MCID: TRP014
MIFTS: 47

Triploidy

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Triploidy

MalaCards integrated aliases for Triploidy:

Name: Triploidy 53 59 29 73
Triploidy Syndrome 53 73
Chromosome Triploidy Syndrome 53
Triploid Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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 gestational trophoblastic neoplasm 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. The drug Omega 3 Fatty Acid has been mentioned in the context of this disorder. Affiliated tissues include eye, testes and pancreas, and related phenotypes are macrocephaly and hypertelorism

Wikipedia : 76 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 55)
# Related Disease Score Top Affiliating Genes
1 gestational trophoblastic neoplasm 30.1 KHDC3L NLRP7
2 partial hydatidiform mole 30.0 KHDC3L NLRP7
3 hydatidiform mole, recurrent, 1 30.0 CGA KHDC3L NLRP7
4 down syndrome 29.5 AFP CGB7 PAPPA
5 placenta disease 29.3 AFP CGA CGB7 PAPPA
6 diploid-triploid mosaicism 11.1
7 tetraploidy 10.8
8 holoprosencephaly 10.3
9 leukemia 10.2
10 pre-eclampsia 10.2
11 eclampsia 10.2
12 turner syndrome 10.2
13 leukemia, acute lymphoblastic 10.1
14 lymphocytic leukemia 10.1
15 trisomy 22 10.1 CGB7 PAPPA
16 teratoma 10.0 AFP CGA
17 ovarian mixed germ cell neoplasm 10.0 AFP CGA
18 patau syndrome 10.0
19 severe pre-eclampsia 10.0
20 hellp syndrome 10.0
21 polyembryoma 10.0 AFP CGA
22 mixed germ cell tumor 10.0 AFP CGA
23 testicular seminoma 10.0 AFP CGA
24 nonseminomatous germ cell tumor 10.0 AFP CGB7
25 chromosomal triplication 10.0 AFP CGA
26 intermediate malignant teratoma 10.0 AFP PAPPA
27 hydrocele 10.0 AFP CGA
28 oligohydramnios 9.9 AFP CGA
29 ectopic pregnancy 9.9 CGA CGB7 PAPPA
30 chromosomal disease 9.9 AFP PAPPA
31 sacrococcygeal teratoma 9.9 AFP CGA CGB7
32 testicular cancer 9.9 AFP CGA
33 uterine anomalies 9.9 AFP NLRP7
34 nondisjunction 9.9
35 neural tube defects 9.9
36 ovarian hyperstimulation syndrome 9.9
37 leukemia, chronic myeloid 9.9
38 myelodysplastic syndrome 9.9
39 peripartum cardiomyopathy 9.9
40 acute lymphoblastic leukemia, childhood 9.9
41 fibrosarcoma 9.9
42 placental insufficiency 9.9
43 juvenile type testicular granulosa cell tumor 9.9
44 cleft lip 9.9
45 dandy-walker complex 9.9
46 gestational trophoblastic tumor 9.9
47 hypoxia 9.9
48 semilobar holoprosencephaly 9.9
49 choriocarcinoma 9.9 CGA CGB7
50 seminoma 9.9 AFP CGA CGB7

Graphical network of the top 20 diseases related to Triploidy:



Diseases related to Triploidy

Symptoms & Phenotypes for Triploidy

Human phenotypes related to Triploidy:

59 32 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
3 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
4 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
5 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
6 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
7 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
8 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
9 abnormality of the gallbladder 59 32 occasional (7.5%) Occasional (29-5%) HP:0005264
10 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
11 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
12 narrow chest 59 32 frequent (33%) Frequent (79-30%) HP:0000774
13 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
14 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
15 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
16 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
17 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
18 abnormality of the pancreas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001732
19 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
20 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
21 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000160
22 abnormality of the fontanelles or cranial sutures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000235
23 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
24 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
25 hypoplasia of penis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008736
26 holoprosencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001360
27 iris coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000612
28 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
29 aplasia/hypoplasia affecting the eye 59 32 frequent (33%) Frequent (79-30%) HP:0008056
30 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
31 omphalocele 59 32 frequent (33%) Frequent (79-30%) HP:0001539
32 decreased skull ossification 59 32 hallmark (90%) Very frequent (99-80%) HP:0004331
33 abnormality of chromosome segregation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002916
34 abnormality of the cardiac septa 59 Occasional (29-5%)
35 abnormal cardiac septum morphology 32 occasional (7.5%) HP:0001671

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 Management of Abnormally Fertilized Zygotes? InVitro Correction of 3PN Completed NCT02358759 Early Phase 1
2 Disease Risk Reduction and Omega-3 Rich Rainbow Trout (Fish for Health) Recruiting NCT02204709 Not Applicable
3 Intra-abdominal Umbilical Vein Aneurysm Recruiting NCT03653884
4 SNP-based Microdeletion and Aneuploidy RegisTry (SMART) Recruiting NCT02381457

Search 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:

41
Eye, Testes, Pancreas, Brain, Bone, Placenta, Myeloid

Publications for Triploidy

Articles related to Triploidy:

(show top 50) (show all 328)
# Title Authors Year
1
Validation of a targeted next generation sequencing-based comprehensive chromosome screening platform for detection of triploidy in human blastocysts. ( 29366772 )
2018
2
Digynic triploidy in a fetus presenting with semilobar holoprosencephaly. ( 30545546 )
2018
3
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 )
2018
4
Triploidy in white sturgeon (Acipenser transmontanus): Effects of acute stress and warm acclimation on physiological performance. ( 30447389 )
2018
5
Autosomal Trisomy and Triploidy Are Corrected During Female Meiosis in Caenorhabditis elegans. ( 28882988 )
2017
6
Triploidy - variability of sonographic phenotypes. ( 28573747 )
2017
7
Triploidy does not decrease contents of eicosapentaenoic and docosahexaenoic acids in filets of pink salmon Oncorhynchus gorbuscha. ( 27596393 )
2017
8
Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy. ( 28790549 )
2017
9
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
10
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive. ( 26566716 )
2016
11
First mixoploid infant with full triploidy in blood cells. ( 28008737 )
2016
12
Triploidy: Variation of Phenotype. ( 26712875 )
2016
13
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
14
Prenatal sonographic features of triploidy at 12-16 weeks. ( 27135789 )
2016
15
Modifications in the proteome of rainbow trout (Oncorhynchus mykiss) embryo and fry as an effect of triploidy induction. ( 27848040 )
2016
16
Effects of triploidy induction on antioxidant defense status in rainbow trout (Oncorhynchus mykiss) during early development. ( 27324075 )
2016
17
Digynic triploidy: utility and challenges of noninvasive prenatal testing. ( 26185638 )
2015
18
First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. ( 26611869 )
2015
19
Triploidy-Observations in 154 Diandric Cases. ( 26562155 )
2015
20
Effects of triploidy incidence on clinical outcomes for IVF-ET cycles in different ovarian stimulation protocols. ( 26220642 )
2015
21
Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants. ( 25504873 )
2015
22
The prevalence of vertebral deformities is increased with higher egg incubation temperatures and triploidy in Atlantic salmon Salmo salar L. ( 25664364 )
2015
23
The frequency of spontaneous triploidy in farmed Atlantic salmon produced in Norway during the period 2007-2014. ( 25884873 )
2015
24
Uncommon Presentation of Triploidy: A Case Report. ( 26557571 )
2015
25
Facial markers in second and third trimester fetuses with trisomies 18 and 13, Triploidy and Turner syndrome. ( 25175793 )
2014
26
Vaccination and triploidy increase relative heart weight in farmed Atlantic salmon, Salmo salar L. ( 24422684 )
2014
27
Chromosomal manipulation in Senegalese sole (Solea senegalensis Kaup, 1858): induction of triploidy and gynogenesis. ( 25056710 )
2014
28
Transcriptomic Profiling of Gametogenesis in Triploid Pacific Oysters Crassostrea gigas: Towards an Understanding of Partial Sterility Associated with Triploidy. ( 25375782 )
2014
29
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
30
Detection of triploidy at 11-14a88weeks' gestation: a cohort study of 198a88000 pregnant women. ( 23494847 )
2013
31
"Double trouble" or an amplification of the triploidy phenotype? ( 22515548 )
2013
32
Second-trimester diagnosis of triploidy: a series of four cases. ( 23943708 )
2013
33
The effects of dissolved oxygen and triploidy on critical thermal maximum in brook charr (Salvelinus fontinalis). ( 23911981 )
2013
34
First-trimester sonographic demonstration of digynic triploidy. ( 24411058 )
2013
35
Comparative cytogenetics between two species of the family Pseudopimelodidae (Siluriformes): occurrence of natural triploidy and supernumerary chromosomes. ( 24363190 )
2013
36
Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy. ( 23881788 )
2013
37
Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage. ( 23515668 )
2013
38
Effects of triploidy on growth and protein degradation in skeletal muscle during recovery from feed deprivation in juvenile rainbow trout (Oncorhynchus mykiss). ( 23707888 )
2013
39
Complete chorioamniotic separation and persistence of a yolk sac associated with triploidy. ( 24165059 )
2013
40
Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood. ( 24135152 )
2013
41
A case of near-triploidy in myelodysplastic syndrome with del(5q) combined with del(1p) and del(13q). ( 22779072 )
2012
42
Triploidy in the hematology of jundia juveniles (Siluriformes: Heptapteridae). ( 22437395 )
2012
43
Triploidy alters brain morphology in pre-smolt Atlantic salmon Salmo salar: possible implications for behaviour. ( 23252734 )
2012
44
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
45
A case of triploidy detected by crosstrimester test. ( 23181174 )
2012
46
Posterior brain in fetuses with trisomy 18, trisomy 13 and triploidy at 11 to 13 weeks' gestation. ( 22692599 )
2012
47
Widespread triploidy in Western North American aspen (Populus tremuloides). ( 23119006 )
2012
48
The karyotype of Holoaden luederwaldti (Anura, Strabomantidae), with report of natural triploidy. ( 22980505 )
2012
49
Triploidy induction in the Pacific white shrimp Litopenaeus vannamei: an assessment of induction agents and parameters, embryo viability, and early larval survival. ( 22327414 )
2012
50
Dilated fourth ventricle in fetuses with trisomy 18, trisomy 13 and triploidy at 11-13 weeks' gestation. ( 22846426 )
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 region GO:0005576 9.26 AFP CGA CGB7 PAPPA
2 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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