MCID: TRP014
MIFTS: 38

Triploidy

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Triploidy

MalaCards integrated aliases for Triploidy:

Name: Triploidy 20 58 29 70
Triploidy Syndrome 20 70
Chromosome Triploidy Syndrome 20
Triploid Syndrome 20

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:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Triploidy

GARD : 20 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 chromosomal triplication and partial hydatidiform mole. An important gene associated with Triploidy is CGA (Glycoprotein Hormones, Alpha Polypeptide), and among its related pathways/superpathways is Glucocorticoid receptor regulatory network. Affiliated tissues include eye, placenta and pancreas, and related phenotypes are hypertelorism and cryptorchidism

Wikipedia : 73 Polyploidy is a condition in which the cells of an organism have more than two paired (homologous) sets... more...

Related Diseases for Triploidy

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

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 30.4 PAPPA CGB7 AFP
2 partial hydatidiform mole 30.4 NLRP7 KHDC3L
3 patau syndrome 30.3 PAPPA AFP
4 hydatidiform mole, recurrent, 1 30.1 NLRP7 KHDC3L CGA
5 pre-eclampsia 30.0 PAPPA CGB7 AFP
6 oligohydramnios 29.9 PAPPA CGA AFP
7 neural tube defects 29.7 PAPPA CGB7 AFP
8 trisomy 22 29.7 PAPPA CGB7
9 down syndrome 29.7 PAPPA CGB7 CGA AFP
10 gestational trophoblastic neoplasm 29.5 PAPPA NLRP7 KHDC3L AFP
11 cystic lymphangioma 29.5 PAPPA AFP
12 placental insufficiency 29.4 PAPPA AFP
13 silver-russell syndrome 1 29.3 NLRP7 KHDC3L
14 cryptorchidism, unilateral or bilateral 29.3 CGA AFP
15 placenta disease 29.2 PAPPA CGB7 CGA AFP
16 seminoma 28.9 NLRP7 CGB7 CGA AFP
17 diploid-triploid mosaicism 11.0
18 tetraploidy 10.4
19 polyploidy 10.4
20 chromosome 2q35 duplication syndrome 10.4
21 holoprosencephaly 10.3
22 eclampsia 10.3
23 47,xyy 10.2
24 hydrocephalus 10.2
25 turner syndrome 10.2
26 hypertelorism 10.1
27 hair whorl 10.1
28 cleft palate, isolated 10.1
29 nondisjunction 10.1
30 leukemia, acute lymphoblastic 10.1
31 myelomeningocele 10.1
32 severe pre-eclampsia 10.1
33 gonadal dysgenesis 10.1
34 cleft lip 10.1
35 polyembryoma 10.0 CGA AFP
36 coloboma of macula 10.0
37 hydrocephalus, congenital, 1 10.0
38 omphalocele 10.0
39 microcephaly 10.0
40 leukemia 10.0
41 hellp syndrome 10.0
42 mixed germ cell tumor 10.0 CGA AFP
43 ovarian mixed germ cell neoplasm 10.0 CGA AFP
44 hydrocele 10.0 CGA AFP
45 nonseminomatous germ cell tumor 10.0 CGB7 AFP
46 germinoma 9.9 CGA AFP
47 choriocarcinoma 9.9 CGB7 CGA
48 intermediate malignant teratoma 9.9 PAPPA AFP
49 macroglossia 9.9
50 ovarian hyperstimulation syndrome 9.9

Graphical network of the top 20 diseases related to Triploidy:



Diseases related to Triploidy

Symptoms & Phenotypes for Triploidy

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 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
24 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
25 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
26 abnormality of the gallbladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005264
27 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
28 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000160
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

Drugs & Therapeutics for Triploidy

Search Clinical Trials , NIH Clinical Center for Triploidy

Genetic Tests for Triploidy

Genetic tests related to Triploidy:

# Genetic test Affiliating Genes
1 Triploidy 29

Anatomical Context for Triploidy

MalaCards organs/tissues related to Triploidy:

40
Eye, Placenta, Pancreas, Testis, Thymus, Smooth Muscle, Skeletal Muscle

Publications for Triploidy

Articles related to Triploidy:

(show top 50) (show all 1210)
# Title Authors PMID Year
1
Rare chromosomal abnormalities: Can they be identified using conventional first trimester combined screening methods? 61
33733087 2021
2
Long-term follow-up of salvage therapy using a combination of inotuzumab ozogamicin and mini-hyper-CVD with or without blinatumomab in relapsed/refractory Philadelphia chromosome-negative acute lymphoblastic leukemia. 61
33740268 2021
3
Recurrent fetal triploidy: is there a genetic cause? 61
33653854 2021
4
Improved response of triploid citrus varieties to water deficit is related to anatomical and cytological properties. 61
33812345 2021
5
From glacial refugia to hydrological microrefugia: Factors and processes driving the persistence of the climate relict tree Zelkova sicula. 61
33767847 2021
6
Correlation of first-trimester thymus size with chromosomal anomalies. 61
33561911 2021
7
Genome-wide abnormalities in embryos: Origins and clinical consequences. 61
33524193 2021
8
Twin pregnancies discordant for digynic triploidy - A case series. 61
33494988 2021
9
Clinical utilization of chromosomal microarray analysis for the genetic analysis in subgroups of pregnancy loss. 61
33228446 2020
10
Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy. 61
32483273 2020
11
Transcriptome sequencing and histology reveal dosage compensation in the liver of triploid pre-smolt Atlantic salmon. 61
33033342 2020
12
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 2020
13
Maternal complications of fetal triploidy: a case report. 61
33130583 2020
14
Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy. 61
32938693 2020
15
The Amazonian Red Side-Necked Turtle Rhinemys rufipes (Spix, 1824) (Testudines, Chelidae) Has a GSD Sex-Determining Mechanism with an Ancient XY Sex Microchromosome System. 61
32932633 2020
16
A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles. 61
32055942 2020
17
State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study. 61
31625225 2020
18
Genetic abnormalities seen on CVS in early pregnancy failure. 61
30373416 2020
19
Clinical performance of DNA-based prenatal screening using single-nucleotide polymorphisms approach in Thai women with singleton pregnancy. 61
32329244 2020
20
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
21
Chromosome aberrations in pressure-induced triploid Atlantic salmon. 61
32505176 2020
22
ETV2-null porcine embryos survive to post-implantation following incomplete enucleation. 61
31990674 2020
23
Prenatal sonographic features can accurately determine parental origin in triploid pregnancies. 61
32039494 2020
24
Molar and nonmolar triploidy: Recurrence or bad luck. 61
32477517 2020
25
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
26
Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review. 61
32219520 2020
27
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
28
Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. 61
31955448 2020
29
Vertebral deformities in interspecific diploid and triploid salmonid hybrids. 61
32307707 2020
30
Is it advantageous for Atlantic salmon to be triploid at lower temperatures? 61
32364990 2020
31
Genotype calling of triploid offspring from diploid parents. 61
32188420 2020
32
Preventing polyspermy in mammalian eggs-Contributions of the membrane block and other mechanisms. 61
32219915 2020
33
First Report on Successful Triploidy Induction in Clarias gariepinus (Burchell, 1822) Using Electroporation. 61
32051528 2020
34
Triploidy in Citrus Genotypes Improves Leaf Gas Exchange and Antioxidant Recovery From Water Deficit. 61
33679818 2020
35
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
36
A Single, Shared Triploidy in Three Species of Parasitic Nematodes. 61
31694855 2020
37
Triploidy in zebrafish larvae: Effects on gene expression, cell size and cell number, growth, development and swimming performance. 61
32119699 2020
38
Hybrid between Danio rerio female and Danio nigrofasciatus male produces aneuploid sperm with limited fertilization capacity. 61
32470029 2020
39
Triploid Citrus Genotypes Have a Better Tolerance to Natural Chilling Conditions of Photosynthetic Capacities and Specific Leaf Volatile Organic Compounds. 61
32391024 2020
40
Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies. 61
33240322 2020
41
Production and use of triploid zebrafish for surrogate reproduction. 61
31425935 2019
42
Screening of triploid with low-coverage whole-genome sequencing by a single-nucleotide polymorphism-based test in miscarriage tissue. 61
31720905 2019
43
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
44
The Value of Detailed First-Trimester Ultrasound Anomaly Scan for the Detection of Chromosomal Abnormalities. 61
30241105 2019
45
Early prenatal detection of triploidy: a 9-year experience in mainland China. 61
31852294 2019
46
First trimester uterine artery pulsatility index levels in euploid and aneuploid pregnancies. 61
31616987 2019
47
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. 61
31373173 2019
48
Differentiating diploid and triploid individuals using single nucleotide polymorphisms genotyped by amplicon sequencing. 61
31448561 2019
49
Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. 61
31395308 2019
50
Intraspecific Variation in Protists: Clues for Microevolution from Poteriospumella lacustris (Chrysophyceae). 61
31384914 2019

Variations for Triploidy

Expression for Triploidy

Search GEO for disease gene expression data for Triploidy.

Pathways for Triploidy

Pathways related to Triploidy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.54 CGA AFP

GO Terms for Triploidy

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 for Triploidy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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