MCID: TRP014
MIFTS: 43

Triploidy

Categories: Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Triploidy

MalaCards integrated aliases for Triploidy:

Name: Triploidy 49 55 28 69
Triploidy Syndrome 49 69
Chromosome Triploidy Syndrome 49
Triploid Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 10/11/2015

MalaCards based summary : Triploidy, also known as triploidy syndrome, is related to partial hydatidiform mole and hydatidiform mole, recurrent, 1, and has symptoms including cryptorchidism, hypospadias and ambiguous genitalia. 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.

Related Diseases for Triploidy

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 partial hydatidiform mole 29.7 KHDC3L NLRP7
2 hydatidiform mole, recurrent, 1 29.4 CGA KHDC3L NLRP7
3 down syndrome 29.1 AFP CGB7 PAPPA
4 diploid-triploid mosaicism 11.0
5 tetraploidy 10.6
6 ovarian mixed germ cell neoplasm 10.1 AFP CGA
7 polyembryoma 10.1 AFP CGA
8 mixed germ cell tumor 10.1 AFP CGA
9 trisomy 22 10.1 CGB7 PAPPA
10 chromosomal triplication 10.1 AFP CGA
11 malignant germ cell tumor 10.1 AFP CGA
12 nonseminomatous germ cell tumor 10.1 AFP CGB7
13 holoprosencephaly 10.1
14 hydrocele 10.1 AFP CGA
15 alpha-fetoprotein deficiency 10.0
16 leukemia 10.0
17 ectopic pregnancy 10.0 CGA PAPPA
18 uterine anomalies 10.0 AFP PAPPA
19 pre-eclampsia 10.0
20 eclampsia 10.0
21 turner syndrome 10.0
22 lymphoblastic leukemia 10.0
23 placenta disease 9.9 AFP PAPPA
24 teratoma 9.9 AFP CGA
25 severe pre-eclampsia 9.9
26 hellp syndrome 9.9
27 chromosomal disease 9.9 AFP PAPPA
28 sacrococcygeal teratoma 9.8 AFP CGA CGB7
29 testicular cancer 9.8 AFP CGA
30 seminoma 9.8 AFP CGA CGB7
31 orofaciodigital syndrome viii 9.8 AFP CGA PAPPA
32 choriocarcinoma 9.7 CGA CGB7
33 blood group, i system 9.7
34 nondisjunction 9.7
35 neural tube defects 9.7
36 fibrosarcoma 9.7
37 placental insufficiency 9.7
38 aging 9.7
39 pancreatitis 9.7
40 ovarian hyperstimulation syndrome 9.7
41 juvenile type testicular granulosa cell tumor 9.7
42 myelodysplastic syndrome 9.7
43 conjunctivitis 9.7
44 peripartum cardiomyopathy 9.7
45 cleft lip 9.7
46 hepatitis 9.7
47 mosaic trisomy 8 9.7
48 hypoxia 9.7
49 gestational trophoblastic neoplasm 9.7 KHDC3L NLRP7
50 diabetes mellitus, transient neonatal, 1 9.6 KHDC3L NLRP7

Graphical network of the top 20 diseases related to Triploidy:



Diseases related to Triploidy

Symptoms & Phenotypes for Triploidy

Human phenotypes related to Triploidy:

55 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 hypospadias 55 31 hallmark (90%) Very frequent (99-80%) HP:0000047
3 ambiguous genitalia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000062
4 wide mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000154
5 macroglossia 55 31 frequent (33%) Frequent (79-30%) HP:0000158
6 narrow mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000160
7 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
8 abnormality of the fontanelles or cranial sutures 55 31 hallmark (90%) Very frequent (99-80%) HP:0000235
9 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
10 macrocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000256
11 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
12 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
13 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
14 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
15 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
16 iris coloboma 55 31 frequent (33%) Frequent (79-30%) HP:0000612
17 narrow chest 55 31 frequent (33%) Frequent (79-30%) HP:0000774
18 holoprosencephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001360
19 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
20 omphalocele 55 31 frequent (33%) Frequent (79-30%) HP:0001539
21 polyhydramnios 55 31 frequent (33%) Frequent (79-30%) HP:0001561
22 abnormality of the pancreas 55 31 occasional (7.5%) Occasional (29-5%) HP:0001732
23 hepatomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002240
24 meningocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002435
25 intestinal malrotation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002566
26 abnormality of chromosome segregation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002916
27 decreased skull ossification 55 31 hallmark (90%) Very frequent (99-80%) HP:0004331
28 abnormality of the gallbladder 55 31 occasional (7.5%) Occasional (29-5%) HP:0005264
29 finger syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006101
30 aplasia/hypoplasia of the corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0007370
31 aplasia/hypoplasia affecting the eye 55 31 frequent (33%) Frequent (79-30%) HP:0008056
32 hypoplasia of penis 55 31 hallmark (90%) Very frequent (99-80%) HP:0008736
33 non-midline cleft lip 55 31 frequent (33%) Frequent (79-30%) HP:0100335
34 abnormality of the cardiac septa 55 Occasional (29-5%)
35 abnormal cardiac septum morphology 31 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 Nutraceutical

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

Search NIH Clinical Center for Triploidy

Genetic Tests for Triploidy

Genetic tests related to Triploidy:

# Genetic test Affiliating Genes
1 Triploidy 28

Anatomical Context for Triploidy

MalaCards organs/tissues related to Triploidy:

38
Eye, Pancreas, Testes, Liver, Bone, Brain, B Cells

Publications for Triploidy

Articles related to Triploidy:

(show top 50) (show all 316)
# 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
Genetic Counseling and Prenatal Diagnosis of Triploidy During the Second Trimester of Pregnancy. ( 28790549 )
2017
3
Triploidy - variability of sonographic phenotypes. ( 28573747 )
2017
4
Triploidy does not decrease contents of eicosapentaenoic and docosahexaenoic acids in filets of pink salmon Oncorhynchus gorbuscha. ( 27596393 )
2017
5
Autosomal Trisomy and Triploidy Are Corrected During Female Meiosis in Caenorhabditis elegans. ( 28882988 )
2017
6
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
7
Modifications in the proteome of rainbow trout (Oncorhynchus mykiss) embryo and fry as an effect of triploidy induction. ( 27848040 )
2016
8
First mixoploid infant with full triploidy in blood cells. ( 28008737 )
2016
9
Effects of triploidy induction on antioxidant defense status in rainbow trout (Oncorhynchus mykiss) during early development. ( 27324075 )
2016
10
Triploidy: Variation of Phenotype. ( 26712875 )
2016
11
Prenatal sonographic features of triploidy at 12-16 weeks. ( 27135789 )
2016
12
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
13
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive. ( 26566716 )
2016
14
Uncommon Presentation of Triploidy: A Case Report. ( 26557571 )
2015
15
Digynic triploidy: utility and challenges of noninvasive prenatal testing. ( 26185638 )
2015
16
Triploidy-Observations in 154 Diandric Cases. ( 26562155 )
2015
17
Effects of triploidy incidence on clinical outcomes for IVF-ET cycles in different ovarian stimulation protocols. ( 26220642 )
2015
18
The prevalence of vertebral deformities is increased with higher egg incubation temperatures and triploidy in Atlantic salmon Salmo salar L. ( 25664364 )
2015
19
First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. ( 26611869 )
2015
20
Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants. ( 25504873 )
2015
21
The frequency of spontaneous triploidy in farmed Atlantic salmon produced in Norway during the period 2007-2014. ( 25884873 )
2015
22
Transcriptomic Profiling of Gametogenesis in Triploid Pacific Oysters Crassostrea gigas: Towards an Understanding of Partial Sterility Associated with Triploidy. ( 25375782 )
2014
23
Vaccination and triploidy increase relative heart weight in farmed Atlantic salmon, Salmo salar L. ( 24422684 )
2014
24
Facial markers in second and third trimester fetuses with trisomies 18 and 13, Triploidy and Turner syndrome. ( 25175793 )
2014
25
Chromosomal manipulation in Senegalese sole (Solea senegalensis Kaup, 1858): induction of triploidy and gynogenesis. ( 25056710 )
2014
26
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
27
Detection of triploidy at 11-14a88weeks' gestation: a cohort study of 198a88000 pregnant women. ( 23494847 )
2013
28
Comparative cytogenetics between two species of the family Pseudopimelodidae (Siluriformes): occurrence of natural triploidy and supernumerary chromosomes. ( 24363190 )
2013
29
Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage. ( 23515668 )
2013
30
The effects of dissolved oxygen and triploidy on critical thermal maximum in brook charr (Salvelinus fontinalis). ( 23911981 )
2013
31
Effects of triploidy on growth and protein degradation in skeletal muscle during recovery from feed deprivation in juvenile rainbow trout (Oncorhynchus mykiss). ( 23707888 )
2013
32
Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy. ( 23881788 )
2013
33
Second-trimester diagnosis of triploidy: a series of four cases. ( 23943708 )
2013
34
Complete chorioamniotic separation and persistence of a yolk sac associated with triploidy. ( 24165059 )
2013
35
"Double trouble" or an amplification of the triploidy phenotype? ( 22515548 )
2013
36
First-trimester sonographic demonstration of digynic triploidy. ( 24411058 )
2013
37
Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood. ( 24135152 )
2013
38
Posterior brain in fetuses with trisomy 18, trisomy 13 and triploidy at 11 to 13 weeks' gestation. ( 22692599 )
2012
39
Widespread triploidy in Western North American aspen (Populus tremuloides). ( 23119006 )
2012
40
Triploidy induction in the Pacific white shrimp Litopenaeus vannamei: an assessment of induction agents and parameters, embryo viability, and early larval survival. ( 22327414 )
2012
41
A case of triploidy detected by crosstrimester test. ( 23181174 )
2012
42
The karyotype of Holoaden luederwaldti (Anura, Strabomantidae), with report of natural triploidy. ( 22980505 )
2012
43
Dilated fourth ventricle in fetuses with trisomy 18, trisomy 13 and triploidy at 11-13 weeks' gestation. ( 22846426 )
2012
44
Triploidy in the hematology of jundia juveniles (Siluriformes: Heptapteridae). ( 22437395 )
2012
45
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
46
A case of near-triploidy in myelodysplastic syndrome with del(5q) combined with del(1p) and del(13q). ( 22779072 )
2012
47
Triploidy alters brain morphology in pre-smolt Atlantic salmon Salmo salar: possible implications for behaviour. ( 23252734 )
2012
48
Karyotypic differentiation via 2n reduction and a finding of a case of triploidy in anurans of the genus Engystomops (Anura, Leiuperidae). ( 22350565 )
2011
49
Triploidy without molar change presenting as severe pre-eclampsia and left ventricular failure at 15 weeks. ( 21973144 )
2011
50
Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. ( 21990236 )
2011

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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