MCID: TTR011
MIFTS: 37

Tetraploidy malady

Rare diseases, Fetal diseases categories

Aliases & Classifications for Tetraploidy

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Tetraploidy:

Name: Tetraploidy 45 51 65
 
Tetraploidy Syndrome 45


Classifications:



External Ids:

Orphanet51 3305
ICD10 via Orphanet28 Q92.7
MESH via Orphanet37 D057891
UMLS via Orphanet66 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 Hippo signaling pathway and Direct p53 effectors. Affiliated tissues include myeloid, skin and lung, and related mouse phenotypes are tumorigenesis and hearing/vestibular/ear.

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:

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

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
Omeprazoleapproved, investigationalPhase 329973590-58-64594
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
Being Well Omeprazole
Belmazol
Bio-0888
C07324
CAS-73590-58-6
CCRIS 7099
CHEBI:519601
CHEBI:7772
CHEMBL1503
CID4594
CPD000058847
Care One Omeprazole
Ceprandal
D00455
DB00338
DB00736
DM-3458
Danlox
Demeprazol
Desec
Dg Health Omeprazole
Dizprazol
Dudencer
Elgam
Emeproton
Emilok
Epirazole
Equaline Omeprazole
Equate Omeprazole Delayed Release acid reducer
Erbolin
Esomeprazole
Esomperazole
Esopral
Exchange Select Omeprazole
Exter
Family Wellness Omeprazole
Formu Care Omeprazole
Fulton Street Market Omeprazole
Gasec
Gastrimut
Gastroloc
Gibancer
Good Neighbor Pharmacy Omeprazole
Good Sense Omeprazole
H 168-68
H 168/68
H-168/68
H168/68
HMS1528I05
HMS1569D07
HMS2052G17
HMS2090E16
HMS2090F11
HSDB 3575
Harmon Face Values Omeprazole
Health Mart Omeprazole
Healthy Accents Omeprazole
I06-0705
IDI1_032523
Indurgan
Inhibitron
Inhipump
Kirkland Signature Omeprazole
LS-7629
Leader Omeprazole
Lensor
Logastric
Lomac
Losec
Losec, Omesec, Prilosec, Zegerid, Omeprazole
Lucen
MLS000069373
MLS001076112
MLS001424148
Maybridge4_002645
Members Mark Omeprazole
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
Olex
Olexin
Olit
Omapren
Omebeta
Omebeta 20
Omed
Omegast
Omepradex
Omepral
Omeprazol
Omeprazol [INN-Spanish]
Omeprazole
Omeprazole (JAN/USP/INN)
Omeprazole Delayed Release
Omeprazole Delayed-release
Omeprazole Magnesium
Omeprazole Pellets
Omeprazole [USAN:INN:BAN:JAN]
Omeprazole delayed-release
Omeprazole magnesium
Omeprazole sodium
Omeprazolum
Omeprazolum [INN-Latin]
Omeprazon
Omeprazone
Omeprol
Omesec
Omesek
Omez
Omezol
Omezolan
Omid
Omisec
Omizac
Ompanyt
Ortanol
Osiren
Ozoken
Paprazol
Parizac
Pepticum
Pepticus
Peptilcer
Prazentol
Prazidec
Prazolit
Preferred Plus Omeprazole
Prestwick0_000493
Prestwick1_000493
Prestwick2_000493
Prestwick3_000493
Prestwick_808
Prilosec
Prilosec (TN)
Prilosec OTC
Procelac
Proclor
Prysma
Quality Choice Omeprazole
Ramezol
Regulacid
Result
S1389_Selleck
SAM001246900
SAN-15
SMR000058847
SPBio_002306
STK623746
Sanamidol
Secrepina
Shoprite Omeprazole
Simply Right Omeprazole
Smart Sense Omeprazole
Sunmark Omeprazole
TL8005099
Tedec Ulceral
Topcare Omeprazole
UNII-KG60484QX9
UPCMLD-DP075
UPCMLD-DP075:001
Ulceral
Ulcesep
Ulcometion
Ulcozol
Ulcsep
Ulsen
Ultop
Ulzol
Victrix
Zefxon
Zegerid
Zepral
Zimor
Zoltum
esomeprazol
omeprazole
2
Melatoninapproved, nutraceuticalPhase 321573-31-4896
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:

33
Myeloid, Skin, Lung, Colon, Bone, Eye, Kidney

Animal Models for Tetraploidy or affiliated genes

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MGI Mouse Phenotypes related to Tetraploidy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0LATS1, SOD2, TP73
2MP:00053778.7GFI1, SOD2, TP73
3MP:00107687.2CCNB1, GFI1, LATS1, SOD2, TP73

Publications for Tetraploidy

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Articles related to Tetraploidy:

(show top 50)    (show all 186)
idTitleAuthorsYear
1
Tetraploidy and CIN: a dangerous combination. (26517196)
2015
2
Tetraploidy acute promyelocytic leuemia with double t(15;17)/PML-RARA, a case report with review of literature. (25197424)
2014
3
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
4
A framework genetic map for Miscanthus sinensis from RNAseq-based markers shows recent tetraploidy. (22524439)
2012
5
Reed-Sternberg-like cells of ALK-positive anaplastic large cell lymphoma with near-tetraploidy. (22250643)
2012
6
AML associated with extensive erythrophagocytosis and tetraploidy. (21790789)
2011
7
Somatic tetraploidy in vertebrate neurons: Implications in physiology and pathology. (20585523)
2010
8
Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature. (20305547)
2010
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
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
11
Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: a result of failed tetraploidy correction? (19445731)
2009
12
A reevaluation of tetraploidy in the Alzheimer's disease brain. (19738367)
2009
13
Deregulated Aurora-B induced tetraploidy promotes tumorigenesis. (19332642)
2009
14
Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia. (17096407)
2008
15
The consequences of tetraploidy and aneuploidy. (19020304)
2008
16
Tetraploidy and 5q deletion in myelodysplastic syndrome: a case report. (18474300)
2008
17
Tetraploidy, aneuploidy and cancer. (17324569)
2007
18
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
19
Tetraploidy and chromosomal instability are early events during cervical carcinogenesis. (16123119)
2006
20
Occurrence of tetraploidy in Nicotiana attenuata plants after Agrobacterium-mediated transformation is genotype specific but independent of polysomaty of explant tissue. (16518637)
2006
21
Tetraploidy and tumor development. (16286243)
2005
22
Myeloid/natural killer cell precursor acute leukemia with tetraploidy. (16337859)
2005
23
Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi. (15658618)
2004
24
Near-triploidy and near-tetraploidy in hematological malignancies and mutation of the p53 gene. (14738434)
2004
25
G2 and spindle assembly checkpoint adaptation, and tetraploidy arrest: implications for intrinsic and chemically induced genomic instability. (14643440)
2003
26
Tetraploidy in a 26-month-old girl (cytogenetic and molecular studies). (11903358)
2002
27
Inhibition of poly(ADP-ribose) polymerase activity is insufficient to induce tetraploidy. (11160908)
2001
28
Tetraploidy in a growth-retarded fetus with a thick placenta. (9742582)
1998
29
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
30
Unique mosaicism of tetraploidy and trisomy 8: clinical, cytogenetic, and molecular findings in a live-born infant. (8882781)
1996
31
Near-tetraploidy in adult acute myelogenous leukemia. (8603334)
1996
32
Inactivation of p53 and the development of tetraploidy in the elastase-SV40 T antigen transgenic mouse pancreas. (8577673)
1995
33
Flow cytometric DNA analysis of neuroblastoma--clinical significance of DNA tetraploidy. (7972240)
1994
34
Prenatal diagnosis of tetraploidy. (8240691)
1993
35
Correlation between in vitro tetraploidy in skin fibroblasts and development of sporadic colorectal carcinomas. (2253181)
1990
36
Tetraploidy in a liveborn infant. (2074564)
1990
37
Tetraploidy in a 15-month-old girl. (3287924)
1988
38
MCA/MR syndrome in a female infant with tetraploidy mosaicism: review of the human polyploid phenotype. (3055989)
1988
39
Genetic improvement of Egyptian henbane, Hyoscyamus muticus L. through induced tetraploidy. (24240864)
1986
40
Chromosomes and causation of human cancer and leukemia. LIV. Near-tetraploidy in acute leukemia. (3855276)
1985
41
Near-tetraploidy in acute leukemia. (6429012)
1984
42
Tetraploidy and early development: effects on developmental timing and embryonic metabolism. (6175717)
1981
43
In vitro tetraploidy in familial polyposis coli. (6105360)
1980
44
Spontaneous occurrence of tetraploidy and near-haploidy in mammalian peripheral blood. (6054022)
1967
45
Cytological evidence of constant tetraploidy in the bisexual South American frog Odontophrynus americanus. (5959682)
1966
46
Experimental tetraploidy in newts. (13575652)
1958
47
Effect of tetraploidy on learning and retention in the salamander. (13432750)
1957
48
Colchicine-induced tetraploidy in Luzula purpurea Link. (14796716)
1950
49
TETRAPLOIDY IN ANTIRRHINUM MAJUS INDUCED BY SANGUINARINE HYDROCHLORIDE. (17791279)
1942
50
Tetraploidy in Citrus. (16576911)
1925

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 pathways (with members indented)ScoreTop Affiliating Genes
19.5LATS1, TP73
29.3CCNB1, TP73
3
Show member pathways
9.3CCNB1, TP73
4
Show member pathways
9.3CCNB1, TP73
5
Show member pathways
9.3CCNB1, SOD2
69.3CCNB1, SOD2
78.9CCNB1, LATS1, TP73

GO Terms for genes affiliated with Tetraploidy

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Cellular components related to Tetraploidy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spindle poleGO:00009229.4CCNB1, LATS1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1response to gamma radiationGO:00103329.9SOD2, TP73
2intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.8SOD2, TP73
3G2/M transition of mitotic cell cycleGO:00000869.7CCNB1, LATS1
4post-embryonic developmentGO:00097919.6SOD2, TP73
5G1/S transition of mitotic cell cycleGO:00000829.5CCNB1, LATS1
6negative regulation of neuron apoptotic processGO:00435249.5SOD2, TP73
7neuron developmentGO:00486669.1SOD2, TP73
8response to drugGO:00424938.8CCNB1, SOD2, TP73

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.1GFI1, TP73
2protein kinase bindingGO:00199018.6CCNB1, LATS1, TP73

Sources for Tetraploidy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet