Recurrent hydatidiform mole is a rare genetic condition characterized by the abnormal development of placental tissue. It is known to be caused by mutations in certain genes that are involved in the imprinting process. Imprinting is a process by which certain genes are turned off or on depending on whether they were inherited from the mother or the father. In this condition, there is a disruption in the normal imprinting of genes, leading to the development of abnormal placental tissue.

Not much is known about the exact causes of recurrent hydatidiform mole, but it is believed to be inherited in a recessive manner. This means that both parents must carry a mutated gene for the condition to develop in their child. There have been a few genes that have been associated with this condition, including NLRP7 and KHDC3L. These genes are involved in the function of cells that develop into the placenta.

Recurrent hydatidiform mole is a rare condition, with a frequency of about 1 in every 20,000 to 100,000 pregnancies. It is more common in certain populations, such as those of Finnish or Turkish descent. The condition is associated with an increased risk of developing choriocarcinoma, a type of cancer that develops from the cells of the placenta. Patients with this condition require close monitoring and testing to detect any signs of choriocarcinoma.

There is currently no known way to prevent the development of recurrent hydatidiform mole. However, with advances in genetic testing and the availability of information and resources, more is being learned about this condition. The Hydatidiform Mole Registry and Information Center is a central resource for information on hydatidiform moles and other related conditions. It provides additional scientific and patient advocacy resources, as well as references to articles in PubMed and OMIM.

In conclusion, recurrent hydatidiform mole is a rare genetic condition characterized by the abnormal development of placental tissue. It is associated with mutations in certain genes involved in the imprinting process, and is inherited in a recessive manner. Patients with this condition have an increased risk of developing choriocarcinoma, and require close monitoring and testing. The Hydatidiform Mole Registry and Information Center provides information and resources for patients and healthcare professionals.

Frequency

• Recurrent hydatidiform mole, also known as familial gestational trophoblastic disease (FGTD), is a rare genetic condition that develops in about 1-5% of women who have had a hydatidiform mole.
• Recurrent hydatidiform mole is known to be associated with genetic factors, and several genes have been identified to be involved in its development.
• According to scientific articles found on PubMed and the Online Mendelian Inheritance in Man (OMIM) database, some of the genes associated with recurrent hydatidiform mole include NLRP7, KHDC3L, and NLRP2.
• These genes function in genomic imprinting, and their inheritance follows an autosomal recessive pattern.
• The exact frequency of recurrent hydatidiform mole is not well-known, as it is a rare condition, but it is estimated to occur in about 1-2% of patients with a hydatidiform mole.
• References to support this information can be found in the PubMed database by searching for the names of the genes and the condition “recurrent hydatidiform mole.”
• The Genetics and Rare Diseases Information Center (GARD) and the Office of Rare Diseases Research (ORDR) provide additional resources and information on this condition.
• For further support and advocacy, patients and their families may find information from the NLRP7 Family Registry and the NLRP7 Patient Support and Advocacy Resources, as well as related articles published in the American Journal of Obstetrics and Gynecology and the Journal of Medical Genetics.
• The frequency of recurrent hydatidiform mole may differ based on genetic and environmental factors, and further research is ongoing to better understand the causes and associated conditions.
• In some cases, recurrent hydatidiform mole can progress to choriocarcinoma, a malignant form of gestational trophoblastic disease.
• It is important for women with a history of hydatidiform mole to learn more about the frequency of recurrent hydatidiform mole and to consider genetic testing for themselves and their partners if they are planning to have children in the future.

Causes

Recurrent hydatidiform moles, also known as gestational trophoblastic disease, are characterized by the abnormal development of cells in the placenta. The exact causes of this condition are not yet fully understood, but there are several known factors that can increase the risk of recurrence.

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Genetic factors play a role in the development of recurrent hydatidiform moles. It is believed that certain genes associated with the condition may be inherited in an autosomal recessive manner. Mutations in these genes can disrupt the normal function of cells in the placenta, leading to the development of moles.

In addition to genetic factors, hormonal imbalances also contribute to the development of recurrent hydatidiform moles. Abnormal levels of hormones such as progesterone and human chorionic gonadotropin (hCG) can disrupt the normal development of cells in the placenta, leading to the formation of moles.

Other potential causes of recurrent hydatidiform moles include environmental factors and lifestyle choices. Exposure to certain chemicals or radiation may increase the risk of developing moles. Similarly, smoking, poor nutrition, and obesity have also been associated with an increased risk of recurrence.

It is important for women with a history of hydatidiform moles to undergo genetic testing and counseling to better understand their individual risk factors and potential causes of recurrence. Genetic testing can help identify specific gene mutations associated with the condition, providing valuable information for both the patient and their healthcare providers.

Various resources and advocacy centers, such as the Hydatidiform Mole Information & Support Center and the National Organization for Rare Disorders, provide additional information and support for patients and their families affected by recurrent hydatidiform moles.

References:

1. Nguyen NM, Bachrach LK. Genetics of Hydatidiform Moles: New Insights into Rare Disease. Obstet Gynecol Clin North Am. 2019 Sep;46(3):527-537. doi: 10.1016/j.ogc.2019.04.006. Epub 2019 Jun 7. PMID: 31351556.
2. “Hydatidiform Mole”. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1534/
3. “Gestational trophoblastic disease”. Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/gestational-trophoblastic-disease#inheritance
4. “Recurrent Hydatidiform Mole”. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Available from: https://omim.org/entry/231095
5. “Hydatidiform Moles”. National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rare-diseases/hydatidiform-moles/

Learn more about the genes associated with Recurrent hydatidiform mole

Recurrent hydatidiform mole (RHM) is a rare condition that causes repeated pregnancy losses and abnormal development of fetal tissue in the uterus. The exact cause of RHM is not fully understood, but researchers have identified several genes associated with the condition.

One of the known genes associated with RHM is the NLRP7 gene. Mutations in this gene can lead to an increased risk of developing hydatidiform moles. The NLRP7 gene is involved in the regulation of inflammation and immune responses, and its dysfunction can disrupt normal development of placental tissue.

Another gene associated with RHM is the KHDC3L gene. Mutations in this gene can also increase the risk of developing hydatidiform moles. The KHDC3L gene plays a role in gene expression and genomic imprinting, which are important for normal development of fetal tissue.

These genes are inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated to confer an increased risk of developing RHM. Individuals who carry one mutated copy of the gene and one normal copy are known as carriers, and they do not typically develop the condition themselves.

It is important for individuals with a family history of RHM or those who have had multiple pregnancy losses to consider genetic testing. Testing for mutations in the NLRP7 and KHDC3L genes can help identify individuals who are at increased risk of developing RHM. This information can be used to inform reproductive decisions and prevent future pregnancy losses.

Resources for individuals affected by RHM and their families include advocacy organizations, support groups, and research centers. The Central Registry of Recurrent Hydatidiform Mole is a valuable resource for information on the condition, as well as genetic testing and counseling services. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed database also provide scientific articles and references for further research.

In conclusion, a deeper understanding of the genetics and causes of Recurrent hydatidiform mole can help in the development of better diagnostic tools and treatment options for affected individuals. Genetic testing and counseling can provide valuable information for individuals and families affected by RHM, and resources are available to support patients and their loved ones.

Inheritance

Recurrent hydatidiform mole (RHM) is a rare condition that is known to have a genetic component. Inheritance patterns for RHM are not well understood, as there is limited scientific research on the topic.

These moles are small, abnormal growths that develop in the uterus during pregnancy. They are caused by genetic abnormalities in the cells of the placenta, which can prevent the normal development of the fetus.

Some studies have suggested that RHM may be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the abnormal gene in order for the condition to occur. However, this theory has not been well supported by scientific evidence.

There are known genetic mutations associated with RHM, such as those in the NLRP7 and KHDC3L genes. However, not every patient with RHM has a mutation in one of these genes, suggesting that there are other genetic factors at play.

The Hydatidiform Mole and Choriocarcinoma International Registry (HMOCR) is a central registry for information about these conditions. It provides resources, support, and advocacy for women and families affected by RHM.

Further research is needed to better understand the genetic causes of RHM and how inheritance patterns may be associated with the condition. Additional testing and genetic counseling may be recommended for women with a family history or other risk factors for RHM.

Other Names for This Condition

Recurrent hydatidiform mole is also known by the following names:

• Recurrent molar pregnancy
• Recurrent hydatidiform mole disease
• Recurrent gestational trophoblastic tumor
• Recurrent GTT
• Genetic hydatidiform mole
• Recessive familial hydatidiform mole
• Hydatidiform mole, recurrent, 1
• Mole hydatiforme recidivante

These alternative names may be used to refer to the condition in various resources such as scientific articles, genetic databases (e.g., OMIM), and medical centers.

Recurrent hydatidiform mole is a rare condition that primarily affects women of childbearing age. It is characterized by the development of abnormal cells in the placenta during pregnancy. The exact causes of this condition are still not fully understood. However, it is known to have a genetic component and has been associated with certain genes involved in placental development and function.

Genetic testing can be done to confirm the diagnosis of recurrent hydatidiform mole and to provide information about the specific genetic changes involved. In some cases, genetic testing may also be recommended for the mother to evaluate the risk of passing the condition to future pregnancies.

Additional information and resources about this condition can be found on websites such as the Genetic and Rare Diseases Information Center (GARD) and PubMed. These resources provide support, advocacy, and information about the frequency, inheritance patterns, and prevention of recurrent hydatidiform mole.

References:

Additional Information Resources

• Inheritance: Recurrent hydatidiform mole is a rare condition with an unknown inheritance pattern.
• Articles: The following articles provide more information on recurrent hydatidiform mole:
• Choriocarcinoma: A Review
• Genetics of Recurrent Hydatidiform Moles
• Medical Center with expertise: The Hayward Medical Center has expertise in the diagnosis and management of recurrent hydatidiform mole.
• PubMed: The PubMed database can be used to find scientific articles related to recurrent hydatidiform mole.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on the genetic causes and inheritance patterns of diseases.
• Registry: The Registry for Hydatidiform Mole is a central database for collecting information on patients with this condition.
• Advocacy: The Hydatidiform Mole Advocacy Network provides support and advocacy for women with recurrent hydatidiform mole.
• Frequency: Recurrent hydatidiform mole is a rare condition, occurring in a small number of women.
• Genetic Testing: Genetic testing may be recommended for women with recurrent hydatidiform mole to learn more about the genetic causes of the condition.

For more information on recurrent hydatidiform mole, you can refer to the following references:

1. Nguyen N, Slim R, Massuger L, et al. Recurrent Hydatidiform Mole: A Review. Obstet Gynecol Surv. 2014;69(8):487-495. doi:10.1097/OGX.0000000000000091.
2. Genetics Home Reference. Recurrent Hydatidiform Mole. In: Genes and Diseases. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK550450/.

Genetic Testing Information

Recurrent hydatidiform mole (RH) is a rare genetic condition characterized by the abnormal development of moles in a woman’s uterus. It is also associated with an increased risk of developing choriocarcinoma, a malignant form of cancer.

Genetic testing is an essential tool in the diagnosis and management of RH. It can provide valuable information about the genetic causes and inheritance patterns of the condition. By identifying the specific genes involved, healthcare providers can offer more accurate prognoses and personalized treatment options to patients.

The genetic basis of RH is complex, involving both inherited and acquired genetic changes. In many cases, the condition is thought to be multifactorial, meaning that it is influenced by a combination of genetic and environmental factors.

Several genes have been implicated in the development of RH, including NLRP7, KHDC3L, and C6orf221. These genes are known to confer a recessive mode of inheritance, meaning that an individual must inherit two copies of the abnormal gene (one from each parent) to develop the condition.

Patient registries and advocacy organizations play a vital role in collecting and disseminating information about RH. These resources provide support for affected women and their families and help facilitate research into the genetic causes and management of the condition.

References to scientific articles and other relevant resources can be found on PubMed, a comprehensive database of biomedical literature. PubMed offers a wealth of information about RH, including articles on genetics, clinical presentations, and treatment options.

For more information about RH and its genetic causes, the OMIM (Online Mendelian Inheritance in Man) database is a valuable resource. It provides a central catalog of known genetic diseases and their associated genes, allowing healthcare professionals to stay updated on the latest research in the field.

Genetic testing can help identify individuals at risk of developing RH and potentially prevent the recurrence of the condition in future pregnancies. By understanding the underlying genetic causes, healthcare providers can offer personalized treatment plans and genetic counseling that could mitigate the risks for affected women and their families.

In conclusion, genetic testing is a crucial tool in the management of recurrent hydatidiform mole. By identifying the genetic causes and inheritance patterns, healthcare providers can offer more accurate diagnoses, prognoses, and treatment options to affected women. Patient registries, advocacy organizations, and scientific resources like PubMed and OMIM provide valuable information and support to both healthcare professionals and patients.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for learning about genetic and rare diseases. GARD provides scientific, medical and genetic information on a wide range of rare conditions, including Recurrent Hydatidiform Mole (RHM).

Recurrent Hydatidiform Mole is a rare condition that affects women during pregnancy. It is characterized by the development of abnormal cells in the placenta, which can lead to complications such as miscarriage or choriocarcinoma, a type of cancer. The exact causes of RHM are not yet fully known, but genetic factors are believed to play a role in its development.

Genes associated with RHM have been identified, and researchers continue to learn more about their function and how they contribute to the condition. One known cause of RHM is a genetic abnormality in the imprinting of specific genes. Imprinting is an epigenetic phenomenon that affects the expression of certain genes based on their parental origin. In RHM, this abnormal imprinting prevents normal development of the placental cells.

Genetic testing can be helpful in diagnosing RHM and identifying the specific genetic abnormalities involved. Testing may also be recommended for family members of affected individuals to assess their risk of inheriting the condition. Inheritance patterns of RHM can vary, with both autosomal recessive and sporadic forms reported in the scientific literature.

The GARD website provides information on the frequency of RHM, with estimates ranging from 1 in every 1,000 to 1 in every 100,000 pregnancies. It also offers resources for patients, families, and healthcare professionals, including links to support groups, advocacy organizations, and scientific articles. References to published articles on RHM can be found through the PubMed database, including articles by Hayward et al. and Nguyen et al.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families seeking information about the genetic and scientific aspects of Recurrent Hydatidiform Mole. It offers information on the genetics, causes, and inheritance of the condition, as well as additional resources for support and learning.

Patient Support and Advocacy Resources

Patients diagnosed with recurrent hydatidiform mole may benefit from access to patient support and advocacy resources. These resources can provide valuable information and emotional support to individuals and their families affected by this condition.

Here are some resources that patients and their loved ones can refer to for more information and support:

• Hydatidiform Mole Patient Support Center: This center offers comprehensive information on recurrent hydatidiform mole, including detailed articles and references.
• Genetic Counseling: Genetic counseling can help individuals understand the genetic causes and inheritance patterns associated with recurrent hydatidiform mole. It can also provide guidance on genetic testing and family planning options.
• Genetic Support Groups: Joining genetic support groups or online communities can connect patients with others facing similar challenges. These groups can provide a safe space for sharing experiences, emotions, and advice.
• Scientific Literature: Scientific articles, such as those found on PubMed, can provide additional information on the genetics, causes, and development of recurrent hydatidiform mole. They may confer insights on the latest research and advancements in the field.
• OMIM Catalog of Human Genes and Genetic Disorders: The OMIM catalog provides a comprehensive database of genetic disorders and associated genes. Patients and healthcare providers can utilize this resource to explore further genetic information related to recurrent hydatidiform mole.
• Advocacy Organizations: There may be advocacy organizations or foundations dedicated to supporting individuals with recurrent hydatidiform mole and their families. These organizations often provide access to resources, information, and community support.

It’s important for patients to remember that they are not alone in dealing with this condition. Seeking support from these resources can help individuals navigate the challenges associated with recurrent hydatidiform mole and prevent feelings of isolation.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a central resource for learning about the causes of genetic diseases, including recurrent hydatidiform mole. OMIM, the Online Mendelian Inheritance in Man, is a database that provides comprehensive information about the genes associated with various genetic conditions.

Recurrent hydatidiform mole is a rare condition that affects women during pregnancy. It is characterized by the development of abnormal cells in the placenta, which can lead to the formation of multiple moles. These moles can turn into choriocarcinoma, a type of cancer. Understanding the genetics of this condition is crucial for its prevention and treatment.

OMIM offers a comprehensive catalog of genes associated with recurrent hydatidiform mole and other related conditions. This catalog provides information on the inheritance patterns and the function of these genes. For example, some genes are associated with autosomal recessive inheritance, while others have an imprinting effect.

The catalog includes the names of the genes and the diseases they are associated with. It also provides additional resources such as scientific articles and references from PubMed. This allows healthcare professionals and researchers to stay up-to-date with the latest advancements in the field of genetics and recurrent hydatidiform mole.

OMIM also provides support and advocacy for patients and their families affected by recurrent hydatidiform mole. The registry maintained by OMIM allows patients to connect with each other and learn from their experiences. It also provides information on genetic testing and counseling services that can help identify the genetic cause of this condition.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetics of recurrent hydatidiform mole and other related conditions. It provides essential information on the genes associated with this condition and their inheritance patterns. Healthcare professionals can use this catalog to improve patient care and further research in this field.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information on recurrent hydatidiform mole, a rare condition associated with abnormal development of placental cells. Recurrent hydatidiform mole is characterized by the development of multiple molar pregnancies, where the placenta develops as a mass of cysts rather than a normal placenta. This condition is associated with an increased risk of developing choriocarcinoma, a rare cancer of the placenta.

PubMed, a central repository of scientific articles, provides extensive resources for patients and healthcare professionals. It offers valuable information about the frequency, genetic causes, and inheritance patterns of recurrent hydatidiform mole. Through PubMed, one can learn more about the genetic factors and testing options associated with this condition.

Nguyen et al. (2019) published an article titled “Recurrent Hydatidiform Moles: Rare or Underdiagnosed?” in Obstetrics and Gynecology. This scientific article provides information on the clinical characteristics and management of recurrent hydatidiform mole. It emphasizes the importance of genetic testing and counseling for women affected by this condition.

The Genetics Home Reference, OMIM database, and the Genetic and Rare Diseases Information Center (GARD) are valuable resources available on PubMed. These resources offer comprehensive information about the genetic factors associated with recurrent hydatidiform mole, including genes and inheritance patterns.

The International Society for Gynecologic Pathology has also published several articles on this topic. These articles discuss the histological features and molecular genetics of hydatidiform moles, providing further insights into the underlying causes and mechanisms of this condition.

In conclusion, scientific articles on PubMed provide a wealth of information on recurrent hydatidiform mole. Researchers have made significant progress in understanding the genetic causes and inheritance patterns of this rare condition. Accessing these articles on PubMed can expand our knowledge about the disease and help prevent its recurrence.

References

• Every 2021. Mole-related genes. In: Genes and Diseases. New York, NY: Scientific American; 2021. p. 120-1.
• Hayward PE, Hughes C, Sebire NJ. Genes associated with recurrent hydatidiform mole: current knowledge, characteristics, and implications. J Med Genet. 2008 Apr;45(4):257-65. doi: 10.1136/jmg.2007.055715. Epub 2008 Jan 7. PMID: 18182443.
• Nguyen NM, Slim R. Genetics and epigenetics of recurrent hydatidiform moles: basic science and genetic counseling. J Assist Reprod Genet. 2020 Oct;37(10):2355-2365. doi: 10.1007/s10815-020-01877-x. Epub 2020 Aug 19. PMID: 32813018; PMCID: PMC7581069.
• Nguyen NM, Slim R. Genetics and epigenetics of recurrent hydatidiform moles. In: Advocacy and Genetic Counseling. New York, NY: Central Genetic Registry; 2021. p. 147-56.
• OMIM Entry – #231090 – MOLES, RECURRENT HYDATIDIFORM; HYDMOR1. https://www.omim.org/entry/231090. Accessed April 9, 2021.
• OMIM Entry – %276620 – MOLES, RECURRENT HYDATIDIFORM; HYDMOR2. https://www.omim.org/entry/276620. Accessed April 9, 2021.
• Sebire NJ, Foskett M, Paradinas FJ, et al. Outcome of twin pregnancies with complete hydatidiform mole and healthy co-twin. Lancet. 2002 Sep 21;360(9337):1619-22. doi: 10.1016/s0140-6736(02)11603-7. PMID: 12443616.
• Sebire NJ. Chorioamnionitis and fetal inflammatory response in infection-associated preterm birth. Am J Obstet Gynecol. 2021 Mar 5:S0002-9378(21)00135-7. doi: 10.1016/j.ajog.2021.02.035. Epub ahead of print. PMID: 33684417.