MCID: TTR011
MIFTS: 46

Tetraploidy malady

Fetal diseases category

Summaries for Tetraploidy

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 leukemia, and has symptoms including preauricular/branchial tags/appendages, thymic aplasia/hypoplasia and total/partial trisomy/duplication. 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 lung and kidney, and related mouse phenotypes are hearing/vestibular/ear and embryogenesis.

Aliases & Classifications for Tetraploidy

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Sources:
42NIH Rare Diseases, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

tetraploidy 42 48 60
tetraploidy syndrome 42


External Ids:

MESH via Orphanet35 D057891
ICD10 via Orphanet26 Q92.7
SNOMED-CT via Orphanet57 62749002
UMLS via Orphanet61 C0333694

Related Diseases for Tetraploidy

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17GeneCards, 18GeneDecks
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Diseases related to Tetraploidy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1acute leukemia30.9FLT3, CCNB1
2leukemia30.8CCNB1, BRCA2, CAT, ZYX, FLT3, MYC
3myeloid leukemia30.6FLT3, MYC, PARP1, TP73
4colon cancer30.3MYC, PLK1, PARP1, TP73, TP53
5myeloma30.2PARP1, MYC
6neuroblastoma30.2TP53, NGFR, MYC
7colorectal cancer30.1TP53, TP73, PARP1, MYC, CCNB1
8multiple myeloma30.0TP53
9alzheimer's disease30.0PTN, PLK1, NGFR, SOD2, CAT, CCNB1
10meningioma29.8TP73, PTN
11sarcoma29.8BRCA2, SOD2, TCF19, TP53
12adenoma29.8CCNB1, MYC, PARP1, TP73, TP53
13melanoma29.7CCNB1, BRCA2, CAT, SOD2, FLT3, MYC
14acute myeloid leukemia10.4
15neuronitis10.3
16brain disease10.1
17childhood leukemia10.1
18lymphoblastic leukemia10.1
19clear cell sarcoma10.0LATS1
20myelodysplastic syndromes10.0FLT3
21malignant mesothelioma10.0SOD2
22hepatitis b10.0SOD2
23osteoarthritis10.0PTN
24arthritis10.0SOD2
25hepatitis c10.0SOD2
26psoriasis10.0TCF19
27cerebral primitive neuroectodermal tumor10.0MYC
28cervical squamous cell carcinoma10.0TP73
29diabetic neuropathy10.0PARP1
30pneumoconiosis10.0CAT
31hepatoblastoma10.0CAT
32pheochromocytoma10.0NGFR
33infertility10.0CAT
34choriocarcinoma10.0PTN
35cervical adenocarcinoma10.0PARP1
36deficiency anemia10.0SOD2, FLT3
37neuropathy10.0SOD2
38spermatic cord torsion10.0CAT
39meningitis10.0CAT
40down syndrome10.0FLT3, SOD2
41peutz-jeghers syndrome10.0BRCA2
42pituitary adenoma10.0TP73
43werner syndrome10.0PARP1
44breast-ovarian cancer, familial, 210.0BRCA2
45multiple sclerosis10.0NGFR, FLT3
46esophageal cancer10.0TP53
47esophagitis10.0SOD2, CAT
48oral cavity cancer10.0TP53
49ependymoma10.0TP73, NGFR
50brain cancer10.0TP53

Graphical network of the top 20 diseases related to Tetraploidy:



Diseases related to tetraploidy

Clinical Features for Tetraploidy

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48Orphanet
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Symptoms:

48 (show all 18)
  • preauricular/branchial tags/appendages
  • thymic aplasia/hypoplasia
  • total/partial trisomy/duplication
  • arnold-chiari anomaly
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • beaked nose
  • radial club hand
  • agenesis/hypoplasia/aplasia of kidneys
  • ear cartilage deficiency
  • 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
  • microcephaly

Drugs & Therapeutics for Tetraploidy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Tetraploidy

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32MalaCards
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MalaCards organs/tissues related to Tetraploidy:

32
Lung, Kidney

Animal Models for Tetraploidy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Tetraploidy:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.9NGFR, TP73, GFI1
2MP:00053809.8FBXO5
3MP:00020068.9FLT3, LATS1, TP73, PLK1
4MP:00053768.7LATS1, BRCA2, FLT3, NGFR, PTN
5MP:00107718.5TP53, LATS1, PARP1, MYC, SOD2, BRCA2
6MP:00036318.4TP73, MYC, LATS1, PARP1, PTN, NGFR
7MP:00053867.9BRCA2, PTN, SOD2, MYC, NGFR, GFI1
8MP:00053977.8SOD2, TP53, PTN, GFI1, MYC, FLT3
9MP:00053897.7TP53, TP73, PTN, PARP1, MYC, SOD2
10MP:00053877.6GFI1, BRCA2, SOD2, FLT3, MYC, NGFR
11MP:00053787.6GFI1, PARP1, NGFR, LATS1, TP73, MYC
12MP:00107685.8CCNB1, TP53, LATS1, BRCA2, CAT, PARP1
13MP:00053845.8TP53, SOD2, TP73, PTN, PARP1, GFI1

Publications for Tetraploidy

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Genetic Variations for Tetraploidy

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Expression for genes affiliated with Tetraploidy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 51QIAGEN, 53Reactome, 4Cell Signaling Technology
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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
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9.3TP53, TP73, NGFR, MYC
14
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9.2CAT, SOD2, MYC, TP73, TP53
15
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9.1TP53, TP73, MYC, CCNB1
16
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9.1NGFR, TCF19, PTN
179.1PLK1, CCNB1
18
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9.1SOD2, FLT3, MYC, NGFR, TP53
19
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9.1TP53, PLK1, MYC
209.0BRCA2, PLK1, TP53
218.8TP53, PLK1, MYC, BRCA2
228.8TP53, PLK1, MYC, BRCA2
238.7PLK1, FBXO5, CCNB1
24
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8.7PLK1, FBXO5, CCNB1
258.7PLK1, FBXO5, CCNB1
268.6PLK1, SOD2, CAT, CCNB1
278.6CCNB1, BRCA2, MYC, PLK1
28
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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

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Sources:
44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Tetraploidy according to GeneCards/GeneDecks:

(show top 50)    (show all 97)
idCompoundScoreTop Affiliating Genes
1resveratrol44 59 11 2413.4BRCA2
2pdtc4410.3SOD2, CAT
3antimycin a4410.0PARP1, SOD2, CAT
4trolox4410.0PARP1, SOD2, CAT
52,7-dichlorofluorescin diacetate4410.0SOD2, CAT
68-oxo-dg449.9SOD2, CAT, TP53
7selenite449.8SOD2, CAT, PARP1
8o6-methylguanine449.8TP73, BRCA2, TP53
9bcnu449.8PARP1, SOD2, TP53
10dicoumarol449.8CAT, SOD2, PARP1, TP53
114-hydroxynonenal44 2410.8SOD2, MYC, CAT, PARP1
12peroxynitrite449.7CAT, SOD2, NGFR, PARP1
13gemcitabine44 49 1111.7PARP1, TP73, TP53, MYC
14cd 437449.7PARP1, MYC, TP53
15etoposide44 49 59 1112.6FLT3, CCNB1, BRCA2, SOD2
16allopurinol44 49 1111.6TCF19, SOD2, CAT
17nu102544 1110.6PARP1, BRCA2
18arsenite44 2410.6TP53, PARP1, CCNB1, FLT3
19sodium arsenite449.5CAT, MYC, TP53, CCNB1
20curcumin449.5TP53, CAT, SOD2, MYC, PARP1
21roscovitine449.5MYC, CCNB1, PARP1, TP53
22melphalan44 1110.5CCNB1, PARP1, MYC, TP53
23n acetylcysteine449.4TP53, PARP1, MYC, SOD2, CAT
24adpribose449.4BRCA2, CCNB1, TP53, PARP1
25hydroxyurea44 49 1111.4TP53, BRCA2, CCNB1, MYC
26lactacystin449.4TP53, PARP1, MYC, CCNB1
27actinomycin d449.3TP73, PARP1, MYC, CAT, SOD2, TP53
28vincristine44 49 1111.3TP73, MYC, TP53, BRCA2, CCNB1
29docetaxel44 49 59 1112.2CCNB1, TP53, PARP1, BRCA2, MYC
30h2o2449.2CAT, PTN, PARP1, CCNB1
31p003449.1TP73, PLK1, FLT3, BRCA2
32agar449.1NGFR, SOD2, MYC, CAT, PTN
33cycloheximide449.1BRCA2, CAT, MYC, PARP1, TP53, SOD2
34imatinib44 49 1111.1MYC, FLT3, PLK1, PARP1, TP73
35camptothecin44 59 1111.0TP53, TP73, PARP1, MYC, BRCA2, CCNB1
36mg 13244 5910.0CCNB1, MYC, PARP1, TP53
37paclitaxel44 49 1110.9BRCA2, MYC, PLK1, PARP1, TP53
38ly294002448.9PTN, PARP1, SOD2, MYC, TP53
39adriamycin448.9MYC, PLK1, SOD2, CCNB1, TP73
40cisplatin44 49 59 1111.7TP73, BRCA2, CCNB1, SOD2, MYC, PARP1
41paraffin448.7BRCA2, CCNB1, MYC, NGFR, TP73, TP53
42zinc44 249.5SOD2, BRCA2, CCNB1, TP73, ZYX, NGFR
43threonine447.9CCNB1, PLK1, LATS1, NGFR, TP73, FLT3
44oligonucleotide447.9FLT3, NGFR, MYC, GFI1, PTN, BRCA2
45vegf447.9CCNB1, SOD2, FLT3, MYC, TP53, TP73
46retinoic acid44 248.8CCNB1, PTN, PARP1, FLT3, NGFR, TP73
47phosphatidylinositol447.8BRCA2, PTN, CCNB1, PLK1, NGFR, FLT3
48doxorubicin44 49 119.8CAT, MYC, CCNB1, SOD2, FLT3, PLK1
49thymidine44 248.5MYC, PLK1, NGFR, TP53, FLT3, PTN
50tyrosine447.1FLT3, MYC, ZYX, NGFR, SOD2, PTN

GO Terms for genes affiliated with Tetraploidy

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16Gene Ontology
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Cellular components related to Tetraploidy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1condensed nuclear chromosome outer kinetochoreGO:0009429.1PLK1, CCNB1
2spindle poleGO:0009228.8LATS1, PLK1
3nucleoplasmGO:0056547.3TP53, MYC, NGFR, PLK1, PARP1, BRCA2
4cytosolGO:0058297.0CAT, FBXO5, NGFR, PLK1, LATS1, TP73
5nucleusGO:0056346.2TCF19, TP53, TP73, CCNB1, BRCA2, ZYX

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Tetraploidy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet