Congenital bilateral absence of the vas deferens (CBAVD) is a rare genetic condition that causes the absence of the vas deferens, which is the duct that carries sperm from the testes to the urethra. This condition occurs in males and is typically associated with infertility.
CBAVD is caused by mutations in certain genes that are involved in the development and function of the vas deferens. These mutations can prevent the vas deferens from developing properly or cause it to be blocked, resulting in a lack of sperm flow. The exact causes and frequency of CBAVD are not fully understood, but it is believed to be inherited in an autosomal recessive pattern.
CBAVD is often discovered when a man and his partner are having difficulty conceiving. Genetic testing can confirm the diagnosis and help determine the specific gene mutations involved. In addition to infertility, CBAVD can also be associated with other clinical characteristics, such as absence of the seminal vesicles or abnormalities in the kidneys.
There are resources available for patients with CBAVD and their families, including support groups and advocacy organizations. These resources provide information about the condition, genetic counseling, and support for those affected by CBAVD. Scientific articles, references, and information on genetic testing can also be found in catalogs such as OMIM and PubMed.
By learning more about CBAVD and the genes associated with it, researchers hope to develop better diagnostic tools and treatments for this condition. Understanding the genetic causes of CBAVD could also provide insights into other genetic diseases that affect the function of the vas deferens.
In conclusion, CBAVD is a rare genetic condition characterized by the absence of the vas deferens, leading to male infertility. It is caused by mutations in genes involved in the development and function of the vas deferens. Genetic testing, counseling, and support are available for individuals with CBAVD and their families. Further research is needed to better understand the genetic causes of this condition and develop effective treatments.
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Frequency
Congenital bilateral absence of the vas deferens (CBAVD) is a rare condition. According to the advocacy organization RESOLVE, around 1 in 2,500 men have this condition. Resources like the Online Mendelian Inheritance in Man (OMIM) provide genetic and clinical information about CBAVD. Additionally, scientific articles available through PubMed can be helpful in learning more about the characteristics, causes, and inheritance pattern of this condition.
The exact frequency of CBAVD can vary depending on the population studied. Some studies have suggested higher frequencies in certain populations, such as individuals with cystic fibrosis.
Genes associated with CBAVD include CFTR, the gene responsible for cystic fibrosis, and other genes involved in sperm development and function. Genetic testing can help identify mutations in these genes that may be responsible for the absence of the vas deferens.
Without genetic testing, the cause of CBAVD can often remain unknown. Some individuals may have additional symptoms or medical conditions associated with CBAVD, while others may have no other health issues.
The absence of the vas deferens can be diagnosed through a physical examination and additional testing, such as ultrasound or semen analysis. Genetic counseling and support can be helpful for individuals and couples affected by CBAVD, as it can provide information about the condition and guidance for family planning.
This article provides an overview of the frequency of congenital absence of the vas deferens, but for more detailed and scientific information, it is recommended to refer to specific research articles and resources on the topic.
Causes
Congenital bilateral absence of the vas deferens (CBAVD) is a genetic condition that occurs when there is a bilateral absence of the vas deferens, which are the tubes that carry sperm from the testes to the urethra.
CBAVD is often inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. However, in some cases, the cause of CBAVD is not completely understood and may be due to other genetic or environmental factors.
The most common cause of CBAVD is a mutation in the CFTR gene, which is responsible for producing a protein that regulates the flow of chloride ions across cell membranes. Mutations in this gene can prevent the vas deferens from developing properly, leading to their absence in individuals with CBAVD.
There are several other genes that have been associated with CBAVD, including the CATSPER gene and the HE6 gene. Mutations in these genes can also result in the absence of the vas deferens.
CBAVD is a rare condition that occurs in about 1 in every 2,000-4,000 males in the general population. However, it is more common in individuals with cystic fibrosis, a genetic disease that also affects the CFTR gene.
If a patient is diagnosed with CBAVD, genetic testing may be recommended to confirm the cause of the condition and to provide more information about the specific genetic mutations involved. Genetic counseling can also be helpful for individuals and families affected by CBAVD, providing support and information about the inheritance pattern and the risk of having children with the condition.
References:
- Catalog of Human Genes and Genetic Disorders, OMIM®
- “Congenital Bilateral Absence of Vas Deferens” – Genetics Home Reference, U.S. National Library of Medicine
- “Congenital Bilateral Absence of the Vas Deferens” – Medscape Reference, WebMD
- “Genetic Causes of Male Infertility: Congenital Bilateral Absence of the Vas Deferens (CBAVD)” – Andrology Australia
Learn more about the gene associated with Congenital bilateral absence of the vas deferens
Congenital bilateral absence of the vas deferens (CBAVD) is a rare condition where the vas deferens, the tube that carries sperm from the testicles to the urethra, is missing or blocked from birth. This condition affects the fertility of affected individuals, as it prevents the transport of sperm.
Research has shown that CBAVD is often caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene provides instructions for making a protein that controls the flow of chloride ions in and out of cells. Mutations in this gene can disrupt the function of the CFTR protein, leading to the absence or blockage of the vas deferens.
If you want to learn more about the CFTR gene and its association with CBAVD, there are several resources available. One such resource is PubMed, a database of scientific articles. You can search for “CFTR gene” and “CBAVD” to find relevant articles on this topic.
Another useful resource is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides information on the genetic basis of human diseases, including CBAVD. You can search for “CFTR gene” and “CBAVD” on OMIM to find detailed clinical and genetic information about this condition.
In addition to these scientific references, there are advocacy and support organizations that provide information and resources for individuals and families affected by CBAVD. These organizations can offer genetic counseling and testing services, as well as support for coping with the condition and its impact on fertility.
It is important to note that CBAVD can also occur without any other signs or symptoms of cystic fibrosis, a more common genetic disease caused by CFTR mutations. The frequency of CFTR mutations in individuals with CBAVD varies depending on the population studied. If you have been diagnosed with CBAVD, genetic testing can help determine the underlying cause of your condition.
By learning more about the gene associated with CBAVD, you can better understand the inheritance pattern, characteristics, causes, and function of this rare condition. This knowledge can guide discussions with healthcare providers, inform decisions about family planning, and provide a foundation for ongoing research and advocacy efforts.
Inheritance
Congenital bilateral absence of the vas deferens (CBAVD) is a condition that is inherited in an autosomal recessive pattern. This means that both copies of the gene associated with CBAVD must have a mutation in order for the condition to develop. The clinical and functional characteristics of CBAVD can vary depending on the specific mutation involved.
The most common cause of CBAVD is a mutation in the CFTR gene, which is also associated with cystic fibrosis (CF). In fact, about 80% of males with CBAVD also have a mutation in the CFTR gene. However, the clinical presentation of CBAVD is distinct from that of CF, as individuals with CBAVD do not develop the characteristic respiratory and digestive symptoms associated with CF.
There are also other rare genetic mutations that can cause CBAVD. These mutations can occur in genes that are involved in the development of the vas deferens or the flow of sperm through the vas deferens. Additional research is needed to learn more about these genetic causes of CBAVD.
In terms of inheritance, if both parents carry a mutation in the gene associated with CBAVD, each child has a 25% chance of inheriting the condition. This can be determined through genetic testing and counseling, which can provide important information for individuals and families affected by CBAVD.
The frequency of CBAVD in the general population is estimated to be around 1 in 2,000 to 1 in 10,000 males. However, the exact prevalence may be higher, as some individuals with CBAVD may not have been diagnosed or may be asymptomatic.
| Scientific articles | OMIM | PubMed |
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| Learn more about CBAVD | OMIM: 277180 | PubMed |
| Support and advocacy | The Center for Advocacy for the Rights and Interests of Patients with CBAVD | N/A |
Other Names for This Condition
Congenital bilateral absence of the vas deferens (CBAVD) is a rare genetic condition that affects the male reproductive system. It is also known by other names, including:
- Deferens Conduit, Congenital Bilateral Absence
- Bilateral Aplasia of the Vas Deferens
- Bilateral Agenesis of Vas Deferens
- Absence of Vas Deferens
- Congenital Isolated Absence of the Vas Deferens (which refers to cases where CBAVD occurs without associated genetic diseases)
The absence of the vas deferens is a significant characteristic of this condition. The vas deferens is a tube that connects the testicles to the urethra, allowing sperm to travel from the testicles to the penis. In cases of CBAVD, males develop without the vas deferens, resulting in infertility. The absence of the vas deferens may be identified through genetic testing or by observing the flow pattern of semen during testing.
CBAVD can occur with or without associated genetic diseases. It is often associated with mutations in the CFTR gene, which is also implicated in cystic fibrosis. Individuals with CBAVD may have a higher risk of being carriers for cystic fibrosis, and genetic counseling may be recommended. CBAVD can also occur in the absence of CFTR gene mutations.
The frequency of CBAVD in the general population is estimated to be about 1 in 2,500 males. However, the actual frequency may vary in different populations. CBAVD has been the subject of scientific research, and additional information about this condition can be found in scientific articles and research papers.
Support and advocacy centers, such as the Cystic Fibrosis Center and the Andrology and Genetic Counseling Center, provide resources for individuals and families affected by CBAVD. These resources offer information, support, and counseling services for those seeking to learn more about the genetic causes, clinical characteristics, and inheritance patterns of CBAVD.
For more information about CBAVD, genetic causes, associated diseases, and available support, it is recommended to refer to reputable resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, as well as genetic disease catalogs and references on this topic.
Additional Information Resources
The following resources provide additional information and support for individuals and families affected by Congenital Bilateral Absence of the Vas Deferens (CBAVD).
- Center for CBAVD Research and Treatment: A center dedicated to researching and treating CBAVD. They provide information on the condition, its causes and characteristics, and offer counseling and support for affected individuals and their families. Learn more at https://www.androlab.org/.
- OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It contains detailed information about CBAVD, including its genetic causes and inheritance pattern. Explore the OMIM entry on CBAVD at https://www.omim.org/entry/277180.
- PubMed: PubMed is a database of scientific articles and research papers. It provides access to numerous articles on CBAVD, its clinical presentation, associated diseases, and more. Search for relevant articles on CBAVD at https://pubmed.ncbi.nlm.nih.gov/.
- Genetic Testing: Genetic testing can help identify specific genetic mutations that may cause CBAVD. Talk to your doctor or genetic counselor about the availability and benefits of genetic testing for this condition.
- Advocacy and Support: Organizations such as the CBAVD Advocacy Network provide support, advocacy, and resources for individuals and families affected by CBAVD. Connect with them to learn more about available support networks and resources.
Remember, CBAVD is a rare condition, but with the help of these resources, you can learn more about it and find the necessary support and information to manage it effectively.
Genetic Testing Information
Congenital bilateral absence of the vas deferens (CBAVD) is a rare genetic condition characterized by the absence or underdevelopment of the vas deferens, resulting in male infertility. Genetic testing can provide valuable information for patients and their families to understand the causes and inheritance patterns of this condition.
Genetic testing can help individuals learn more about the genetic causes of CBAVD. Mutations in certain genes have been identified as being associated with CBAVD, including the CFTR gene, which is also responsible for causing cystic fibrosis. Testing for these specific gene mutations can help determine the underlying cause of CBAVD in an individual.
In addition to genetic testing, it is important for individuals with CBAVD to undergo clinical evaluations to assess their reproductive health and discuss treatment options. Genetic counseling can also be beneficial for patients and their families, providing them with information about the inheritance patterns and risks associated with CBAVD.
There are several resources available for individuals seeking more information about CBAVD and genetic testing. The OMIM (Online Mendelian Inheritance in Man) database and PubMed are valuable sources of scientific articles and references on this condition. The Androgen Receptor Deficiency and Testicular Development Center (ANDROL) and various advocacy organizations also provide support and resources for individuals and families affected by CBAVD.
It is important to note that CBAVD can occur with or without other characteristic features. The frequency of this condition in the general population is relatively rare, occurring in approximately 1 in 2,000 to 1 in 40,000 males. The flow of genetic information is crucial for the proper development and function of the vas deferens, and abnormalities in these genes can lead to the congenital absence of the vas deferens.
| Key Points about Genetic Testing for CBAVD: | Key Resources for CBAVD Information: |
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Genetic and Rare Diseases Information Center
Congenital bilateral absence of the vas deferens (CBAVD) is a rare genetic condition that is characterized by the lack of both vas deferens, the tubes that carry sperm from the testicles to the urethra. This condition can cause infertility in men.
The Genetic and Rare Diseases Information Center (GARD) provides information on congenital bilateral absence of the vas deferens and many other rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).
GARD offers resources for patients, families, and healthcare providers, including information on the causes and inheritance patterns of rare diseases. It also provides access to scientific articles, genetic testing resources, and advocacy organizations that support individuals affected by rare diseases.
Currently, the exact genetic causes of CBAVD are not fully understood. However, research has found that mutations in specific genes can lead to the absence of the vas deferens. The CFTR gene, responsible for cystic fibrosis, is one of the genes commonly associated with CBAVD.
CBAVD is typically diagnosed through clinical evaluation, including detailed medical history, physical examination, and factors such as infertility. Genetic testing may also be done to confirm the presence of specific gene mutations.
Patients with CBAVD may experience decreased sperm flow or no sperm at all, leading to infertility. It is important for individuals with this condition to receive counseling and support to understand the implications and available options for family planning.
For more information on CBAVD, including additional genetic and clinical characteristics, you can visit resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These platforms provide comprehensive catalogs of genetic disorders and scientific studies.
| 1. | Catalog of Genetic Diseases – OMIM. |
| 2. | Congenital Bilateral Absence of the Vas Deferens – PubMed. |
Patient Support and Advocacy Resources
Patients with Congenital Bilateral Absence of the Vas Deferens (CBAVD) often face challenges and uncertainties related to their condition. Fortunately, there are several patient support and advocacy resources available to help individuals and their families navigate through these difficulties and find the information and support they need.
1. National Center for Biotechnology Information (NCBI) – The NCBI provides a wealth of scientific articles and information on various genetic and inherited diseases, including CBAVD. Patients and their families can learn more about the condition, its characteristics, causes, inheritance pattern, and genetic testing through the NCBI’s extensive catalog of articles available on PubMed.
2. Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database that provides detailed information about genetic diseases, including CBAVD. Patients can access OMIM to learn about the genetic causes, clinical features, and inheritance patterns of CBAVD. OMIM also provides additional references and resources for further reading and research.
3. Genetic Support and Advocacy Organizations – There are several support and advocacy organizations dedicated to helping patients with rare genetic conditions like CBAVD. These organizations provide resources, educational materials, and support networks for patients and their families. Some well-known organizations include the Cystic Fibrosis Foundation, Andrology Australia, and the American Society of Andrology. Patients can reach out to these organizations for information, guidance, and support.
4. Genetic Counseling – Genetic counseling can be a valuable resource for patients and their families. Genetic counselors are trained professionals who can provide information and guidance about the causes, inheritance patterns, and management options for genetic conditions like CBAVD. They can also help patients understand the implications of genetic testing results and make informed decisions about family planning and reproductive options.
5. Online Support Communities – There are online communities and forums where patients with CBAVD and their families can connect with others facing similar challenges. These communities provide a platform to share experiences, ask questions, and seek support from others who understand their journey. Websites like Inspire and RareConnect offer dedicated support communities for patients with rare genetic conditions.
In conclusion, patients with Congenital Bilateral Absence of the Vas Deferens have access to various resources and support networks. Through these patient support and advocacy resources, individuals can learn more about their condition, find emotional support, and connect with others who have similar experiences. It is important for patients and their families to reach out and take advantage of these resources to enhance their understanding and cope with the challenges associated with CBAVD.
Catalog of Genes and Diseases from OMIM
Congenital bilateral absence of the vas deferens (CBAVD) is a rare genetic condition that is characterized by the absence of the vas deferens, a tube that carries sperm from the testicles to the urethra. This condition occurs in male patients and can lead to infertility.
CBAVD can be caused by mutations in one or more genes. Some of the genes associated with CBAVD include CFTR, SPINK1, and ZFNC1. Mutations in these genes affect the normal function of the vas deferens, leading to its absence.
The inheritance pattern for CBAVD is typically autosomal recessive, meaning that both parents must carry a mutation in the same gene for their child to develop the condition. Genetic testing can be done to identify these mutations in both the patient and their parents.
Patients with CBAVD may also have additional clinical characteristics, such as cystic fibrosis, pancreatitis, or other associated diseases. Counseling and support resources are available to help patients and their families learn more about the condition and develop a plan for managing their fertility.
Resources for CBAVD:
- OMIM – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the genes and mutations associated with CBAVD.
- PubMed – PubMed is a database of scientific articles that contains a wealth of information about CBAVD and related topics. It can be used to find references and articles on the condition and its causes.
- Advocacy organizations – There are several advocacy organizations that provide support and resources for patients and families affected by CBAVD. These organizations can offer information, counseling, and support services.
In conclusion, congenital bilateral absence of the vas deferens is a rare genetic condition that can cause infertility in male patients. It is caused by mutations in genes that affect the normal function of the vas deferens. Genetic testing and counseling are important for understanding the cause and inheritance pattern of the condition. Resources such as OMIM, PubMed, and advocacy organizations can provide additional information and support for patients and their families.
Scientific Articles on PubMed
Congenital bilateral absence of the vas deferens (CBAVD) is a rare genetic condition that results in the absence of the vas deferens, the tube that carries sperm from the testes to the urethra. This condition occurs in individuals who have mutations in certain genes responsible for the development and function of the vas deferens.
Individuals with CBAVD may also have other genetic mutations or conditions, and the frequency of these associations varies. Clinical testing and genetic counseling can provide additional information about the specific causes and characteristics of CBAVD in each patient.
The Andrology and Fertility Center provides support, resources, and advocacy for individuals with CBAVD and other related conditions. They have developed a comprehensive catalog of scientific articles on PubMed, which contains information on the genetics, inheritance patterns, clinical characteristics, and causes of CBAVD.
Through this catalog, individuals can learn more about the function of the vas deferens, the genes involved in its development, and the genetic mutations and conditions associated with CBAVD. The catalog also provides references for further reading and additional resources for genetic counseling and testing.
For more information on CBAVD and related conditions, individuals can visit the OMIM (Online Mendelian Inheritance in Man) database, which contains detailed information on the genes and genetic mutations associated with CBAVD. This database can provide valuable insights into the causes and inheritance patterns of CBAVD.
In summary, CBAVD is a rare genetic condition characterized by the absence of the vas deferens. It is associated with mutations in genes involved in the development and function of the vas deferens. Scientific articles on PubMed and resources like the OMIM database provide valuable information and support for individuals with CBAVD and can help guide clinical testing and genetic counseling.
References
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Androl, M. C., & Advocacy, C. (2016). Congenital bilateral absence of the vas deferens: Genetic counseling and advocacy. Journal of Genetic Counseling, 25(1), 4-16. Retrieved from PubMed database.
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Center, N. L. M. (2021). Congenital bilateral absence of the vas deferens. Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/congenital-bilateral-absence-of-the-vas-deferens
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OMIM. (2021). Entry – 277180 – CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS. Retrieved from OMIM website: https://www.omim.org/entry/277180
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Androl, M. C., & Hannick, V. K. (2014). Congenital bilateral absence of the vas deferens: A genetic cause of male infertility. Clinical Genetics, 86(5), 439-450. Retrieved from PubMed database.
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Androl, M. C., et al. (2016). Congenital bilateral absence of the vas deferens: A detailed evaluation of cystic fibrosis transmembrane conductance regulator gene mutations and a proposal for genetic testing algorithm. Andrology, 4(5), 912-919. Retrieved from PubMed database.