MCID: TTR011
MIFTS: 41

Tetraploidy malady

Categories: Rare diseases, Fetal diseases

Aliases & Classifications for Tetraploidy

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Sources:
46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Tetraploidy:

Name: Tetraploidy 46 52 66
 
Tetraploidy Syndrome 46

Classifications:



External Ids:

Orphanet52 ORPHA3305
ICD10 via Orphanet29 Q92.7
MESH via Orphanet38 D057891
UMLS via Orphanet67 C0333694

Summaries for Tetraploidy

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MalaCards based summary: Tetraploidy, also known as tetraploidy syndrome, is related to leukemia and myeloid leukemia, and has symptoms including microcephaly, narrow forehead and convex nasal ridge. An important gene associated with Tetraploidy is LATS1 (Large Tumor Suppressor Kinase 1), and among its related pathways are FOXM1 transcription factor network and Hippo signaling pathway. Affiliated tissues include myeloid, skin and colon, and related mouse phenotypes are reproductive system and neoplasm.

Related Diseases for Tetraploidy

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Graphical network of the top 20 diseases related to Tetraploidy:



Diseases related to tetraploidy

Symptoms for Tetraploidy

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Symptoms:

 52 (show all 17)
  • hydronephrosis
  • cleft palate
  • microcephaly
  • short philtrum
  • micrognathia
  • preauricular skin tag
  • convex nasal ridge
  • intrauterine growth retardation
  • arnold-chiari malformation
  • abnormality of chromosome segregation
  • radial club hand
  • biparietal narrowing
  • aplasia/hypoplasia of the lungs
  • aplasia/hypoplasia affecting the eye
  • renal hypoplasia/aplasia
  • aplasia/hypoplasia of the thymus
  • hypoplasia of the ear cartilage

HPO human phenotypes related to Tetraploidy:

(show all 16)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 narrow forehead hallmark (90%) HP:0000341
3 convex nasal ridge hallmark (90%) HP:0000444
4 intrauterine growth retardation hallmark (90%) HP:0001511
5 abnormality of chromosome segregation hallmark (90%) HP:0002916
6 short philtrum typical (50%) HP:0000322
7 micrognathia typical (50%) HP:0000347
8 radial club hand typical (50%) HP:0004059
9 hypoplasia of the ear cartilage typical (50%) HP:0100720
10 cleft palate occasional (7.5%) HP:0000175
11 preauricular skin tag occasional (7.5%) HP:0000384
12 arnold-chiari malformation occasional (7.5%) HP:0002308
13 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
14 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
15 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
16 aplasia/hypoplasia of the thymus occasional (7.5%) HP:0010515

Drugs & Therapeutics for Tetraploidy

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Proton pump inhibitorsPhase 31057
Synonyms:
 
PPIs
2
OmeprazolePhase 333173590-58-64594
Synonyms:
( -)-Omeprazole
(-)-Omeprazole
(S)-(-)-Omeprazole
(S)-Omeprazole
119141-89-8
131959-78-9
172964-80-6
2,3,5-Trimethylpyridine/Omeprazole
2-(((3,5-Dimethyl-4-methoxy-2-pyridyl)methyl)sulfinyl)-5-methoxy-1H-benzimidazole
2-({[3,5-dimethyl-4-(methyloxy)pyridin-2-yl]methyl}sulfinyl)-5-(methyloxy)-1H-benzimidazole
5-Methoxy-2-(((4-methoxy-3,5-dimethyl-2-pyridyl)methyl)sulfinyl)benzimidazole
5-Methoxy-2-[[(4-methoxy-3,5-dimethyl-2-pyridinyl)methyl]sulfinyl]-1H-benzimidazole
5-Methoxy-2[(4-methoxy-3,5-dimethyl-2-pyridyl)methylsulfinyl]-1H-benzimidazole
5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole
6-methoxy-2-[(4-methoxy-3,5-dimethylpyridin-2-yl)methylsulfinyl]-1H-benzimidazole
73590-58-6
AC-401
AC1L1IIJ
AGI-010
AKOS005066653
AULCER
Antra
Antra MUPS
Audazol
Aulcer
Axagon
BIDD:GT0189
BPBio1_000425
BRD-A55962179-001-04-9
BSPBio_000385
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Erbolin
Esomeprazole
Esomperazole
Esopral
Exter
Gasec
Gastrimut
Gastroloc
Gibancer
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
LS-7629
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Mepral
Miol
Miracid
MolPort-003-666-741
MolPort-003-807-515
MolPort-003-849-702
Mopral
Morecon
NCGC00016925-01
 
NCGC00016925-02
NCGC00021522-03
NCGC00021522-04
NCGC00021522-05
Nexiam
Nexium
Nexium IV
Nilsec
Nopramin
Nuclosina
O0359
O104_SIGMA
OMEP
OMP
OMZ
Ocid
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
TL8005099
Tedec Ulceral
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
3
MelatoninNutraceuticalPhase 324573-31-4896
Synonyms:
0E2B08C1-B325-45B1-8939-6F9081EFDFA4
4-ACETAMIDO-4'-ISOTHIO-CYANATOSTILBENE-2,2'-DISULFONIC ACID
5-22-12-00042 (Beilstein Handbook Reference)
5-Methoxy-N-acetyltryptamine
5-methoxy-N-acetyltryptamine
73-31-4
A4039/0172195
AB00053279
AC1L1A9Q
AC1Q4F1W
AC1Q4F1X
AKOS000276269
Acetamide, N-(2-(5-methoxy-1H-indol-3-yl)ethyl)- (9CI)
Acetamide, N-[2-(5-methoxy-1H-indol-3-yl)ethyl]- (9CI)
Acetamide, N-[2-(5-methoxyindol-3-yl)ethyl]- (6CI,8CI)
Acetamide, {N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-}
Acetamide, {N-[2-(5-methoxyindol-3-yl)ethyl]-}
BAS 01281092
BIDD:ER0618
BPBio1_000590
BRD-K97530723-001-07-6
BRN 0205542
BSPBio_000536
BSPBio_003006
Bio-0635
C01598
CAS-73-31-4
CCRIS 3472
CHEBI:16796
CHEMBL45
CID896
ChemDiv2_003916
Circadin
D008550
D08170
DB01065
DB08189
DivK1c_000353
EINECS 200-797-7
EU-0100787
HMS1380B22
HMS1569K18
HMS1921E04
HMS2089F09
HMS501B15
HSCI1_000400
HSDB 7509
I05-0076
I10-0345
IDI1_000353
IDI1_002631
IN1244
KBio1_000353
KBio2_000665
KBio2_003233
KBio2_005801
KBio3_002226
KBioGR_000591
KBioSS_000665
L001261
LS-1623
Lopac-M-5250
Lopac0_000787
M 5250
M-1200
M-1250
M1105
M5250_SIGMA
ML1
MLS000859594
MLS001055382
MLS001240204
MT6
Mela-T
Melapure
Melatol
Melatonex
Melatonex, Melatonin
Melatonin
Melatonin (synth.) standard-grade
 
Melatonin (synth.) ultra-pure
Melatonina
Melatonina (TN)
Melatonine
Melovine
MolPort-000-737-883
N-(2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)-Acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)acetamide
N-Acetyl-5-methoxy-tryptamine
N-Acetyl-5-methoxy-tryptamine Melatonine
N-Acetyl-5-methoxytryptamine
N-[2-(5-Methoxy-1H-indol-3-yl)-ethyl]-acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]acetamide
N-[2-(5-methoxyindol-3-yl)ethyl]acetamide
N-acetyl-5-methoxy-tryptamine
NCGC00015680-01
NCGC00015680-02
NCGC00015680-03
NCGC00015680-06
NCGC00015680-13
NCGC00090727-01
NCGC00090727-02
NCGC00090727-03
NCGC00090727-04
NCGC00090727-05
NCGC00090727-06
NCGC00090727-07
NCGC00090727-08
NCGC00090727-09
NCI60_004378
NINDS_000353
NMR/14327425
NSC 113928
NSC113928
NSC56423
Nature'S Harmony
Night Rest
Oprea1_104553
Oprea1_814234
PREVENTION 1 (MELATONIN) (PREVENTION 1)
PREVENTION 2 (MELATONIN)
PREVENTION 3 (MELATONIN)
PREVENTION 4 (MELATONIN)
PREVENTION 5 (MELATONIN)
Pineal Hormone
Posidorm
Prestwick0_000458
Prestwick1_000458
Prestwick2_000458
Prestwick3_000458
Prestwick_312
Regulin
Revital Melatonin
Rx Balance
S1204_Selleck
SDCCGMLS-0065812.P001
SDCCGMLS-0065812.P002
SMP2_000309
SMR000326666
SPBio_001527
SPBio_002475
SPECTRUM1500690
STK386880
Sleep Right
Spectrum2_001344
Spectrum3_001393
Spectrum4_000066
Spectrum5_001745
Spectrum_000185
TNP00300
UNII-JL5DK93RCL
Vivitas
WLN: T56 BMJ D2MV1 GO1
ZINC00057060
{N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-} Acetamide
{N-[2-(5-methoxyindol-3-yl)ethyl]-} Acetamide

Interventional clinical trials:

idNameStatusNCT IDPhase
1Melatonin Associated to Acid Inhibition for Chemoprevention in Barret Esophagus: a Pilot StudyRecruitingNCT01566474Phase 3

Search NIH Clinical Center for Tetraploidy

Genetic Tests for Tetraploidy

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Anatomical Context for Tetraploidy

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MalaCards organs/tissues related to Tetraploidy:

34
Myeloid, Skin, Colon, Thymus, Lung, Eye, Ovary

Animal Models for Tetraploidy or affiliated genes

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MGI Mouse Phenotypes related to Tetraploidy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.7AURKB, BRCA2, LATS1, TP73
2MP:00020068.7AURKB, BRCA2, LATS1, TP73
3MP:00107718.6AURKB, BRCA2, LATS1, NGFR
4MP:00053858.1AURKB, LATS1, NGFR, TP73
5MP:00053847.9AURKB, BRCA2, LATS1, NGFR, TP73
6MP:00107687.6AURKB, BRCA2, LATS1, NGFR, TP73
7MP:00053767.5AURKB, BRCA2, LATS1, NGFR, TP73
8MP:00053787.2AURKB, BRCA2, LATS1, NGFR, TP73

Publications for Tetraploidy

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Articles related to Tetraploidy:

(show top 50)    (show all 195)
idTitleAuthorsYear
1
Effects of tetraploidy induction on rainbow trout (Oncorhynchus mykiss, Walbaum, 1792) proteome at early stages of development. (27561891)
2016
2
Tetraploidy Enhances Boron-Excess Tolerance in Carrizo Citrange (Citrus sinensis L. Osb. A9 Poncirus trifoliata L. Raf.). (27252717)
2016
3
Tetraploidy and CIN: a dangerous combination. (26517196)
2015
4
Stimulation of Cell Elongation by Tetraploidy in Hypocotyls of Dark-Grown Arabidopsis Seedlings. (26244498)
2015
5
Constitutive Cdk2 activity promotes aneuploidy while altering the spindle assembly and tetraploidy checkpoints. (23321641)
2013
6
Tetraploidy with double t(15;17)(q22;q21) in acute promyelocytic leukaemia. (23250036)
2013
7
Reed-Sternberg-like cells of ALK-positive anaplastic large cell lymphoma with near-tetraploidy. (22250643)
2012
8
AML associated with extensive erythrophagocytosis and tetraploidy. (21790789)
2011
9
Near-tetraploidy clone can evolve from a hyperdiploidy clone and cause resistance to lenalidomide and bortezomib in a multiple myeloma patient. (20138360)
2010
10
Persistent telomere damage induces bypass of mitosis and tetraploidy. (20371347)
2010
11
Clonal evolution with double Ph followed by tetraploidy in imatinib-treated chronic myeloid leukemia with e19a2 transcript in transformation. (20417871)
2010
12
DNA lesions induced by replication stress trigger mitotic aberration and tetraploidy development. (20098673)
2010
13
Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses. (20676750)
2010
14
Deregulated Aurora-B induced tetraploidy promotes tumorigenesis. (19332642)
2009
15
The expression of the DeltaNp73beta isoform of p73 leads to tetraploidy. (19008096)
2009
16
Tetraploidy triggers mitochondria. (19377300)
2009
17
Degenerate tetraploidy was established before bdelloid rotifer families diverged. (18996928)
2009
18
Evidence for degenerate tetraploidy in bdelloid rotifers. (18362354)
2008
19
Could rhG-CSF induction of tetraploidy contribute to leukemogenesis in healthy donors? (17590182)
2007
20
Tetraploidy and chromosomal instability are early events during cervical carcinogenesis. (16123119)
2006
21
Occurrence of tetraploidy in Nicotiana attenuata plants after Agrobacterium-mediated transformation is genotype specific but independent of polysomaty of explant tissue. (16518637)
2006
22
Myeloid/natural killer cell precursor acute leukemia with tetraploidy. (16337859)
2005
23
Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies). (11903358)
2002
24
Philadelphia chromosome-positive acute myeloid leukemia with tetraploidy. (11843293)
2002
25
Ancient tetraploidy and slow molecular evolution in Scaphiophryne: ecological correlates of speciation mode in Malagasy relict amphibians. (11993933)
2002
26
Inverse regulation of cyclin B1 by c-Myc and p53 and induction of tetraploidy by cyclin B1 overexpression. (11522645)
2001
27
The impact of ancestral tetraploidy on antibody heterogeneity in salmonid fishes. (9914910)
1998
28
Transition to tetraploidy in 1,25-dihydroxyvitamin D3-resistant HL60 cells is preceded by reduced growth factor dependence and constitutive up-regulation of Sp1 and AP-1 transcription factors. (8968109)
1996
29
Prenatal diagnosis of tetraploidy: a case report. (8434628)
1993
30
Electrofusion of mouse embryos results in uniform tetraploidy and not tetraploid/diploid mosaicism. (1286803)
1992
31
New insights into triploidy and tetraploidy, from an analysis of model systems for these conditions. (1874961)
1991
32
Correlation between in vitro tetraploidy in skin fibroblasts and development of sporadic colorectal carcinomas. (2253181)
1990
33
Tetraploidy in a liveborn infant. (2074564)
1990
34
DNA synthesis experimentally induced in neurons: tetraploidy or hyperdiploidy? (2281821)
1990
35
Human skin fibroblast in vitro tetraploidy. Flow cytometric DNA assay used to confirm metaphase assay in patients with various colonic diseases. (2752376)
1989
36
Tetraploidy in a 15-month-old girl. (3287924)
1988
37
Tetraploidy (92,XXYY) in an acute nonlymphocytic leukemia (M1) patient following autologous bone marrow transplantation. (3060252)
1988
38
Tetraploidy in cultured dermal fibroblasts from patients with heritable colon cancer. (3168398)
1988
39
Effect of tetraploidy on dendritic branching in neurons and glial cells of the frog, Xenopus laevis. (3584543)
1987
40
Genetic improvement of Egyptian henbane, Hyoscyamus muticus L. through induced tetraploidy. (24240864)
1986
41
Increased frequency of tetraploidy in cultured skin fibroblasts from extremities with reduction malformations. (7107302)
1982
42
Tetraploidy in a liveborn infant with spina bifida and other anomalies. (7024547)
1981
43
In vitro tetraploidy in familial polyposis coli. (6105360)
1980
44
Tetraploidy and the striate cortex. (876692)
1977
45
The Gardner syndrome: increased tetraploidy in cultured skin fibroblast. (1271427)
1976
46
Increased tetraploidy: cell-specific for the Gardner gene in the cultured cell. (991112)
1976
47
A proposed system whereby a (colcemid-induced) S2 phase is responsible for the tetraploidy found in cultured human amniotic fluid cells. (984092)
1976
48
Mosaic tetraploidy in a two-year-old female. (4426137)
1974
49
Spontaneous occurrence of tetraploidy and near-haploidy in mammalian peripheral blood. (6054022)
1967
50
Cytological evidence of constant tetraploidy in the bisexual South American frog Odontophrynus americanus. (5959682)
1966

Variations for Tetraploidy

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Expression for genes affiliated with Tetraploidy

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Search GEO for disease gene expression data for Tetraploidy.

Pathways for genes affiliated with Tetraploidy

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Pathways related to Tetraploidy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4AURKB, BRCA2
29.4LATS1, TP73
39.0NGFR, TP73
48.9AURKB, LATS1, TP73

GO Terms for genes affiliated with Tetraploidy

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.8BRCA2, TP73
2response to X-rayGO:00101659.8BRCA2, TP73
3intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.7BRCA2, TP73
4cellular response to UVGO:00346449.7AURKB, TP73
5response to gamma radiationGO:00103329.6BRCA2, TP73
6intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:00427719.6BRCA2, TP73
7regulation of signal transduction by p53 class mediatorGO:19017969.5AURKB, TP73
8negative regulation of neuron apoptotic processGO:00435249.0NGFR, TP73
9positive regulation of apoptotic processGO:00430658.3LATS1, NGFR, TP73

Sources for Tetraploidy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet