MCID: TTR011
MIFTS: 41

Tetraploidy malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Tetraploidy

Aliases & Descriptions for Tetraploidy:

Name: Tetraploidy 50 56 69
Tetraploidy Syndrome 50

Classifications:



External Ids:

Orphanet 56 ORPHA3305
MESH via Orphanet 43 D057891
UMLS via Orphanet 70 C0333694
ICD10 via Orphanet 34 Q92.7

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 TNFR1 Pathway and DNA Damage. 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 cellular and integument

Related Diseases for Tetraploidy

Graphical network of the top 20 diseases related to Tetraploidy:



Diseases related to Tetraploidy

Symptoms & Phenotypes for Tetraploidy

Human phenotypes related to Tetraploidy:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
2 cleft palate 56 32 Occasional (29-5%) HP:0000175
3 microcephaly 56 32 Very frequent (99-80%) HP:0000252
4 short philtrum 56 32 Frequent (79-30%) HP:0000322
5 micrognathia 56 32 Frequent (79-30%) HP:0000347
6 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
7 convex nasal ridge 56 32 Very frequent (99-80%) HP:0000444
8 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
9 arnold-chiari malformation 56 32 Occasional (29-5%) HP:0002308
10 abnormality of chromosome segregation 56 32 Very frequent (99-80%) HP:0002916
11 radial club hand 56 32 Frequent (79-30%) HP:0004059
12 biparietal narrowing 56 32 Very frequent (99-80%) HP:0004422
13 aplasia/hypoplasia of the lungs 56 32 Occasional (29-5%) HP:0006703
14 aplasia/hypoplasia affecting the eye 56 32 Occasional (29-5%) HP:0008056
15 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
16 aplasia/hypoplasia of the thymus 56 32 Occasional (29-5%) HP:0010515
17 hypoplasia of the ear cartilage 56 32 Frequent (79-30%) HP:0100720

MGI Mouse Phenotypes related to Tetraploidy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 BRCA2 GFI1 LATS1 NGFR PARP1 PLK1
2 integument MP:0010771 9.46 BRCA2 LATS1 NGFR PARP1
3 mortality/aging MP:0010768 9.43 BRCA2 GFI1 LATS1 NGFR PARP1 PLK1
4 nervous system MP:0003631 9.02 BRCA2 GFI1 LATS1 NGFR PARP1

Drugs & Therapeutics for Tetraploidy

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

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Melatonin Associated to Acid Inhibition for Chemoprevention in Barret Esophagus: a Pilot Study Unknown status NCT01566474 Phase 3

Search NIH Clinical Center for Tetraploidy

Genetic Tests for Tetraploidy

Anatomical Context for Tetraploidy

MalaCards organs/tissues related to Tetraploidy:

39
Myeloid, Skin, Colon, Thymus, Lung, Eye, Ovary

Publications for Tetraploidy

Articles related to Tetraploidy:

(show top 50) (show all 196)
id Title Authors Year
1
Tetraploidy Enhances Boron-Excess Tolerance in Carrizo Citrange (Citrus sinensis L. Osb. A9 Poncirus trifoliata L. Raf.). ( 27252717 )
2016
2
Effects of tetraploidy induction on rainbow trout (Oncorhynchus mykiss, Walbaum, 1792) proteome at early stages of development. ( 27561891 )
2016
3
Tetraploidy enhances the ability to exclude chloride from leaves in carrizo citrange seedlings. ( 27589221 )
2016
4
Erythrophagocytosis in T-cell type acute lymphoblastic leukaemia with near-tetraploidy. ( 27520437 )
2016
5
A female newborn having mosaicism with near-tetraploidy and trisomy 18. ( 26789424 )
2016
6
Tetraploidy/near-tetraploidy acute myeloid leukemia. ( 27951415 )
2016
7
BILATERAL OPTIC NERVE COLOBOMAS IN INFANT WITH TETRAPLOIDY. ( 26579595 )
2016
8
Aneuploidy and Tetraploidy as Distinct Patterns During Melanomagenesis. ( 27466867 )
2016
9
Stimulation of Cell Elongation by Tetraploidy in Hypocotyls of Dark-Grown Arabidopsis Seedlings. ( 26244498 )
2015
10
Tetraploidy and CIN: a dangerous combination. ( 26517196 )
2015
11
Clinicopathological analysis of near-tetraploidy/tetraploidy acute myeloid leukaemia. ( 25563333 )
2015
12
Cytokinetic failure-induced tetraploidy develops into aneuploidy, triggering skin aging in phospho-vimentin deficient mice. ( 25847236 )
2015
13
TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer. ( 25916844 )
2015
14
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
15
Tetraploidy and tumor development. ( 25526024 )
2014
16
Tetraploidy acute promyelocytic leuemia with double t(15;17)/PML-RARA, a case report with review of literature. ( 25197424 )
2014
17
Somatic embryogenesis, tetraploidy, and variant leaf morphology in transgenic diploid strawberry (Fragaria vesca subspecies vesca 'Hawaii 4'). ( 24418064 )
2014
18
Cre recombinase induces DNA damage and tetraploidy in the absence of LoxP sites. ( 24280829 )
2013
19
Immunological control of cell cycle aberrations for the avoidance of oncogenesis: the case of tetraploidy. ( 23651194 )
2013
20
Constitutive Cdk2 activity promotes aneuploidy while altering the spindle assembly and tetraploidy checkpoints. ( 23321641 )
2013
21
Tetraploidy with double t(15;17)(q22;q21) in acute promyelocytic leukaemia. ( 23250036 )
2013
22
Genetic evidence for p75NTR-dependent tetraploidy in cortical projection neurons from adult mice. ( 23616554 )
2013
23
Tetraploidy in hydatidiform moles. ( 23633551 )
2013
24
Two cases of near-tetraploidy in acute leukemias of ambiguous lineage. ( 24003431 )
2013
25
Tetraploidy in BRCA2 breast tumours. ( 22133571 )
2012
26
Doubling the deck: Tetraploidy induces chromosome shuffling and cancer. ( 22918235 )
2012
27
Tetraploidy with double t(11;18) of recurrent MALT lymphoma in buccal mucosa: a case report. ( 22669146 )
2012
28
Rare tetraploidy with large 5q deletion in acute myeloid leukemia with myelodysplasia-related changes (AML-MRC). ( 22284693 )
2012
29
A framework genetic map for Miscanthus sinensis from RNAseq-based markers shows recent tetraploidy. ( 22524439 )
2012
30
Reed-Sternberg-like cells of ALK-positive anaplastic large cell lymphoma with near-tetraploidy. ( 22250643 )
2012
31
Genomic landscape of the Alzheimer's disease brain: chromosome instability--aneuploidy, but not tetraploidy--mediates neurodegeneration. ( 21135562 )
2011
32
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
33
AML associated with extensive erythrophagocytosis and tetraploidy. ( 21790789 )
2011
34
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
35
A novel hypothesis for Alzheimer disease based on neuronal tetraploidy induced by p75 (NTR). ( 20436277 )
2010
36
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature. ( 20305547 )
2010
37
Somatic tetraploidy in vertebrate neurons: Implications in physiology and pathology. ( 20585523 )
2010
38
Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses. ( 20676750 )
2010
39
Somatic tetraploidy in specific chick retinal ganglion cells induced by nerve growth factor. ( 20018664 )
2010
40
Persistent telomere damage induces bypass of mitosis and tetraploidy. ( 20371347 )
2010
41
Near-tetraploidy clone can evolve from a hyperdiploidy clone and cause resistance to lenalidomide and bortezomib in a multiple myeloma patient. ( 20138360 )
2010
42
DNA lesions induced by replication stress trigger mitotic aberration and tetraploidy development. ( 20098673 )
2010
43
Clonal evolution with double Ph followed by tetraploidy in imatinib-treated chronic myeloid leukemia with e19a2 transcript in transformation. ( 20417871 )
2010
44
Following tetraploidy in maize, a short deletion mechanism removed genes preferentially from one of the two homologs. ( 20613864 )
2010
45
Degenerate tetraploidy was established before bdelloid rotifer families diverged. ( 18996928 )
2009
46
Single institute study of FLT3 mutation in acute myeloid leukemia with near tetraploidy in Serbia. ( 19700852 )
2009
47
A reevaluation of tetraploidy in the Alzheimer's disease brain. ( 19738367 )
2009
48
A non-mosaic tetraploidy in the long-term culture of chorionic villi with a trisomy 13 in concomitant amniocytes. ( 19222025 )
2009
49
Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction? ( 19445731 )
2009
50
Tetraploidy triggers mitochondria. ( 19377300 )
2009

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:

id Name GO ID Score Top Affiliating Genes
1 spindle pole GO:0000922 8.96 LATS1 PLK1
2 microtubule organizing center GO:0005815 8.8 BRCA2 LATS1 PLK1

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

id Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.63 BRCA2 LATS1 PLK1
2 hemopoiesis GO:0030097 9.43 BRCA2 GFI1
3 double-strand break repair via homologous recombination GO:0000724 9.4 BRCA2 PARP1
4 double-strand break repair GO:0006302 9.37 BRCA2 PARP1
5 negative regulation of neuron projection development GO:0010977 9.32 GFI1 NGFR
6 cytokinesis GO:0000910 9.26 BRCA2 PLK1
7 response to gamma radiation GO:0010332 9.16 BRCA2 PARP1
8 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 8.96 LATS1 PLK1
9 positive regulation of protein localization to nucleus GO:1900182 8.8 NGFR PARP1 PLK1

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.13 LATS1 PARP1 PLK1
2 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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