Aliases & Classifications for Tetraploidy

MalaCards integrated aliases for Tetraploidy:

Name: Tetraploidy 49 55 69
Tetraploidy Syndrome 49

Classifications:



External Ids:

Orphanet 55 ORPHA3305
MESH via Orphanet 42 D057891
UMLS via Orphanet 70 C0333694
ICD10 via Orphanet 33 Q92.7
UMLS 69 C0333694

Summaries for Tetraploidy

MalaCards based summary : Tetraploidy, also known as tetraploidy syndrome, is related to neuroblastoma and leukemia, and has symptoms including hydronephrosis, cleft palate and microcephaly. An important gene associated with Tetraploidy is LATS1 (Large Tumor Suppressor Kinase 1), and among its related pathways/superpathways are Pathways in cancer and TNFR1 Pathway. 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 Synthetic lethal with cisplatin and cellular

Related Diseases for Tetraploidy

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

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 neuroblastoma 28.8 NGFR PARP1 TP53
2 leukemia 10.4
3 myeloid leukemia 10.2
4 leukemia, acute myeloid 10.2
5 triploidy 10.0
6 neuronitis 10.0
7 triple-receptor negative breast cancer 10.0 NOTCH1 PARP1
8 soft tissue sarcoma 10.0 LATS1 TP53
9 uterine corpus serous adenocarcinoma 9.9 BRCA2 TP53
10 fallopian tube adenocarcinoma 9.9 BRCA2 TP53
11 acute leukemia 9.9
12 synchronous bilateral breast carcinoma 9.9 BRCA2 TP53
13 glycogen-rich clear cell breast carcinoma 9.9 BRCA2 TP53
14 diabetic neuropathy 9.9 NGFR PARP1
15 primary peritoneal carcinoma 9.9 BRCA2 TP53
16 mutagen sensitivity 9.9 BRCA2 TP53
17 acinar cell carcinoma 9.9 BRCA2 TP53
18 bladder transitional cell papilloma 9.9 PARP1 TP53
19 pre-malignant neoplasm 9.9 BRCA2 TP53
20 fallopian tube carcinoma 9.9 BRCA2 TP53
21 immunodeficiency-centromeric instability-facial anomalies syndrome 1 9.9
22 alzheimer disease 9.9
23 lymphoma 9.9
24 colorectal cancer 9.9
25 female breast cancer 9.9 BRCA2 TP53
26 malignant ovarian surface epithelial-stromal neoplasm 9.9 BRCA2 TP53
27 ovary epithelial cancer 9.9 BRCA2 TP53
28 cellular schwannoma 9.9 NGFR TP53
29 hereditary breast ovarian cancer syndrome 9.9 BRCA2 TP53
30 breast carcinoma in situ 9.8 BRCA2 TP53
31 ocular cancer 9.8 BRCA2 TP53
32 splenic diffuse red pulp small b-cell lymphoma 9.8 NOTCH1 TP53
33 sporadic breast cancer 9.8 BRCA2 TP53
34 invasive bladder transitional cell carcinoma 9.8 NOTCH1 TP53
35 ductal carcinoma in situ 9.8 BRCA2 TP53
36 bone squamous cell carcinoma 9.8 NOTCH1 TP53
37 pancreas adenocarcinoma 9.8 BRCA2 TP53
38 spinal cord astrocytoma 9.8 NOTCH1 TP53
39 richter's syndrome 9.8 NOTCH1 TP53
40 hydatidiform mole, recurrent, 1 9.8
41 myeloma, multiple 9.8
42 aging 9.8
43 lymphoblastic leukemia 9.8
44 myelodysplastic syndrome 9.8
45 ovarian cancer 1 9.8 BRCA2 TP53
46 li-fraumeni syndrome 9.7 BRCA2 TP53
47 breast adenocarcinoma 9.7 PARP1 TP53
48 familial adenomatous polyposis 1 9.6
49 anaplastic large cell lymphoma 9.6
50 mediastinitis 9.6

Graphical network of the top 20 diseases related to Tetraploidy:



Diseases related to Tetraploidy

Symptoms & Phenotypes for Tetraploidy

Human phenotypes related to Tetraploidy:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
2 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
3 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 short philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000322
5 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
6 preauricular skin tag 55 31 occasional (7.5%) Occasional (29-5%) HP:0000384
7 convex nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000444
8 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
9 arnold-chiari malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002308
10 abnormality of chromosome segregation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002916
11 radial club hand 55 31 frequent (33%) Frequent (79-30%) HP:0004059
12 biparietal narrowing 55 31 hallmark (90%) Very frequent (99-80%) HP:0004422
13 aplasia/hypoplasia of the lungs 55 31 occasional (7.5%) Occasional (29-5%) HP:0006703
14 aplasia/hypoplasia affecting the eye 55 31 occasional (7.5%) Occasional (29-5%) HP:0008056
15 renal hypoplasia/aplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008678
16 aplasia/hypoplasia of the thymus 55 31 occasional (7.5%) Occasional (29-5%) HP:0010515
17 hypoplasia of the ear cartilage 55 31 frequent (33%) Frequent (79-30%) HP:0100720

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with cisplatin GR00101-A-1 8.62 BRCA2 NOTCH1

MGI Mouse Phenotypes related to Tetraploidy:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.99 NGFR TP53 BRCA2 NOTCH1 LATS1 PARP1
2 growth/size/body region MP:0005378 9.95 PARP1 NGFR TP53 BRCA2 NOTCH1 LATS1
3 homeostasis/metabolism MP:0005376 9.91 TP53 LATS1 PARP1 NGFR BRCA2 NOTCH1
4 integument MP:0010771 9.88 NGFR TP53 BRCA2 NOTCH1 LATS1 PARP1
5 digestive/alimentary MP:0005381 9.8 TP53 NGFR BRCA2 NOTCH1
6 mortality/aging MP:0010768 9.8 TP53 LATS1 PARP1 NGFR BRCA2 NOTCH1
7 hearing/vestibular/ear MP:0005377 9.76 PARP1 NGFR TP53 NOTCH1
8 liver/biliary system MP:0005370 9.67 TP53 LATS1 NGFR NOTCH1
9 nervous system MP:0003631 9.63 NGFR TP53 BRCA2 NOTCH1 LATS1 PARP1
10 neoplasm MP:0002006 9.56 TP53 BRCA2 NOTCH1 LATS1
11 normal MP:0002873 9.35 NGFR TP53 BRCA2 NOTCH1 LATS1
12 renal/urinary system MP:0005367 8.92 TP53 PARP1 NGFR NOTCH1

Drugs & Therapeutics for Tetraploidy

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

(show all 9)
# 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 Central Nervous System Depressants Phase 3
4 Gastrointestinal Agents Phase 3
5 Antacids Phase 3
6 Protective Agents Phase 3
7 Anti-Ulcer Agents Phase 3
8 Proton pump inhibitors Phase 3
9 Antioxidants Phase 3

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

Search NIH Clinical Center for Tetraploidy

Genetic Tests for Tetraploidy

Anatomical Context for Tetraploidy

MalaCards organs/tissues related to Tetraploidy:

38
Myeloid, Skin, Colon, Eye, Thymus, Lung, Ovary

Publications for Tetraploidy

Articles related to Tetraploidy:

(show top 50) (show all 202)
# Title Authors Year
1
Tetraploidy acute myeloid leukaemia after chromosome 16 inversion. ( 28331025 )
2017
2
Near Tetraploidy Acute Myeloid Leukemia in Long-term Remission with Persistent Clonal Hematopoiesis with del(20)(q12q13). ( 29093395 )
2017
3
Neuronal tetraploidy in Alzheimer and aging. ( 29070731 )
2017
4
The characterisation of microsatellite markers reveals tetraploidy in the Greater Water Parsnip, Sium latifolium (Apiaceae). ( 28606172 )
2017
5
Near-tetraploidy is associated with Richter transformation in chronic lymphocytic leukemia patients receiving ibrutinib. ( 29296799 )
2017
6
Genetic differentiation and spatiotemporal history of diploidy and tetraploidy of<i>Clintonia udensis</i>. ( 29238551 )
2017
7
Tetraploidy enhances the ability to exclude chloride from leaves in carrizo citrange seedlings. ( 27589221 )
2016
8
Aneuploidy and Tetraploidy as Distinct Patterns During Melanomagenesis. ( 27466867 )
2016
9
A female newborn having mosaicism with near-tetraploidy and trisomy 18. ( 26789424 )
2016
10
Tetraploidy Enhances Boron-Excess Tolerance in Carrizo Citrange (Citrus sinensis L. Osb. A9 Poncirus trifoliata L. Raf.). ( 27252717 )
2016
11
Erythrophagocytosis in T-cell type acute lymphoblastic leukaemia with near-tetraploidy. ( 27520437 )
2016
12
Tetraploidy/near-tetraploidy acute myeloid leukemia. ( 27951415 )
2016
13
Effects of tetraploidy induction on rainbow trout (Oncorhynchus mykiss, Walbaum, 1792) proteome at early stages of development. ( 27561891 )
2016
14
BILATERAL OPTIC NERVE COLOBOMAS IN INFANT WITH TETRAPLOIDY. ( 26579595 )
2016
15
Tetraploidy and CIN: a dangerous combination. ( 26517196 )
2015
16
Clinicopathological analysis of near-tetraploidy/tetraploidy acute myeloid leukaemia. ( 25563333 )
2015
17
TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer. ( 25916844 )
2015
18
Stimulation of Cell Elongation by Tetraploidy in Hypocotyls of Dark-Grown Arabidopsis Seedlings. ( 26244498 )
2015
19
Cytokinetic failure-induced tetraploidy develops into aneuploidy, triggering skin aging in phospho-vimentin deficient mice. ( 25847236 )
2015
20
Tetraploidy acute promyelocytic leuemia with double t(15;17)/PML-RARA, a case report with review of literature. ( 25197424 )
2014
21
Somatic embryogenesis, tetraploidy, and variant leaf morphology in transgenic diploid strawberry (Fragaria vesca subspecies vesca 'Hawaii 4'). ( 24418064 )
2014
22
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
23
Tetraploidy and tumor development. ( 25526024 )
2014
24
Genetic evidence for p75NTR-dependent tetraploidy in cortical projection neurons from adult mice. ( 23616554 )
2013
25
Cre recombinase induces DNA damage and tetraploidy in the absence of LoxP sites. ( 24280829 )
2013
26
Immunological control of cell cycle aberrations for the avoidance of oncogenesis: the case of tetraploidy. ( 23651194 )
2013
27
Constitutive Cdk2 activity promotes aneuploidy while altering the spindle assembly and tetraploidy checkpoints. ( 23321641 )
2013
28
Tetraploidy in hydatidiform moles. ( 23633551 )
2013
29
Tetraploidy with double t(15;17)(q22;q21) in acute promyelocytic leukaemia. ( 23250036 )
2013
30
Two cases of near-tetraploidy in acute leukemias of ambiguous lineage. ( 24003431 )
2013
31
Tetraploidy with double t(11;18) of recurrent MALT lymphoma in buccal mucosa: a case report. ( 22669146 )
2012
32
Tetraploidy in BRCA2 breast tumours. ( 22133571 )
2012
33
Reed-Sternberg-like cells of ALK-positive anaplastic large cell lymphoma with near-tetraploidy. ( 22250643 )
2012
34
Doubling the deck: Tetraploidy induces chromosome shuffling and cancer. ( 22918235 )
2012
35
Rare tetraploidy with large 5q deletion in acute myeloid leukemia with myelodysplasia-related changes (AML-MRC). ( 22284693 )
2012
36
A framework genetic map for Miscanthus sinensis from RNAseq-based markers shows recent tetraploidy. ( 22524439 )
2012
37
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
38
AML associated with extensive erythrophagocytosis and tetraploidy. ( 21790789 )
2011
39
Genomic landscape of the Alzheimer's disease brain: chromosome instability--aneuploidy, but not tetraploidy--mediates neurodegeneration. ( 21135562 )
2011
40
DNA lesions induced by replication stress trigger mitotic aberration and tetraploidy development. ( 20098673 )
2010
41
Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses. ( 20676750 )
2010
42
Persistent telomere damage induces bypass of mitosis and tetraploidy. ( 20371347 )
2010
43
Somatic tetraploidy in specific chick retinal ganglion cells induced by nerve growth factor. ( 20018664 )
2010
44
Near-tetraploidy clone can evolve from a hyperdiploidy clone and cause resistance to lenalidomide and bortezomib in a multiple myeloma patient. ( 20138360 )
2010
45
A novel hypothesis for Alzheimer disease based on neuronal tetraploidy induced by p75 (NTR). ( 20436277 )
2010
46
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
47
Clonal evolution with double Ph followed by tetraploidy in imatinib-treated chronic myeloid leukemia with e19a2 transcript in transformation. ( 20417871 )
2010
48
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature. ( 20305547 )
2010
49
Somatic tetraploidy in vertebrate neurons: Implications in physiology and pathology. ( 20585523 )
2010
50
Following tetraploidy in maize, a short deletion mechanism removed genes preferentially from one of the two homologs. ( 20613864 )
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 12.38 BRCA2 NOTCH1 TP53
2
Show member pathways
12.36 NGFR PARP1 TP53
3
Show member pathways
12.31 NGFR PARP1 TP53
4
Show member pathways
12.21 BRCA2 NOTCH1 TP53
5
Show member pathways
11.94 BRCA2 PARP1 TP53
6
Show member pathways
11.38 BRCA2 TP53
7 11.27 BRCA2 LATS1 TP53
8
Show member pathways
11.14 NGFR TP53
9 11.08 NOTCH1 TP53
10 10.64 NOTCH1 PARP1

GO Terms for Tetraploidy

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.69 BRCA2 PARP1 TP53
2 double-strand break repair via homologous recombination GO:0000724 9.54 BRCA2 PARP1
3 keratinocyte differentiation GO:0030216 9.52 LATS1 NOTCH1
4 double-strand break repair GO:0006302 9.49 BRCA2 PARP1
5 nucleotide-excision repair GO:0006289 9.48 BRCA2 TP53
6 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.46 BRCA2 TP53
7 cell aging GO:0007569 9.43 BRCA2 TP53
8 cellular response to amyloid-beta GO:1904646 9.4 NGFR PARP1
9 positive regulation of protein localization to nucleus GO:1900182 9.37 NGFR PARP1
10 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.32 NGFR TP53
11 response to X-ray GO:0010165 9.26 BRCA2 TP53
12 positive regulation of apoptotic process GO:0043065 9.26 LATS1 NGFR NOTCH1 TP53
13 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.16 BRCA2 TP53
14 response to gamma radiation GO:0010332 8.8 BRCA2 PARP1 TP53

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.33 LATS1 PARP1 TP53
2 enzyme binding GO:0019899 9.13 NOTCH1 PARP1 TP53
3 estrogen receptor binding GO:0030331 8.62 LATS1 PARP1

Sources for Tetraploidy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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