy in the Greater Water Parsnip, Sium latifolium (Apiaceae). ( 28606172 )
2017
10
Neuronal tetraploidy in Alzheimer and aging. ( 29070731 )
2017
11
Tetraploidy/near-tetraploidy acute myeloid leukemia. ( 27951415 )
2016
12
A female newborn having mosaicism with near-tetraploidy and trisomy 18. ( 26789424 )
2016
13
Effects of tetraploidy induction on rainbow trout (Oncorhynchus mykiss, Walbaum, 1792) proteome at early stages of development. ( 27561891 )
2016
14
Erythrophagocytosis in T-cell type acute lymphoblastic leukaemia with near-tetraploidy. ( 27520437 )
2016
15
BILATERAL OPTIC NERVE COLOBOMAS IN INFANT WITH TETRAPLOIDY. ( 26579595 )
2016
16
Tetraploidy Enhances Boron-Excess Tolerance in Carrizo Citrange (Citrus sinensis L. Osb. A9 Poncirus trifoliata L. Raf.). ( 27252717 )
2016
17
Tetraploidy enhances the ability to exclude chloride from leaves in carrizo citrange seedlings. ( 27589221 )
2016
18
Aneuploidy and Tetraploidy as Distinct Patterns During Melanomagenesis. ( 27466867 )
2016
19
Stimulation of Cell Elongation by Tetraploidy in Hypocotyls of Dark-Grown Arabidopsis Seedlings. ( 26244498 )
2015
20
Tetraploidy and CIN: a dangerous combination. ( 26517196 )
2015
21
TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer. ( 25916844 )
2015
22
Clinicopathological analysis of near-tetraploidy/tetraploidy acute myeloid leukaemia. ( 25563333 )
2015
23
Cytokinetic failure-induced tetraploidy develops into aneuploidy, triggering skin aging in phospho-vimentin deficient mice. ( 25847236 )
2015
24
Tetraploidy acute promyelocytic leuemia with double t(15;17)/PML-RARA, a case report with review of literature. ( 25197424 )
2014
25
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
26
Somatic embryogenesis, tetraploidy, and variant leaf morphology in transgenic diploid strawberry (Fragaria vesca subspecies vesca 'Hawaii 4'). ( 24418064 )
2014
27
Tetraploidy and tumor development. ( 25526024 )
2014
28
Cre recombinase induces DNA damage and tetraploidy in the absence of LoxP sites. ( 24280829 )
2013
29
Genetic evidence for p75NTR-dependent tetraploidy in cortical projection neurons from adult mice. ( 23616554 )
2013
30
Two cases of near-tetraploidy in acute leukemias of ambiguous lineage. ( 24003431 )
2013
31
Tetraploidy in hydatidiform moles. ( 23633551 )
2013
32
Immunological control of cell cycle aberrations for the avoidance of oncogenesis: the case of tetraploidy. ( 23651194 )
2013
33
Tetraploidy with double t(15;17)(q22;q21) in acute promyelocytic leukaemia. ( 23250036 )
2013
34
Constitutive Cdk2 activity promotes aneuploidy while altering the spindle assembly and tetraploidy checkpoints. ( 23321641 )
2013
35
Tetraploidy with double t(11;18) of recurrent MALT lymphoma in buccal mucosa: a case report. ( 22669146 )
2012
36
A framework genetic map for Miscanthus sinensis from RNAseq-based markers shows recent tetraploidy. ( 22524439 )
2012
37
Doubling the deck: Tetraploidy induces chromosome shuffling and cancer. ( 22918235 )
2012
38
Tetraploidy in BRCA2 breast tumours. ( 22133571 )
2012
39
Rare tetraploidy with large 5q deletion in acute myeloid leukemia with myelodysplasia-related changes (AML-MRC). ( 22284693 )
2012
40
Reed-Sternberg-like cells of ALK-positive anaplastic large cell lymphoma with near-tetraploidy. ( 22250643 )
2012
41
A case of complete tetraploidy in amniocentesis with normal karyotype in subsequent cordocentesis. ( 27625831 )
2012
42
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
43
AML associated with extensive erythrophagocytosis and tetraploidy. ( 21790789 )
2011
44
Genomic landscape of the Alzheimer's disease brain: chromosome instability--aneuploidy, but not tetraploidy--mediates neurodegeneration. ( 21135562 )
2011
45
Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses. ( 20676750 )
2010
46
Somatic tetraploidy in specific chick retinal ganglion cells induced by nerve growth factor. ( 20018664 )
2010
47
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
48
Near-tetraploidy clone can evolve from a hyperdiploidy clone and cause resistance to lenalidomide and bortezomib in a multiple myeloma patient. ( 20138360 )
2010
49
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature. ( 20305547 )
2010
50
Persistent telomere damage induces bypass of mitosis and tetraploidy. ( 20371347 )
2010

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:

# Super pathways Score Top Affiliating Genes
1 11.4 AURKB BRCA2 LATS1 TP73
2 11.34 LATS1 TP73
3 10.52 AURKB BRCA2

GO Terms for Tetraploidy

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

# Name GO ID Score Top Affiliating Genes
1 regulation of signal transduction by p53 class mediator GO:1901796 9.37 AURKB TP73
2 hemopoiesis GO:0030097 9.32 BRCA2 GFI1
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.26 BRCA2 TP73
4 regulation of cytokinesis GO:0032465 9.16 AURKB BRCA2
5 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 8.96 BRCA2 TP73
6 cell cycle GO:0007049 8.92 AURKB BRCA2 LATS1 TP73

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.02 AURKB GFI1 GSS LATS1 TP73

Sources for Tetraploidy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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