HYDM1
MCID: HYD046
MIFTS: 59

Hydatidiform Mole, Recurrent, 1 (HYDM1)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hydatidiform Mole, Recurrent, 1

MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 1:

Name: Hydatidiform Mole, Recurrent, 1 57 72 29 6 70
Hydatidiform Mole 57 73 20 58 72 29 13 54 6 17 70 32
Gestational Trophoblastic Disease 57 73 58 72 54 70
Complete Hydatidiform Mole 58 72 70
Hydm 57 20 72
Hydatidiform Mole, Complete 57 6
Molar Pregnancy 20 58
Hydm1 57 72
Chm 57 72
Mole, Hydatidiform, Recurrent, Type 1 39
Gestational Trophoblastic Neoplasms 70
Hydatidiform Mole, Complete; Chm 57
Hydatidiform Mole, Recurrent, 2 70
Complete Molar Pregnancy 58
Hydatidiform Mole; Hydm 57
Hydatid Mole 20

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
hydatidiform mole, recurrent, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

OMIM® 57 231090
OMIM Phenotypic Series 57 PS231090
MeSH 44 D006828
ICD10 32 O01 O01.9
MESH via Orphanet 45 D006828
ICD10 via Orphanet 33 O01.0 O01.1 O01.9
UMLS via Orphanet 71 C0020217 C0678213 C1135868 more
UMLS 70 C0020217 C0678213 C1135868 more

Summaries for Hydatidiform Mole, Recurrent, 1

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Hydatidiform Mole, Recurrent, 1, also known as hydatidiform mole, is related to partial hydatidiform mole and recurrent hydatidiform mole. 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 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. The drugs Paclitaxel and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include placenta, uterus and thyroid, and related phenotypes are nausea and vomiting and anemia

GARD : 20 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 : 72 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 : 73 Gestational trophoblastic disease (GTD) is a term used for a group of pregnancy-related tumours. These... more...

Related Diseases for Hydatidiform Mole, Recurrent, 1

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 224)
# Related Disease Score Top Affiliating Genes
1 partial hydatidiform mole 33.1 NLRP7 KHDC3L
2 recurrent hydatidiform mole 32.3 NLRP7 NCR1 KHDC3L
3 choriocarcinoma 31.5 H19 CGB5 CGB3 CGA CDKN1C
4 triploidy 31.2 NLRP7 KHDC3L CGA
5 gestational choriocarcinoma 30.9 NLRP7 H19
6 ectopic pregnancy 30.8 CGB5 CGB3 CGA
7 pre-eclampsia 30.7 PSG1 INHA H19 CGB3
8 gestational trophoblastic neoplasm 30.5 PHLDA2 NLRP7 NCR1 KHDC3L H19 CGB5
9 placental site trophoblastic tumor 30.4 INHA CGB5 CGB3
10 epithelioid trophoblastic tumor 30.3 INHA CGB3
11 ovarian hyperstimulation syndrome 30.2 CGB5 CGA
12 placenta disease 30.1 CGB5 CGB3 CGA
13 mixed germ cell tumor 29.9 CGB3 CGA
14 teratoma 29.8 CGB5 CGB3 CGA
15 infertility 29.8 INHA H19 CGB3 CGA
16 testicular cancer 29.7 CGB5 CGB3 CGA
17 trophoblastic neoplasm 29.7 NLRP7 KHDC3L INHA H19 CGB5 CGB3
18 beckwith-wiedemann syndrome 29.4 PHLDA2 NLRP7 KHDC3L H19 CDKN1C
19 silver-russell syndrome 1 28.9 PHLDA2 NLRP7 KHDC3L H19 CDKN1C
20 invasive mole 11.4
21 pulmonary arteriovenous fistulas 11.2
22 hydatidiform mole, recurrent, 2 10.9
23 hydatidiform mole, recurrent, 3 10.9
24 hydatidiform mole, recurrent, 4 10.9
25 eclampsia 10.8
26 hyperthyroidism 10.8
27 severe pre-eclampsia 10.6
28 graves disease 1 10.6
29 placenta praevia 10.5
30 chromosomal triplication 10.5
31 amenorrhea 10.5
32 ovarian cyst 10.5
33 pemphigoid gestationis 10.4
34 anencephaly 10.2
35 nephrotic syndrome 10.2
36 47,xyy 10.2
37 alopecia 10.2
38 mosaic trisomy 8 10.2
39 neural tube defects 10.2
40 down syndrome 10.2
41 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
42 yemenite deaf-blind hypopigmentation syndrome 10.2
43 endometrial cancer 10.2
44 proteinuria, chronic benign 10.2
45 deficiency anemia 10.2
46 pemphigus gestationis 10.2
47 chorioamnionitis 10.2
48 pemphigoid 10.2
49 endometritis 10.2
50 hydronephrosis 10.2

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



Diseases related to Hydatidiform Mole, Recurrent, 1

Symptoms & Phenotypes for Hydatidiform Mole, Recurrent, 1

Human phenotypes related to Hydatidiform Mole, Recurrent, 1:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002017
2 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
3 spontaneous abortion 58 31 hallmark (90%) Very frequent (99-80%) HP:0005268
4 preeclampsia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100602
5 menometrorrhagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0400008
6 enlarged uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0100878
7 hyperthyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000836
8 abnormality of the genitourinary system 31 HP:0000119
9 hydatidiform mole 31 HP:0032192

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Prenatal Manifestations Placenta And Umbilical Cord:
hydatidiform mole
gestational trophoblastic disease

Clinical features from OMIM®:

231090 (Updated 20-May-2021)

Drugs & Therapeutics for Hydatidiform Mole, Recurrent, 1

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

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
2
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
3
Etoposide Approved Phase 3 33419-42-0 36462
4
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
5
Amifostine Approved, Investigational Phase 3 20537-88-6 2141
6
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
7
leucovorin Approved Phase 3 58-05-9 6006
8
Nitroglycerin Approved, Investigational Phase 2, Phase 3 55-63-0 4510
9
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
10
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
11
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
12
Polyestradiol phosphate Approved Phase 3 28014-46-2
13
Moxifloxacin Approved, Investigational Phase 3 151096-09-2, 354812-41-2 152946
14
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
15
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
16
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
17
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
18 Antimitotic Agents Phase 3
19 Etoposide phosphate Phase 3
20 Albumin-Bound Paclitaxel Phase 3
21 Tubulin Modulators Phase 3
22 Radiation-Protective Agents Phase 3
23 Liver Extracts Phase 3
24 Hematinics Phase 3
25 Cactinomycin Phase 3
26 Folic Acid Antagonists Phase 2, Phase 3
27 Antirheumatic Agents Phase 3
28 Vitamin B Complex Phase 2, Phase 3
29 Immunosuppressive Agents Phase 3
30 Folate Phase 2, Phase 3
31 Immunologic Factors Phase 3
32 Vitamin B9 Phase 2, Phase 3
33 Dermatologic Agents Phase 3
34 Antimetabolites Phase 3
35 Antibiotics, Antitubercular Phase 2, Phase 3
36 Anti-Bacterial Agents Phase 3
37 Anti-Infective Agents Phase 3
38 Contraceptive Agents Phase 3
39 Contraceptives, Oral, Combined Phase 3
40 Estradiol 3-benzoate Phase 3
41 Estradiol 17 beta-cypionate Phase 3
42 Contraceptives, Oral Phase 3
43 Norgestimate, ethinyl estradiol drug combination Phase 3
44
Ondansetron Approved Phase 2 99614-02-5 4595
45
Lenograstim Approved, Investigational Phase 2 135968-09-1
46
Oprelvekin Approved, Investigational Phase 2 145941-26-0
47
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
48
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
49
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
50
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 A Comparison of Single Versus Double Evacuation for Treatment of Hydatidiform Unknown status NCT01630954 Phase 4
2 Primary Surgery Plus Single Course Methotrexate Versus Primary Methotrexate for Treatment of Gestational Trophoblastic Neoplasms in Low Risk Cases Above 40y: a Randomized Controled Trial Unknown status NCT02606539 Phase 2, Phase 3 Methotrexate plus folinic acid alone
3 A Prospective Randomized Multicenter Clinical Control Study of Paclitaxel Plus Cisplatin as the First-line Chemotherapy in High Risk Gestational Trophoblastic Tumor Unknown status NCT02639650 Phase 3 Etoposide;actinomycin D;methotrexate;vincristine;cyclophosphamide;Paclitaxel;Cisplatin;Carboplatin
4 A Phase III Randomized Trial of Pulse Actinomycin-D Versus Multi-day Methotrexate for the Treatment of Low-Risk Gestational Trophoblastic Neoplasia Unknown status NCT01535053 Phase 3 Leucovorin Calcium;Methotrexate
5 Comparison Between Rescue Regimen and High Dose Methotrexate in the Managment of Presistent Gestational Trophoplastic Neoplasia :( A Randomized Controlled Trial ) Unknown status NCT03280979 Phase 2, Phase 3 rescue regimen;high dose methotrxate
6 A Randomized Phase III Trial of Amifostine vs. No Treatment for Platinum Induced Peripheral Neuropathy Completed NCT00058071 Phase 3 amifostine trihydrate
7 The Efficacy of Methotrexate for the Prevention of Postmolar Gestational Trophoblastic Disease Among Patients With High-Risk Hydatidiform Mole Completed NCT01984099 Phase 3 Methotrexate;Vitamin B Complex
8 A Randomized Phase III Trial of Weekly Parenteral Methotrexate Versus "Pulsed" Dactinomycin as Primary Management for Low Risk Gestational Trophoblastic Neoplasia Completed NCT00003702 Phase 3 Methotrexate
9 Impact of Second Uterine Evacuation in Women With Non-metastatic, Low-risk Gestational Trophoblastic Neoplasia: A Phase III Trial Recruiting NCT04756713 Phase 3 Chemotherapy
10 A Prospective Randomized Multicenter Clinical Control Study of Hysteroscopic Repeat Curettage as the Primal Management of Low-risk Postmolar Gestational Trophoblastic Neoplasia Recruiting NCT03703271 Phase 3 Methotrexate
11 Women's Hospital, Zhejiang University School of Medicine Recruiting NCT03885388 Phase 2, Phase 3 MTX;MTX+ACTD
12 A Multicenter, Prospective, Randomized Trial of 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
13 Randomized, Double Blinded, Placebo-Controlled Trial of Antibacterial Prophylaxis for the Prevention of Bacterial Infections in the Post-Engraftment Phase After Allogeneic Hematopoeitic Stem Cell Transplantation Terminated NCT00324324 Phase 3 moxifloxacin hydrochloride;Placebo
14 A Phase II Study to Determine the Response to Second Curettage as Initial Management for Persistent Low Risk, Non-metastatic Gestational Trophoblastic Neoplasia Completed NCT00521118 Phase 2
15 A Phase II Trial of Pemetrexed (Alimta) in the Treatment of Recurrent or Persistent Low Risk Gestational Trophoblastic Tumor Completed NCT00190918 Phase 2 Pemetrexed
16 Prevention of DMSO-Related Nausea and Vomiting by Prophylactic Administration of Ondansetron for Patients Receiving Autologous Cryopreserved Peripheral Blood Stem Cells Completed NCT00795769 Phase 2 ondansetron
17 Psychosexual Intervention for Gynecologic and Breast Cancer Patients Completed NCT01764802 Phase 2
18 Oral Beclomethasone Dipropionate Capsules for Treatment of Intestinal Graft-Versus-Host Disease: Compassionate Use in Patients With Contraindictions to High-Dose Immunosuppressive Therapy Completed NCT00010283 Phase 1, Phase 2 beclomethasone dipropionate
19 Combination of Interleukin 11 (Neumega) With G-CSF to Mobilize Autologous Peripheral Blood Stem Cells (PBSC) Completed NCT00004157 Phase 2
20 Donor Lymphocyte Infusion (DLI) as Adoptive Immunotherapy for Relapse Malignancies After Allogeneic Hematopoietic Transplantation Completed NCT00003887 Phase 2
21 Pulse Actinomycin-D as Salvage Therapy for Failed Low Risk Gestational Trophoblastic Neoplasia Completed NCT00003688 Phase 2
22 Cytokine-Based Immunotherapy Following High-Dose Chemotherapy and Autologous Stem Cell Transplantation Completed NCT00003408 Phase 2
23 A Phase II Study to Evaluate Low-Dose Alemtuzumab as a Glucocorticoid-Sparing Agent for Initial Systemic Treatment of Acute Graft-Versus-Host Disease Completed NCT00410657 Phase 2 methylprednisolone;prednisone
24 Phase II Clinical Trial Incorporating Alemtuzumab (Campath-1H) in Combination With FK506 and Methylprednisolone for Treatment of Severe Acute Graft vs Host Disease Completed NCT00109993 Phase 2 methylprednisolone;tacrolimus
25 A Phase I-II Safety, Tolerability And Pharmacokinetic Study Of Ravuconazole For Prophylaxis Of Invasive Fungal Infections In Patients Undergoing Non-Myeloablative Allogeneic Hematopoietic Stem Cell Transplantation Completed NCT00064311 Phase 1, Phase 2 ravuconazole
26 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
27 TROPHAMET, a Phase I/II Trial of Avelumab and METhotrexate in Low-risk Gestational TROPHoblastic Neoplasias as First Line Treatment Recruiting NCT04396223 Phase 1, Phase 2 Avelumab Injection;Methotrexate 1 GM Injection
28 A Phase II Trial of Avelumab in Chemo-resistant Gestational Trophoblastic Neoplasias (GTN) Recruiting NCT03135769 Phase 2 Avelumab administration at 10mg/kg
29 Camrelizumab Combined With Apatinib for Recurrent Resistant Gestational Trophoblastic Neoplasia: a Phase 2, Single-arm, Prospective Study Active, not recruiting NCT04047017 Phase 2 Apatinib;Camrelizumab
30 Phase II Single-arm Clinical Study of PD-1 Antibody and Bevacizumab in the Treatment of Relapsed or Refractory High-risk Gestational Trophoblasitc Neoplasia After Second-line or Above Combined Chemotherapy Not yet recruiting NCT04812002 Phase 2 PD-1 inhibitor, bevacizumab
31 Phase 2 Trial for Chemo-Resistant Gestational Trophoblastic Neoplasias With Pembrolizumab Not yet recruiting NCT04303884 Phase 2 Pembrolizumab Injection [Keytruda]
32 A Phase 2A Study of TRC105 (With Option to Add Bevacizumab) in Patients With Refractory Gestational Trophoblastic Neoplasia (GTN) Terminated NCT02664961 Phase 2 TRC105;Bevacizumab
33 Deferasirox Treatment and Labile Plasma Iron in Iron Overloaded Patients Who Have Undergone Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01159067 Phase 2 deferasirox
34 A Phase II Trial of Pemetrexed (ALIMTA®, LY231514, IND #40061) as Salvage Therapy for Failed Low Risk Gestational Trophoblastic Tumor Terminated NCT00096187 Phase 2 pemetrexed disodium
35 A Phase I Trial of Recombinant Human Interleukin-12 After High-Dose Therapy and Autologous Hematopoietic Stem Cell Support Completed NCT00003107 Phase 1
36 Prolonged Infusion Compared to Standard Infusion Cefepime as Empiric Treatment of Febrile Neutropenia: A Pilot Study Completed NCT01484015 Phase 1 cefepime hydrochloride
37 Detection of Minimal Amount of Human Chorionic Gonadotropin by Interferometry in Gestational Trophoblastic Disease Unknown status NCT00166790 chemotherapy agents
38 A Global Assessment of Medical, Emotional and Reproductive Concerns in Gestational Trophoblastic Disease Survivors Completed NCT00706875
39 Tissue Bank for Studies Related to Graft-Versus-Host Disease (GVHD) Completed NCT00900406
40 Acquisition of Human Gynecologic Specimens to be Used in Studying the Causes, Diagnosis, Prevention and Treatment of Cancer Completed NCT00897442
41 A Biobehavioral Intervention for Patients With Gynecologic or Breast Cancer Recurrence Completed NCT01764789
42 Randomized-Controlled, Pilot Study of the Effects of a Brief, Scripted Sexual Health Intervention on Sexual Function for Women With Gynecologic Cancer Completed NCT02096783
43 Pilot Study Evaluating Aprepitant (MK-869) for Prevention of Nausea & Vomiting Secondary to High Dose Cyclophosphamide Administered to Patients Underging Undergoing Peripheral Hematopoietic Progenitor Cell Mobilization Prior to Autologous Transplantation Completed NCT00293384 Aprepitant;Cyclophosphamide;Dexamethasone;Granisetron hydrochloride
44 A Pilot Study to Evaluate the Potential Efficacy of Lithium Carbonate for Stimulation of Intestinal Recovery In Patients With Acute Graft-versus-host Disease (GVHD) Completed NCT00408681 lithium carbonate
45 Emotional Needs of Caregivers and Patient/Spouse Couples During Hematopoietic Stem Cell Transplantation (HSCT) Completed NCT00082654
46 The French National Reference Centre of Gestational Trophoblastic Disease Recruiting NCT02892877
47 Genetic Studies in Gestational Trophoblastic Disease Recruiting NCT01008501
48 Study of Different Therapeutic Strategies in Hydatidiform Mole With Lung Nodule,A Prospective Multicentre Randomized Controlled Trial Recruiting NCT03785574 chemotherapy
49 A Prospective,Multicenter,Randomized Trial of Biweekly Single-dose Actinomycin-D Versus Multi-day Methotrexate Protocol for the Treatment of Low-risk Gestational Trophoblastic Neoplasia Recruiting NCT04562558 Methotrexate;Leucovorin;Dactinomycin
50 The Registry of Oncology Outcomes Associated With Testing and Treatment (ROOT) Not yet recruiting NCT04028479 Systemic Treatment (T)

Search NIH Clinical Center for Hydatidiform Mole, Recurrent, 1

Genetic Tests for Hydatidiform Mole, Recurrent, 1

Genetic tests related to Hydatidiform Mole, Recurrent, 1:

# Genetic test Affiliating Genes
1 Hydatidiform Mole, Recurrent, 1 29 NLRP7
2 Hydatidiform Mole 29

Anatomical Context for Hydatidiform Mole, Recurrent, 1

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

40
Placenta, Uterus, Thyroid, Lung, T Cells, Breast, Ovary

Publications for Hydatidiform Mole, Recurrent, 1

Articles related to Hydatidiform Mole, Recurrent, 1:

(show top 50) (show all 2886)
# Title Authors PMID Year
1
Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. 61 57 6
23125094 2013
2
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. 57 6 61
19246479 2009
3
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. 61 57 6
19066229 2009
4
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. 61 57 6
16462743 2006
5
The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. 6 57 61
12471053 2002
6
Mole maker phenotype: possible narrowing of the candidate region. 6 57 61
10951527 2000
7
Genetic mapping of a maternal locus responsible for familial hydatidiform moles. 61 6 57
10072436 1999
8
Hydatidiform mole and fetus with normal karyotype: support of a separate entity. 61 6 57
2030859 1991
9
Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221. 57 6
22909446 2012
10
NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly. 61 6
25082979 2014
11
Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation. 61 57
25097207 2014
12
Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations. 6 61
23201303 2013
13
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. 6 61
21885028 2011
14
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage. 6 61
21659348 2011
15
Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families. 61 6
21623199 2011
16
A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. 6 61
18039680 2008
17
The genetics of hydatidiform moles: new lights on an ancient disease. 61 57
17204043 2007
18
Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole. 61 6
16239310 2006
19
A global disorder of imprinting in the human female germ line. 61 6
11932746 2002
20
A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution. 61 57
10480363 1999
21
Genetically homozygous choriocarcinoma following pregnancy with hydatidiform mole. 61 57
2906253 1988
22
Segregation patterns of polymorphic restriction sites of the gene encoding the alpha subunit of human chorionic gonadotropin in trophoblastic disease. 57 61
6201859 1984
23
Familial occurrence of trophoblastic disease - report of recurrent molar pregnancies in sisters in three families. 61 57
6251988 1980
24
Androgenetic origin of hydatidiform mole. 57 61
561314 1977
25
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7. 6
23232697 2013
26
The p.L750V mutation in the NLRP7 gene is frequent in Mexican patients with recurrent molar pregnancies and is not associated with recurrent pregnancy loss. 6
23354651 2013
27
Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles. 6
22315435 2012
28
An NLRP7-containing inflammasome mediates recognition of microbial lipopeptides in human macrophages. 6
22361007 2012
29
A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation. 6
19650864 2009
30
Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure. 6
19054016 2009
31
Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. 57
16874523 2006
32
Familial recurrent molar pregnancy: a case report. 6
14756744 2004
33
Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles. 57
12783848 2003
34
Recurrent molar pregnancy: report of a case with seven consecutive hydatidiform moles. 6
11598368 2001
35
Recurrent molar pregnancies in a family with extensive intermarriage: report of a family and review of the literature. 57
7675417 1995
36
Genetic analysis of repeated, biparental, diploid, hydatidiform moles. 57
8096796 1993
37
A genetic review of complete and partial hydatidiform moles and nonmolar triploidy. 57
1434919 1992
38
Pre-evacuation hCG glycoforms in uneventful complete hydatidiform mole and persistent trophoblastic disease. 54 61
20116088 2010
39
The management and outcome of women with post-hydatidiform mole 'low-risk' gestational trophoblastic neoplasia, but hCG levels in excess of 100 000 IU l(-1). 54 61
20160727 2010
40
Human chorionic gonadotropin tests. 61 54
19817556 2009
41
Complete hydatidiform mole with retained maternal chromosomes 6 and 11. 61 54
19542869 2009
42
Prognostic relevance of F-18 fluorodeoxyglucose positron emission tomography and computed tomography in molar pregnancy before evacuation. 54 61
19691261 2009
43
Diagnosis and subclassification of hydatidiform moles using p57 immunohistochemistry and molecular genotyping: validation and prospective analysis in routine and consultation practice settings with development of an algorithmic approach. 61 54
19145201 2009
44
Earlier diagnosis and serum human chorionic gonadotropin regression in complete hydatidiform moles. 61 54
19155902 2009
45
Human chorionic gonadotropin and associated molecules. 61 54
19099349 2009
46
New discoveries on the biology and detection of human chorionic gonadotropin. 61 54
19171054 2009
47
Utility of p57 protein(KIP2) in molar disease to determine its androgenetic origin. 61 54
18720921 2008
48
Early identification of persistent trophoblastic disease with serum hCG concentration ratios. 54 61
17511799 2008
49
IGF-II regulates metastatic properties of choriocarcinoma cells through the activation of the insulin receptor. 54 61
17556377 2007
50
Recurrent gestational trophoblastic disease after hCG normalization following hydatidiform mole in The Netherlands. 61 54
17462723 2007

Variations for Hydatidiform Mole, Recurrent, 1

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

6 (show top 50) (show all 231)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLRP7 NM_001127255.1(NLRP7):c.352+1G>A SNV Pathogenic 1584 rs104895504 GRCh37: 19:55452298-55452298
GRCh38: 19:54940930-54940930
2 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2471+1G>A SNV Pathogenic 1585 rs104895505 GRCh37: 19:55445856-55445856
GRCh38: 19:54934488-54934488
3 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2077C>T (p.Arg693Trp) SNV Pathogenic 1586 rs104895506 GRCh37: 19:55449464-55449464
GRCh38: 19:54938096-54938096
4 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2078G>C (p.Arg693Pro) SNV Pathogenic 1587 rs104895502 GRCh37: 19:55449463-55449463
GRCh38: 19:54938095-54938095
5 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2738A>G (p.Asn913Ser) SNV Pathogenic 1588 rs104895503 GRCh37: 19:55441939-55441939
GRCh38: 19:54930571-54930571
6 NLRP7 NM_001127255.1(NLRP7):c.1294C>T (p.Arg432Ter) SNV Pathogenic 1589 rs104895530 GRCh37: 19:55450893-55450893
GRCh38: 19:54939525-54939525
7 NLRP7 NLRP7, 1-BP INS, 337G Insertion Pathogenic 1590 GRCh37:
GRCh38:
8 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2078G>A (p.Arg693Gln) SNV Pathogenic 1591 rs104895502 GRCh37: 19:55449463-55449463
GRCh38: 19:54938095-54938095
9 NLRP7 NM_001127255.1(NLRP7):c.1193T>G (p.Leu398Arg) SNV Pathogenic 1592 rs104895548 GRCh37: 19:55450994-55450994
GRCh38: 19:54939626-54939626
10 NLRP7 NM_001127255.1(NLRP7):c.1951C>T (p.Pro651Ser) SNV Pathogenic 1593 rs104895549 GRCh37: 19:55449590-55449590
GRCh38: 19:54938222-54938222
11 KHDC3L NM_001017361.3(KHDC3L):c.3G>T (p.Met1Ile) SNV Pathogenic 30926 rs606231233 GRCh37: 6:74072455-74072455
GRCh38: 6:73362732-73362732
12 KHDC3L NM_001017361.3(KHDC3L):c.322_325del (p.Asp108fs) Deletion Pathogenic 30927 rs606231234 GRCh37: 6:74072968-74072971
GRCh38: 6:73363245-73363248
13 KHDC3L NM_001017361.3(KHDC3L):c.1A>G (p.Met1Val) SNV Pathogenic 30928 rs606231235 GRCh37: 6:74072453-74072453
GRCh38: 6:73362730-73362730
14 NLRP7 NLRP7, 14-BP DUP, NT939 Duplication Pathogenic 41406 GRCh37:
GRCh38:
15 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2030del (p.Leu677fs) Deletion Pathogenic 41407 rs104895554 GRCh37: 19:55449511-55449511
GRCh38: 19:54938143-54938143
16 NLRP7 NM_001127255.1(NLRP7):c.1224_1232delinsT (p.Arg409fs) Indel Pathogenic 997708 GRCh37: 19:55450955-55450963
GRCh38: 19:54939587-54939595
17 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2248C>G (p.Leu750Val) SNV Pathogenic 97750 rs104895512 GRCh37: 19:55447681-55447681
GRCh38: 19:54936313-54936313
18 NLRP7 NM_001127255.1(NLRP7):c.337dup (p.Glu113fs) Duplication Pathogenic 97796 rs104895553 GRCh37: 19:55452313-55452314
GRCh38: 19:54940945-54940946
19 KHDC3L NM_001017361.3(KHDC3L):c.299_302del (p.Ile100fs) Deletion Pathogenic 157611 rs606231286 GRCh37: 6:74072944-74072947
GRCh38: 6:73363221-73363224
20 NLRP7 NM_001127255.1(NLRP7):c.1857_1858del (p.Lys619fs) Deletion Pathogenic 812700 GRCh37: 19:55450329-55450330
GRCh38: 19:54938961-54938962
21 NLRP7 NM_001127255.1(NLRP7):c.1460_1461insA (p.Glu488fs) Insertion Pathogenic 997624 GRCh37: 19:55450726-55450727
GRCh38: 19:54939358-54939359
22 NLRP7 NM_001127255.1(NLRP7):c.1459_1460insAG (p.Gly487fs) Insertion Pathogenic 998274 GRCh37: 19:55450727-55450728
GRCh38: 19:54939359-54939360
23 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2320_2321insT (p.Thr774fs) Insertion Likely pathogenic 830330 GRCh37: 19:55446007-55446008
GRCh38: 19:54934639-54934640
24 KHDC3L NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter) SNV Likely pathogenic 208592 rs745776920 GRCh37: 6:74072982-74072982
GRCh38: 6:73363259-73363259
25 NLRP7 NM_001127255.1(NLRP7):c.531C>T (p.His177=) SNV Conflicting interpretations of pathogenicity 330181 rs746150420 GRCh37: 19:55451656-55451656
GRCh38: 19:54940288-54940288
26 NLRP7 NM_001127255.1(NLRP7):c.352+13G>A SNV Uncertain significance 330184 rs115894800 GRCh37: 19:55452286-55452286
GRCh38: 19:54940918-54940918
27 NLRP7 NM_001127255.1(NLRP7):c.1718G>A (p.Gly573Asp) SNV Uncertain significance 330165 rs149696586 GRCh37: 19:55450469-55450469
GRCh38: 19:54939101-54939101
28 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2548C>T (p.His850Tyr) SNV Uncertain significance 330159 rs886054632 GRCh37: 19:55445031-55445031
GRCh38: 19:54933663-54933663
29 NLRP7 NM_001127255.1(NLRP7):c.9G>A (p.Ser3=) SNV Uncertain significance 127264 rs199475821 GRCh37: 19:55453071-55453071
GRCh38: 19:54941703-54941703
30 NLRP7 NM_001127255.1(NLRP7):c.1168C>T (p.Arg390Cys) SNV Uncertain significance 330171 rs543019983 GRCh37: 19:55451019-55451019
GRCh38: 19:54939651-54939651
31 NLRP7 NM_001127255.1(NLRP7):c.835G>T (p.Val279Leu) SNV Uncertain significance 330177 rs144378653 GRCh37: 19:55451352-55451352
GRCh38: 19:54939984-54939984
32 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2788A>T (p.Asn930Tyr) SNV Uncertain significance 290323 rs201379032 GRCh37: 19:55441889-55441889
GRCh38: 19:54930521-54930521
33 NLRP7 NM_001127255.1(NLRP7):c.749T>G (p.Phe250Cys) SNV Uncertain significance 330178 rs78096121 GRCh37: 19:55451438-55451438
GRCh38: 19:54940070-54940070
34 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2373G>A (p.Leu791=) SNV Uncertain significance 330161 rs768473188 GRCh37: 19:55445955-55445955
GRCh38: 19:54934587-54934587
35 NLRP7 NM_001127255.1(NLRP7):c.1113G>A (p.Thr371=) SNV Uncertain significance 330173 rs531055840 GRCh37: 19:55451074-55451074
GRCh38: 19:54939706-54939706
36 NLRP7 NM_001127255.1(NLRP7):c.977A>T (p.Glu326Val) SNV Uncertain significance 330175 rs146193856 GRCh37: 19:55451210-55451210
GRCh38: 19:54939842-54939842
37 NLRP7 NM_001127255.1(NLRP7):c.1488C>T (p.Asp496=) SNV Uncertain significance 330168 rs775944680 GRCh37: 19:55450699-55450699
GRCh38: 19:54939331-54939331
38 NLRP7 NM_001127255.1(NLRP7):c.555C>T (p.Thr185=) SNV Uncertain significance 330180 rs754428027 GRCh37: 19:55451632-55451632
GRCh38: 19:54940264-54940264
39 NLRP7 NM_001127255.1(NLRP7):c.1257C>G (p.Ala419=) SNV Uncertain significance 330170 rs151120858 GRCh37: 19:55450930-55450930
GRCh38: 19:54939562-54939562
40 NLRP7 NM_001127255.1(NLRP7):c.66A>G (p.Leu22=) SNV Uncertain significance 330186 rs149175257 GRCh37: 19:55453014-55453014
GRCh38: 19:54941646-54941646
41 NLRP7 NM_001127255.1(NLRP7):c.-39-3C>T SNV Uncertain significance 330188 rs772074527 GRCh37: 19:55453121-55453121
GRCh38: 19:54941753-54941753
42 NLRP7 NM_001127255.1(NLRP7):c.574A>C (p.Met192Leu) SNV Uncertain significance 97804 rs104895529 GRCh37: 19:55451613-55451613
GRCh38: 19:54940245-54940245
43 NLRP7 NM_001127255.1(NLRP7):c.701T>C (p.Leu234Ser) SNV Uncertain significance 97805 rs61732584 GRCh37: 19:55451486-55451486
GRCh38: 19:54940118-54940118
44 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2642+17TG[6] Microsatellite Uncertain significance 997709 GRCh37: 19:55444907-55444908
GRCh38: 19:54933539-54933540
45 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2695C>T (p.Leu899Phe) SNV Uncertain significance 997710 GRCh37: 19:55441982-55441982
GRCh38: 19:54930614-54930614
46 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2156C>T (p.Ala719Val) SNV Uncertain significance 97747 rs104895526 GRCh37: 19:55447773-55447773
GRCh38: 19:54936405-54936405
47 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2094C>T (p.His698=) SNV Uncertain significance 97734 rs104895524 GRCh37: 19:55449447-55449447
GRCh38: 19:54938079-54938079
48 NLRP7 , NCR1 NM_001127255.1(NLRP7):c.2095G>A (p.Val699Ile) SNV Uncertain significance 97735 rs77072552 GRCh37: 19:55449446-55449446
GRCh38: 19:54938078-54938078
49 KIR3DL1 , NLRP7 NM_001127255.1(NLRP7):c.1137G>C (p.Lys379Asn) SNV Uncertain significance 97715 rs10418277 GRCh37: 19:55451050-55451050
GRCh38: 19:54939682-54939682
50 NLRP7 NM_001127255.1(NLRP7):c.1138G>C (p.Gly380Arg) SNV Uncertain significance 97716 rs104895557 GRCh37: 19:55451049-55451049
GRCh38: 19:54939681-54939681

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

72
# 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

Expression for Hydatidiform Mole, Recurrent, 1

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

GO Terms for Hydatidiform Mole, Recurrent, 1

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.5 INHA CGB5 CGB3
2 hormone-mediated signaling pathway GO:0009755 9.37 CGB5 CGB3
3 replication fork processing GO:0031297 9.26 PCNA KHDC3L
4 female gamete generation GO:0007292 9.16 CGB5 CGB3
5 negative regulation of phosphorylation GO:0042326 8.96 INHA CDKN1C
6 peptide hormone processing GO:0016486 8.8 CGB5 CGB3 CGA

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 8.92 INHA CGB5 CGB3 CGA

Sources for Hydatidiform Mole, Recurrent, 1

3 CDC
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