GTN
MCID: GST010
MIFTS: 52

Gestational Trophoblastic Neoplasm (GTN) malady

Genetic diseases, Rare diseases, Reproductive diseases, Cancer diseases categories
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Summaries for Gestational Trophoblastic Neoplasm

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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Gestational Trophoblastic Neoplasm, also known as hydatidiform mole, is related to gestational trophoblastic tumor and ectopic pregnancy, and has symptoms including spontaneous abortions, vaginal/vulvar neoplasm/tumor/carcinoma/cancer and antenatal period/pregnancy anomalies. 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, lung and kidney.

Description from OMIM:47 231090,614293

Aliases & Classifications for Gestational Trophoblastic Neoplasm

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8Disease Ontology, 10DISEASES, 49Orphanet, 43NIH Rare Diseases, 9diseasecard, 22GTR, 47OMIM, 45Novoseek, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
complete hydatidiform mole:
Inheritance: Autosomal recessive,Sporadic; Age of onset: Adulthood; Age of death: Normal
gestational trophoblastic neoplasm:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

gestational trophoblastic neoplasm 8 10 49
hydatidiform mole 8 9 43 22 47 45 62
complete hydatidiform mole 49 62
molar pregnancy 8 43
gestational trophoblastic neoplasia 8
gestational trophoblastic neoplasms 62
complete molar pregnancy 49
hydatid mole 43
hydm 43
gtn 49


External Ids:

Disease Ontology8 DOID:3590
MeSH35 D006828
NCIt40 C3110
ICD9CM27 630
UMLS via Orphanet63 C0678213, C1135868
SNOMED-CT via Orphanet59 237249000, 416441004, 417475006
ICD10 via Orphanet26 O01.0
MESH via Orphanet36 D031901
ICD1025 O01

Related Diseases for Gestational Trophoblastic Neoplasm

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

231090

Clinical features from OMIM:

231090,614293

Symptoms:

49 (show all 9)
  • spontaneous abortions
  • vaginal/vulvar neoplasm/tumor/carcinoma/cancer
  • antenatal period/pregnancy anomalies
  • hepatic/liver neoplasm/tumor/carcinoma/cancer
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • neoplasms/tumors
  • kidney/renal neoplasm/tumor/carcinoma/cancer
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer

Drugs & Therapeutics for Gestational Trophoblastic Neoplasm

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Gestational Trophoblastic Neoplasm:

33
Placenta, Lung, Kidney, Liver, Colon, Uterus

Animal Models for Gestational Trophoblastic Neoplasm or affiliated genes

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Publications for Gestational Trophoblastic Neoplasm

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52PubMed
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Articles related to Gestational Trophoblastic Neoplasm:

(show all 15)
idTitleAuthorsYear
1
Uterine rupture due to invasive metastatic gestational trophoblastic neoplasm. (24106538)
2013
2
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
3
Two rare cases of methotrexate-induced pneumonitis and pleurisy in patients with gestational trophoblastic neoplasms. (18714577)
2008
4
Patients with presenting unusual manifestations with gestational trophoblastic neoplasm: case series and review of literatures. (17940785)
2008
5
Successful treatment of two patients with gestational trophoblastic neoplasm presenting with emergent neurologic symptoms. (16681792)
2006
6
Successful treatment of a patient with gestational trophoblastic neoplasm metastatic to the colon. (16263566)
2005
7
MR appearance of placental site gestational trophoblastic neoplasm. (8846312)
1996
8
Immunocytochemical localization of human chorionic gonadotropin and placental lactogen in gestational trophoblastic neoplasms]. (1337871)
1992
9
Successful treatment of refractory gestational trophoblastic neoplasm with high-dose etoposide and cyclophosphamide. (1661266)
1991
10
Gestational trophoblastic neoplasm of the uterus: MR assessment. (3020607)
1986
11
Metastatic gestational trophoblastic neoplasm. A study of two cases in unusual clinical settings and review of the literature. (6094315)
1984
12
Epidemiology of gestational trophoblastic neoplasm at the Dr. Cipto Mangunkusumo Hospital, Jakarta, Indonesia. (6093460)
1984
13
Monitor of chemotherapy in gestational trophoblastic neoplasm by radioimmunoassay of the beta-subunit of human chorionic gonadotropin. (46716)
1975
14
Radioimmunoassay of the beta-subunit of human chorionic gonadotropin, monitor of chemotherapy in gestational trophoblastic neoplasm. (4377042)
1973
15
Partial placenta accreta in pregnancies following chemotherapy for gestational trophoblastic neoplasms. (4332357)
1972

Variations for Gestational Trophoblastic Neoplasm

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Gestational Trophoblastic Neoplasm:

64
id Symbol AA change Variation ID SNP ID
1NLRP7p.Arg693ProVAR_026711
2NLRP7p.Arg693TrpVAR_026712
3NLRP7p.Asn913SerVAR_026713rs104895503
4NLRP7p.Leu398ArgVAR_059035
5NLRP7p.Pro651SerVAR_059036
6NLRP7p.Arg693GlnVAR_059037
7NLRP7p.Pro716AlaVAR_059038
8NLRP7p.Arg721TrpVAR_059039
9NLRP7p.Cys761TyrVAR_059040

Clinvar genetic disease variations for Gestational Trophoblastic Neoplasm:

1 (show all 12)
id Gene Name 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
11NLRP7NLRP7, 14-BP DUP, NT939duplicationPathogenic
12NLRP7NLRP7, 1-BP DEL, 2030TdeletionPathogenic

Expression for genes affiliated with Gestational Trophoblastic Neoplasm

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gestational Trophoblastic Neoplasm

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Pathways for genes affiliated with Gestational Trophoblastic Neoplasm

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Compounds for genes affiliated with Gestational Trophoblastic Neoplasm

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45Novoseek, 24HMDB
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Compounds related to Gestational Trophoblastic Neoplasm according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oestriol459.0CGB5, PSG1
2acth458.7CGB5, CDKN1C, NR0B1
3zinc45 249.5CGB5, CTSC, NR0B1, PSG1

GO Terms for genes affiliated with Gestational Trophoblastic Neoplasm

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16Gene Ontology
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Biological processes related to Gestational Trophoblastic Neoplasm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1placenta developmentGO:0018909.9CDKN1C, PHLDA2
2female pregnancyGO:0075658.7CSH1, PSG9, PSG1

Products for genes affiliated with Gestational Trophoblastic Neoplasm

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  • Antibodies
  • Proteins
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Sources for Gestational Trophoblastic Neoplasm

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet