Disease at a Glance

Summary
A rare, congenital, fetal lower urinary tract obstruction (LUTO) anomaly characterized by an abnormal congenital obstructing membrane or leaflets that are located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.

About Posterior urethral valves

Many rare diseases have limited information. Currently GARD is able to provide the following information for Posterior urethral valves:

  • Population Estimate:In the US, there are less than 50,000 with this disease.
  • Symptoms:May start to appear at any time in life.
  • Experts:GARD is not currently aware of a specialist directory for this condition.
  • Organizations:GARD is not aware of organizations specific to this condition. 
  • Categories:Birth DefectKidney DiseaseUrogenital DisorderGenetic Disease
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult Selected
65+ years
Symptoms may start to appear at any time in life.

Symptoms

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:

21 Symptoms

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Causes

Genetic Disease

Posterior urethral valves is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: BNC2

What is a gene?

Genes are part of our DNA, the basic genetic material found in each of our body's cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins. 

Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.

Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)
Genes are part of our DNA, the basic genetic material found in each of our body's cells. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins. 

Each gene performs a different job in our cells. Some genes serve as the instructions to make proteins. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes can turn other genes on or off. Others make RNA molecules that are involved in chemical reactions in the body.

Sources to Learn More: What is a gene? (MedlinePlus) ; What's a Gene? (NHGRI) ; What are proteins and what do they do? (MedlinePlus)
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Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

X-linked recessive inheritance

X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Recessive means that when there are two copies of the responsible gene, both copies must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

Because women have two X chromosomes, a pathogenic variant for an X-lined recessive disease generally needs to occur in both copies of the gene to cause the disease. Because men have one X chromosome and thus only one copy of the gene, a pathogenic variant in their one copy is enough to cause the disease. Women who have a pathogenic variant in one copy of the gene, are called carriers. In rare cases, women carriers may experience mild to moderate symptoms but most have no symptoms.

A woman who carries one X-linked gene variant has a 50% (1 in 2) chance of having a son with the disease and a 50% (1 in 2) chance of having a daughter who is a carrier. A man with an X-linked recessive disease cannot pass on the disease to his sons, but all of his daughters will be carriers. If a male child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother or may have occurred by chance for the first time in the child (de novo).
X-linked means the gene is located on the X chromosome, one of two sex chromosomes. Genes, like chromosomes, usually come in pairs. Recessive means that when there are two copies of the responsible gene, both copies must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

Because women have two X chromosomes, a pathogenic variant for an X-lined recessive disease generally needs to occur in both copies of the gene to cause the disease. Because men have one X chromosome and thus only one copy of the gene, a pathogenic variant in their one copy is enough to cause the disease. Women who have a pathogenic variant in one copy of the gene, are called carriers. In rare cases, women carriers may experience mild to moderate symptoms but most have no symptoms.

A woman who carries one X-linked gene variant has a 50% (1 in 2) chance of having a son with the disease and a 50% (1 in 2) chance of having a daughter who is a carrier. A man with an X-linked recessive disease cannot pass on the disease to his sons, but all of his daughters will be carriers. If a male child is the first person in a family with the disease, the pathogenic variant may have been inherited from the mother or may have occurred by chance for the first time in the child (de novo).
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Advocacy and Support Groups

How can a patient organization be helpful?

Patient advocacy and support organizations offer many valuable services and often drive the research and development of treatments for their disease(s). Because these organizations include the life experiences of many different people who have a specific disease, they may best understand the resources needed by those in their community. Although missions of organizations may differ, services may include, but are not limited to:
 

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Latest treatment and research information
  • Lists of specialists or specialty centers
  • Financial aid and travel resources
Please note: GARD provides the names of patient organizations for informational purposes only and not as an endorsement of their services. Please contact the organization directly if you have questions about the information or resources they provide.

What do disease-specific organizations do?

Some organizations build a community of patients and families impacted by a specific disease or group of related diseases. These organizations usually have more disease-specific information and services, including helping new members find others who have the same disease.

What do organizations that focus on a medical condition do?

Some organizations build a community of patients and families impacted by a medical condition, like epilepsy, or related conditions, like heart problems, that may also be a symptom in other diseases. These organizations usually have information and services focused more on the medical condition(s), but may also have information about associated diseases.

What do umbrella organizations do?

Rare disease umbrella organizations focus on improving the lives of all those impacted by rare diseases through education and advocacy efforts. Umbrella organizations provide a range of services for patients, families, and disease-specific organizations.

Patient Organizations

4 Organizations

Organization Name

Organization Type

Service

Country

Language

EveryLife Foundation for Rare Diseases
https://everylifefoundation.org/
Umbrella

Posterior Urethral Valves

Service

Information

Country

United States

Language

English

Spanish

Umbrella

Posterior Urethral Valves

Service

Information

Country

United States

Language

English

Umbrella

Posterior Urethral Valves

Service

Information

Country

United States

Language

English

National Organization for Rare Disorders
https://rarediseases.org/
Umbrella

Posterior Urethral Valves

Service

Information

Research

Country

United States

Language

English

Spanish

4 Organizations

Research

Why is Research Important for Rare Diseases?

Research increases what we know about rare diseases so that people can get a diagnosis more quickly and can know what to expect. Research also helps doctors better understand how well a treatment works and can lead to new treatment discoveries. It may even help improve diagnosis and treatment of more common diseases.

How do you find the right clinical study?

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

How do you find the right clinical study?

  • Discuss the clinical study with a trusted medical provider before enrolling
  • Review the "Study Description," which discusses the purpose of the study, and "Eligibility Criteria," which lists who can and cannot participate in the study
  • Work with the research coordinator to review the written informed consent, including the risks and benefits of the study
  • Inquire about the specific treatments and procedures, location of the study, number of visits, and time obligation
  • Determine whether health insurance is required and whether there are costs to the participant for the medical care, travel, and lodging
  • Ask questions. Remember, it is okay to decide not to participate in research

For More Information

ClinicalTrials.gov provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. Check this site often for new trials that become available.
Please contact GARD if you need help. Our Information Specialists can help you find a clinical trial and answer questions about rare diseases. GARD cannot enroll individuals in clinical trials.
ClinicalTrials.gov provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. Check this site often for new trials that become available.
Please contact GARD if you need help. Our Information Specialists can help you find a clinical trial and answer questions about rare diseases. GARD cannot enroll individuals in clinical trials.

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: February 2023