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HYDM1
MCID: HYD046
MIFTS: 57

Hydatidiform Mole, Recurrent, 1 (HYDM1)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hydatidiform Mole, Recurrent, 1

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MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 1:

Name: Hydatidiform Mole, Recurrent, 1 58 76 74
Hydatidiform Mole 58 77 54 60 76 30 13 56 6 17 74
Gestational Trophoblastic Disease 58 77 76 56 74
Complete Hydatidiform Mole 60 76 74
Hydm 58 54 76
Molar Pregnancy 54 60
Hydm1 58 76
Chm 58 76
Mole, Hydatidiform, Recurrent, Type 1 41
Gestational Trophoblastic Neoplasms 74
Hydatidiform Mole, Complete; Chm 58
Hydatidiform Mole, Recurrent, 2 74
Hydatidiform Mole, Complete 58
Complete Molar Pregnancy 60
Hydatidiform Mole; Hydm 58
Hydatid Mole 54

Characteristics:

Orphanet epidemiological data:

60
complete hydatidiform mole
Inheritance: Autosomal recessive,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;
hydatidiform mole
Inheritance: Autosomal recessive,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hydatidiform mole, recurrent, 1:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare gynaecological and obstetric diseases


External Ids:

OMIM 58 231090
MeSH 45 D006828
ICD10 34 O01
MESH via Orphanet 46 D006828
ICD10 via Orphanet 35 O01.0 O01.1 O01.9
UMLS via Orphanet 75 C0020217 C0678213
Sources

Summaries for Hydatidiform Mole, Recurrent, 1

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OMIM : 58 A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013). (231090)

MalaCards based summary : Hydatidiform Mole, Recurrent, 1, also known as hydatidiform mole, is related to partial hydatidiform mole and placental site trophoblastic tumor. An important gene associated with Hydatidiform Mole, Recurrent, 1 is NLRP7 (NLR Family Pyrin Domain Containing 7), and among its related pathways/superpathways are Peptide hormone metabolism and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Nitroglycerin and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include placenta, uterus and lung, and related phenotypes are nausea and vomiting and anemia

NIH Rare Diseases : 54 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.

UniProtKB/Swiss-Prot : 76 Hydatidiform mole, recurrent, 1: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi.

Wikipedia : 77 Gestational trophoblastic disease (GTD) is a term used for a group of pregnancy-related tumours. These... more...

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Related Diseases for Hydatidiform Mole, Recurrent, 1

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Diseases in the Recurrent Hydatidiform Mole family:

Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole, Recurrent, 2
Hydatidiform Mole, Recurrent, 3 Hydatidiform Mole, Recurrent, 4

Diseases related to Hydatidiform Mole, Recurrent, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 partial hydatidiform mole 34.8 KHDC3L NLRP7
2 placental site trophoblastic tumor 32.1 CGB3 CGB5 INHA
3 gestational trophoblastic neoplasm 31.4 CDKN1C H19 KHDC3L NLRP7 PHLDA2
4 choriocarcinoma 31.1 CGA CGB3 CGB5 H19
5 triploidy 30.9 CGA KHDC3L NLRP7
6 ectopic pregnancy 30.7 CGA CGB3 CGB5
7 chromosomal triplication 30.7 CGA CGB3
8 epithelioid trophoblastic tumor 30.3 CGB3 INHA
9 mixed germ cell tumor 29.9 CGA CGB3
10 testicular cancer 29.7 CGA CGB3 CGB5
11 teratoma 29.3 CGA CGB3
12 trophoblastic neoplasm 29.2 CDKN1C CGA H19 INHA KHDC3L NLRP7
13 recurrent hydatidiform mole 12.9
14 invasive mole 12.2
15 gestational trophoblastic tumor 12.0
16 pulmonary arterio-veinous fistula 11.2
17 hydatidiform mole, recurrent, 2 11.1
18 hydatidiform mole, recurrent, 3 11.1
19 hydatidiform mole, recurrent, 4 11.1
20 hyperthyroidism, familial gestational 11.1
21 eclampsia 10.8
22 hyperthyroidism 10.7
23 pre-eclampsia 10.6
24 placenta praevia 10.5
25 severe pre-eclampsia 10.5
26 pemphigoid gestationis 10.5
27 gestational choriocarcinoma 10.5
28 choroideremia 10.4
29 graves disease 1 10.3
30 infertility 10.3
31 preeclampsia/eclampsia 1 10.3
32 anencephaly 10.3
33 ovarian hyperstimulation syndrome 10.3
34 joint disorders 10.3
35 leukemia 10.3
36 pemphigus gestationis 10.3
37 thrombosis 10.3
38 endometritis 10.3
39 sarcoma 10.3
40 endometriosis of ovary 10.3
41 nephrotic syndrome 10.3
42 ulceration of vulva 10.3
43 acromegaly 10.3
44 endometriosis 10.3
45 pulmonary tuberculosis 10.3
46 arthropathy 10.3
47 dysgerminoma 10.3
48 placenta accreta 10.3
49 ovarian cyst 10.3
50 adenoma 10.3

Graphical network of the top 20 diseases related to Hydatidiform Mole, Recurrent, 1:



Diseases related to Hydatidiform Mole, Recurrent, 1
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Symptoms & Phenotypes for Hydatidiform Mole, Recurrent, 1

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Human phenotypes related to Hydatidiform Mole, Recurrent, 1:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002017
2 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
3 preeclampsia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100602
4 spontaneous abortion 60 33 hallmark (90%) Very frequent (99-80%) HP:0005268
5 menometrorrhagia 60 33 hallmark (90%) Very frequent (99-80%) HP:0400008
6 enlarged uterus 60 33 hallmark (90%) Very frequent (99-80%) HP:0100878
7 hyperthyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000836
8 abnormality of the genitourinary system 33 HP:0000119
9 hydatidiform mole 33 HP:0032192

Symptoms via clinical synopsis from OMIM:

58
Prenatal Manifestations Placenta And Umbilical Cord:
gestational trophoblastic disease
hydatidiform mole

Clinical features from OMIM:

231090

MGI Mouse Phenotypes related to Hydatidiform Mole, Recurrent, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.1 C11orf80 CGA INHA KHDC3L MEI1 PCNA
Sources

Drugs & Therapeutics for Hydatidiform Mole, Recurrent, 1

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Drugs for Hydatidiform Mole, Recurrent, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitroglycerin Approved, Investigational Phase 4,Phase 2,Not Applicable 55-63-0 4510
2 Vaccines Phase 4,Phase 3
3 Immunologic Factors Phase 4,Phase 3,Phase 2
4
Methotrexate Approved Phase 3,Phase 2,Not Applicable 1959-05-2, 59-05-2 126941
5
leucovorin Approved Phase 3,Phase 2,Not Applicable 58-05-9 143 6006
6
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
7
Amifostine Approved, Investigational Phase 3 20537-88-6 2141
8
Levoleucovorin Approved, Investigational Phase 3,Phase 2 68538-85-2
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Not Applicable 59-30-3 6037
10
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
11 Liver Extracts Phase 3
12 Vitamins Phase 3,Phase 2,Not Applicable
13 Dermatologic Agents Phase 3,Phase 2
14 Vitamin B Complex Phase 3,Phase 2,Not Applicable
15 Vitamin B9 Phase 3,Phase 2,Not Applicable
16 Trace Elements Phase 3,Phase 2,Not Applicable
17 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
18 Antimetabolites, Antineoplastic Phase 3,Phase 2
19 Hematinics Phase 3,Phase 2,Not Applicable
20 Antirheumatic Agents Phase 3,Phase 2,Not Applicable
21 Antimetabolites Phase 3,Phase 2
22 Micronutrients Phase 3,Phase 2,Not Applicable
23 Folate Phase 3,Phase 2,Not Applicable
24 Immunosuppressive Agents Phase 3,Phase 2
25 Nutrients Phase 3,Phase 2,Not Applicable
26 Folic Acid Antagonists Phase 3,Phase 2
27 Anti-Bacterial Agents Phase 3
28 Anti-Infective Agents Phase 3
29 Antibiotics, Antitubercular Phase 3
30 Radiation-Protective Agents Phase 3
31 Protective Agents Phase 3,Phase 2
32 Bone Density Conservation Agents Phase 3,Phase 2
33 Antidotes Phase 3,Phase 2
34 Hormones Phase 3
35 Calcium, Dietary Phase 3
36
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 60843 446556
37
Dihydrotachysterol Approved Phase 2 67-96-9 5311071 5281010
38
Ipilimumab Approved Phase 2 477202-00-9
39
nivolumab Approved Phase 2 946414-94-4
40 Antibodies, Monoclonal Phase 2
41 Immunoglobulins Phase 2
42 Antibodies Phase 2
43 Antineoplastic Agents, Immunological Phase 2
44
Aspirin Approved, Vet_approved Not Applicable 50-78-2 2244
45
Misoprostol Approved Not Applicable 59122-46-2 5282381
46 Chorionic Gonadotropin ,Not Applicable
47 Antipyretics Not Applicable
48 Platelet Aggregation Inhibitors Not Applicable
49 Analgesics Not Applicable
50 Anti-Inflammatory Agents Not Applicable

Interventional clinical trials:

(show all 26)
# Name Status NCT ID Phase Drugs
1 Effectiveness, Safety and Immunogenicity of GSK Biologicals' HPV Vaccine GSK580299 (Cervarix TM) Administered in Healthy Adolescents Completed NCT00534638 Phase 4
2 A Comparison of Single Versus Double Evacuation for Treatment of Hydatidiform Mole Recruiting NCT01630954 Phase 4
3 RCT on the Efficacy of Methotrexate for the Prevention of GTD Completed NCT01984099 Phase 3 Methotrexate;Vitamin B Complex
4 Methotrexate Compared With Dactinomycin in Treating Patients With Gestational Trophoblastic Neoplasia Completed NCT00003702 Phase 3 Methotrexate
5 Amifostine in Treating Peripheral Neuropathy in Patients Who Have Received Chemotherapy for Cancer Completed NCT00058071 Phase 3 amifostine trihydrate
6 The Safety Evaluation of the GSK-580299 Vaccine in Women From the Control Group in the Primary NCT00294047 Study Completed NCT01249365 Phase 3
7 Efficacy, Immunogenicity and Safety of GSK Biologicals' HPV GSK 580299 Vaccine in Healthy Chinese Female Subjects Completed NCT00779766 Phase 3
8 Human Papilloma Virus (HPV) Vaccine Efficacy Trial Against Cervical Pre-cancer in Young Adults With GlaxoSmithKline (GSK) Biologicals HPV-16/18 Completed NCT00122681 Phase 3
9 Dactinomycin or Methotrexate in Treating Patients With Low-Risk Gestational Trophoblastic Neoplasia Active, not recruiting NCT01535053 Phase 3 Leucovorin Calcium;Methotrexate
10 Methotrexate Single-dose Treatment and Methotrexate/Actinomycin-D Single-dose Treatment in Low-Risk Gestational Trophoblastic Neoplasia Active, not recruiting NCT01823315 Phase 3 MTX 1;MTX 2
11 Rescue Regimen and High Dose Methotrexate in Management of Presistent Gestational Trophoplastic Neoplasia Not yet recruiting NCT03280979 Phase 2, Phase 3 rescue regimen;high dose methotrxate
12 Second Curettage in Treating Patients With Persistent Non-metastatic Gestational Trophoblastic Tumors Completed NCT00521118 Phase 2
13 A Trial for Patients With Gestational Trophoblastic Disease Completed NCT00190918 Phase 2 Pemetrexed
14 Avelumab in Chemo-resistant Gestational Trophoblastic Neoplasias Recruiting NCT03135769 Phase 2 Avelumab administration at 10mg/kg
15 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
16 Pemetrexed Disodium in Treating Patients With Recurrent or Persistent Low-Risk Gestational Trophoblastic Tumor After a Molar Pregnancy Terminated NCT00096187 Phase 2 pemetrexed disodium
17 Conformation of Beta Human Chorionic Gonadotropin During Chemotherapy for Choriocarcinoma Unknown status NCT00294177
18 The Effects of Aspirin in Gestation and Reproduction Completed NCT00467363 Not Applicable acetylsalicylic-acid (aspirin)
19 Study of the Genetic and Epigenetic Causes of Recurrent Hydatidiform Moles Recruiting NCT01008501
20 Study of Different Therapeutic Strategies in Hydatidiform Mole With Lung Nodule Recruiting NCT03785574 Not Applicable chemotherapy
21 The French National Reference Centre of GTD Recruiting NCT02892877
22 Yervoy Pregnancy Surveillance Study Recruiting NCT02854488 Yervoy
23 BioThrax® (Anthrax) Vaccine in Pregnancy Registry Active, not recruiting NCT01653392
24 Chemoresistance of Trophoblastic Tumors Not yet recruiting NCT03488901
25 Fertility and Obstetric Outcomes After Medical Management Versus Surgical Treatment for First-trimester Miscarriage First-trimester Miscarriage Not yet recruiting NCT03570307 Not Applicable
26 Flucelvax Pregnancy Registry Withdrawn NCT02258178

Search NIH Clinical Center for Hydatidiform Mole, Recurrent, 1

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Genetic Tests for Hydatidiform Mole, Recurrent, 1

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Genetic tests related to Hydatidiform Mole, Recurrent, 1:

# Genetic test Affiliating Genes
1 Hydatidiform Mole 30 NLRP7
Sources

Anatomical Context for Hydatidiform Mole, Recurrent, 1

About this section

MalaCards organs/tissues related to Hydatidiform Mole, Recurrent, 1:

42
Placenta, Uterus, Lung, Thyroid, Testes, Liver, Bone
Sources

Publications for Hydatidiform Mole, Recurrent, 1

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Articles related to Hydatidiform Mole, Recurrent, 1:

(show top 50) (show all 1270)
# Title Authors Year
1
Genetically Related Choriocarcinoma Developing 5 Yr After a Complete Hydatidiform Mole and Simulating a Cornual Ectopic Pregnancy. ( 31033803 )
2019
2
Hysteroscopic Management of Partial Hydatidiform Mole: A Novel Approach to an Old Disease. ( 29631009 )
2019
3
A Novel Mutation in NLRP7 Related to Recurrent Hydatidiform Mole and Reproductive Failure. ( 31037924 )
2019
4
Correction to: ''Bunch of grapes'' in complete hydatidiform mole. ( 30284604 )
2019
5
Do we need post-pregnancy screening with human chorionic gonadotrophin after previous hydatidiform mole to identify patients with recurrent gestational trophoblastic disease? ( 30684876 )
2019
6
The management of hydatidiform mole with lung nodule: a retrospective analysis in 53 patients. ( 30740949 )
2019
7
The potential value of red blood cell distribution width in patients with invasive hydatidiform mole. ( 30883924 )
2019
8
miR-196b inhibits cell migration and invasion through targeting MAP3K1 in hydatidiform mole. ( 30889489 )
2019
9
Tubal hydatidiform mole treated with salpingotomy: A case report. ( 30997056 )
2019
10
Interstitial pregnancy mimicking an invasive hydatidiform mole. ( 31079718 )
2019
11
Choriocarcinoma with multiple lung metastases from complete hydatidiform mole with coexistent fetus during pregnancy. ( 29845692 )
2018
12
HCG-induced hyperthyroidism in a 51-year-old patient with hydatidiform mole. ( 30562809 )
2018
13
Clinical and genetic-epignetic aspects of recurrent hydatidiform mole: A review of literature. ( 29458875 )
2018
14
DNA Genotyping of Nonmolar Donor Egg Pregnancies With Abnormal Villous Morphology: Allele Zygosity Patterns Prevent Misinterpretation as Complete Hydatidiform Mole. ( 28463912 )
2018
15
New insights in the pathophysiology of complete hydatidiform mole. ( 29405964 )
2018
16
A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin. ( 29436108 )
2018
17
Temporal trends in incidence and outcome of hydatidiform mole: a retrospective cohort study. ( 29451409 )
2018
18
Does a human chorionic gonadotropin level of over 20,000 IU/L four weeks after uterine evacuation for complete hydatidiform mole constitute an indication for chemotherapy for gestational trophoblastic neoplasia? ( 29477553 )
2018
19
A 34-Week Size Uterus with a Complete Hydatidiform Mole: Hook Effect and Severe Anemia with No Vaginal Bleeding. ( 29670785 )
2018
20
Recurrent complete hydatidiform mole: where we are, is there a safe gestational horizon? Opinion and mini-review. ( 29737470 )
2018
21
Accuracy of p57KIP2 compared with genotyping to diagnose complete hydatidiform mole: a systematic review and meta-analysis. ( 29782064 )
2018
22
Prevalence and Factors Associated with Hydatidiform Mole among Patients Undergoing Uterine Evacuation at Mbarara Regional Referral Hospital. ( 29805452 )
2018
23
Invasive hydatidiform mole in the cervix. ( 29875909 )
2018
24
p57KIP2 immunostaining for diagnosis of hydatidiform mole. ( 29904999 )
2018
25
Multiple metastatic gestational trophoblastic disease after a twin pregnancy with complete hydatidiform mole and coexisting fetus, following assisted reproductive technology: Case report and literature review. ( 30122584 )
2018
26
Hydatidiform mole: validity of the registration in the Danish National Patient Registry, the Danish Cancer Registry, and the Danish Pathology Registry 1999-2009. ( 30271218 )
2018
27
Ultrasound and MRI Findings of Twin Pregnancies with Complete Hydatidiform Mole and Coexisting Normal Fetus: Two Case Reports. ( 30282891 )
2018
28
miR-21 Is Overexpressed in Hydatidiform Mole Tissues and Promotes Proliferation, Migration, and Invasion in Choriocarcinoma Cells. ( 27922982 )
2017
29
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride. ( 27898272 )
2017
30
Prenatal Diagnosis of Twin Pregnancies with Complete Hydatidiform Mole and Coexistent Normal Fetus: A Series of 13 Cases. ( 27522447 )
2017
31
"Bunch of grapes" in complete hydatidiform mole. ( 27933479 )
2017
32
Role of Surgery in the Management of Hydatidiform Mole in Elderly Patients: A Single-Center Clinical Experience. ( 28129241 )
2017
33
HDLive Silhouette Inversion Mode in Diagnosis of Complete Hydatidiform Mole. ( 28133778 )
2017
34
Complete hydatidiform mole with co-existing fetus: Predictors of live birth. ( 28301807 )
2017
35
F10, a novel hydatidiform mole-associated gene, inhibits the paclitaxel sensitivity of A549 lung cancer cells by downregulating BAX and caspase-3. ( 28454434 )
2017
36
Uterine artery Doppler flow velocimetry parameters for predicting gestational trophoblastic neoplasia after complete hydatidiform mole, a prospective cohort study. ( 28591340 )
2017
37
Establishment and characterization of cell lines derived from complete hydatidiform mole. ( 28713902 )
2017
38
Molecular Diagnosis of Placental Hydatidiform Mole: Innovation and Outcomes. ( 28757408 )
2017
39
18F-FDG PET/CT Demonstrating Chorioadenoma Destruens After Evacuation of Complete Hydatidiform Mole. ( 28759528 )
2017
40
Heterotopic Pregnancy Including Intrauterine Normal Gestation and Tubal Complete Hydatidiform Mole: A Case Report and Review of the Literature. ( 28800576 )
2017
41
Prophylactic chemotherapy for hydatidiform mole to prevent gestational trophoblastic neoplasia. ( 28892119 )
2017
42
An unexpected invasive hydatidiform mole in a rudimentary uterine horn: A case report. ( 28927039 )
2017
43
Challenges in the Routine Praxis Diagnosis of Hydatidiform Mole: a Tertiary Health Center Experience. ( 28974845 )
2017
44
Risk Factors for Hydatidiform Mole: Is Husband’s Job a Major Risk Factor? ( 29072060 )
2017
45
Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women. ( 29088863 )
2017
46
Comparison of different therapeutic strategies for complete hydatidiform mole in women at least 40 years old: a retrospective cohort study. ( 29121880 )
2017
47
A twin pregnancy with a hydatidiform mole and a coexisting live fetus: prenatal diagnosis, treatment, and follow-up. ( 29375907 )
2017
48
May supplementation of coenzyme Q10 help prevent development of hydatidiform mole?. ( 29949281 )
2017
49
Unusual twin pregnancy: complete hydatidiform mole with coexistent normal fetus. ( 29949305 )
2017
50
Solitary lung metastasis from gestational choriocarcinoma resected six years after hydatidiform mole: A case report. ( 27744215 )
2016
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Variations for Hydatidiform Mole, Recurrent, 1

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UniProtKB/Swiss-Prot genetic disease variations for Hydatidiform Mole, Recurrent, 1:

76
# Symbol AA change Variation ID SNP ID
1 NLRP7 p.Arg693Pro VAR_026711 rs104895502
2 NLRP7 p.Arg693Trp VAR_026712 rs104895506
3 NLRP7 p.Asn913Ser VAR_026713 rs104895503
4 NLRP7 p.Leu398Arg VAR_059035 rs104895548
5 NLRP7 p.Pro651Ser VAR_059036 rs104895549
6 NLRP7 p.Arg693Gln VAR_059037 rs104895502
7 NLRP7 p.Pro716Ala VAR_059038 rs104895550
8 NLRP7 p.Arg721Trp VAR_059039 rs104895525
9 NLRP7 p.Cys761Tyr VAR_059040 rs104895552

ClinVar genetic disease variations for Hydatidiform Mole, Recurrent, 1:

6 (show top 50) (show all 310)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP7 NM_001127255.1(NLRP7): c.352+1G> A single nucleotide variant Pathogenic rs104895504 GRCh37 Chromosome 19, 55452298: 55452298
2 NLRP7 NM_001127255.1(NLRP7): c.352+1G> A single nucleotide variant Pathogenic rs104895504 GRCh38 Chromosome 19, 54940930: 54940930
3 NLRP7 NM_001127255.1(NLRP7): c.2471+1G> A single nucleotide variant Pathogenic rs104895505 GRCh37 Chromosome 19, 55445856: 55445856
4 NLRP7 NM_001127255.1(NLRP7): c.2471+1G> A single nucleotide variant Pathogenic rs104895505 GRCh38 Chromosome 19, 54934488: 54934488
5 NLRP7 NM_001127255.1(NLRP7): c.2077C> T (p.Arg693Trp) single nucleotide variant Pathogenic rs104895506 GRCh37 Chromosome 19, 55449464: 55449464
6 NLRP7 NM_001127255.1(NLRP7): c.2077C> T (p.Arg693Trp) single nucleotide variant Pathogenic rs104895506 GRCh38 Chromosome 19, 54938096: 54938096
7 NLRP7 NM_001127255.1(NLRP7): c.2078G> C (p.Arg693Pro) single nucleotide variant Pathogenic rs104895502 GRCh37 Chromosome 19, 55449463: 55449463
8 NLRP7 NM_001127255.1(NLRP7): c.2078G> C (p.Arg693Pro) single nucleotide variant Pathogenic rs104895502 GRCh38 Chromosome 19, 54938095: 54938095
9 NLRP7 NM_001127255.1(NLRP7): c.2738A> G (p.Asn913Ser) single nucleotide variant Pathogenic rs104895503 GRCh37 Chromosome 19, 55441939: 55441939
10 NLRP7 NM_001127255.1(NLRP7): c.2738A> G (p.Asn913Ser) single nucleotide variant Pathogenic rs104895503 GRCh38 Chromosome 19, 54930571: 54930571
11 NLRP7 NM_001127255.1(NLRP7): c.1294C> T (p.Arg432Ter) single nucleotide variant Pathogenic rs104895530 GRCh37 Chromosome 19, 55450893: 55450893
12 NLRP7 NM_001127255.1(NLRP7): c.1294C> T (p.Arg432Ter) single nucleotide variant Pathogenic rs104895530 GRCh38 Chromosome 19, 54939525: 54939525
13 NLRP7 NLRP7, 1-BP INS, 337G insertion Pathogenic
14 NLRP7 NM_001127255.1(NLRP7): c.2078G> A (p.Arg693Gln) single nucleotide variant Pathogenic rs104895502 GRCh37 Chromosome 19, 55449463: 55449463
15 NLRP7 NM_001127255.1(NLRP7): c.2078G> A (p.Arg693Gln) single nucleotide variant Pathogenic rs104895502 GRCh38 Chromosome 19, 54938095: 54938095
16 NLRP7 NM_001127255.1(NLRP7): c.1193T> G (p.Leu398Arg) single nucleotide variant Pathogenic rs104895548 GRCh37 Chromosome 19, 55450994: 55450994
17 NLRP7 NM_001127255.1(NLRP7): c.1193T> G (p.Leu398Arg) single nucleotide variant Pathogenic rs104895548 GRCh38 Chromosome 19, 54939626: 54939626
18 NLRP7 NM_001127255.1(NLRP7): c.1951C> T (p.Pro651Ser) single nucleotide variant Pathogenic rs104895549 GRCh37 Chromosome 19, 55449590: 55449590
19 NLRP7 NM_001127255.1(NLRP7): c.1951C> T (p.Pro651Ser) single nucleotide variant Pathogenic rs104895549 GRCh38 Chromosome 19, 54938222: 54938222
20 NLRP7 NLRP7, 14-BP DUP, NT939 duplication Pathogenic
21 NLRP7 NM_001127255.1(NLRP7): c.2030delT (p.Leu677Profs) deletion Pathogenic rs104895554 GRCh37 Chromosome 19, 55449511: 55449511
22 NLRP7 NM_001127255.1(NLRP7): c.2030delT (p.Leu677Profs) deletion Pathogenic rs104895554 GRCh38 Chromosome 19, 54938143: 54938143
23 NLRP7 NM_001127255.1(NLRP7): c.-39-387_2129+265dup duplication not provided GRCh38 Chromosome 19, 54937779: 54942137
24 NLRP7 NM_001127255.1(NLRP7): c.-39-427T> C single nucleotide variant not provided rs104895519 GRCh37 Chromosome 19, 55453545: 55453545
25 NLRP7 NM_001127255.1(NLRP7): c.-39-387_2129+265dup duplication not provided GRCh37 Chromosome 19, 55449147: 55453505
26 NLRP7 NM_001127255.1(NLRP7): c.-39-427T> C single nucleotide variant not provided rs104895519 GRCh38 Chromosome 19, 54942177: 54942177
27 NLRP7 NM_001127255.1(NLRP7): c.1137G> C (p.Lys379Asn) single nucleotide variant not provided rs10418277 GRCh37 Chromosome 19, 55451050: 55451050
28 NLRP7 NM_001127255.1(NLRP7): c.1137G> C (p.Lys379Asn) single nucleotide variant not provided rs10418277 GRCh38 Chromosome 19, 54939682: 54939682
29 NLRP7 NM_001127255.1(NLRP7): c.1138G> C (p.Gly380Arg) single nucleotide variant not provided rs104895557 GRCh37 Chromosome 19, 55451049: 55451049
30 NLRP7 NM_001127255.1(NLRP7): c.1138G> C (p.Gly380Arg) single nucleotide variant not provided rs104895557 GRCh38 Chromosome 19, 54939681: 54939681
31 NLRP7 NM_001127255.1(NLRP7): c.1196G> A (p.Cys399Tyr) single nucleotide variant not provided rs104895510 GRCh37 Chromosome 19, 55450991: 55450991
32 NLRP7 NM_001127255.1(NLRP7): c.1196G> A (p.Cys399Tyr) single nucleotide variant not provided rs104895510 GRCh38 Chromosome 19, 54939623: 54939623
33 NLRP7 NM_001127255.1(NLRP7): c.1302C> T (p.Asp434=) single nucleotide variant Uncertain significance rs104895545 GRCh37 Chromosome 19, 55450885: 55450885
34 NLRP7 NM_001127255.1(NLRP7): c.1302C> T (p.Asp434=) single nucleotide variant Uncertain significance rs104895545 GRCh38 Chromosome 19, 54939517: 54939517
35 NLRP7 NM_001127255.1(NLRP7): c.1456dup (p.Glu486Glyfs) duplication not provided rs104895559 GRCh37 Chromosome 19, 55450731: 55450731
36 NLRP7 NM_001127255.1(NLRP7): c.1456dup (p.Glu486Glyfs) duplication not provided rs104895559 GRCh38 Chromosome 19, 54939363: 54939363
37 NLRP7 NM_001127255.1(NLRP7): c.1708G> T (p.Glu570Ter) single nucleotide variant not provided rs104895544 GRCh37 Chromosome 19, 55450479: 55450479
38 NLRP7 NM_001127255.1(NLRP7): c.1708G> T (p.Glu570Ter) single nucleotide variant not provided rs104895544 GRCh38 Chromosome 19, 54939111: 54939111
39 NLRP7 NM_001127255.1(NLRP7): c.183delC (p.Ser62Profs) deletion not provided rs104895546 GRCh37 Chromosome 19, 55452897: 55452897
40 NLRP7 NM_001127255.1(NLRP7): c.183delC (p.Ser62Profs) deletion not provided rs104895546 GRCh38 Chromosome 19, 54941529: 54941529
41 NLRP7 NM_001127255.1(NLRP7): c.1931+110T> C single nucleotide variant not provided rs11879109 GRCh37 Chromosome 19, 55450146: 55450146
42 NLRP7 NM_001127255.1(NLRP7): c.1931+110T> C single nucleotide variant not provided rs11879109 GRCh38 Chromosome 19, 54938778: 54938778
43 NLRP7 NM_001127255.1(NLRP7): c.1931+176G> T single nucleotide variant not provided rs104895533 GRCh37 Chromosome 19, 55450080: 55450080
44 NLRP7 NM_001127255.1(NLRP7): c.1931+176G> T single nucleotide variant not provided rs104895533 GRCh38 Chromosome 19, 54938712: 54938712
45 NLRP7 NM_001127255.1(NLRP7): c.1931+18A> T single nucleotide variant not provided rs104895531 GRCh37 Chromosome 19, 55450238: 55450238
46 NLRP7 NM_001127255.1(NLRP7): c.1931+18A> T single nucleotide variant not provided rs104895531 GRCh38 Chromosome 19, 54938870: 54938870
47 NLRP7 NM_001127255.1(NLRP7): c.1931+226C> G single nucleotide variant not provided rs104895534 GRCh37 Chromosome 19, 55450030: 55450030
48 NLRP7 NM_001127255.1(NLRP7): c.1931+226C> G single nucleotide variant not provided rs104895534 GRCh38 Chromosome 19, 54938662: 54938662
49 NLRP7 NM_001127255.1(NLRP7): c.1931+43C> T single nucleotide variant not provided rs104895532 GRCh37 Chromosome 19, 55450213: 55450213
50 NLRP7 NM_001127255.1(NLRP7): c.1931+43C> T single nucleotide variant not provided rs104895532 GRCh38 Chromosome 19, 54938845: 54938845
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Expression for Hydatidiform Mole, Recurrent, 1

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Search GEO for disease gene expression data for Hydatidiform Mole, Recurrent, 1.
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GO Terms for Hydatidiform Mole, Recurrent, 1

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Biological processes related to Hydatidiform Mole, Recurrent, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.56 CGA CGB3 CGB5 INHA
2 cell-cell signaling GO:0007267 9.5 CGB3 CGB5 INHA
3 hormone-mediated signaling pathway GO:0009755 9.37 CGB3 CGB5
4 female gamete generation GO:0007292 9.16 CGB3 CGB5
5 negative regulation of phosphorylation GO:0042326 8.96 CDKN1C INHA
6 peptide hormone processing GO:0016486 8.8 CGA CGB3 CGB5

Molecular functions related to Hydatidiform Mole, Recurrent, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 CGA CGB3 INHA
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Sources for Hydatidiform Mole, Recurrent, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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