MCID: GST010
MIFTS: 42

Gestational Trophoblastic Neoplasm malady

Rare diseases, Reproductive diseases, Cancer diseases categories

Aliases & Classifications for Gestational Trophoblastic Neoplasm

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Sources:
9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 27ICD9CM, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Gestational Trophoblastic Neoplasm, Aliases & Descriptions:

Name: Gestational Trophoblastic Neoplasm 9 11
Hydatidiform Mole 9 10 41 43 47 22 60
Molar Pregnancy 9 41 47
Gestational Trophoblastic Neoplasia 9
 
Gestational Trophoblastic Neoplasms 60
Hydatidiform Mole, Recurrent, 1 60
Hydatid Mole 41
Hydm 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Anatomical: Reproductive diseases


Characteristics (Orphanet epidemiological data):

47
hydatidiform mole:
Inheritance: Autosomal recessive,Not applicable; Age of onset: Adult; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:3590
ICD9CM27 630
MeSH33 D006828
NCIt38 C3110
Orphanet47 99927
MESH via Orphanet34 D006828
ICD10 via Orphanet26 O01.0, O01.1, O01.9
UMLS via Orphanet61 C0020217
ICD1025 O01

Summaries for Gestational Trophoblastic Neoplasm

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NIH Rare Diseases:41 Molar pregnancy is a condition in which the placenta does not develop properly. the symptoms of molar pregnancy, which may include vaginal bleeding, severe morning sickness, stomach cramps, and high blood pressure, typically begin around the 10th week of pregnancy. because the embryo does not form or is malformed in molar pregnancies, and because there is a small risk of developing a cancer called choriocarcinoma, a d&c is usually performed. last updated: 7/15/2013

MalaCards based summary: Gestational Trophoblastic Neoplasm, also known as hydatidiform mole, is related to gestational trophoblastic tumor and ectopic pregnancy, and has symptoms including abnormality of the menstrual cycle, spontaneous abortion and anemia. An important gene associated with Gestational Trophoblastic Neoplasm is NLRP7 (NLR family, pyrin domain containing 7). The compounds oestriol and acth have been mentioned in the context of this disorder. Affiliated tissues include placenta, uterus and liver.

Related Diseases for Gestational Trophoblastic Neoplasm

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Graphical network of the top 20 diseases related to Gestational Trophoblastic Neoplasm:



Diseases related to gestational trophoblastic neoplasm

Symptoms for Gestational Trophoblastic Neoplasm

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Symptoms:

 47 (show all 8)
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • uterine/uterus/fallopian tubes anomalies
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • anaemia
  • antenatal period/pregnancy anomalies
  • spontaneous abortions
  • maternal hypertension/eclampsia/preeclampsia/gravidic toxemia
  • hyperthyroidy

HPO human phenotypes related to Gestational Trophoblastic Neoplasm:

(show all 11)
id Description Frequency HPO Source Accession
1 abnormality of the menstrual cycle hallmark (90%) HP:0000140
2 spontaneous abortion hallmark (90%) HP:0005268
3 anemia hallmark (90%) HP:0001903
4 nausea and vomiting hallmark (90%) HP:0002017
5 toxemia of pregnancy hallmark (90%) HP:0100603
6 neoplasm of the liver typical (50%) HP:0002896
7 neoplasm of the nervous system typical (50%) HP:0004375
8 renal neoplasm typical (50%) HP:0009726
9 neoplasm of the lung typical (50%) HP:0100526
10 vaginal neoplasm typical (50%) HP:0100650
11 hyperthyroidism occasional (7.5%) HP:0000836

Drugs & Therapeutics for Gestational Trophoblastic Neoplasm

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Drug clinical trials:

Search ClinicalTrials for Gestational Trophoblastic Neoplasm

Search NIH Clinical Center for Gestational Trophoblastic Neoplasm

Genetic Tests for Gestational Trophoblastic Neoplasm

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Genetic tests related to Gestational Trophoblastic Neoplasm:

id Genetic test Affiliating Genes
1 Hydatidiform Mole22

Anatomical Context for Gestational Trophoblastic Neoplasm

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MalaCards organs/tissues related to Gestational Trophoblastic Neoplasm:

31
Placenta, Uterus, Liver, Lung, Colon

Animal Models for Gestational Trophoblastic Neoplasm or affiliated genes

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Publications for Gestational Trophoblastic Neoplasm

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Articles related to Gestational Trophoblastic Neoplasm:

(show all 17)
idTitleAuthorsYear
1
A well-circumscribed border with peripheral Doppler signal in sonographic image distinguishes epithelioid trophoblastic tumor from other gestational trophoblastic neoplasms. (25396428)
2014
2
Klippel-Trenaunay syndrome and gestational trophoblastic neoplasm. (25228614)
2014
3
Uterine rupture due to invasive metastatic gestational trophoblastic neoplasm. (24106538)
2013
4
Human chorionic gonadotrophin regression rate as a predictive factor of postmolar gestational trophoblastic neoplasm in high-risk hydatidiform mole: a case-control study. (22055909)
2012
5
Two rare cases of methotrexate-induced pneumonitis and pleurisy in patients with gestational trophoblastic neoplasms. (18714577)
2008
6
Patients with presenting unusual manifestations with gestational trophoblastic neoplasm: case series and review of literatures. (17940785)
2008
7
Successful treatment of two patients with gestational trophoblastic neoplasm presenting with emergent neurologic symptoms. (16681792)
2006
8
Successful treatment of a patient with gestational trophoblastic neoplasm metastatic to the colon. (16263566)
2005
9
MR appearance of placental site gestational trophoblastic neoplasm. (8846312)
1996
10
Immunocytochemical localization of human chorionic gonadotropin and placental lactogen in gestational trophoblastic neoplasms]. (1337871)
1992
11
Successful treatment of refractory gestational trophoblastic neoplasm with high-dose etoposide and cyclophosphamide. (1661266)
1991
12
Gestational trophoblastic neoplasm of the uterus: MR assessment. (3020607)
1986
13
Metastatic gestational trophoblastic neoplasm. A study of two cases in unusual clinical settings and review of the literature. (6094315)
1984
14
Epidemiology of gestational trophoblastic neoplasm at the Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia. (6093460)
1984
15
Monitor of chemotherapy in gestational trophoblastic neoplasm by radioimmunoassay of the beta-subunit of human chorionic gonadotropin. (46716)
1975
16
Radioimmunoassay of the beta-subunit of human chorionic gonadotropin, monitor of chemotherapy in gestational trophoblastic neoplasm. (4377042)
1973
17
Partial placenta accreta in pregnancies following chemotherapy for gestational trophoblastic neoplasms. (4332357)
1972

Variations for Gestational Trophoblastic Neoplasm

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Clinvar genetic disease variations for Gestational Trophoblastic Neoplasm:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1NLRP7NLRP7, IVS3DS, G-A, +1single nucleotide variantPathogenic
2NLRP7NLRP7, IVS7DS, G-A, +1single nucleotide variantPathogenic
3NLRP7NM_001127255.1(NLRP7): c.2077C> T (p.Arg693Trp)single nucleotide variantPathogenicrs104895506GRCh37Chr 19, 55449464: 55449464
4NLRP7NM_001127255.1(NLRP7): c.2078G> C (p.Arg693Pro)single nucleotide variantPathogenicrs104895502GRCh37Chr 19, 55449463: 55449463
5NLRP7NM_001127255.1(NLRP7): c.2738A> G (p.Asn913Ser)single nucleotide variantPathogenicrs104895503GRCh37Chr 19, 55441939: 55441939
6NLRP7NM_001127255.1(NLRP7): c.1294C> T (p.Arg432Ter)single nucleotide variantPathogenicrs104895530GRCh37Chr 19, 55450893: 55450893
7NLRP7NLRP7, 1-BP INS, 337GinsertionPathogenic
8NLRP7NM_001127255.1(NLRP7): c.2078G> A (p.Arg693Gln)single nucleotide variantPathogenicrs104895502GRCh37Chr 19, 55449463: 55449463
9NLRP7NM_001127255.1(NLRP7): c.1193T> G (p.Leu398Arg)single nucleotide variantPathogenicrs104895548GRCh37Chr 19, 55450994: 55450994
10NLRP7NM_001127255.1(NLRP7): c.1951C> T (p.Pro651Ser)single nucleotide variantPathogenicrs104895549GRCh37Chr 19, 55449590: 55449590
11KHDC3LKDHC3L, 3G-Tsingle nucleotide variantPathogenic
12KHDC3LKDHC3L, 4-BP DEL, 322GACTdeletionPathogenic
13KHDC3LKDHC3L, 1A-Gsingle nucleotide variantPathogenic
14NLRP7NLRP7, 14-BP DUP, NT939duplicationPathogenic
15NLRP7NLRP7, 1-BP DEL, 2030TdeletionPathogenic

Expression for genes affiliated with Gestational Trophoblastic Neoplasm

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Search GEO for disease gene expression data for Gestational Trophoblastic Neoplasm.

Pathways for genes affiliated with Gestational Trophoblastic Neoplasm

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Compounds for genes affiliated with Gestational Trophoblastic Neoplasm

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Sources:
43Novoseek, 24HMDB
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Compounds related to Gestational Trophoblastic Neoplasm according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1oestriol439.0CGB5, PSG1
2acth438.7CGB5, CDKN1C, NR0B1
3zinc43 249.5CGB5, CTSC, NR0B1, PSG1

GO Terms for genes affiliated with Gestational Trophoblastic Neoplasm

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Biological processes related to Gestational Trophoblastic Neoplasm according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1placenta developmentGO:00018909.9CDKN1C, PHLDA2
2female pregnancyGO:00075658.7CSH1, PSG9, PSG1

Products for genes affiliated with Gestational Trophoblastic Neoplasm

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Sources for Gestational Trophoblastic Neoplasm

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet