MCID: TRP014
MIFTS: 40

Triploidy malady

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

Aliases & Classifications for Triploidy

Aliases & Descriptions for Triploidy:

Name: Triploidy 50 56 69
Triploidy Syndrome 50 29 69
Chromosome Triploidy Syndrome 50
Triploid Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
triploidy
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:



External Ids:

Orphanet 56 ORPHA3376
MESH via Orphanet 43 D057885
UMLS via Orphanet 70 C0333693
ICD10 via Orphanet 34 Q92.7

Summaries for Triploidy

NIH Rare Diseases : 50 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 diploid-triploid mosaicism and tetraploidy, 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)
id Related Disease Score Top Affiliating Genes
1 diploid-triploid mosaicism 10.8
2 tetraploidy 10.5
3 renal pelvis transitional cell carcinoma 10.1 AFP CGA
4 true unicornuate uterus 10.1 AFP CGA
5 tuberculous uveitis 10.1 CGB7 PAPPA
6 pontine hemorrhage 10.1 AFP CGA
7 chromosome 11q duplication 10.1 AFP CGA
8 novak syndrome 10.1 AFP CGB7
9 malignant teratocarcinosarcoma 10.1 AFP CGA
10 lymph node disease 10.1 AFP CGA
11 blepharochalasis 10.0 AFP PAPPA
12 diabetes mellitus, insulin-resistant, with acanthosis nigricans 10.0 AFP CGA
13 spinal multifocal clear cell meningioma 10.0 AFP PAPPA
14 holoprosencephaly 10.0
15 partial hydatidiform mole 10.0
16 severe combined immunodeficiency 10.0 AFP CGA CGB7
17 breast myoepithelial neoplasm 10.0 AFP CGA
18 parameningeal embryonal rhabdomyosarcoma 10.0 CGA CGB7 PAPPA
19 shwachman-diamond type metaphyseal dysplasia 10.0 AFP PAPPA
20 atopic dermatitis 9.9 AFP CGA CGB7
21 hereditary renal cell carcinoma 9.9 AFP CGA CGB7
22 ophthalmoplegia, progressive, with scrotal tongue and mental deficiency 9.9 AFP CGA PAPPA
23 shoulder and girdle defects-familial intellectual disability syndrome 9.9 KHDC3L NLRP7
24 leukemia 9.9
25 ovarian mucinous cystadenocarcinoma 9.9 CGA CGB7
26 toxic encephalopathy 9.9 KHDC3L NLRP7
27 retinal dystrophy in systemic or cerebroretinal lipidoses 9.9 AFP CGB7 PAPPA
28 deafness, autosomal recessive 66 9.9 KHDC3L NLRP7
29 turner syndrome 9.9
30 lymphoblastic leukemia 9.9
31 pre-eclampsia 9.9
32 eclampsia 9.9
33 microcephaly, seizures, and developmental delay 9.8 CGA KHDC3L NLRP7
34 tick infestation 9.8 CGA KHDC3L NLRP7
35 severe pre-eclampsia 9.8
36 hellp syndrome 9.8
37 toxascariasis 9.7 AFP KHDC3L NLRP7
38 down syndrome 9.6
39 fibrosarcoma 9.6
40 placental insufficiency 9.6
41 pancreatitis 9.6
42 conjunctivitis 9.6
43 ovarian hyperstimulation syndrome 9.6
44 cleft lip 9.6
45 myelodysplastic syndrome 9.6
46 birth defects 9.6
47 hepatitis 9.6
48 mosaic trisomy 8 9.6
49 peripartum cardiomyopathy 9.6
50 cardiomyopathy 9.6

Graphical network of the top 20 diseases related to Triploidy:



Diseases related to Triploidy

Symptoms & Phenotypes for Triploidy

Human phenotypes related to Triploidy:

56 32 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 56 32 Very frequent (99-80%) HP:0000028
2 hypospadias 56 32 Very frequent (99-80%) HP:0000047
3 ambiguous genitalia 56 32 Occasional (29-5%) HP:0000062
4 wide mouth 56 32 Very frequent (99-80%) HP:0000154
5 macroglossia 56 32 Frequent (79-30%) HP:0000158
6 narrow mouth 56 32 Occasional (29-5%) HP:0000160
7 cleft palate 56 32 Frequent (79-30%) HP:0000175
8 abnormality of the fontanelles or cranial sutures 56 32 Very frequent (99-80%) HP:0000235
9 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
10 macrocephaly 56 32 Occasional (29-5%) HP:0000256
11 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
12 micrognathia 56 32 Frequent (79-30%) HP:0000347
13 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
14 short neck 56 32 Occasional (29-5%) HP:0000470
15 cataract 56 32 Frequent (79-30%) HP:0000518
16 iris coloboma 56 32 Frequent (79-30%) HP:0000612
17 narrow chest 56 32 Frequent (79-30%) HP:0000774
18 holoprosencephaly 56 32 Occasional (29-5%) HP:0001360
19 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
20 omphalocele 56 32 Frequent (79-30%) HP:0001539
21 polyhydramnios 56 32 Frequent (79-30%) HP:0001561
22 abnormality of the cardiac septa 56 32 Occasional (29-5%) HP:0001671
23 abnormality of the pancreas 56 32 Occasional (29-5%) HP:0001732
24 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
25 meningocele 56 32 Occasional (29-5%) HP:0002435
26 intestinal malrotation 56 32 Occasional (29-5%) HP:0002566
27 abnormality of chromosome segregation 56 32 Very frequent (99-80%) HP:0002916
28 decreased skull ossification 56 32 Very frequent (99-80%) HP:0004331
29 abnormality of the gallbladder 56 32 Occasional (29-5%) HP:0005264
30 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
31 aplasia/hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0007370
32 aplasia/hypoplasia affecting the eye 56 32 Frequent (79-30%) HP:0008056
33 hypoplasia of penis 56 32 Very frequent (99-80%) HP:0008736
34 non-midline cleft lip 56 32 Frequent (79-30%) HP:0100335

Drugs & Therapeutics for Triploidy

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Omega 3 Fatty Acid Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Triploidy 29

Anatomical Context for Triploidy

MalaCards organs/tissues related to Triploidy:

39
Eye, Pancreas, Testes, Liver, Bone, Brain, B Cells

Publications for Triploidy

Articles related to Triploidy:

(show top 50) (show all 313)
id Title Authors Year
1
Triploidy does not decrease contents of eicosapentaenoic and docosahexaenoic acids in filets of pink salmon Oncorhynchus gorbuscha. ( 27596393 )
2017
2
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
3
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
4
First mixoploid infant with full triploidy in blood cells. ( 28008737 )
2016
5
Modifications in the proteome of rainbow trout (Oncorhynchus mykiss) embryo and fry as an effect of triploidy induction. ( 27848040 )
2016
6
Prenatal sonographic features of triploidy at 12-16 weeks. ( 27135789 )
2016
7
Triploidy: Variation of Phenotype. ( 26712875 )
2016
8
Effects of triploidy induction on antioxidant defense status in rainbow trout (Oncorhynchus mykiss) during early development. ( 27324075 )
2016
9
Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive. ( 26566716 )
2016
10
The prevalence of vertebral deformities is increased with higher egg incubation temperatures and triploidy in Atlantic salmon Salmo salar L. ( 25664364 )
2015
11
First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. ( 26611869 )
2015
12
Effects of triploidy incidence on clinical outcomes for IVF-ET cycles in different ovarian stimulation protocols. ( 26220642 )
2015
13
Uncommon Presentation of Triploidy: A Case Report. ( 26557571 )
2015
14
Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants. ( 25504873 )
2015
15
The frequency of spontaneous triploidy in farmed Atlantic salmon produced in Norway during the period 2007-2014. ( 25884873 )
2015
16
Digynic triploidy: utility and challenges of noninvasive prenatal testing. ( 26185638 )
2015
17
Triploidy-Observations in 154 Diandric Cases. ( 26562155 )
2015
18
Transcriptomic Profiling of Gametogenesis in Triploid Pacific Oysters Crassostrea gigas: Towards an Understanding of Partial Sterility Associated with Triploidy. ( 25375782 )
2014
19
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
20
Facial markers in second and third trimester fetuses with trisomies 18 and 13, Triploidy and Turner syndrome. ( 25175793 )
2014
21
Chromosomal manipulation in Senegalese sole (Solea senegalensis Kaup, 1858): induction of triploidy and gynogenesis. ( 25056710 )
2014
22
Vaccination and triploidy increase relative heart weight in farmed Atlantic salmon, Salmo salar L. ( 24422684 )
2014
23
Effects of triploidy on growth and protein degradation in skeletal muscle during recovery from feed deprivation in juvenile rainbow trout (Oncorhynchus mykiss). ( 23707888 )
2013
24
Methylation-specific multiplex ligation-dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy. ( 23881788 )
2013
25
Maternal NLRP7 and C6orf221 variants are not a common risk factor for androgenetic moles, triploidy and recurrent miscarriage. ( 23515668 )
2013
26
Comparative cytogenetics between two species of the family Pseudopimelodidae (Siluriformes): occurrence of natural triploidy and supernumerary chromosomes. ( 24363190 )
2013
27
"Double trouble" or an amplification of the triploidy phenotype? ( 22515548 )
2013
28
The effects of dissolved oxygen and triploidy on critical thermal maximum in brook charr (Salvelinus fontinalis). ( 23911981 )
2013
29
First-trimester sonographic demonstration of digynic triploidy. ( 24411058 )
2013
30
Detection of triploidy at 11-14a88weeks' gestation: a cohort study of 198a88000 pregnant women. ( 23494847 )
2013
31
Second-trimester diagnosis of triploidy: a series of four cases. ( 23943708 )
2013
32
Prenatal Detection of Fetal Triploidy from Cell-Free DNA Testing in Maternal Blood. ( 24135152 )
2013
33
Complete chorioamniotic separation and persistence of a yolk sac associated with triploidy. ( 24165059 )
2013
34
Triploidy alters brain morphology in pre-smolt Atlantic salmon Salmo salar: possible implications for behaviour. ( 23252734 )
2012
35
Posterior brain in fetuses with trisomy 18, trisomy 13 and triploidy at 11 to 13 weeks' gestation. ( 22692599 )
2012
36
Dilated fourth ventricle in fetuses with trisomy 18, trisomy 13 and triploidy at 11-13 weeks' gestation. ( 22846426 )
2012
37
A case of triploidy detected by crosstrimester test. ( 23181174 )
2012
38
Triploidy in the hematology of jundia juveniles (Siluriformes: Heptapteridae). ( 22437395 )
2012
39
The karyotype of Holoaden luederwaldti (Anura, Strabomantidae), with report of natural triploidy. ( 22980505 )
2012
40
Widespread triploidy in Western North American aspen (Populus tremuloides). ( 23119006 )
2012
41
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
42
A case of near-triploidy in myelodysplastic syndrome with del(5q) combined with del(1p) and del(13q). ( 22779072 )
2012
43
Triploidy induction in the Pacific white shrimp Litopenaeus vannamei: an assessment of induction agents and parameters, embryo viability, and early larval survival. ( 22327414 )
2012
44
Karyotypic conservatism in samples of Characidium cf. zebra (Teleostei, Characiformes, Crenuchidae): Physical mapping of ribosomal genes and natural triploidy. ( 21734818 )
2011
45
Triploidy without molar change presenting as severe pre-eclampsia and left ventricular failure at 15 weeks. ( 21973144 )
2011
46
Flow cytometry confirms reticulate evolution and reveals triploidy in Central European Diphasiastrum taxa (Lycopodiaceae, Lycophyta). ( 21835817 )
2011
47
Karyotypic differentiation via 2n reduction and a finding of a case of triploidy in anurans of the genus Engystomops (Anura, Leiuperidae). ( 22350565 )
2011
48
Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. ( 21990236 )
2011
49
Trisomy and triploidy are sources of embryo mortality in the zebra finch. ( 20444723 )
2010
50
Occurrence of natural triploidy in Rhamdia quelen (Siluriformes, Heptapteridae). ( 20882489 )
2010

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:

id 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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