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MCID: TRP014
MIFTS: 42

Triploidy

Categories: Eye diseases, Fetal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Triploidy

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MalaCards integrated aliases for Triploidy:

Name: Triploidy 52 58 29 71
Triploidy Syndrome 52 71
Chromosome Triploidy Syndrome 52
Triploid Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
triploidy
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


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Summaries for Triploidy

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NIH Rare Diseases : 52 Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell . Most pregnancies affected by triploidy are lost through early miscarriage . However, reports exist of some affected babies living up to five months. Those that survive are often mosaic . The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.

MalaCards based summary : Triploidy, also known as triploidy syndrome, is related to partial hydatidiform mole and chromosomal triplication. An important gene associated with Triploidy is CGA (Glycoprotein Hormones, Alpha Polypeptide), and among its related pathways/superpathways is Glucocorticoid receptor regulatory network. The drugs leucovorin and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include testes, placenta and eye, and related phenotypes are hypertelorism and cryptorchidism

Wikipedia : 74 Triploid syndrome, also called triploidy, is a chromosomal disorder in which a fetus has three copies of... more...

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Related Diseases for Triploidy

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Diseases related to Triploidy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 131)
# Related Disease Score Top Affiliating Genes
1 partial hydatidiform mole 30.4 NLRP7 KHDC3L
2 chromosomal triplication 30.4 PAPPA CGB7 AFP
3 patau syndrome 30.4 PAPPA AFP
4 hydatidiform mole, recurrent, 1 30.0 NLRP7 KHDC3L CGA
5 oligohydramnios 29.9 PAPPA CGA AFP
6 trisomy 22 29.9 PAPPA CGB7
7 gestational trophoblastic neoplasm 29.8 NLRP7 KHDC3L AFP
8 ovarian cyst 29.7 CGA AFP
9 neural tube defects 29.6 PAPPA CGB7 AFP
10 cystic lymphangioma 29.6 PAPPA AFP
11 pre-eclampsia 29.5 PAPPA CGB7 CGA AFP
12 down syndrome 29.5 PAPPA CGB7 CGA AFP
13 placental insufficiency 29.5 PAPPA AFP
14 choriocarcinoma 29.4 CGB7 CGA
15 silver-russell syndrome 1 29.2 NLRP7 KHDC3L
16 placenta disease 29.1 PAPPA CGB7 CGA AFP
17 cryptorchidism, unilateral or bilateral 29.0 CGA AFP
18 seminoma 28.7 NLRP7 CGB7 CGA AFP
19 diploid-triploid mosaicism 11.6
20 tetraploidy 10.9
21 polyploidy 10.9
22 chromosome 2q35 duplication syndrome 10.5
23 holoprosencephaly 10.4
24 eclampsia 10.4
25 47,xyy 10.4
26 hydrocephalus 10.3
27 turner syndrome 10.3
28 hypertelorism 10.3
29 hair whorl 10.2
30 cleft palate, isolated 10.2
31 nondisjunction 10.2
32 leukemia, acute lymphoblastic 10.2
33 myelomeningocele 10.2
34 severe pre-eclampsia 10.2
35 gonadal dysgenesis 10.2
36 cleft lip 10.2
37 coloboma of macula 10.1
38 omphalocele 10.1
39 microcephaly 10.1
40 macroglossia 10.0
41 hydrocephalus, congenital, 1 10.0
42 myelodysplastic syndrome 10.0
43 microphthalmia 10.0
44 meningocele 10.0
45 leukemia 10.0
46 hellp syndrome 10.0
47 ventricular septal defect 10.0
48 infertility 10.0
49 exophthalmos 10.0
50 encephalocele 10.0

Graphical network of the top 20 diseases related to Triploidy:



Diseases related to Triploidy
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Symptoms & Phenotypes for Triploidy

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Human phenotypes related to Triploidy:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
5 abnormality of the fontanelles or cranial sutures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000235
6 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
7 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
8 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
9 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
10 abnormality of chromosome segregation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002916
11 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
12 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
13 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
14 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
15 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
16 iris coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000612
17 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
18 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
19 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
20 aplasia/hypoplasia affecting the eye 58 31 frequent (33%) Frequent (79-30%) HP:0008056
21 omphalocele 58 31 frequent (33%) Frequent (79-30%) HP:0001539
22 non-midline cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100335
23 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
24 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
25 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
26 abnormality of the gallbladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005264
27 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
28 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
29 abnormal cardiac septum morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001671
30 holoprosencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001360
31 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
32 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
33 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
34 abnormality of the pancreas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001732
Sources

Drugs & Therapeutics for Triploidy

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
2
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
3
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
4
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
5
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
6
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
7 Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
8
Cytarabine Approved, Experimental, Investigational Phase 2, Phase 3 147-94-4, 65-46-3 6253
9
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
10
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
11 Immunologic Factors Phase 2, Phase 3
12 Folic Acid Antagonists Phase 2, Phase 3
13 Methylprednisolone Acetate Phase 2, Phase 3
14 Vitamin B Complex Phase 2, Phase 3
15 Anti-Infective Agents Phase 2, Phase 3
16 Folate Phase 2, Phase 3
17 Immunosuppressive Agents Phase 2, Phase 3
18 Antiviral Agents Phase 2, Phase 3
19 Dermatologic Agents Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Antimetabolites Phase 2, Phase 3
22 Vitamin B9 Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Study on CNS Prophylaxis With Liposome-Encapsulated Cytarabine in Association With a Lineage-Targeted and MRD-Oriented Postremission Strategy in Adult ALL Completed NCT00795756 Phase 2, Phase 3 liposome-encapsulated cytarabine (DepoCyte);Triple intrathecal therapy (TIT)
2 GRAALL 2003 Trial (ALL 15-59 Years). Feasibility of Risk-Adapted Therapy in Young Adult Acute Lymphoblastic Leukemia: a Multicenter Trial Completed NCT00222027 Phase 2
3 Treatment of Abnormally Multinucleated Zygotes Before Before Division Starting. Completed NCT02358759 Early Phase 1
4 SNP-based Microdeletion and Aneuploidy RegisTry Active, not recruiting NCT02381457

Search NIH Clinical Center for Triploidy

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Genetic Tests for Triploidy

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Genetic tests related to Triploidy:

# Genetic test Affiliating Genes
1 Triploidy 29
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Anatomical Context for Triploidy

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MalaCards organs/tissues related to Triploidy:

40
Testes, Placenta, Eye, Bone, Heart, Pancreas, B Cells
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Publications for Triploidy

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Articles related to Triploidy:

(show top 50) (show all 1193)
# Title Authors PMID Year
1
Genetic abnormalities seen on CVS in early pregnancy failure. 61
30373416 2020
2
Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy. 61
32483273 2020
3
Chromosome aberrations in pressure-induced triploid Atlantic salmon. 61
32505176 2020
4
Prevalence of Partial Hydatidiform Mole in Products of Conception From Gestations With Fetal Triploidy Merits Reflex Genotype Testing Independent of the Morphologic Appearance of the Chorionic Villi. 61
32205485 2020
5
Impact of cytogenetic abnormalities on outcomes of adult Philadelphia-negative acute lymphoblastic leukemia after allogeneic hematopoietic stem cell transplantation: a study by the Acute Leukemia Working Committee of the Center for International Blood and Marrow Transplant Research. 61
31558669 2020
6
Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review. 61
32219520 2020
7
Expression of the syncytin-1 and syncytin-2 genes in the trophoblastic tissue of the early pregnancy losses with normal and abnormal karyotypes. 61
32145327 2020
8
Prenatal sonographic features can accurately determine parental origin in triploid pregnancies. 61
32039494 2020
9
Molar and nonmolar triploidy: Recurrence or bad luck. 61
32477517 2020
10
ETV2-null porcine embryos survive to post-implantation following incomplete enucleation. 61
31990674 2020
11
Is it advantageous for Atlantic salmon to be triploid at lower temperatures? 61
32364990 2020
12
Clinical performance of DNA-based prenatal screening using single-nucleotide polymorphisms approach in Thai women with singleton pregnancy. 61
32329244 2020
13
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. 61
31955448 2020
14
Vertebral deformities in interspecific diploid and triploid salmonid hybrids. 61
32307707 2020
15
Preventing polyspermy in mammalian eggs-Contributions of the membrane block and other mechanisms. 61
32219915 2020
16
Genotype calling of triploid offspring from diploid parents. 61
32188420 2020
17
First Report on Successful Triploidy Induction in Clarias gariepinus (Burchell, 1822) Using Electroporation. 61
32051528 2020
18
A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles. 61
32055942 2020
19
Triploidy in Chinese parthenogenetic Helophorus orientalis Motschulsky, 1860, further data on parthenogenetic H. brevipalpis Bedel, 1881 and a brief discussion of parthenogenesis in Hydrophiloidea (Coleoptera). 61
31988701 2020
20
Triploidy in zebrafish larvae: Effects on gene expression, cell size and cell number, growth, development and swimming performance. 61
32119699 2020
21
A Single, Shared Triploidy in Three Species of Parasitic Nematodes. 61
31694855 2020
22
Hybrid between Danio rerio female and Danio nigrofasciatus male produces aneuploid sperm with limited fertilization capacity. 61
32470029 2020
23
Triploid Citrus Genotypes Have a Better Tolerance to Natural Chilling Conditions of Photosynthetic Capacities and Specific Leaf Volatile Organic Compounds. 61
32391024 2020
24
Production and use of triploid zebrafish for surrogate reproduction. 61
31425935 2019
25
Screening of triploid with low-coverage whole-genome sequencing by a single-nucleotide polymorphism-based test in miscarriage tissue. 61
31720905 2019
26
Post-zygotic diploidization of triploidy in human is possible? - a case of triploid partial molar pregnancy resulting in a premature live-born diploid female infant. 61
32112547 2019
27
Combining the use of a fetal fraction-based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy. 61
31872514 2019
28
The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities. 61
30241105 2019
29
First trimester uterine artery pulsatility index levels in euploid and aneuploid pregnancies. 61
31616987 2019
30
Early prenatal detection of triploidy: a 9-year experience in mainland China. 61
31852294 2019
31
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. 61
31373173 2019
32
Differentiating diploid and triploid individuals using single nucleotide polymorphisms genotyped by amplicon sequencing. 61
31448561 2019
33
Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. 61
31395308 2019
34
State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study. 61
31625225 2019
35
FxCycle™ Based Ploidy Correlates with Cytogenetic Ploidy in B-Cell Acute Lymphoblastic Leukemia and Is Able to Detect the Aneuploid Minimal Residual Disease Clone. 61
30715800 2019
36
Intraspecific Variation in Protists: Clues for Microevolution from Poteriospumella lacustris (Chrysophyceae). 61
31384914 2019
37
Meta-Analysis of Cancer Triploidy: Rearrangements of Genome Complements in Male Human Tumors Are Characterized by XXY Karyotypes. 61
31412657 2019
38
Comparison of quantitative fluorescent polymerase chain reaction and karyotype analysis for prenatal screening of chromosomal aneuploidies in 270 amniotic fluid samples. 61
31194688 2019
39
Conserved sex chromosomes and karyotype evolution in monitor lizards (Varanidae). 61
30670841 2019
40
Importance of Follow-Up and Early Detailed Evaluation in Early Onset Growth Restricted Fetuses. 61
32042464 2019
41
When Three Isn't a Crowd: A Digyny Concept for Treatment-Resistant, Near-Triploid Human Cancers. 61
31331093 2019
42
The Frequency of Chromosomal Euploidy Among 3PN Embryos. 61
31423415 2019
43
Subarachnoid space diameter in chromosomally abnormal fetuses at 11-13 weeks' gestation. 61
29338474 2019
44
Genome sequencing and implications for rare disorders. 61
31234920 2019
45
Effect of triploidy on liver gene expression in coho salmon (Oncorhynchus kisutch) under different metabolic states. 61
31053056 2019
46
Effect of triploidy on digestive enzyme activity of early stages of turbot (Scophthalmus maximus). 61
30762186 2019
47
Hydatidiform molar pregnancy following assisted reproduction. 61
30612209 2019
48
Triploidy in white sturgeon (Acipenser transmontanus): Effects of acute stress and warm acclimation on physiological performance. 61
30447389 2019
49
Placental mesenchymal dysplasia: An underdiagnosed placental pathology with various clinical outcomes. 61
30703717 2019
50
Counting-based cell-free DNA screening test fails to identify triploidy-A case report. 61
30656016 2019
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Variations for Triploidy

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Expression for Triploidy

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Search GEO for disease gene expression data for Triploidy.
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Pathways for Triploidy

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Pathways related to Triploidy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Glucocorticoid receptor regulatory network 1
10.54 CGA AFP
Sources

GO Terms for Triploidy

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.92 PAPPA CGB7 CGA AFP

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 CGB7 CGA
Sources

Sources for Triploidy

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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