HYDM
MCID: GST010
MIFTS: 52

Gestational Trophoblastic Neoplasm (HYDM) malady

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

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NIH Rare Diseases:42 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 epithelioid trophoblastic tumor, and has symptoms including nausea/vomiting/regurgitation/merycism/hyperemesis, uterine/uterus/fallopian tubes anomalies and metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea. 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 colon.

Descriptions from OMIM:46 231090,614293

Aliases & Classifications for Gestational Trophoblastic Neoplasm

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Sources:
8Disease Ontology, 10DISEASES, 42NIH Rare Diseases, 48Orphanet, 9diseasecard, 22GTR, 46OMIM, 44Novoseek, 62UMLS, 57SNOMED-CT, 27ICD9CM, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
See all sources

Gestational Trophoblastic Neoplasm, Aliases & Descriptions:

Name: Gestational Trophoblastic Neoplasm 8 10
Hydatidiform Mole 8 9 42 22 46 44 48 62
Molar Pregnancy 8 42 48
Complete Hydatidiform Mole 48 62
Gestational Trophoblastic Neoplasia 8
 
Gestational Trophoblastic Neoplasms 62
Complete Molar Pregnancy 48
Hydatid Mole 42
Hydm 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
complete hydatidiform mole:
Inheritance: Autosomal recessive,Sporadic; Age of onset: Adulthood; Age of death: Normal
hydatidiform mole:
Inheritance: Autosomal recessive,Sporadic; Age of onset: Adulthood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:3590
ICD9CM27 630
NCIt39 C3110
MeSH34 D006828
ICD10 via Orphanet26 O01.0, O01.1, O01.9
UMLS via Orphanet63 C0678213, C0020217
MESH via Orphanet35 D006828
ICD1025 O01

Related Diseases for Gestational Trophoblastic Neoplasm

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Diseases related to Gestational Trophoblastic Neoplasm via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1gestational trophoblastic tumor31.3CGB5
2epithelioid trophoblastic tumor30.8CSH1, CSH2
3ectopic pregnancy30.7PSG1, CGB5
4choriocarcinoma29.5CSH1, STARD7, PSG9, PSG1, CSH2, CDKN1C
5trophoblastic neoplasm10.9
6hydatidiform mole, recurrent10.8
7invasive mole10.8
8triploidy10.6
9partial hydatidiform mole10.5
10herpes gestationis10.5
11metaphyseal dysplasia10.5NR0B1
12placental site trophoblastic tumor10.4
13silver-russell syndrome10.4CDKN1C
14infertility10.4
15pemphigoid gestationis10.4
16dysgerminoma10.4
17ovarian hyperstimulation syndrome10.3
18central nervous system disease10.3
19nervous system disease10.3
20prostatitis10.3
21germ cell tumors10.3
22male germ cell tumor10.3
23wilms tumor10.3CDKN1C, NR0B1
24placental insufficiency10.3CSH2, CSH1
25klippel-trenaunay syndrome10.3
26placenta accreta10.3
27pleurisy10.3
28beckwith-wiedemann syndrome10.2PHLDA2, CDKN1C
29eclampsia10.2
30peripartum cardiomyopathy10.2
31gestational choriocarcinoma10.2
32pre-eclampsia10.2
33adrenocortical carcinoma10.2CDKN1C, NR0B1
34anencephaly10.2
35glomerulonephritis10.2
36hypertension10.2
37membranoproliferative glomerulonephritis10.2
38acromegaly10.2
39cortical blindness10.2
40ulceration of vulva10.2
41parovarian cyst10.2
42hydronephrosis10.2
43adenoma10.2
44arthropathy10.2
45breast cancer10.2
46cervicitis10.2
47endometriosis10.2
48gonadal dysgenesis10.2
49hermaphroditism10.2
50ovarian cyst10.2

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 by clinical synopsis from OMIM:

231090

Clinical features from OMIM:

231090,614293

Symptoms:

48 (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 15)
id Description Frequency HPO Source Accession
1 abnormality of the menstrual cycle hallmark (90%) HP:0000140
2 spontaneous abortion hallmark (90%) HP:0005268
3 abnormality of the menstrual cycle hallmark (90%) HP:0000140
4 anemia hallmark (90%) HP:0001903
5 nausea and vomiting hallmark (90%) HP:0002017
6 spontaneous abortion hallmark (90%) HP:0005268
7 toxemia of pregnancy hallmark (90%) HP:0100603
8 neoplasm of the liver typical (50%) HP:0002896
9 neoplasm of the nervous system typical (50%) HP:0004375
10 renal neoplasm typical (50%) HP:0009726
11 neoplasm of the lung typical (50%) HP:0100526
12 vaginal neoplasm typical (50%) HP:0100650
13 hyperthyroidism occasional (7.5%) HP:0000836
14 autosomal recessive inheritance HP:0000007
15 abnormality of the genitourinary system HP:0000119

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:

32
Placenta, Uterus, 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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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:

6 (show all 15)
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
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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Expression patterns in normal tissues for genes affiliated with Gestational Trophoblastic Neoplasm

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:
44Novoseek, 24HMDB
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Compounds related to Gestational Trophoblastic Neoplasm according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1oestriol449.0CGB5, PSG1
2acth448.7CGB5, CDKN1C, NR0B1
3zinc44 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/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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Sources for Gestational Trophoblastic Neoplasm

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet