MCID: TRP014
MIFTS: 43

Triploidy

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Triploidy

MalaCards integrated aliases for Triploidy:

Name: Triploidy 54 60 30 74
Triploidy Syndrome 54 74
Chromosome Triploidy Syndrome 54
Triploid Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
triploidy
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:



Summaries for Triploidy

NIH Rare Diseases : 54 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 gestational trophoblastic neoplasm. An important gene associated with Triploidy is CGA (Glycoprotein Hormones, Alpha Polypeptide), and among its related pathways/superpathways is Glucocorticoid receptor regulatory network. The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include eye, pancreas and testes, and related phenotypes are hypertelorism and cryptorchidism

Wikipedia : 77 Polyploidy is the state of a cell or organism having more than two paired (homologous) sets of... more...

Related Diseases for Triploidy

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 chromosomal triplication 30.6 AFP CGA
2 gestational trophoblastic neoplasm 30.0 KHDC3L NLRP7
3 partial hydatidiform mole 30.0 KHDC3L NLRP7
4 hydatidiform mole, recurrent, 1 29.8 CGA KHDC3L NLRP7
5 down syndrome 29.3 AFP CGB7 PAPPA
6 placenta disease 29.1 AFP CGA CGB7 PAPPA
7 diploid-triploid mosaicism 11.2
8 tetraploidy 10.8
9 holoprosencephaly 10.3
10 leukemia 10.2
11 patau syndrome 10.2
12 pre-eclampsia 10.2
13 eclampsia 10.2
14 turner syndrome 10.2
15 leukemia, acute lymphoblastic 10.1
16 lymphocytic leukemia 10.1
17 trisomy 22 10.1 CGB7 PAPPA
18 teratoma 10.1 AFP CGA
19 ovarian mixed germ cell neoplasm 10.0 AFP CGA
20 severe pre-eclampsia 10.0
21 hellp syndrome 10.0
22 polyembryoma 10.0 AFP CGA
23 mixed germ cell tumor 10.0 AFP CGA
24 testicular seminoma 10.0 AFP CGA
25 nonseminomatous germ cell tumor 10.0 AFP CGB7
26 intermediate malignant teratoma 10.0 AFP PAPPA
27 hydrocele 10.0 AFP CGA
28 oligohydramnios 9.9 AFP CGA
29 nondisjunction 9.9
30 neural tube defects 9.9
31 cystic fibrosis 9.9
32 ovarian hyperstimulation syndrome 9.9
33 leukemia, chronic myeloid 9.9
34 myelodysplastic syndrome 9.9
35 peripartum cardiomyopathy 9.9
36 acute leukemia 9.9
37 acute lymphoblastic leukemia, childhood 9.9
38 fibrosarcoma 9.9
39 placental insufficiency 9.9
40 juvenile type testicular granulosa cell tumor 9.9
41 cleft lip 9.9
42 dandy-walker complex 9.9
43 gestational trophoblastic tumor 9.9
44 xp22.3 microdeletion syndrome 9.9
45 hypoxia 9.9
46 semilobar holoprosencephaly 9.9
47 ectopic pregnancy 9.8 CGA CGB7 PAPPA
48 chromosomal disease 9.8 AFP PAPPA
49 sacrococcygeal teratoma 9.8 AFP CGA CGB7
50 testicular cancer 9.8 AFP CGA

Graphical network of the top 20 diseases related to Triploidy:



Diseases related to Triploidy

Symptoms & Phenotypes for Triploidy

Human phenotypes related to Triploidy:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
3 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
4 wide mouth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000154
5 hypospadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0000047
6 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
7 abnormality of the fontanelles or cranial sutures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000235
8 hypoplasia of penis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008736
9 decreased skull ossification 60 33 hallmark (90%) Very frequent (99-80%) HP:0004331
10 abnormality of chromosome segregation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002916
11 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
12 macroglossia 60 33 frequent (33%) Frequent (79-30%) HP:0000158
13 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
14 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
15 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
16 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
17 narrow chest 60 33 frequent (33%) Frequent (79-30%) HP:0000774
18 non-midline cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0100335
19 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
20 iris coloboma 60 33 frequent (33%) Frequent (79-30%) HP:0000612
21 aplasia/hypoplasia affecting the eye 60 33 frequent (33%) Frequent (79-30%) HP:0008056
22 omphalocele 60 33 frequent (33%) Frequent (79-30%) HP:0001539
23 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
24 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
25 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
26 abnormality of the gallbladder 60 33 occasional (7.5%) Occasional (29-5%) HP:0005264
27 abnormality of the pancreas 60 33 occasional (7.5%) Occasional (29-5%) HP:0001732
28 meningocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002435
29 narrow mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000160
30 intestinal malrotation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002566
31 holoprosencephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001360
32 ambiguous genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000062
33 aplasia/hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0007370
34 abnormal cardiac septum morphology 33 occasional (7.5%) HP:0001671
35 abnormality of the cardiac septa 60 Occasional (29-5%)

Drugs & Therapeutics for Triploidy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Replacement of Cytogenetics by aCGH in Prenatal Diagnosis Completed NCT03955588
2 Management of Abnormally Fertilized Zygotes? InVitro Correction of 3PN Completed NCT02358759 Early Phase 1
3 Disease Risk Reduction and Omega-3 Rich Rainbow Trout (Fish for Health) Recruiting NCT02204709 Not Applicable
4 Intra-abdominal Umbilical Vein Aneurysm Recruiting NCT03653884
5 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Active, not recruiting NCT02381457

Search NIH Clinical Center for Triploidy

Genetic Tests for Triploidy

Genetic tests related to Triploidy:

# Genetic test Affiliating Genes
1 Triploidy 30

Anatomical Context for Triploidy

MalaCards organs/tissues related to Triploidy:

42
Eye, Pancreas, Testes, Brain, Skeletal Muscle, Placenta, Myeloid

Publications for Triploidy

Articles related to Triploidy:

(show top 50) (show all 333)
# Title Authors Year
1
Identification of chromosomal abnormalities and genomic features in near-triploidy/tetraploidy-acute leukemia by fluorescence in situ hybridization. ( 30863166 )
2019
2
Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomies 13 and 18 and triploidy in women with low cell-free fetal DNA. ( 30014528 )
2019
3
Counting-based cell-free DNA screening test fails to identify triploidy-A case report. ( 30656016 )
2019
4
Effect of triploidy on digestive enzyme activity of early stages of turbot (Scophthalmus maximus). ( 30762186 )
2019
5
Triploidy and Routine Combined First Trimester Pregnancy Screening. ( 30800253 )
2019
6
Effect of triploidy on liver gene expression in coho salmon (Oncorhynchus kisutch) under different metabolic states. ( 31053056 )
2019
7
Digynic triploidy in a fetus presenting with semilobar holoprosencephaly. ( 30545546 )
2018
8
Validation of a targeted next generation sequencing-based comprehensive chromosome screening platform for detection of triploidy in human blastocysts. ( 29366772 )
2018
9
Triploidy in white sturgeon (Acipenser transmontanus): Effects of acute stress and warm acclimation on physiological performance. ( 30447389 )
2018
10
Triploidy does not decrease contents of eicosapentaenoic and docosahexaenoic acids in filets of pink salmon Oncorhynchus gorbuscha. ( 27596393 )
2017
11
Modifications in the proteome of rainbow trout (Oncorhynchus mykiss) embryo and fry as an effect of triploidy induction. ( 27848040 )
2017
12
Triploidy - variability of sonographic phenotypes. ( 28573747 )
2017
13
Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy. ( 28790549 )
2017
14
Autosomal Trisomy and Triploidy Are Corrected During Female Meiosis in Caenorhabditis elegans. ( 28882988 )
2017
15
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive. ( 26566716 )
2016
16
First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan. ( 26611869 )
2016
17
Triploidy: Variation of Phenotype. ( 26712875 )
2016
18
Effects of triploidy induction on physiological and immunological characteristics of rainbow trout (Oncorhynchus mykiss) at early developmental stages (fertilized eggs, eyed eggs and fry). ( 26725940 )
2016
19
Intron sequence of the taurocyamine kinase gene as a marker to investigate genetic variation of Paragonimus species in Japan and the origins of triploidy in P. westermani. ( 26740364 )
2016
20
Prenatal sonographic features of triploidy at 12-16 weeks. ( 27135789 )
2016
21
Effects of triploidy induction on antioxidant defense status in rainbow trout (Oncorhynchus mykiss) during early development. ( 27324075 )
2016
22
First mixoploid infant with full triploidy in blood cells. ( 28008737 )
2016
23
Comparative cytogenetics between two species of the family Pseudopimelodidae (Siluriformes): occurrence of natural triploidy and supernumerary chromosomes. ( 24363190 )
2015
24
Vaccination and triploidy increase relative heart weight in farmed Atlantic salmon, Salmo salar L. ( 24422684 )
2015
25
Chromosomal manipulation in Senegalese sole (Solea senegalensis Kaup, 1858): induction of triploidy and gynogenesis. ( 25056710 )
2015
26
Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome. ( 25175793 )
2015
27
Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants. ( 25504873 )
2015
28
The prevalence of vertebral deformities is increased with higher egg incubation temperatures and triploidy in Atlantic salmon Salmo salar L. ( 25664364 )
2015
29
The frequency of spontaneous triploidy in farmed Atlantic salmon produced in Norway during the period 2007-2014. ( 25884873 )
2015
30
Digynic triploidy: utility and challenges of noninvasive prenatal testing. ( 26185638 )
2015
31
Effects of triploidy incidence on clinical outcomes for IVF-ET cycles in different ovarian stimulation protocols. ( 26220642 )
2015
32
Uncommon Presentation of Triploidy: A Case Report. ( 26557571 )
2015
33
Triploidy--Observations in 154 Diandric Cases. ( 26562155 )
2015
34
Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood. ( 24135152 )
2014
35
Genetic differentiation among distinct karyomorphs of the wolf fish Hoplias malabaricus species complex (Characiformes, Erythrinidae) and report of unusual hybridization with natural triploidy. ( 25263542 )
2014
36
Transcriptomic profiling of gametogenesis in triploid Pacific Oysters Crassostrea gigas: towards an understanding of partial sterility associated with triploidy. ( 25375782 )
2014
37
"Double trouble" or an amplification of the triploidy phenotype? ( 22515548 )
2013
38
Detection of triploidy at 11-14 weeks' gestation: a cohort study of 198 000 pregnant women. ( 23494847 )
2013
39
Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage. ( 23515668 )
2013
40
Effects of triploidy on growth and protein degradation in skeletal muscle during recovery from feed deprivation in juvenile rainbow trout (Oncorhynchus mykiss). ( 23707888 )
2013
41
Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy. ( 23881788 )
2013
42
The effects of dissolved oxygen and triploidy on critical thermal maximum in brook charr (Salvelinus fontinalis). ( 23911981 )
2013
43
Second-trimester diagnosis of triploidy: a series of four cases. ( 23943708 )
2013
44
Complete chorioamniotic separation and persistence of a yolk sac associated with triploidy. ( 24165059 )
2013
45
First-trimester sonographic demonstration of digynic triploidy. ( 24411058 )
2013
46
A case of near-triploidy in myelodysplastic syndrome with del(5q) combined with del(1p) and del(13q). ( 22779072 )
2012
47
Triploidy induction in the Pacific white shrimp Litopenaeus vannamei: an assessment of induction agents and parameters, embryo viability, and early larval survival. ( 22327414 )
2012
48
Triploidy in the hematology of jundia juveniles (Siluriformes: Heptapteridae). ( 22437395 )
2012
49
The effect of triploidy and vaccination on neutrophils and B-cells in the peripheral blood and head kidney of 0+ and 1+ Atlantic salmon (Salmo salar L.) post-smolts. ( 22538351 )
2012
50
Posterior brain in fetuses with trisomy 18, trisomy 13 and triploidy at 11 to 13 weeks' gestation. ( 22692599 )
2012

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 AFP CGA

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 AFP CGA CGB7 PAPPA

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 CGA CGB7

Sources for Triploidy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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