HYDM1
MCID: HYD046
MIFTS: 56

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

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.

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.

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

Diseases in the Recurrent Hydatidiform Mole family:

Hydatidiform Mole, Recurrent, 1 Hydatidiform Mole, Recurrent, 2

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

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 partial hydatidiform mole 34.6 KHDC3L NLRP7
2 placental site trophoblastic tumor 32.3 CGB3 CGB5
3 gestational trophoblastic neoplasm 31.8 CDKN1C H19 KHDC3L NLRP7 PHLDA2
4 choriocarcinoma 31.0 CGA CGB3 CGB5 H19
5 triploidy 30.7 CGA KHDC3L NLRP7
6 ectopic pregnancy 30.5 CGA CGB3 CGB5
7 chromosomal triplication 30.4 CGA CGB3
8 trophoblastic neoplasm 30.3 CDKN1C CGA H19 KHDC3L NLRP7
9 mixed germ cell tumor 29.7 CGA CGB3
10 teratoma 29.6 CGA CGB3
11 recurrent hydatidiform mole 12.9
12 invasive mole 12.1
13 gestational trophoblastic tumor 12.0
14 pulmonary arterio-veinous fistula 11.2
15 hydatidiform mole, recurrent, 2 11.1
16 hyperthyroidism, familial gestational 11.0
17 hyperthyroidism 10.7
18 eclampsia 10.6
19 pre-eclampsia 10.4
20 placenta praevia 10.4
21 severe pre-eclampsia 10.4
22 gestational choriocarcinoma 10.4
23 herpes gestationis 10.3
24 infertility 10.3
25 anencephaly 10.2
26 choroideremia 10.2
27 ovarian hyperstimulation syndrome 10.2
28 pemphigus gestationis 10.2
29 thrombosis 10.2
30 endometritis 10.2
31 sarcoma 10.2
32 endometriosis of ovary 10.2
33 nephrotic syndrome 10.2
34 ulceration of vulva 10.2
35 acromegaly 10.2
36 endometriosis 10.2
37 arthropathy 10.2
38 dysgerminoma 10.2
39 placenta accreta 10.2
40 ovarian cyst 10.2
41 adenoma 10.2
42 pemphigoid gestationis 10.2
43 tetraploidy 10.2
44 diabetes mellitus, transient neonatal, 1 10.1 KHDC3L NLRP7
45 hemihyperplasia, isolated 10.1 CDKN1C H19
46 preeclampsia/eclampsia 1 10.1
47 breast cancer 10.1
48 milia, multiple eruptive 10.1
49 pelger-huet anomaly 10.1
50 thrombophilia due to thrombin defect 10.1

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
G U:
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 nausea and vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002017
2 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
3 hyperthyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000836
4 preeclampsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100602
5 spontaneous abortion 59 32 hallmark (90%) Very frequent (99-80%) HP:0005268
6 menometrorrhagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0400008
7 enlarged uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0100878
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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitroglycerin Approved, Investigational Phase 4,Phase 2 55-63-0 4510
2
leucovorin Approved Phase 3,Phase 2 58-05-9 6006 143
3
Methotrexate Approved Phase 3,Phase 2 59-05-2, 1959-05-2 126941
4
Dactinomycin Approved, Investigational Phase 3 50-76-0 457193 2019
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 59-30-3 6037
8 Nucleic Acid Synthesis Inhibitors Phase 3,Phase 2
9 Vitamin B9 Phase 3,Phase 2
10 Immunologic Factors Phase 3,Phase 2
11 Liver Extracts Phase 3
12 Vitamin B Complex Phase 3,Phase 2
13 Immunosuppressive Agents Phase 3,Phase 2
14 Folic Acid Antagonists Phase 3,Phase 2
15 Micronutrients Phase 3,Phase 2
16 Antirheumatic Agents Phase 3,Phase 2
17 Antimetabolites Phase 3,Phase 2
18 Folate Phase 3,Phase 2
19 Hematinics Phase 3,Phase 2
20 Trace Elements Phase 3,Phase 2
21 Vitamins Phase 3,Phase 2
22 Antimetabolites, Antineoplastic Phase 3,Phase 2
23 Dermatologic Agents Phase 3,Phase 2
24 Anti-Bacterial Agents Phase 3
25 Antibiotics, Antitubercular Phase 3
26 Anti-Infective Agents Phase 3
27 Radiation-Protective Agents Phase 3
28 Protective Agents Phase 3,Phase 2
29 Bone Density Conservation Agents Phase 3,Phase 2
30 Calcium, Dietary Phase 3
31 Antidotes Phase 3,Phase 2
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 Immunoglobulins Phase 2
37 Antibodies, Monoclonal Phase 2
38 Chorionic Gonadotropin
39 Vaccines

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Comparison of Single Versus Double Evacuation for Treatment of Hydatidiform Mole Recruiting NCT01630954 Phase 4
2 RCT on the Efficacy of Methotrexate for the Prevention of GTD Completed NCT01984099 Phase 3 Methotrexate;Vitamin B Complex
3 Methotrexate Compared With Dactinomycin in Treating Patients With Gestational Trophoblastic Neoplasia Completed NCT00003702 Phase 3 Methotrexate
4 Amifostine in Treating Peripheral Neuropathy in Patients Who Have Received Chemotherapy for Cancer Completed NCT00058071 Phase 3 amifostine trihydrate
5 Dactinomycin or Methotrexate in Treating Patients With Low-Risk Gestational Trophoblastic Neoplasia Active, not recruiting NCT01535053 Phase 3 Leucovorin Calcium;Methotrexate
6 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
7 Second Curettage in Treating Patients With Persistent Non-metastatic Gestational Trophoblastic Tumors Completed NCT00521118 Phase 2
8 A Trial for Patients With Gestational Trophoblastic Disease Completed NCT00190918 Phase 2 Pemetrexed
9 Avelumab in Chemo-resistant Gestational Trophoblastic Neoplasias Recruiting NCT03135769 Phase 2 Avelumab administration at 10mg/kg
10 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
11 Conformation of Beta Human Chorionic Gonadotropin During Chemotherapy for Choriocarcinoma Unknown status NCT00294177
12 Study of the Genetic and Epigenetic Causes of Recurrent Hydatidiform Moles Recruiting NCT01008501
13 Study of Different Therapeutic Strategies in Hydatidiform Mole With Lung Nodule Recruiting NCT03785574 Not Applicable chemotherapy
14 The French National Reference Centre of GTD Recruiting NCT02892877
15 BioThrax® (Anthrax) Vaccine in Pregnancy Registry Recruiting NCT01653392
16 Chemoresistance of Trophoblastic Tumors Not yet recruiting NCT03488901

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, Testes, Lung, Thyroid, Liver, Ovary

Publications for Hydatidiform Mole, Recurrent, 1

Articles related to Hydatidiform Mole, Recurrent, 1:

(show top 50) (show all 1025)
# 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
Multiple metastatic gestational trophoblastic disease after a twin pregnancy with complete hydatidiform mole and coexisting fetus, following assisted reproductive technology: Case report and literature review. ( 30122584 )
2018
5
Hydatidiform mole: validity of the registration in the Danish National Patient Registry, the Danish Cancer Registry, and the Danish Pathology Registry 1999-2009. ( 30271218 )
2018
6
Ultrasound and MRI Findings of Twin Pregnancies with Complete Hydatidiform Mole and Coexisting Normal Fetus: Two Case Reports. ( 30282891 )
2018
7
Correction to: ''Bunch of grapes'' in complete hydatidiform mole. ( 30284604 )
2018
8
DNA Genotyping of Nonmolar Donor Egg Pregnancies With Abnormal Villous Morphology: Allele Zygosity Patterns Prevent Misinterpretation as Complete Hydatidiform Mole. ( 28463912 )
2018
9
New insights in the pathophysiology of complete hydatidiform mole. ( 29405964 )
2018
10
A fetus coexisting with a complete hydatidiform mole with trisomy 9 of maternal origin. ( 29436108 )
2018
11
Temporal trends in incidence and outcome of hydatidiform mole: a retrospective cohort study. ( 29451409 )
2018
12
Does a human chorionic gonadotropin level of over 20,000 IU/L four weeks after uterine evacuation for complete hydatidiform mole constitute an indication for chemotherapy for gestational trophoblastic neoplasia? ( 29477553 )
2018
13
A 34-Week Size Uterus with a Complete Hydatidiform Mole: Hook Effect and Severe Anemia with No Vaginal Bleeding. ( 29670785 )
2018
14
Recurrent complete hydatidiform mole: where we are, is there a safe gestational horizon? Opinion and mini-review. ( 29737470 )
2018
15
Accuracy of p57KIP2 compared with genotyping to diagnose complete hydatidiform mole: a systematic review and meta-analysis. ( 29782064 )
2018
16
Prevalence and Factors Associated with Hydatidiform Mole among Patients Undergoing Uterine Evacuation at Mbarara Regional Referral Hospital. ( 29805452 )
2018
17
Invasive hydatidiform mole in the cervix. ( 29875909 )
2018
18
p57KIP2 immunostaining for diagnosis of hydatidiform mole. ( 29904999 )
2018
19
miR-21 Is Overexpressed in Hydatidiform Mole Tissues and Promotes Proliferation, Migration, and Invasion in Choriocarcinoma Cells. ( 27922982 )
2017
20
Prenatal Diagnosis of Twin Pregnancies with Complete Hydatidiform Mole and Coexistent Normal Fetus: A Series of 13 Cases. ( 27522447 )
2017
21
"Bunch of grapes" in complete hydatidiform mole. ( 27933479 )
2017
22
Role of Surgery in the Management of Hydatidiform Mole in Elderly Patients: A Single-Center Clinical Experience. ( 28129241 )
2017
23
HDLive Silhouette Inversion Mode in Diagnosis of Complete Hydatidiform Mole. ( 28133778 )
2017
24
Complete hydatidiform mole with co-existing fetus: Predictors of live birth. ( 28301807 )
2017
25
F10, a novel hydatidiform mole-associated gene, inhibits the paclitaxel sensitivity of A549 lung cancer cells by downregulating BAX and caspase-3. ( 28454434 )
2017
26
Uterine artery Doppler flow velocimetry parameters for predicting gestational trophoblastic neoplasia after complete hydatidiform mole, a prospective cohort study. ( 28591340 )
2017
27
Establishment and characterization of cell lines derived from complete hydatidiform mole. ( 28713902 )
2017
28
Molecular Diagnosis of Placental Hydatidiform Mole: Innovation and Outcomes. ( 28757408 )
2017
29
18F-FDG PET/CT Demonstrating Chorioadenoma Destruens After Evacuation of Complete Hydatidiform Mole. ( 28759528 )
2017
30
Heterotopic Pregnancy Including Intrauterine Normal Gestation and Tubal Complete Hydatidiform Mole: A Case Report and Review of the Literature. ( 28800576 )
2017
31
Prophylactic chemotherapy for hydatidiform mole to prevent gestational trophoblastic neoplasia. ( 28892119 )
2017
32
An unexpected invasive hydatidiform mole in a rudimentary uterine horn: A case report. ( 28927039 )
2017
33
Challenges in the Routine Praxis Diagnosis of Hydatidiform Mole: a Tertiary Health Center Experience. ( 28974845 )
2017
34
Risk Factors for Hydatidiform Mole: Is Husband’s Job a Major Risk Factor? ( 29072060 )
2017
35
Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women. ( 29088863 )
2017
36
Comparison of different therapeutic strategies for complete hydatidiform mole in women at least 40 years old: a retrospective cohort study. ( 29121880 )
2017
37
A twin pregnancy with a hydatidiform mole and a coexisting live fetus: prenatal diagnosis, treatment, and follow-up. ( 29375907 )
2017
38
May supplementation of coenzyme Q10 help prevent development of hydatidiform mole?. ( 29949281 )
2017
39
Unusual twin pregnancy: complete hydatidiform mole with coexistent normal fetus. ( 29949305 )
2017
40
Trends in ectopic pregnancy, hydatidiform mole and miscarriage in the largest obstetrics and gynaecology hospital in China from 2003 to 2013. ( 27206481 )
2016
41
Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride. ( 27898272 )
2016
42
Diginyc partial hydatidiform mole with increased fetal nuchal translucency and ovarian hyperstimulation syndrome. ( 27328519 )
2016
43
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole. ( 27621838 )
2016
44
Histological comparison of partial hydatidiform mole and trisomy gestation specimens. ( 27575970 )
2016
45
A Reappraisal of the Incidence of Placental Hydatidiform Mole Using Selective Molecular Genotyping. ( 27258730 )
2016
46
Solitary lung metastasis from gestational choriocarcinoma resected six years after hydatidiform mole: A case report. ( 27744215 )
2016
47
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
48
Choriocarcinoma in Situ in a Partial Hydatidiform Mole A: Case Report. ( 30408390 )
2016
49
Hydatidiform mole with uncontrolled hyperthyroidism: An anesthetic challenge. ( 28096596 )
2016
50
Can circulating M30 and M65 levels be beneficial markers in the diagnosis and management of patients with complete hydatidiform mole? ( 25869758 )
2016

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 320)
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP7 NLRP7, 1-BP INS, 337G insertion Pathogenic
2 NLRP7 NM_001127255.1(NLRP7): c.1294C> T (p.Arg432Ter) single nucleotide variant Pathogenic rs104895530 GRCh37 Chromosome 19, 55450893: 55450893
3 NLRP7 NM_001127255.1(NLRP7): c.1294C> T (p.Arg432Ter) single nucleotide variant Pathogenic rs104895530 GRCh38 Chromosome 19, 54939525: 54939525
4 NLRP7 NM_001127255.1(NLRP7): c.352+1G> A single nucleotide variant Pathogenic rs104895504 GRCh37 Chromosome 19, 55452298: 55452298
5 NLRP7 NM_001127255.1(NLRP7): c.352+1G> A single nucleotide variant Pathogenic rs104895504 GRCh38 Chromosome 19, 54940930: 54940930
6 NLRP7 NM_001127255.1(NLRP7): c.2471+1G> A single nucleotide variant Pathogenic rs104895505 GRCh37 Chromosome 19, 55445856: 55445856
7 NLRP7 NM_001127255.1(NLRP7): c.2471+1G> A single nucleotide variant Pathogenic rs104895505 GRCh38 Chromosome 19, 54934488: 54934488
8 NLRP7 NM_001127255.1(NLRP7): c.2077C> T (p.Arg693Trp) single nucleotide variant Pathogenic rs104895506 GRCh37 Chromosome 19, 55449464: 55449464
9 NLRP7 NM_001127255.1(NLRP7): c.2077C> T (p.Arg693Trp) single nucleotide variant Pathogenic rs104895506 GRCh38 Chromosome 19, 54938096: 54938096
10 NLRP7 NM_001127255.1(NLRP7): c.2078G> C (p.Arg693Pro) single nucleotide variant Pathogenic rs104895502 GRCh37 Chromosome 19, 55449463: 55449463
11 NLRP7 NM_001127255.1(NLRP7): c.2078G> C (p.Arg693Pro) single nucleotide variant Pathogenic rs104895502 GRCh38 Chromosome 19, 54938095: 54938095
12 NLRP7 NM_001127255.1(NLRP7): c.2738A> G (p.Asn913Ser) single nucleotide variant Pathogenic rs104895503 GRCh37 Chromosome 19, 55441939: 55441939
13 NLRP7 NM_001127255.1(NLRP7): c.2738A> G (p.Asn913Ser) single nucleotide variant Pathogenic rs104895503 GRCh38 Chromosome 19, 54930571: 54930571
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.1931+176G> T single nucleotide variant not provided rs104895533 GRCh38 Chromosome 19, 54938712: 54938712
30 NLRP7 NM_001127255.1(NLRP7): c.-39-387_2129+265dup duplication not provided rs104895514 GRCh37 Chromosome 19, 55449147: 55453505
31 NLRP7 NM_001127255.1(NLRP7): c.-39-387_2129+265dup duplication not provided rs104895514 GRCh38 Chromosome 19, 54937779: 54942137
32 NLRP7 NM_001127255.1(NLRP7): c.-39-427T> C single nucleotide variant not provided rs104895519 GRCh37 Chromosome 19, 55453545: 55453545
33 NLRP7 NM_001127255.1(NLRP7): c.-39-427T> C single nucleotide variant not provided rs104895519 GRCh38 Chromosome 19, 54942177: 54942177
34 NLRP7 NM_001127255.1(NLRP7): c.1137G> C (p.Lys379Asn) single nucleotide variant not provided rs10418277 GRCh37 Chromosome 19, 55451050: 55451050
35 NLRP7 NM_001127255.1(NLRP7): c.1137G> C (p.Lys379Asn) single nucleotide variant not provided rs10418277 GRCh38 Chromosome 19, 54939682: 54939682
36 NLRP7 NM_001127255.1(NLRP7): c.1138G> C (p.Gly380Arg) single nucleotide variant not provided rs104895557 GRCh37 Chromosome 19, 55451049: 55451049
37 NLRP7 NM_001127255.1(NLRP7): c.1138G> C (p.Gly380Arg) single nucleotide variant not provided rs104895557 GRCh38 Chromosome 19, 54939681: 54939681
38 NLRP7 NM_001127255.1(NLRP7): c.1196G> A (p.Cys399Tyr) single nucleotide variant not provided rs104895510 GRCh37 Chromosome 19, 55450991: 55450991
39 NLRP7 NM_001127255.1(NLRP7): c.1196G> A (p.Cys399Tyr) single nucleotide variant not provided rs104895510 GRCh38 Chromosome 19, 54939623: 54939623
40 NLRP7 NM_001127255.1(NLRP7): c.1302C> T (p.Asp434=) single nucleotide variant Uncertain significance rs104895545 GRCh37 Chromosome 19, 55450885: 55450885
41 NLRP7 NM_001127255.1(NLRP7): c.1302C> T (p.Asp434=) single nucleotide variant Uncertain significance rs104895545 GRCh38 Chromosome 19, 54939517: 54939517
42 NLRP7 NM_001127255.1(NLRP7): c.1456dupG (p.Glu486Glyfs) duplication not provided rs104895559 GRCh37 Chromosome 19, 55450731: 55450731
43 NLRP7 NM_001127255.1(NLRP7): c.1456dupG (p.Glu486Glyfs) duplication not provided rs104895559 GRCh38 Chromosome 19, 54939363: 54939363
44 NLRP7 NM_001127255.1(NLRP7): c.1708G> T (p.Glu570Ter) single nucleotide variant not provided rs104895544 GRCh37 Chromosome 19, 55450479: 55450479
45 NLRP7 NM_001127255.1(NLRP7): c.1708G> T (p.Glu570Ter) single nucleotide variant not provided rs104895544 GRCh38 Chromosome 19, 54939111: 54939111
46 NLRP7 NM_001127255.1(NLRP7): c.183delC (p.Ser62Profs) deletion not provided rs104895546 GRCh37 Chromosome 19, 55452897: 55452897
47 NLRP7 NM_001127255.1(NLRP7): c.183delC (p.Ser62Profs) deletion not provided rs104895546 GRCh38 Chromosome 19, 54941529: 54941529
48 NLRP7 NM_001127255.1(NLRP7): c.1931+110T> C single nucleotide variant not provided rs11879109 GRCh37 Chromosome 19, 55450146: 55450146
49 NLRP7 NM_001127255.1(NLRP7): c.1931+110T> C single nucleotide variant not provided rs11879109 GRCh38 Chromosome 19, 54938778: 54938778
50 NLRP7 NM_001127255.1(NLRP7): c.1931+176G> T single nucleotide variant not provided rs104895533 GRCh37 Chromosome 19, 55450080: 55450080

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 hormone-mediated signaling pathway GO:0009755 9.16 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
7 CNVD
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10 dbSNP
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