MCID: TTR011
MIFTS: 54

Tetraploidy malady

Fetal category

Summaries for Tetraploidy

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 Polyploid cells and organisms are those containing more than two paired (homologous) sets of... more...

MalaCards: Tetraploidy, also known as tetraploidy syndrome, is related to acute leukemia and colorectal cancer, and has symptoms including microcephaly, cleft palate without cleft lip/submucosal cleft palate/bifid uvula and micrognathia/retrognathia/micrognathism/retrognathism. An important gene associated with Tetraploidy is GFI1 (growth factor independent 1 transcription repressor), and among its related pathways are superoxide radicals degradation and Apoptosis Modulation and Signaling. The compounds resveratrol and pdtc have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and brain, and related mouse phenotypes are hearing/vestibular/ear and embryogenesis.

Aliases & Classifications for Tetraploidy

Sources:
43NIH Rare Diseases, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal


Aliases & Descriptions:

tetraploidy 43 49 61
tetraploidy syndrome 43


External Ids:

MESH via Orphanet36 D057891
ICD10 via Orphanet26 Q92.7
SNOMED-CT via Orphanet58 62749002
UMLS via Orphanet62 C0333694

Related Diseases for Tetraploidy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 125)
idRelated DiseaseScoreTop Affiliating Genes
1acute leukemia30.9FLT3, CCNB1
2colorectal cancer30.2TP53, TP73, PARP1, MYC, CCNB1
3precursor t-cell acute lymphoblastic leukemia29.8TP73, PARP1, MYC, FLT3
4adenoma29.8CCNB1, MYC, PARP1, TP73, TP53
5acute myeloid leukemia10.5
6triploidy10.3
7acute t cell leukemia10.2
8t-cell leukemia10.2
9brain disease10.1
10acute lymphoblastic leukemia, childhood10.1
11clear cell sarcoma10.0LATS1
12myelodysplastic syndromes10.0FLT3
13malignant mesothelioma10.0SOD2
14hepatitis b10.0SOD2
15osteoarthritis10.0PTN
16arthritis10.0SOD2
17hepatitis c10.0SOD2
18psoriasis10.0TCF19
19cerebral primitive neuroectodermal tumor10.0MYC
20cervical squamous cell carcinoma10.0TP73
21diabetic neuropathy10.0PARP1
22pneumoconiosis10.0CAT
23meningioma10.0TP73, PTN
24hepatoblastoma10.0CAT
25pheochromocytoma10.0NGFR
26infertility10.0CAT
27choriocarcinoma10.0PTN
28cervical adenocarcinoma10.0PARP1
29deficiency anemia10.0SOD2, FLT3
30neuropathy10.0SOD2
31spermatic cord torsion10.0CAT
32meningitis10.0CAT
33down syndrome10.0FLT3, SOD2
34peutz-jeghers syndrome10.0BRCA2
35pituitary adenoma10.0TP73
36werner syndrome10.0PARP1
37multiple sclerosis10.0NGFR, FLT3
38breast-ovarian cancer, familial, 210.0BRCA2
39multiple myeloma10.0TP53
40esophageal cancer10.0TP53
41esophagitis10.0SOD2, CAT
42oral cavity cancer10.0TP53
43ependymoma10.0TP73, NGFR
44brain cancer10.0TP53
45myeloma10.0PARP1, MYC
46glomerulonephritis10.0CAT
47pancreatitis10.0SOD2, BRCA2
48herpes simplex10.0NGFR, SOD2
49precursor b-cell acute lymphoblastic leukemia10.0TP73, MYC, FLT3
50fanconi's anemia10.0PARP1, BRCA2

Graphical network of the top 20 diseases related to Tetraploidy:



Diseases related to tetraploidy

Clinical Features for Tetraploidy

Sources:
49Orphanet
See all sources


Symptoms:

49 (show all 18)
  • microcephaly
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • narrow forehead
  • stillbirth/neonatal death
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • intrauterine growth retardation
  • short philtrum
  • ear cartilage deficiency
  • agenesis/hypoplasia/aplasia of kidneys
  • preauricular/branchial tags/appendages
  • thymic aplasia/hypoplasia
  • total/partial trisomy/duplication
  • arnold-chiari anomaly
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • beaked nose
  • radial club hand

Drugs & Therapeutics for Tetraploidy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Tetraploidy

Drug clinical trials:

Search ClinicalTrials for Tetraploidy

Search NIH Clinical Center for Tetraploidy

Search CenterWatch for Tetraploidy

Genetic Tests for Tetraploidy

Anatomical Context for Tetraploidy

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Tetraploidy:

33
Skin, Ovary, Brain, Bone marrow, Cortex, Cerebellum, Smooth muscle, Colon, Pancreas, Breast, Placenta, Myeloid, T cells, B lymphoblasts, B cells, Fetal brain

Animal Models for Tetraploidy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Tetraploidy

Sources:
51PubMed
See all sources

Articles related to Tetraploidy:

(show top 50)    (show all 180)
idTitleAuthorsYear
1
Reed-Sternberg-like cells of ALK-positive anaplastic large cell lymphoma with near-tetraploidy. (22250643)
2012
2
Tetraploidy in BRCA2 breast tumours. (22133571)
2012
3
Near-tetraploidy clone can evolve from a hyperdiploidy clone and cause resistance to lenalidomide and bortezomib in a multiple myeloma patient. (20138360)
2010
4
Persistent telomere damage induces bypass of mitosis and tetraploidy. (20371347)
2010
5
Clonal evolution with double Ph followed by tetraploidy in imatinib-treated chronic myeloid leukemia with e19a2 transcript in transformation. (20417871)
2010
6
The expression of the DeltaNp73beta isoform of p73 leads to tetraploidy. (19008096)
2009
7
The consequences of tetraploidy and aneuploidy. (19020304)
2008
8
Tetraploidy and 5q deletion in myelodysplastic syndrome: a case report. (18474300)
2008
9
Tetraploidy, aneuploidy and cancer. (17324569)
2007
10
Chromosome 13q deletion and IgH abnormalities may be both masked by near-tetraploidy in a high proportion of multiple myeloma patients: a combined morphology and I-FISH analysis. (17590504)
2007
11
Tetraploidy/aneuploidy and stem cells in cancer promotion: The role of chromosome passenger proteins. (16331679)
2006
12
Near-tetraploidy in childhood B-cell precursor acute lymphoblastic leukemia is a highly specific feature of ETV6/RUNX1-positive leukemic cases. (16552772)
2006
13
Overexpression of the anaphase promoting complex/cyclosome inhibitor Emi1 leads to tetraploidy and genomic instability of p53-deficient cells. (16861914)
2006
14
Following tetraploidy in an Arabidopsis ancestor, genes were removed preferentially from one homeolog leaving clusters enriched in dose-sensitive genes. (16760422)
2006
15
Near-triploidy and near-tetraploidy in hematological malignancies and mutation of the p53 gene. (14738434)
2004
16
Tumor suppressor WARTS ensures genomic integrity by regulating both mitotic progression and G1 tetraploidy checkpoint function. (15122335)
2004
17
Secondary near-tetraploidy with double der(15)t(15;17) in acute promyelocytic leukemia in relapse. (15036889)
2004
18
G2 and spindle assembly checkpoint adaptation, and tetraploidy arrest: implications for intrinsic and chemically induced genomic instability. (14643440)
2003
19
G1 tetraploidy checkpoint and the suppression of tumorigenesis. (12577301)
2003
20
Ancient tetraploidy and slow molecular evolution in Scaphiophryne: ecological correlates of speciation mode in Malagasy relict amphibians. (11993933)
2002
21
Inhibition of poly(ADP-ribose) polymerase activity is insufficient to induce tetraploidy. (11160908)
2001
22
Inverse regulation of cyclin B1 by c-Myc and p53 and induction of tetraploidy by cyclin B1 overexpression. (11522645)
2001
23
High frequency of tetraploidy detected in malignant melanoma of Japanese patients by fluorescence in situ hybridization. (10995881)
2000
24
Tetraploidy in a growth-retarded fetus with a thick placenta. (9742582)
1998
25
Flow cytometric DNA analysis of neuroblastoma--clinical significance of DNA tetraploidy. (7972240)
1994
26
DNA flow cytometric analysis of neuroblastoma: distinction of tetraploidy subset. (8014812)
1994
27
Prenatal diagnosis of tetraploidy: a case report. (8434628)
1993
28
Electrofusion of mouse embryos results in uniform tetraploidy and not tetraploid/diploid mosaicism. (1286803)
1992
29
Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly. (1756611)
1991
30
Association between tumor DNA aneuploidy and in vitro tetraploidy of skin fibroblasts in patients with colorectal neoplasms. (2814341)
1989
31
Tetraploidy in cultured dermal fibroblasts from patients with heritable colon cancer. (3168398)
1988
32
A liveborn infant with tetraploidy. (3068989)
1988
33
Tetraploidy and Y chromosome loss in acute mixed-lineage leukemia. (3164244)
1988
34
Tetraploidy with hydrops fetalis, cystic nuchal hygroma and 90, XX karyotype. (3568442)
1987
35
In vitro tetraploidy in patients with ulcerative colitis. (3629185)
1987
36
In vitro tetraploidy in patients with non-hereditary colorectal adenoma and carcinoma. Support for a genetic influence on the pathogenesis of colorectal carcinoma. (3563403)
1987
37
A standardized assay to identify colon cancer genotypes by in vitro tetraploidy in human dermal fibroblasts. (2838216)
1986
38
Chromosomes and causation of human cancer and leukemia. LIV. Near-tetraploidy in acute leukemia. (3855276)
1985
39
Detection of in vitro tetraploidy in heritable colon cancer syndromes. Confirmation by three different assays. (6467159)
1984
40
Tetraploidy: a report of three live-born infants. (6496571)
1984
41
Increased frequency of tetraploidy in cultured skin fibroblasts from extremities with reduction malformations. (7107302)
1982
42
Occurrence of in vitro tetraploidy in the heritable colon cancer syndromes. (7284960)
1981
43
In vitro tetraploidy in familial polyposis coli. (6105360)
1980
44
Genetic algebras for tetraploidy with several loci. (7452100)
1980
45
Origin of triploidy and tetraploidy in man: 11 cases with chromosomes markers. (558867)
1977
46
Evidence for ancient tetraploidy and conservation of linkage groups in mammalian chromosomes. (4561854)
1972
47
Hypoxia as a chromosomal mutagen. Triploidy and tetraploidy in the hamster embryo. (5021115)
1972
48
Tetraploidy in amniotic-fluid cells. (4097615)
1970
49
Experimental tetraploidy in newts. (13575652)
1958
50
TETRAPLOIDY IN ANTIRRHINUM MAJUS INDUCED BY SANGUINARINE HYDROCHLORIDE. (17791279)
1942

Genetic Variations for Tetraploidy

Expression for genes affiliated with Tetraploidy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Tetraploidy

Search GEO for disease gene expression data for Tetraploidy.

Pathways for genes affiliated with Tetraploidy

Sources:
38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 52QIAGEN, 54Reactome, 4Cell Signaling Technology
See all sources

Pathways related to Tetraploidy according to GeneCards/GeneDecks:

(show all 32)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CAT, SOD2
2
Hide members
9.9TP53, TP73
3
Hide members
9.7TP53, MYC, FLT3
49.7MYC, TP73, TP53
59.6TP53, CCNB1
6
Hide members
9.6TP53, MYC, BRCA2
79.6MYC, NGFR, TP53
8
Hide members
9.6MYC, NGFR, TP53
99.4CCNB1, TP73, TP53
109.4BRCA2, FLT3, MYC, TP53
119.4TP53, MYC, CCNB1
129.3FLT3, MYC, NGFR, TP53
13
Hide members
9.3TP53, TP73, NGFR, MYC
14
Hide members
9.2CAT, SOD2, MYC, TP73, TP53
15
Hide members
9.1TP53, TP73, MYC, CCNB1
16
Hide members
9.1NGFR, TCF19, PTN
179.1PLK1, CCNB1
18
Hide members
9.1SOD2, FLT3, MYC, NGFR, TP53
19
Hide members
9.1TP53, PLK1, MYC
209.0BRCA2, PLK1, TP53
218.8TP53, PLK1, MYC, BRCA2
228.8TP53, PLK1, MYC, BRCA2
238.7PLK1, FBXO5, CCNB1
24
Hide members
8.7PLK1, FBXO5, CCNB1
258.7PLK1, FBXO5, CCNB1
268.6PLK1, SOD2, CAT, CCNB1
278.6CCNB1, BRCA2, MYC, PLK1
28
Hide members
8.6CCNB1, MYC, PLK1, TP53
29
Cell cycle Cell cycle (generic schema)
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8.5PLK1, MYC, FBXO5, CCNB1
30
Hide members
8.4BRCA2, FLT3, MYC, NGFR, PTN, TP53
31
Hide members
8.3FLT3, MYC, NGFR, TCF19, PTN, TP53
32
Hide members
8.1TP73, LATS1, PLK1, BRCA2, CCNB1

Compounds for genes affiliated with Tetraploidy

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Tetraploidy according to GeneCards/GeneDecks:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1resveratrol45 60 11 2413.4BRCA2
2pdtc4510.3SOD2, CAT
3antimycin a4510.0PARP1, SOD2, CAT
4trolox4510.0PARP1, SOD2, CAT
52,7-dichlorofluorescin diacetate4510.0SOD2, CAT
68-oxo-dg459.9SOD2, CAT, TP53
7selenite459.8SOD2, CAT, PARP1
8o6-methylguanine459.8TP73, BRCA2, TP53
9bcnu459.8PARP1, SOD2, TP53
10dicoumarol459.8CAT, SOD2, PARP1, TP53
114-hydroxynonenal45 2410.8SOD2, MYC, CAT, PARP1
12peroxynitrite459.7CAT, SOD2, NGFR, PARP1
13gemcitabine45 50 1111.7PARP1, TP73, TP53, MYC
14cd 437459.7PARP1, MYC, TP53
15etoposide45 50 60 1112.6FLT3, CCNB1, BRCA2, SOD2
16allopurinol45 50 1111.6TCF19, SOD2, CAT
17nu102545 1110.6PARP1, BRCA2
18arsenite45 2410.6TP53, PARP1, CCNB1, FLT3
19sodium arsenite459.5CAT, MYC, TP53, CCNB1
20curcumin459.5TP53, CAT, SOD2, MYC, PARP1
21roscovitine459.5MYC, CCNB1, PARP1, TP53
22melphalan45 1110.5CCNB1, PARP1, MYC, TP53
23n acetylcysteine459.4TP53, PARP1, MYC, SOD2, CAT
24adpribose459.4BRCA2, CCNB1, TP53, PARP1
25hydroxyurea45 50 1111.4TP53, BRCA2, CCNB1, MYC
26lactacystin459.4TP53, PARP1, MYC, CCNB1
27actinomycin d459.3TP73, PARP1, MYC, CAT, SOD2, TP53
28vincristine45 50 1111.3TP73, MYC, TP53, BRCA2, CCNB1
29docetaxel45 50 60 1112.2CCNB1, TP53, PARP1, BRCA2, MYC
30h2o2459.2CAT, PTN, PARP1, CCNB1
31p003459.1TP73, PLK1, FLT3, BRCA2
32agar459.1NGFR, SOD2, MYC, CAT, PTN
33cycloheximide459.1BRCA2, CAT, MYC, PARP1, TP53, SOD2
34imatinib45 50 1111.1MYC, FLT3, PLK1, PARP1, TP73
35camptothecin45 60 1111.0TP53, TP73, PARP1, MYC, BRCA2, CCNB1
36mg 13245 6010.0CCNB1, MYC, PARP1, TP53
37paclitaxel45 50 1110.9BRCA2, MYC, PLK1, PARP1, TP53
38ly294002458.9PTN, PARP1, SOD2, MYC, TP53
39adriamycin458.9MYC, PLK1, SOD2, CCNB1, TP73
40cisplatin45 50 60 1111.7TP73, BRCA2, CCNB1, SOD2, MYC, PARP1
41paraffin458.7BRCA2, CCNB1, MYC, NGFR, TP73, TP53
42zinc45 249.5SOD2, BRCA2, CCNB1, TP73, ZYX, NGFR
43threonine457.9CCNB1, PLK1, LATS1, NGFR, TP73, FLT3
44oligonucleotide457.9FLT3, NGFR, MYC, GFI1, PTN, BRCA2
45vegf457.9CCNB1, SOD2, FLT3, MYC, TP53, TP73
46retinoic acid45 248.8CCNB1, PTN, PARP1, FLT3, NGFR, TP73
47phosphatidylinositol457.8BRCA2, PTN, CCNB1, PLK1, NGFR, FLT3
48doxorubicin45 50 119.8CAT, MYC, CCNB1, SOD2, FLT3, PLK1
49thymidine45 248.5MYC, PLK1, NGFR, TP53, FLT3, PTN
50tyrosine457.1FLT3, MYC, ZYX, NGFR, SOD2, PTN

GO Terms for genes affiliated with Tetraploidy

Sources:
16Gene Ontology
See all sources

Cellular components related to Tetraploidy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1condensed nuclear chromosome outer kinetochoreGO:0009429.1PLK1, CCNB1
2spindle poleGO:0009228.8PLK1, LATS1
3nucleoplasmGO:0056547.3TP53, CCNB1, BRCA2, FBXO5, MYC, NGFR
4cytosolGO:0058297.0CAT, FBXO5, NGFR, PLK1, LATS1, TP73
5nucleusGO:0056346.2FBXO5, ZYX, BRCA2, CCNB1, MYC, PLK1

Biological processes related to Tetraploidy according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1release of cytochrome c from mitochondriaGO:00183610.0SOD2, TP73, TP53
2negative regulation of fibroblast proliferationGO:04814710.0SOD2, MYC, TP53
3DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00697810.0TP53, TP73, BRCA2
4hemopoiesisGO:03009710.0FLT3, SOD2, BRCA2
5response to X-rayGO:0101659.9TP53, TP73, BRCA2
6mitotic G1 DNA damage checkpointGO:0315719.9TP73, TP53
7cellular response to UVGO:0346449.9MYC, TP73, TP53
8protein tetramerizationGO:0512629.9TP53, TP73, CAT
9intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:0427719.9BRCA2, TP73, TP53
10response to hyperoxiaGO:0550939.9SOD2, CAT
11double-strand break repairGO:0063029.8TP53, PARP1, BRCA2
12transforming growth factor beta receptor signaling pathwayGO:0071799.6TP53, PARP1, MYC
13oocyte maturationGO:0015569.6CCNB1, BRCA2, FBXO5
14response to gamma radiationGO:0103329.5TP53, TP73, MYC, SOD2, BRCA2
15metaphase/anaphase transition of mitotic cell cycleGO:0070919.4PLK1, FBXO5
16positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514378.9CCNB1, FBXO5, PLK1
17regulation of ubiquitin-protein ligase activity involved in mitotic cell cycleGO:0514398.8PLK1, FBXO5, CCNB1
18anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic processGO:0311458.8PLK1, FBXO5, CCNB1
19negative regulation of apoptotic processGO:0430668.7CAT, MYC, NGFR, PLK1, TP53
20negative regulation of transcription from RNA polymerase II promoterGO:0001228.7MYC, PLK1, GFI1, PARP1, TP73, TP53
21G2/M transition of mitotic cell cycleGO:0000868.3LATS1, PLK1, CCNB1

Molecular functions related to Tetraploidy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:0081349.4TP53, TP73, PARP1, MYC
2protein kinase bindingGO:0199017.5TP53, TP73, LATS1, PLK1, FBXO5, CCNB1
3protein bindingGO:0055155.3FLT3, FBXO5, ZYX, BRCA2, CCNB1, MYC

Products for genes affiliated with Tetraploidy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tetraploidy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet