HYDM1
MCID: HYD046
MIFTS: 60

Hydatidiform Mole, Recurrent, 1 (HYDM1)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Hydatidiform Mole, Recurrent, 1

MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 1:

Name: Hydatidiform Mole, Recurrent, 1 57 73 28 5 71
Hydatidiform Mole 57 19 58 75 73 28 12 53 5 16 71 31
Gestational Trophoblastic Disease 57 58 75 73 53 71
Complete Hydatidiform Mole 58 73 71 33
Hydm 57 19 73
Molar Pregnancy 19 58
Hydm1 57 73
Chm 57 73
Mole, Hydatidiform, Recurrent, Type 1 38
Gestational Trophoblastic Neoplasms 71
Hydatidiform Mole, Recurrent, 2 71
Hydatidiform Mole, Complete 57
Classical Hydatidiform Mole 33
Complete Molar Pregnancy 58
Hydatid Mole 19

Characteristics:


Inheritance:

Hydatidiform Mole, Recurrent, 1: Autosomal recessive 57
Complete Hydatidiform Mole: Autosomal recessive 58
Hydatidiform Mole: Autosomal recessive 58

Age Of Onset:

Complete Hydatidiform Mole: Adult 58
Hydatidiform Mole: Adolescent,Adult 58

HPO:

30
hydatidiform mole, recurrent, 1:
history of stillbirth


Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

OMIM® 57 231090
OMIM Phenotypic Series 57 PS231090
MeSH 43 D006828
ICD10 31 O01 O01.9
MESH via Orphanet 44 D006828
ICD10 via Orphanet 32 O01.0 O01.1 O01.9
UMLS via Orphanet 72 C0020217 C0678213 C1135868 more
ICD11 33 1338299833
UMLS 71 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 08-Dec-2022)

MalaCards based summary: Hydatidiform Mole, Recurrent, 1, also known as hydatidiform mole, is related to partial hydatidiform mole and gestational choriocarcinoma. 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 Methotrexate and Dactinomycin have been mentioned in the context of this disorder. Affiliated tissues include uterus, placenta and ovary, and related phenotypes are nausea and vomiting and anemia

Orphanet 58 Complete hydatidiform mole: A form of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma.

Hydatidiform mole: A rare, benign gestational trophoblastic disease that develops during pregnancy and is characterized by the abnormal fertilization, trophoblastic proliferation, and abnormal or absent embryo development. Hydatidiform moles can be either complete or partial.

GARD: 19 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: 73 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 75 Gestational trophoblastic disease: Gestational trophoblastic disease (GTD) is a term used for a group of pregnancy-related tumours. These... more...

Hydatidiform mole: A molar pregnancy also known as a hydatidiform mole, is an abnormal form of pregnancy in which a... 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 270)
# Related Disease Score Top Affiliating Genes
1 partial hydatidiform mole 32.9 NLRP7 KHDC3L
2 gestational choriocarcinoma 32.3 NLRP7 H19
3 triploidy 31.8 NLRP7 KHDC3L
4 choriocarcinoma 31.1 INHA H19 CGB5 CGB3 CGA CDKN1C
5 epithelioid trophoblastic tumor 30.7 NLRP7 KHDC3L
6 ectopic pregnancy 30.5 PSG1 CGB5 CGB3 CGA
7 pre-eclampsia 30.5 PSG1 INHA H19 CGB3 CGA
8 ovarian hyperstimulation syndrome 30.2 CGB5 CGA
9 down syndrome 30.0 PSG1 INHA CGB5 CGB3 CGA
10 placental site trophoblastic tumor 29.8 NLRP7 KHDC3L INHA CGB5 CGB3 CGA
11 testicular cancer 29.8 CGB5 CGB3 CGA
12 teratoma 29.6 H19 CGB5 CGB3 CGA
13 infertility 29.6 INHA H19 CGB3 CGA
14 trophoblastic neoplasm 29.6 NLRP7 MEI1 KHDC3L INHA H19 CGB5
15 beckwith-wiedemann syndrome 29.6 PHLDA2 NLRP7 KHDC3L H19 CDKN1C
16 gestational trophoblastic neoplasm 29.4 PHLDA2 NLRP7 NCR1 MEI1 KHDC3L INHA
17 silver-russell syndrome 1 28.9 PHLDA2 NLRP7 KHDC3L H19 CDKN1C
18 recurrent hydatidiform mole 11.9
19 invasive mole 11.7
20 hydatidiform mole, recurrent, 2 11.0
21 hydatidiform mole, recurrent, 3 11.0
22 hydatidiform mole, recurrent, 4 11.0
23 graves disease 1 10.9
24 hyperthyroidism 10.8
25 eclampsia 10.8
26 severe pre-eclampsia 10.6
27 amenorrhea 10.6
28 ovarian cyst 10.5
29 thyroid crisis 10.4
30 corpus luteum cyst 10.4
31 parkinson disease, late-onset 10.4
32 hypothyroidism, congenital, nongoitrous, 2 10.4
33 hypothyroidism, congenital, nongoitrous, 1 10.4
34 hypothyroidism, congenital, nongoitrous, 3 10.4
35 anencephaly 10.4
36 pemphigoid gestationis 10.4
37 deficiency anemia 10.3
38 preeclampsia/eclampsia 1 10.3
39 placenta praevia 10.3
40 disseminated intravascular coagulation 10.3
41 nephrotic syndrome 10.3
42 turner syndrome 10.3
43 47 xxx syndrome 10.3
44 polyploidy 10.3
45 alopecia 10.2
46 mosaic trisomy 8 10.2
47 leiomyoma, uterine 10.2
48 neural tube defects 10.2
49 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
50 spastic ataxia, charlevoix-saguenay type 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 30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nausea and vomiting 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002017
2 anemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001903
3 preeclampsia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100602
4 menometrorrhagia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0400008
5 enlarged uterus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100878
6 hyperthyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000836
7 hydatidiform mole 30 Very rare (1%) HP:0032192
8 spontaneous abortion 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Prenatal Manifestations Placenta And Umbilical Cord:
hydatidiform mole
gestational trophoblastic disease

Clinical features from OMIM®:

231090 (Updated 08-Dec-2022)

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 C11orf80 CDKN1C CGA CGB3 CGB5 INHA
2 reproductive system MP:0005389 9.32 C11orf80 CDKN1C CGA CGB3 CGB5 INHA

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 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 4112 126941
2
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
3
Cisplatin Approved Phase 3 15663-27-1 2767 5702198 441203
4
Carboplatin Approved Phase 3 41575-94-4 10339178 38904
5
Etoposide Approved Phase 3 33419-42-0 36462
6
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
7
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
8
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
9
Letrozole Approved, Investigational Phase 2, Phase 3 112809-51-5 3902
10 Liver Extracts Phase 3
11 Hematinics Phase 3
12 Chrysarobin Phase 3
13 Cactinomycin Phase 3
14 Antirheumatic Agents Phase 3
15 Antimetabolites Phase 3
16 Immunosuppressive Agents Phase 3
17 Dermatologic Agents Phase 3
18 Immunologic Factors Phase 3
19 Anti-Bacterial Agents Phase 3
20 Anti-Infective Agents Phase 3
21 Antibiotics, Antitubercular Phase 3
22 Alkylating Agents Phase 3
23 Albumin-Bound Paclitaxel Phase 3
24 Antineoplastic Agents, Alkylating Phase 3
25
Etoposide phosphate Phase 3 16760419
26 Antimitotic Agents Phase 3
27 Tubulin Modulators Phase 3
28 Estrogens Phase 2, Phase 3
29 Estrogen Receptor Antagonists Phase 2, Phase 3
30 Estrogen Antagonists Phase 2, Phase 3
31 Hormones Phase 2, Phase 3
32 Hormone Antagonists Phase 2, Phase 3
33 Aromatase Inhibitors Phase 2, Phase 3
34
Floxuridine Approved Phase 2 50-91-9 5790
35
Avelumab Approved, Investigational Phase 1, Phase 2 1537032-82-8
36
Pembrolizumab Approved Phase 2 1374853-91-4 254741536
37
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
38
Nitroglycerin Approved, Investigational Phase 2 55-63-0 4510
39
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 60843 446556 135565230
40
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
41
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
42
Rivoceranib Investigational Phase 2 811803-05-1 11315474
43 Protein Kinase Inhibitors Phase 2
44 Immune Checkpoint Inhibitors Phase 2
45 Folic Acid Antagonists Phase 2
46 Folate Phase 2
47 Vitamin B9 Phase 2
48 Vitamin B Complex Phase 2
49 Antineoplastic Agents, Immunological Phase 2
50 Immunoglobulins Phase 2

Interventional clinical trials:

(show all 33)
# Name Status NCT ID Phase Drugs
1 A Comparison of Single Versus Double Evacuation for Treatment of Hydatidiform Unknown status NCT01630954 Phase 4
2 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
3 A Multicenter, Prospective, Randomized Trial of Methotrexate Single-dose Treatment and Methotrexate/Actinomycin-D Single-dose Treatment in Low-Risk Gestational Trophoblastic Neoplasia Unknown status NCT01823315 Phase 3 MTX 1;MTX 2
4 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
5 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
6 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
7 A Phase III Randomized Trial of Pulse Actinomycin-D Versus Multi-day Methotrexate for the Treatment of Low-Risk Gestational Trophoblastic Neoplasia Completed NCT01535053 Phase 3 Leucovorin Calcium;Methotrexate
8 Impact of Second Uterine Evacuation in Women With Non-metastatic, Low-risk Gestational Trophoblastic Neoplasia: A Phase III Trial Recruiting NCT04756713 Phase 3 Chemotherapy
9 A Prospective Randomized Multicenter Clinical Control Study of Paclitaxel Plus Cisplatin as the First-line Chemotherapy in High Risk Gestational Trophoblastic Tumor Recruiting NCT02639650 Phase 3 Etoposide;actinomycin D;methotrexate;vincristine;cyclophosphamide;Paclitaxel;Cisplatin;Carboplatin
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 The Prophylactic Role of Aromatase Inhibitor Letrozole in Decreasing the Incidence of Gestational Trophoblastic Neoplasia in Patients With Complete Hydatidiform Mole Active, not recruiting NCT05203562 Phase 2, Phase 3 Letrozole tablets
12 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
13 A Phase II Trial of Pemetrexed (Alimta) in the Treatment of Recurrent or Persistent Low Risk Gestational Trophoblastic Tumor Completed NCT00190918 Phase 2 Pemetrexed
14 Camrelizumab Combined With Apatinib for Recurrent Resistant Gestational Trophoblastic Neoplasia: a Phase 2, Single-arm, Prospective Study Completed NCT04047017 Phase 2 Apatinib;Camrelizumab
15 A Phase II Trial of Avelumab in Chemo-resistant Gestational Trophoblastic Neoplasias (GTN) Completed NCT03135769 Phase 2 Avelumab administration at 10mg/kg
16 Pulse Actinomycin-D as Salvage Therapy for Failed Low Risk Gestational Trophoblastic Neoplasia Completed NCT00003688 Phase 2
17 Psychosexual Intervention for Gynecologic and Breast Cancer Patients Completed NCT01764802 Phase 2
18 Camrelizumab Plus Apatinib in Patients With High-risk Gestational Trophoblastic Neoplasia: a Cohort, Open-label, Phase 2 Trial Recruiting NCT05139095 Phase 2 Camrelizumab plus apatinib CohortA;Camrelizumab plus apatinib Cohort B
19 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 Recruiting NCT04812002 Phase 2 PD-1 inhibitor, bevacizumab
20 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
21 A Feasibility Window Study of Pembrolizumab Prior to Second Evacuation for Post-molar Gestational Trophoblastic Neoplasia Not yet recruiting NCT05635344 Phase 2 Pembrolizumab
22 Phase 2 Trial for Chemo-Resistant Gestational Trophoblastic Neoplasias With Pembrolizumab Not yet recruiting NCT04303884 Phase 2 Pembrolizumab Injection [Keytruda]
23 Phase 2 Single Agent Dostarlimab in Chemoresistant Gestational Trophoblastic Neoplasia (GTN) Not yet recruiting NCT05405192 Phase 2 Dostarlimab
24 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
25 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
26 Detection of Minimal Amount of Human Chorionic Gonadotropin by Interferometry in Gestational Trophoblastic Disease Unknown status NCT00166790 chemotherapy agents
27 A Global Assessment of Medical, Emotional and Reproductive Concerns in Gestational Trophoblastic Disease Survivors Completed NCT00706875
28 The French National Reference Centre of Gestational Trophoblastic Disease Recruiting NCT02892877
29 Study of Different Therapeutic Strategies in Hydatidiform Mole With Lung Nodule,A Prospective Multicentre Randomized Controlled Trial Recruiting NCT03785574 chemotherapy
30 The Accuracy of Ultrasound Diagnosis of Hydatidiform Moles Recruiting NCT05516810
31 Genetic Studies in Gestational Trophoblastic Disease Recruiting NCT01008501
32 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
33 A Multi-center Cohort Study of Hydatidiform Mole Not yet recruiting NCT05637892

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 28 NLRP7
2 Hydatidiform Mole 28

Anatomical Context for Hydatidiform Mole, Recurrent, 1

Organs/tissues related to Hydatidiform Mole, Recurrent, 1:

MalaCards : Uterus, Placenta, Ovary, Lung, Breast, Liver, Thyroid
ODiseA: Ovary

Publications for Hydatidiform Mole, Recurrent, 1

Articles related to Hydatidiform Mole, Recurrent, 1:

(show top 50) (show all 4769)
# Title Authors PMID Year
1
Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. 62 57 5
23125094 2013
2
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. 62 57 5
19246479 2009
3
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation. 62 57 5
19066229 2009
4
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans. 62 57 5
16462743 2006
5
The maternally transcribed gene p57(KIP2) (CDNK1C) is abnormally expressed in both androgenetic and biparental complete hydatidiform moles. 62 57 5
12471053 2002
6
Mole maker phenotype: possible narrowing of the candidate region. 62 57 5
10951527 2000
7
Genetic mapping of a maternal locus responsible for familial hydatidiform moles. 62 57 5
10072436 1999
8
Hydatidiform mole and fetus with normal karyotype: support of a separate entity. 62 57 5
2030859 1991
9
Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221. 57 5
22909446 2012
10
NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly. 62 5
25082979 2014
11
Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation. 62 57
25097207 2014
12
Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations. 62 5
23201303 2013
13
Mutations in NLRP7 are associated with diploid biparental hydatidiform moles, but not androgenetic complete moles. 62 5
22315435 2012
14
NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage. 62 5
21659348 2011
15
A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles. 62 5
18039680 2008
16
The genetics of hydatidiform moles: new lights on an ancient disease. 62 57
17204043 2007
17
Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole. 62 5
16239310 2006
18
Familial recurrent molar pregnancy: a case report. 62 5
14756744 2004
19
Recurrent molar pregnancy: report of a case with seven consecutive hydatidiform moles. 62 5
11598368 2001
20
A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution. 62 57
10480363 1999
21
Genetically homozygous choriocarcinoma following pregnancy with hydatidiform mole. 62 57
2906253 1988
22
Segregation patterns of polymorphic restriction sites of the gene encoding the alpha subunit of human chorionic gonadotropin in trophoblastic disease. 62 57
6201859 1984
23
Familial occurrence of trophoblastic disease - report of recurrent molar pregnancies in sisters in three families. 62 57
6251988 1980
24
Androgenetic origin of hydatidiform mole. 62 57
561314 1977
25
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. 5
23354651 2013
26
An NLRP7-containing inflammasome mediates recognition of microbial lipopeptides in human macrophages. 5
22361007 2012
27
A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation. 5
19650864 2009
28
Homozygous NLRP7 mutations in a Moroccan woman with recurrent reproductive failure. 5
19054016 2009
29
Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation. 57
16874523 2006
30
Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles. 57
12783848 2003
31
Recurrent molar pregnancies in a family with extensive intermarriage: report of a family and review of the literature. 57
7675417 1995
32
Genetic analysis of repeated, biparental, diploid, hydatidiform moles. 57
8096796 1993
33
A genetic review of complete and partial hydatidiform moles and nonmolar triploidy. 57
1434919 1992
34
Pre-evacuation hCG glycoforms in uneventful complete hydatidiform mole and persistent trophoblastic disease. 53 62
20116088 2010
35
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). 53 62
20160727 2010
36
Human chorionic gonadotropin tests. 53 62
19817556 2009
37
Complete hydatidiform mole with retained maternal chromosomes 6 and 11. 53 62
19542869 2009
38
Prognostic relevance of F-18 fluorodeoxyglucose positron emission tomography and computed tomography in molar pregnancy before evacuation. 53 62
19691261 2009
39
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. 53 62
19145201 2009
40
Earlier diagnosis and serum human chorionic gonadotropin regression in complete hydatidiform moles. 53 62
19155902 2009
41
Human chorionic gonadotropin and associated molecules. 53 62
19099349 2009
42
New discoveries on the biology and detection of human chorionic gonadotropin. 53 62
19171054 2009
43
Practical issues in the management of low-risk gestational trophoblast tumors. 53 62
19004403 2008
44
Human chorionic gonadotropin free beta-subunit measurement as a marker of placental site trophoblastic tumors. 53 62
18773632 2008
45
Blood test for placental site trophoblastic tumor and nontrophoblastic malignancy for evaluating patients with low positive human chorionic gonadotropin results. 53 62
18720919 2008
46
Utility of p57 protein(KIP2) in molar disease to determine its androgenetic origin. 53 62
18720921 2008
47
Use of serum FSH to identify perimenopausal women with pituitary hCG. 53 62
18258666 2008
48
Early identification of persistent trophoblastic disease with serum hCG concentration ratios. 53 62
17511799 2008
49
Placental site trophoblastic tumor. 53 62
17701427 2008
50
IGF-II regulates metastatic properties of choriocarcinoma cells through the activation of the insulin receptor. 53 62
17556377 2007

Variations for Hydatidiform Mole, Recurrent, 1

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

5 (show top 50) (show all 219)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2077C>T (p.Arg693Trp) SNV Pathogenic
1586 rs104895506 GRCh37: 19:55449464-55449464
GRCh38: 19:54938096-54938096
2 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2078G>C (p.Arg693Pro) SNV Pathogenic
1587 rs104895502 GRCh37: 19:55449463-55449463
GRCh38: 19:54938095-54938095
3 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser) SNV Pathogenic
1588 rs104895503 GRCh37: 19:55441939-55441939
GRCh38: 19:54930571-54930571
4 NLRP7 NM_001127255.2(NLRP7):c.1294C>T (p.Arg432Ter) SNV Pathogenic
1589 rs104895530 GRCh37: 19:55450893-55450893
GRCh38: 19:54939525-54939525
5 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2078G>A (p.Arg693Gln) SNV Pathogenic
1591 rs104895502 GRCh37: 19:55449463-55449463
GRCh38: 19:54938095-54938095
6 NLRP7 NM_001127255.2(NLRP7):c.1193T>G (p.Leu398Arg) SNV Pathogenic
1592 rs104895548 GRCh37: 19:55450994-55450994
GRCh38: 19:54939626-54939626
7 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2030delT (p.Leu677Profs) DEL Pathogenic
41407 rs104895554 GRCh37: 19:55449511-55449511
GRCh38: 19:54938143-54938143
8 NLRP7 NM_001127255.2(NLRP7):c.1857_1858delAC (p.Lys619Asnfs) DEL Pathogenic
812700 rs2069070395 GRCh37: 19:55450329-55450330
GRCh38: 19:54938961-54938962
9 NLRP7 NM_001127255.2(NLRP7):c.1224_1232delGCGGGGCGCinsT (p.Arg409Alafs) INDEL Pathogenic
997708 rs2069116238 GRCh37: 19:55450955-55450963
GRCh38: 19:54939587-54939595
10 NLRP7 NM_001127255.2(NLRP7):c.336dup (p.Glu113Glyfs) DUP Pathogenic
97796 rs104895553 GRCh37: 19:55452313-55452314
GRCh38: 19:54940945-54940946
11 NLRP7 NM_001127255.1(NLRP7):c.352+1G>A SNV Pathogenic
1584 rs104895504 GRCh37: 19:55452298-55452298
GRCh38: 19:54940930-54940930
12 NLRP7, NCR1 NM_001127255.1(NLRP7):c.2471+1G>A SNV Pathogenic
1585 rs104895505 GRCh37: 19:55445856-55445856
GRCh38: 19:54934488-54934488
13 NLRP7 NM_001127255.2(NLRP7):c.1951C>T (p.Pro651Ser) SNV Pathogenic
1593 rs104895549 GRCh37: 19:55449590-55449590
GRCh38: 19:54938222-54938222
14 NLRP7 NM_001127255.2(NLRP7):c.939_952dup (p.Tyr318Cysfs) DUP Pathogenic
97807 rs104895547 GRCh37: 19:55451234-55451235
GRCh38: 19:54939866-54939867
15 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2248C>G (p.Leu750Val) SNV Pathogenic
97750 rs104895512 GRCh37: 19:55447681-55447681
GRCh38: 19:54936313-54936313
16 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2320_2321insT (p.Thr774Ilefs) INSERT Likely Pathogenic
830330 rs2068825510 GRCh37: 19:55446007-55446008
GRCh38: 19:54934639-54934640
17 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2647C>T (p.Gln883Ter) SNV Likely Pathogenic
1324813 GRCh37: 19:55442030-55442030
GRCh38: 19:54930662-54930662
18 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2011_2012delTT (p.Phe671Glnfs) DEL Likely Pathogenic
1324812 GRCh37: 19:55449529-55449530
GRCh38: 19:54938161-54938162
19 NLRP7 NM_001127255.2(NLRP7):c.531C>T (p.His177=) SNV Conflicting Interpretations Of Pathogenicity
330181 rs746150420 GRCh37: 19:55451656-55451656
GRCh38: 19:54940288-54940288
20 NLRP7 NM_001127255.2(NLRP7):c.1488C>T (p.Asp496=) SNV Uncertain Significance
330168 rs775944680 GRCh37: 19:55450699-55450699
GRCh38: 19:54939331-54939331
21 NLRP7 NM_001127255.2(NLRP7):c.749T>G (p.Phe250Cys) SNV Uncertain Significance
330178 rs78096121 GRCh37: 19:55451438-55451438
GRCh38: 19:54940070-54940070
22 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2788A>T (p.Asn930Tyr) SNV Uncertain Significance
290323 rs201379032 GRCh37: 19:55441889-55441889
GRCh38: 19:54930521-54930521
23 NLRP7 NM_001127255.2(NLRP7):c.835G>T (p.Val279Leu) SNV Uncertain Significance
330177 rs144378653 GRCh37: 19:55451352-55451352
GRCh38: 19:54939984-54939984
24 NLRP7 NM_001127255.2(NLRP7):c.1168C>T (p.Arg390Cys) SNV Uncertain Significance
330171 rs543019983 GRCh37: 19:55451019-55451019
GRCh38: 19:54939651-54939651
25 NLRP7 NM_001127255.2(NLRP7):c.9G>A (p.Ser3=) SNV Uncertain Significance
127264 rs199475821 GRCh37: 19:55453071-55453071
GRCh38: 19:54941703-54941703
26 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2548C>T (p.His850Tyr) SNV Uncertain Significance
330159 rs886054632 GRCh37: 19:55445031-55445031
GRCh38: 19:54933663-54933663
27 NLRP7 NM_001127255.2(NLRP7):c.555C>T (p.Thr185=) SNV Uncertain Significance
330180 rs754428027 GRCh37: 19:55451632-55451632
GRCh38: 19:54940264-54940264
28 NLRP7 NM_001127255.2(NLRP7):c.681C>A (p.Ile227=) SNV Uncertain Significance
330179 rs201456445 GRCh37: 19:55451506-55451506
GRCh38: 19:54940138-54940138
29 NLRP7 NM_001127255.2(NLRP7):c.-49C>T SNV Uncertain Significance
330189 rs886054634 GRCh37: 19:55458846-55458846
GRCh38: 19:54947478-54947478
30 NLRP7 NM_001127255.2(NLRP7):c.99C>T (p.Pro33=) SNV Uncertain Significance
893671 rs145372368 GRCh37: 19:55452981-55452981
GRCh38: 19:54941613-54941613
31 NLRP7 NM_001127255.2(NLRP7):c.930G>T (p.Gln310His) SNV Uncertain Significance
893637 rs145973556 GRCh37: 19:55451257-55451257
GRCh38: 19:54939889-54939889
32 NLRP7 NM_206828.3(NLRP7):c.278-12A>C SNV Uncertain Significance
892858 rs201164207 GRCh37: 19:55452385-55452385
GRCh38: 19:54941017-54941017
33 NLRP7, NCR1 NM_001127255.2(NLRP7):c.2156C>T (p.Ala719Val) SNV Uncertain Significance
97747 rs104895526 GRCh37: 19:55447773-55447773
GRCh38: 19:54936405-54936405
34 NLRP7 NM_001127255.2(NLRP7):c.251G>A (p.Cys84Tyr) SNV Uncertain Significance
97761 rs104895509 GRCh37: 19:55452829-55452829
GRCh38: 19:54941461-54941461
35 NLRP7 NM_001127255.2(NLRP7):c.701T>C (p.Leu234Ser) SNV Uncertain Significance
97805 rs61732584 GRCh37: 19:55451486-55451486
GRCh38: 19:54940118-54940118
36 NLRP7 NM_001127255.2(NLRP7):c.574A>C (p.Met192Leu) SNV Uncertain Significance
97804 rs104895529 GRCh37: 19:55451613-55451613
GRCh38: 19:54940245-54940245
37 NLRP7 NM_206828.3(NLRP7):c.-39-3C>T SNV Uncertain Significance
330188 rs772074527 GRCh37: 19:55453121-55453121
GRCh38: 19:54941753-54941753
38 NLRP7 NM_206828.3(NLRP7):c.352+13G>A SNV Uncertain Significance
330184 rs115894800 GRCh37: 19:55452286-55452286
GRCh38: 19:54940918-54940918
39 NLRP7, NCR1 NM_206828.3(NLRP7):c.2130-2A>G SNV Uncertain Significance
631820 rs764734665 GRCh37: 19:55447801-55447801
GRCh38: 19:54936433-54936433
40 NLRP7, NCR1 NM_139176.3(NLRP7):c.2558+17TG[6] MICROSAT Uncertain Significance
997709 rs112477133 GRCh37: 19:55444907-55444908
GRCh38: 19:54933539-54933540
41 NLRP7 NM_001127255.2(NLRP7):c.1569C>T (p.Phe523=) SNV Uncertain Significance
893608 rs200362946 GRCh37: 19:55450618-55450618
GRCh38: 19:54939250-54939250
42 NLRP7 NM_001127255.2(NLRP7):c.1605G>A (p.Glu535=) SNV Uncertain Significance
893607 rs192107267 GRCh37: 19:55450582-55450582
GRCh38: 19:54939214-54939214
43 NLRP7 NM_001127255.2(NLRP7):c.1614T>A (p.Phe538Leu) SNV Uncertain Significance
893606 rs200193926 GRCh37: 19:55450573-55450573
GRCh38: 19:54939205-54939205
44 NLRP7 NM_001127255.2(NLRP7):c.1762G>A (p.Val588Met) SNV Uncertain Significance
893605 rs146872991 GRCh37: 19:55450425-55450425
GRCh38: 19:54939057-54939057
45 NLRP7 NM_001127255.2(NLRP7):c.1767C>T (p.Ala589=) SNV Uncertain Significance
893604 rs61746602 GRCh37: 19:55450420-55450420
GRCh38: 19:54939052-54939052
46 NLRP7, NCR1 NM_001127255.2(NLRP7):c.3031G>C (p.Val1011Leu) SNV Uncertain Significance
893572 rs540923289 GRCh37: 19:55435191-55435191
GRCh38: 19:54923823-54923823
47 NLRP7, NCR1 NM_001127255.2(NLRP7):c.3068A>G (p.Asn1023Ser) SNV Uncertain Significance
893571 rs1443910848 GRCh37: 19:55435154-55435154
GRCh38: 19:54923786-54923786
48 NLRP7, NCR1 NM_001127255.2(NLRP7):c.3076G>A (p.Gly1026Arg) SNV Uncertain Significance
893570 rs749456317 GRCh37: 19:55435146-55435146
GRCh38: 19:54923778-54923778
49 NLRP7, NCR1 NM_001127255.2(NLRP7):c.*20C>T SNV Uncertain Significance
893568 rs184844567 GRCh37: 19:55435088-55435088
GRCh38: 19:54923720-54923720
50 NLRP7 NM_001127255.2(NLRP7):c.184T>G (p.Ser62Ala) SNV Uncertain Significance
892861 rs1391172061 GRCh37: 19:55452896-55452896
GRCh38: 19:54941528-54941528

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

73
# 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

Cellular components related to Hydatidiform Mole, Recurrent, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pituitary gonadotropin complex GO:0061696 9.02 CGB5 CGB3 CGA

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

# Name GO ID Score Top Affiliating Genes
1 female gamete generation GO:0007292 9.33 CGB5 CGB3
2 negative regulation of phosphorylation GO:0042326 9.26 INHA CDKN1C
3 hormone-mediated signaling pathway GO:0009755 9.02 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 9.17 INHA CGB5 CGB3 CGA

Sources for Hydatidiform Mole, Recurrent, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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35 IUPHAR
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40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
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64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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