MCID: HYD046
MIFTS: 52

Hydatidiform Mole, Recurrent, 1

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

Aliases & Classifications for Hydatidiform Mole, Recurrent, 1

MalaCards integrated aliases for Hydatidiform Mole, Recurrent, 1:

Name: Hydatidiform Mole, Recurrent, 1 57 75 73
Hydatidiform Mole 57 76 53 59 75 29 13 55 6 73
Gestational Trophoblastic Disease 57 76 75 55 73
Complete Hydatidiform Mole 59 75 73
Hydm 57 53 75
Molar Pregnancy 53 59
Hydm1 57 75
Chm 57 75
Mole, Hydatidiform, Recurrent, Type 1 40
Gestational Trophoblastic Neoplasms 73
Hydatidiform Mole, Complete; Chm 57
Hydatidiform Mole, Recurrent, 2 73
Hydatidiform Mole, Complete 57
Complete Molar Pregnancy 59
Hydatidiform Mole; Hydm 57
Hydatid Mole 53

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive


HPO:

32
hydatidiform mole, recurrent, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 231090
UMLS via Orphanet 74 C0678213 C0020217
ICD10 via Orphanet 34 O01.0 O01.1 O01.9
MESH via Orphanet 45 D006828
MeSH 44 D006828
ICD10 33 O01

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)

MalaCards based summary : Hydatidiform Mole, Recurrent, 1, also known as hydatidiform mole, is related to partial hydatidiform mole and gestational trophoblastic neoplasm. 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 liver, and related phenotypes are hyperthyroidism and anemia

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

Wikipedia : 76 Gestational trophoblastic disease (GTD) is a term used for a group of pregnancy-related tumours. These... more...

Related Diseases for Hydatidiform Mole, Recurrent, 1

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

Symptoms via clinical synopsis from OMIM:

57
GU:
gestational trophoblastic disease
hydatidiform mole


Clinical features from OMIM:

231090

Human phenotypes related to Hydatidiform Mole, Recurrent, 1:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperthyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000836
2 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
3 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
4 spontaneous abortion 59 32 hallmark (90%) Very frequent (99-80%) HP:0005268
5 preeclampsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100602
6 enlarged uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0100878
7 menometrorrhagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0400008
8 abnormality of the genitourinary system 32 HP:0000119

Drugs & Therapeutics for Hydatidiform Mole, Recurrent, 1

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

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

Interventional clinical trials:

(show all 24)
# 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 Efficacy, Immunogenicity and Safety of GSK Biologicals' HPV GSK 580299 Vaccine in Healthy Chinese Female Subjects Completed NCT00779766 Phase 3
7 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
8 Dactinomycin or Methotrexate in Treating Patients With Low-Risk Gestational Trophoblastic Neoplasia Active, not recruiting NCT01535053 Phase 3 Leucovorin Calcium;Methotrexate
9 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
10 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
11 Second Curettage in Treating Patients With Persistent Non-metastatic Gestational Trophoblastic Tumors Completed NCT00521118 Phase 2
12 A Trial for Patients With Gestational Trophoblastic Disease Completed NCT00190918 Phase 2 Pemetrexed
13 Avelumab in Chemo-resistant Gestational Trophoblastic Neoplasias Recruiting NCT03135769 Phase 2 Avelumab administration at 10mg/kg
14 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
15 Pemetrexed Disodium in Treating Patients With Recurrent or Persistent Low-Risk Gestational Trophoblastic Tumor After a Molar Pregnancy Terminated NCT00096187 Phase 2 pemetrexed disodium
16 Conformation of Beta Human Chorionic Gonadotropin During Chemotherapy for Choriocarcinoma Unknown status NCT00294177
17 The Effects of Aspirin in Gestation and Reproduction Completed NCT00467363 Not Applicable acetylsalicylic-acid (aspirin)
18 Study of the Genetic and Epigenetic Causes of Recurrent Hydatidiform Moles Recruiting NCT01008501
19 The French National Reference Centre of GTD Recruiting NCT02892877
20 BioThrax® (Anthrax) Vaccine in Pregnancy Registry Recruiting NCT01653392
21 Yervoy Pregnancy Surveillance Study Recruiting NCT02854488 Yervoy
22 Chemoresistance of Trophoblastic Tumors Not yet recruiting NCT03488901
23 Fertility and Obstetric Outcomes After Medical Management Versus Surgical Treatment for First-trimester Miscarriage First-trimester Miscarriage Not yet recruiting NCT03570307 Not Applicable
24 Flucelvax Pregnancy Registry Withdrawn NCT02258178

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 29 NLRP7

Anatomical Context for Hydatidiform Mole, Recurrent, 1

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

41
Placenta, Uterus, Liver, Bone, Lung, Testes, Ovary

Publications for Hydatidiform Mole, Recurrent, 1

Articles related to Hydatidiform Mole, Recurrent, 1:

(show top 50) (show all 306)
# Title Authors Year
1
Clinical and genetic-epignetic aspects of recurrent hydatidiform mole: A review of literature. ( 29458875 )
2018
2
Hysteroscopic Management of Partial Hydatidiform Mole: A Novel Approach to an Old Disease. ( 29631009 )
2018
3
Choriocarcinoma with multiple lung metastases from complete hydatidiform mole with coexistent fetus during pregnancy. ( 29845692 )
2018
4
Is Ki-67 of Diagnostic Value in Distinguishing Between Partial and Complete Hydatidiform Moles? A Systematic Review and Meta-analysis. ( 29374747 )
2018
5
miR-21 Is Overexpressed in Hydatidiform Mole Tissues and Promotes Proliferation, Migration, and Invasion in Choriocarcinoma Cells. ( 27922982 )
2017
6
Role of P57KIP2 Immunohistochemical Expression in Histological Diagnosis of Hydatidiform Moles. ( 27221896 )
2016
7
Trends in ectopic pregnancy, hydatidiform mole and miscarriage in the largest obstetrics and gynaecology hospital in China from 2003 to 2013. ( 27206481 )
2016
8
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride. ( 27898272 )
2016
9
Diginyc partial hydatidiform mole with increased fetal nuchal translucency and ovarian hyperstimulation syndrome. ( 27328519 )
2016
10
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole. ( 27621838 )
2016
11
Expression patterns of ERVWE1/Syncytin-1 and other placentally expressed human endogenous retroviruses along the malignant transformation process of hydatidiform moles. ( 26992684 )
2016
12
E-Cadherin, CD44v6, and Insulin-Like Growth Factor-II mRNA-Binding Protein 3 Expressions in Different Stages of Hydatidiform Moles. ( 27238915 )
2016
13
Histological comparison of partial hydatidiform mole and trisomy gestation specimens. ( 27575970 )
2016
14
A Reappraisal of the Incidence of Placental Hydatidiform Mole Using Selective Molecular Genotyping. ( 27258730 )
2016
15
Solitary lung metastasis from gestational choriocarcinoma resected six years after hydatidiform mole: A case report. ( 27744215 )
2016
16
Clinical Presentation of Complete Hydatidiform Mole and Partial Hydatidiform Mole at a Regional Trophoblastic Disease Center in the United States Over the Past 2 Decades. ( 26588240 )
2016
17
Immunohistochemical Analysis of E-Cadherin, p53 and Inhibin-I+ Expression in Hydatidiform Mole and Hydropic Abortion. ( 26683836 )
2016
18
Medical termination of a partial hydatidiform mole and coexisting fetus during the second trimester: A case report. ( 26788180 )
2015
19
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations. ( 25982095 )
2015
20
Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting. ( 26544189 )
2015
21
Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole. ( 26606510 )
2015
22
Trophoblast subtype-specific EGFR/ERBB4 expression correlates with cell cycle progression and hyperplasia in complete hydatidiform moles. ( 25740878 )
2015
23
[Diagnostic utility of STR genotyping for partial hydatidiform moles]. ( 26888503 )
2015
24
Partial hydatidiform mole with extensive angiomatoid vessel configuration in a first trimester miscarriage. ( 25844548 )
2015
25
Early Detection by Ultrasound of Partial Hydatidiform Mole With a Coexistent Live Fetus. ( 26726342 )
2015
26
NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton. ( 25358348 )
2015
27
Clinical utility of selective molecular genotyping for diagnosis of partial hydatidiform mole; a retrospective study from a regional trophoblastic disease unit. ( 25078332 )
2014
28
Partial hydatidiform mole following intracytoplasmic sperm injection and transfer of a cryopreserved-thawed blastocyst. ( 25093925 )
2014
29
Current clinical features of complete and partial hydatidiform mole in Sweden. ( 24597287 )
2014
30
Rare Case of Twin Pregnancy with Complete Hydatidiform Mole and Coexisting Fetus (CHMF) following Infertility Treatment. ( 25404812 )
2014
31
Utility of fluorescence in situ hybridization for ploidy and p57 immunostaining in discriminating hydatidiform moles. ( 24613849 )
2014
32
Characteristics of hydatidiform moles: analysis of a prospective series with p57 immunohistochemistry and molecular genotyping. ( 23887308 )
2014
33
Rare case of peritoneal complete hydatidiform mole. ( 24428592 )
2014
34
In patients with neoplasia after partial hydatidiform mole immunohistochemistry or genotyping is essential to differentiate partial hydatidiform mole from complete mole, histologic examination is insufficient. ( 25340289 )
2014
35
Partial hydatidiform mole diagnosis in a cat: a case report. ( 23817014 )
2014
36
Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage? ( 23880596 )
2013
37
Placental expression of VEGF is increased in pregnancies with hydatidiform mole: possible association with developing very early onset preeclampsia. ( 23522390 )
2013
38
Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. ( 23125094 )
2013
39
Partial hydatidiform mole: histologic parameters in correlation with DNA genotyping. ( 23518914 )
2013
40
Partial hydatidiform mole and coexisting viable twin pregnancy. ( 24300477 )
2013
41
Pemphigoid gestationis after spontaneous expulsion of a massive complete hydatidiform mole. ( 24083041 )
2013
42
Ultrasonographic signs of partial hydatidiform mole. ( 23848045 )
2013
43
The impact of ultrasonographic lesion size and initial human chorionic gonadotropin values on treatment success in cases with complete hydatidiform mole. ( 24379071 )
2013
44
No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles. ( 24105752 )
2013
45
Partial Hydatidiform Mole With False-Negative Urine Human Chorionic Gonadatropin Test in the Emergency Department. ( 24188605 )
2013
46
Differential expression of E-cadherin, I^-catenin, and Lewis x between invasive hydatidiform moles and post-molar choriocarcinomas. ( 23681114 )
2013
47
Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations. ( 23201303 )
2013
48
Absence of KHDC3L mutations in Chinese patients with recurrent and sporadic hydatidiform moles. ( 24215781 )
2013
49
Tetraploidy in hydatidiform moles. ( 23633551 )
2013
50
Altered p16 and Bcl-2 expression reflects pathologic development in hydatidiform moles and choriocarcinoma. ( 23065465 )
2013

Variations for Hydatidiform Mole, Recurrent, 1

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

75
# 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 118)
# 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 KHDC3L NM_001017361.2(KHDC3L): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs606231233 GRCh38 Chromosome 6, 73362732: 73362732
21 KHDC3L NM_001017361.2(KHDC3L): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs606231233 GRCh37 Chromosome 6, 74072455: 74072455
22 KHDC3L NM_001017361.2(KHDC3L): c.322_325delGACT (p.Asp108Ilefs) deletion Pathogenic rs606231234 GRCh38 Chromosome 6, 73363247: 73363250
23 KHDC3L NM_001017361.2(KHDC3L): c.322_325delGACT (p.Asp108Ilefs) deletion Pathogenic rs606231234 GRCh37 Chromosome 6, 74072970: 74072973
24 KHDC3L NM_001017361.2(KHDC3L): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs606231235 GRCh38 Chromosome 6, 73362730: 73362730
25 KHDC3L NM_001017361.2(KHDC3L): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs606231235 GRCh37 Chromosome 6, 74072453: 74072453
26 NLRP7 NLRP7, 14-BP DUP, NT939 duplication Pathogenic
27 NLRP7 NM_001127255.1(NLRP7): c.2030delT (p.Leu677Profs) deletion Pathogenic rs104895554 GRCh37 Chromosome 19, 55449511: 55449511
28 NLRP7 NM_001127255.1(NLRP7): c.2030delT (p.Leu677Profs) deletion Pathogenic rs104895554 GRCh38 Chromosome 19, 54938143: 54938143
29 NLRP7 NM_001127255.1(NLRP7): c.337_338insG (p.Glu113Glyfs) insertion Pathogenic rs104895553 GRCh37 Chromosome 19, 55452314: 55452314
30 NLRP7 NM_001127255.1(NLRP7): c.337_338insG (p.Glu113Glyfs) insertion Pathogenic rs104895553 GRCh38 Chromosome 19, 54940946: 54940946
31 KHDC3L NM_001017361.2(KHDC3L): c.299_302delTCAA (p.Ile100Argfs) deletion Pathogenic rs606231286 GRCh38 Chromosome 6, 73363224: 73363227
32 KHDC3L NM_001017361.2(KHDC3L): c.299_302delTCAA (p.Ile100Argfs) deletion Pathogenic rs606231286 GRCh37 Chromosome 6, 74072947: 74072950
33 KHDC3L NM_001017361.2(KHDC3L): c.334C> T (p.Gln112Ter) single nucleotide variant Likely pathogenic rs745776920 GRCh37 Chromosome 6, 74072982: 74072982
34 KHDC3L NM_001017361.2(KHDC3L): c.334C> T (p.Gln112Ter) single nucleotide variant Likely pathogenic rs745776920 GRCh38 Chromosome 6, 73363259: 73363259
35 NLRP7 NM_206828.3(NLRP7): c.1441G> A (p.Ala481Thr) single nucleotide variant Benign/Likely benign rs61747414 GRCh37 Chromosome 19, 55450746: 55450746
36 NLRP7 NM_206828.3(NLRP7): c.1441G> A (p.Ala481Thr) single nucleotide variant Benign/Likely benign rs61747414 GRCh38 Chromosome 19, 54939378: 54939378
37 NLRP7 NM_206828.3(NLRP7): c.1082C> T (p.Ser361Leu) single nucleotide variant Uncertain significance rs143169084 GRCh37 Chromosome 19, 55451105: 55451105
38 NLRP7 NM_206828.3(NLRP7): c.1082C> T (p.Ser361Leu) single nucleotide variant Uncertain significance rs143169084 GRCh38 Chromosome 19, 54939737: 54939737
39 NLRP7 NM_206828.3(NLRP7): c.2788A> T (p.Asn930Tyr) single nucleotide variant Uncertain significance rs201379032 GRCh37 Chromosome 19, 55441889: 55441889
40 NLRP7 NM_206828.3(NLRP7): c.2788A> T (p.Asn930Tyr) single nucleotide variant Uncertain significance rs201379032 GRCh38 Chromosome 19, 54930521: 54930521
41 NLRP7 NM_206828.3(NLRP7): c.1460G> A (p.Gly487Glu) single nucleotide variant Benign/Likely benign rs775881 GRCh37 Chromosome 19, 55450727: 55450727
42 NLRP7 NM_206828.3(NLRP7): c.1460G> A (p.Gly487Glu) single nucleotide variant Benign/Likely benign rs775881 GRCh38 Chromosome 19, 54939359: 54939359
43 NLRP7 NM_206828.3(NLRP7): c.*5C> T single nucleotide variant Uncertain significance rs115724298 GRCh37 Chromosome 19, 55435103: 55435103
44 NLRP7 NM_206828.3(NLRP7): c.*5C> T single nucleotide variant Uncertain significance rs115724298 GRCh38 Chromosome 19, 54923735: 54923735
45 NLRP7 NM_206828.3(NLRP7): c.2775A> G (p.Ala925=) single nucleotide variant Benign/Likely benign rs269950 GRCh37 Chromosome 19, 55441902: 55441902
46 NLRP7 NM_206828.3(NLRP7): c.2775A> G (p.Ala925=) single nucleotide variant Benign/Likely benign rs269950 GRCh38 Chromosome 19, 54930534: 54930534
47 NLRP7 NM_206828.3(NLRP7): c.2548C> T (p.His850Tyr) single nucleotide variant Uncertain significance rs886054632 GRCh37 Chromosome 19, 55445031: 55445031
48 NLRP7 NM_206828.3(NLRP7): c.2548C> T (p.His850Tyr) single nucleotide variant Uncertain significance rs886054632 GRCh38 Chromosome 19, 54933663: 54933663
49 NLRP7 NM_206828.3(NLRP7): c.2384G> A (p.Arg795His) single nucleotide variant Uncertain significance rs200965650 GRCh37 Chromosome 19, 55445944: 55445944
50 NLRP7 NM_206828.3(NLRP7): c.2384G> A (p.Arg795His) single nucleotide variant Uncertain significance rs200965650 GRCh38 Chromosome 19, 54934576: 54934576

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 regulation of signaling receptor activity GO:0010469 9.43 CGA CGB3 CGB5
2 cell-cell signaling GO:0007267 9.33 CGA CGB3 CGB5
3 female gamete generation GO:0007292 8.96 CGB3 CGB5
4 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 8.62 CGA CGB3

Sources for Hydatidiform Mole, Recurrent, 1

3 CDC
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10 dbSNP
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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