FRHM
MCID: RCR026
MIFTS: 28

Recurrent Hydatidiform Mole (FRHM)

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

Aliases & Classifications for Recurrent Hydatidiform Mole

MalaCards integrated aliases for Recurrent Hydatidiform Mole:

Name: Recurrent Hydatidiform Mole 20 43
Familial Recurrent Hydatidiform Mole 20 43
Frhm 20 43
Recurrent Gestational Trophoblastic Tumor 70
Recurrent Androgenetic Hydatidiform Mole 43
Recurrent Biparental Hydatidiform Mole 43
Familial Biparental Hydatidiform Mole 20
Mole, Hydatidiform, Recurrent 39
Recurrent Hydatidiform Moles 36
Hydatidiform Mole, Recurrent 29

Classifications:



External Ids:

KEGG 36 H00289
UMLS 70 C0278796

Summaries for Recurrent Hydatidiform Mole

MedlinePlus Genetics : 43 Recurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles. A hydatidiform mole is a mass that forms early in pregnancy and is made up of cells from an abnormally developed embryo and placenta. Normally, the embryo would develop into a fetus and the placenta would grow to provide nutrients to the growing fetus. When a hydatidiform mole occurs once, it is known as sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole.The first symptom of a hydatidiform mole is often vaginal bleeding in the first trimester of pregnancy. During an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes.Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind will continue to grow and become a cancerous (malignant) tumor called a persistent mole. If the tumor invades the surrounding tissue of the uterus, it is called an invasive mole. In rare cases, this malignant tumor can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.

MalaCards based summary : Recurrent Hydatidiform Mole, also known as familial recurrent hydatidiform mole, is related to hydatidiform mole, recurrent, 1 and gestational trophoblastic neoplasm. An important gene associated with Recurrent Hydatidiform Mole is NLRP7 (NLR Family Pyrin Domain Containing 7), and among its related pathways/superpathways is NOD-like receptor signaling pathway. The drugs Dactinomycin and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include placenta, uterus and liver.

KEGG : 36 Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occuring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is higher in other areas in the world. Recurrent hydatidiform mole (RHM), the familial cases of the disease, is an autosomal recessive disorder in which molar tissues are diploid and have a biparental contribution to their genome. The molar tissues show abnormal epigenetic marking of maternal imprinted genes. Affected women have biallelic mutations in the NLRP7 gene (NALP7), a gene thought to be involved in inflammatory and apoptotic pathways.

Related Diseases for Recurrent Hydatidiform Mole

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



Diseases related to Recurrent Hydatidiform Mole

Symptoms & Phenotypes for Recurrent Hydatidiform Mole

Drugs & Therapeutics for Recurrent Hydatidiform Mole

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dactinomycin Approved, Investigational Phase 2 50-76-0 2019 457193
2
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
3
Pemetrexed Approved, Investigational Phase 2 150399-23-8, 137281-23-3 60843 446556
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5 Antibiotics, Antitubercular Phase 2
6 Anti-Bacterial Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Vitamin B9 Phase 2
9 Folic Acid Antagonists Phase 2
10 Folate Phase 2
11 Vitamin B Complex Phase 2
12
Sargramostim Approved, Investigational Phase 1 123774-72-1, 83869-56-1
13
Etoposide Approved Phase 1 33419-42-0 36462
14
Ifosfamide Approved Phase 1 3778-73-2 3690
15
Lenograstim Approved, Investigational Phase 1 135968-09-1
16
Carboplatin Approved Phase 1 41575-94-4 10339178 498142 38904
17
Camptothecin Experimental Phase 1 7689-03-4
18
Molgramostim Investigational Phase 1 99283-10-0
19 Cola Phase 1
20 interferons Phase 1
21 Interferon-beta Phase 1
22 Liver Extracts Phase 1
23 Etoposide phosphate Phase 1
24 Alkylating Agents Phase 1
25 Adjuvants, Immunologic Phase 1
26 Immunologic Factors Phase 1
27
Isophosphamide mustard Phase 1 100427

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pulse Actinomycin-D as Salvage Therapy for Failed Low Risk Gestational Trophoblastic Neoplasia Completed NCT00003688 Phase 2
2 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
3 A Phase I Clinical Trial of Intrapleural Adenoviral-Mediated Interferon-beta (IFN-ß) Gene Transfer for Pleural Malignancies Completed NCT00066404 Phase 1
4 Phase I Study of Intraperitoneal Administration of 9-Amino-20(S)-Camptothecin to Patients With Cancer Predominantly Confined to the Peritoneal Cavity Completed NCT00003548 Phase 1 aminocamptothecin colloidal dispersion
5 A Phase I Study of Thrombopoietin (rhTPO) Plus G-CSF in Children Receiving Ifosfamide, Carboplatin, and Etoposide (I.C.E.) Chemotherapy for Recurrent or Refractory Solid Tumors Completed NCT00003597 Phase 1 carboplatin;etoposide;ifosfamide
6 Genetic Studies in Gestational Trophoblastic Disease Recruiting NCT01008501

Search NIH Clinical Center for Recurrent Hydatidiform Mole

Genetic Tests for Recurrent Hydatidiform Mole

Genetic tests related to Recurrent Hydatidiform Mole:

# Genetic test Affiliating Genes
1 Hydatidiform Mole, Recurrent 29

Anatomical Context for Recurrent Hydatidiform Mole

MalaCards organs/tissues related to Recurrent Hydatidiform Mole:

40
Placenta, Uterus, Liver, Monocytes

Publications for Recurrent Hydatidiform Mole

Articles related to Recurrent Hydatidiform Mole:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants. 61
33252287 2020
2
Abnormal processing of IL-1β in NLRP7-mutated monocytes in hydatidiform mole patients. 61
32484253 2020
3
Which One Is More Prominent in Recurrent Hydatidiform Mole, Ovum or Sperm? 61
32681629 2020
4
A KHDC3L mutation resulting in recurrent hydatidiform mole causes genome-wide DNA methylation loss in oocytes and persistent imprinting defects post-fertilisation. 61
31847873 2019
5
Reliability of a new dynamic ultrasound test for quantifying first-ray mobility. 61
31130347 2019
6
A Novel Mutation in NLRP7 Related to Recurrent Hydatidiform Mole and Reproductive Failure. 61
31037924 2019
7
Clinical and genetic-epignetic aspects of recurrent hydatidiform mole: A review of literature. 61
29458875 2018
8
NLRP7 contributes to in vitro decidualization of endometrial stromal cells. 61
28810880 2017
9
Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization. 61
28428943 2017
10
A Novel Genetic Mutation in a Patient With Recurrent Biparental Complete Hydatidiform Mole: A Brief Report. 61
27465884 2016
11
Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole. 61
26606510 2016
12
Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole. 61
27621838 2016
13
Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting. 61
26544189 2015
14
Gestational trophoblastic diseases - clinical guidelines for diagnosis, treatment, follow-up, and counselling. 61
26522484 2015
15
Risk of recurrent molar pregnancies following complete and partial hydatidiform moles. 61
26202916 2015
16
Live births in women with recurrent hydatidiform mole and two NLRP7 mutations. 61
25982095 2015
17
First-trimester molecular diagnosis of complete hydatidiform mole associated with dizygotic twin pregnancy conceived by intrauterine insemination. 61
25510703 2014
18
NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly. 61
25082979 2014
19
Subsequent pregnancy outcomes after complete and partial molar pregnancy, recurrent molar pregnancy, and gestational trophoblastic neoplasia: an update from the New England Trophoblastic Disease Center. 61
24937955 2014
20
Novel NLRP7 mutations in familial recurrent hydatidiform mole: are NLRP7 mutations a risk for recurrent reproductive wastage? 61
23880596 2013
21
Mutations in NLRP7 and KHDC3L confer a complete hydatidiform mole phenotype on digynic triploid conceptions. 61
23125094 2013
22
Histopathological features of biparental complete hydatidiform moles in women with NLRP7 mutations. 61
23201303 2013
23
Mosaic moles and non-familial biparental moles are not caused by mutations in NLRP7, NLRP2 or C6orf221. 61
22909446 2012
24
Recurrent hydatidiform mole: detection of two novel mutations in the NLRP7 gene in two Egyptian families. 61
22770628 2012
25
NLRP7 mutation analysis in sporadic hydatidiform moles in Tunisian patients: NLRP7 and sporadic mole. 61
22646272 2012
26
Recurrent familial hydatidiform mole - a rare clinical problem. 61
24592059 2012
27
Recurrent hydatidiform mole: A case report of six consecutive molar pregnancies complicated by choriocarcinoma, and review of the literature. 61
22175045 2011
28
[Family pedigree analysis in family member with history of hydatidiform mole and the NLRP7 gene expression]. 61
22169519 2011
29
The spectrum of NLRP7 mutations in French patients with recurrent hydatidiform mole. 61
21439709 2011
30
Screening for NLRP7 mutations in familial and sporadic recurrent hydatidiform moles: report of 2 Tunisian families. 61
21623199 2011
31
Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region. 61
19246479 2009
32
Genetic and epigenetic analysis of recurrent hydatidiform mole. 61
19309689 2009
33
Gestational trophoblastic disease. 61
17304028 2007
34
[Genetic heterogeneity for familial recurrent hydatidiform mole]. 61
17029197 2006
35
[Recurrent hydatidiform mole. Case report of 9 successive molar pregnancies]. 61
17175694 2006
36
Analysis of the chromosomal region 19q13.4 in two Chinese families with recurrent hydatidiform mole. 61
16239310 2006
37
Familial recurrent hydatidiform mole: a review. 61
15457849 2004
38
Lack of involvement of known DNA methyltransferases in familial hydatidiform mole implies the involvement of other factors in establishment of imprinting in the human female germline. 61
12546714 2003
39
Risk of recurrent hydatidiform mole and subsequent pregnancy outcome following complete or partial hydatidiform molar pregnancy. 61
12504931 2003
40
Mole maker phenotype: possible narrowing of the candidate region. 61
10951527 2000
41
Pregnancy outcome after hydatidiform mole, initial and recurrent. 61
8040847 1994
42
Extraluminal hyperechogenic echo detected by transvaginal ultrasonography as a prognostic factor in recurrent hydatidiform mole. 61
1283145 1992
43
Preimplantation diagnosis and recurrent hydatidiform mole. 61
1970075 1990
44
Recurrent hydatidiform mole: a report of a patient with 7 consecutive moles. 61
3233084 1988
45
Natural history of recurrent molar pregnancy. 61
7366903 1980
46
[Recurrent hydatidiform mole]. 61
426223 1979
47
Recurrent hydatidiform mole. Report of a case with five recurrences. 61
696258 1978
48
A case of recurrent hydatidiform mole. 61
1235019 1975
49
Recurrent hydatidiform mole. A case report of nine consecutive molar pregnancies. 61
4684203 1973
50
Recurrent hydatidiform mole: a report of five cases with review of the literature. 61
5357204 1969

Variations for Recurrent Hydatidiform Mole

Expression for Recurrent Hydatidiform Mole

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

Pathways for Recurrent Hydatidiform Mole

Pathways related to Recurrent Hydatidiform Mole according to KEGG:

36
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

GO Terms for Recurrent Hydatidiform Mole

Sources for Recurrent Hydatidiform Mole

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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