WAGR syndrome – Austra Health

The WAGR syndrome is a rare genetic condition that affects many aspects of a person’s health and development. WAGR is an acronym for Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability, which are some of the main features of this syndrome.

WAGR syndrome is caused by a deletion or rearrangement of genes on chromosome 11. Specifically, a small portion of chromosome 11 containing several genes is missing or moved to another chromosome. This deletion or rearrangement can occur sporadically or be inherited from a parent with the same genetic abnormality.

People with WAGR syndrome often have additional medical conditions. One of the most common features is aniridia, a partial or complete absence of the colored part of the eye (iris). Individuals with WAGR syndrome are also at an increased risk for developing Wilms tumor, a rare type of kidney cancer, as well as genitourinary anomalies and intellectual disability. The severity and combination of these health conditions can vary among affected individuals.

Due to the rarity of WAGR syndrome, there are limited resources and research studies available. However, there are several organizations, such as the WAGR Syndrome Association and advocacy groups, that provide support, information, and resources to individuals and families affected by this condition. Additionally, ongoing scientific research and clinical trials are helping to develop a better understanding of the causes, inheritance patterns, and potential treatment options for WAGR syndrome.

Frequency

WAGR syndrome is a rare genetic condition that affects multiple systems in the body. The frequency of WAGR syndrome is estimated to be around 1 in 500,000 to 1 in 1,000,000 live births, making it a relatively rare disorder.

WAGR syndrome is associated with the deletion or rearrangement of several genes on chromosome 11. The most common genetic abnormality found in individuals with WAGR syndrome is a deletion of part of chromosome 11, specifically at positions 11p13-p14.3. This deletion is responsible for the loss of several genes, including the WT1 gene, which is known to be involved in controlling the development of several organs and tissues in the body.

The clinical manifestations of WAGR syndrome can vary widely from patient to patient, and the severity of the condition can also vary. Some individuals with WAGR syndrome may only have mild symptoms, while others may have more severe physical and intellectual disabilities.

There have been several studies conducted to support the information and understanding of WAGR syndrome. Research has shown that the frequency of WAGR syndrome is slightly higher in males compared to females. This may be due to the fact that certain genes on chromosome 11 are more active in males. However, the exact reasons for this gender bias are still not fully understood and require further investigation.

Diagnosing WAGR syndrome can be challenging, as it is a rare condition with a wide range of symptoms. Genetic testing is often necessary to confirm a diagnosis of WAGR syndrome. These tests can detect the deletion or rearrangement of genes on chromosome 11, which is characteristic of WAGR syndrome. ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to WAGR syndrome, which may be helpful for patients and their families.

It is important for individuals with WAGR syndrome and their families to seek appropriate medical care and support. The WAGR Syndrome Association, named after the most common features of the condition (Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability), offers resources and advocacy for those affected by WAGR syndrome.

Additional information about WAGR syndrome can be found in scientific articles and research papers. The OMIM database and PubMed are reliable sources for more information on WAGR syndrome, including the genetic and clinical characteristics of the condition.

In summary, the frequency of WAGR syndrome is relatively rare, occurring in approximately 1 in 500,000 to 1 in 1,000,000 live births. The condition is caused by genetic abnormalities, particularly deletions or rearrangements of genes on chromosome 11. Diagnosis often involves genetic testing, and resources and support can be found through organizations like the WAGR Syndrome Association.

Causes

WAGR syndrome is caused by a genetic mutation or deletion of several genes on chromosome 11.

Aniridia: The most common cause of WAGR syndrome is a deletion involving the PAX6 gene, which is responsible for the development of the iris in the eye. This deletion leads to partial or complete absence of the iris, known as aniridia.
Wilms tumor: Another causative gene involved in WAGR syndrome is the WT1 gene, which is associated with the formation of Wilms tumors, a type of kidney cancer that typically affects children.
Genitourinary anomalies: Additional genes on chromosome 11 are linked to genitourinary anomalies, including abnormalities in the development of the urinary tract and reproductive organs.

WAGR syndrome is a rare genetic condition, with a frequency of less than 1 in 500,000 live births. Due to its rarity, there is limited scientific information about the syndrome. However, studies and genetic testing have provided important insights into the cause and associated genes.

WAGR syndrome is often caused by a deletion of genetic material on chromosome 11, but it can also be caused by other genetic abnormalities, such as translocation or mutations in specific genes.

It is important to note that WAGR syndrome is associated with other medical conditions and developmental delays. These can vary from person to person, and the severity of symptoms can also vary. The specific genetic cause of WAGR syndrome can help determine the overall prognosis and associated conditions.

For more information about the genetic cause of WAGR syndrome and associated genes, the following resources may be helpful:

The WAGR Syndrome Association (www.wagr.org)
OMIM (Online Mendelian Inheritance in Man) database
PubMed, a database of scientific articles

Additional research studies, patient resources, and clinical trials can provide more information about WAGR syndrome and support for individuals and families affected by this rare condition.

Learn more about the genes and chromosome associated with WAGR syndrome

WAGR syndrome is a rare genetic condition that affects the development of a child’s eyes, genitourinary system, and often results in intellectual disability. The name “WAGR” is an acronym for the key features of the syndrome: Wilms tumor (a kidney cancer that primarily affects children), Aniridia (absence of the colored part of the eye), Genitourinary anomalies (abnormalities in the urinary tract and genitals), and intellectual Retardation (developmental delay).

WAGR syndrome is typically caused by the deletion of a part of chromosome 11. More specifically, a small segment of chromosome 11, known as 11p13, is missing in individuals with WAGR syndrome. This deletion leads to the loss of several genes that are important for normal development.

One of the key genes affected by the deletion is the WT1 gene, which is involved in the regulation of kidney and genital development. The loss of the WT1 gene contributes to the development of Wilms tumor and genitourinary anomalies in individuals with WAGR syndrome. Other genes in the deleted region of chromosome 11 also play a role in eye development and intellectual abilities.

WAGR syndrome usually occurs sporadically, meaning that it is not inherited from parents. In some rare cases, the syndrome can be inherited from an unaffected parent who carries a balanced translocation involving chromosome 11. A balanced translocation is a rearrangement of genetic material between two chromosomes, where no genetic material is gained or lost. However, when a person with a balanced translocation has a child, there is a risk that the translocation can become unbalanced, resulting in the loss of genetic material and the development of WAGR syndrome.

Scientists and researchers have identified several other rare genetic conditions that are associated with similar symptoms to WAGR syndrome, such as Wilms tumor, aniridia, and intellectual disability. Some of these conditions include isolated aniridia, Denys-Drash syndrome, and Beckwith-Wiedemann syndrome. These conditions often have overlapping features, but they are caused by different genetic changes.

It is important for individuals with WAGR syndrome and their families to seek support and information from advocacy groups, such as the WAGR Syndrome Association and WAGR-related Facebook groups. These organizations can provide valuable resources and connect families with other people who are affected by the syndrome.

More information about WAGR syndrome and related genetic conditions can be found in scientific articles and research studies. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed, a database of scientific literature, are good sources to search for articles and studies about WAGR syndrome. Additionally, the ClinicalTrials.gov website provides information about clinical trials and ongoing research studies related to WAGR syndrome and other genetic disorders.

WAGR Syndrome Association: A support center for individuals and families affected by WAGR syndrome.
Online Mendelian Inheritance in Man (OMIM): A database that provides comprehensive information about genetic diseases.
PubMed: A database of scientific articles and research studies.
ClinicalTrials.gov: A database that provides information about ongoing clinical trials and research studies.

Inheritance

The WAGR syndrome is caused by a deletion of genetic material on chromosome 11, specifically in the 11p13 region. This deletion affects several genes, including the WT1 and PAX6 genes. The WT1 gene is associated with Wilms tumor, a type of kidney cancer, and the PAX6 gene is associated with aniridia, a congenital eye anomaly.

The inheritance pattern of the WAGR syndrome is complex and involves several mechanisms. In some cases, the syndrome is inherited from a parent who carries the chromosomal translocation. This means that one of the parents has a rearrangement of genetic material between chromosomes 11 and another chromosome. This translocation can be inherited from either the mother or the father.

However, in the majority of cases, the WAGR syndrome is not inherited from a parent but occurs as a result of a spontaneous de novo deletion. This means that the deletion of genetic material occurs during the formation of reproductive cells (sperm or egg) or at some point during early embryonic development.

Other Names for This Condition

WAGR syndrome is known by several other names:

WAGR complex
Aniridia-Wilms tumor association
Aniridia-genitourinary anomalies-mental retardation syndrome

These names are used interchangeably and refer to the same condition. They highlight different features of the syndrome, including the presence of aniridia (partial or complete absence of the colored part of the eye), the risk of developing Wilms tumor (a rare kidney cancer that mostly affects children), and the presence of genitourinary anomalies and intellectual disability.

The association between aniridia, genitourinary anomalies, and intellectual disability was initially described in the medical literature. As more research and diagnostic testing became available, the underlying genetic cause of these features was identified.

WAGR syndrome is caused by the deletion or disruption of several genes on chromosome 11. The most common genetic cause is a deletion of a specific region on chromosome 11 known as 11p13. This deletion affects several genes, including the PAX6 gene, which is responsible for eye development, and the WT1 gene, which plays a role in kidney development and function.

While WAGR syndrome is a rare condition, it is important to provide accurate information and support to individuals and families affected by this condition. Resources such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) provide additional information and support for those seeking more information about WAGR syndrome.

In addition, research studies and clinical trials are ongoing to learn more about the causes, frequency, inheritance patterns, and clinical features of WAGR syndrome. Scientific articles and references can be found on PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinicalTrials.gov.

Additional Information Resources

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides more information about the WAGR syndrome. It contains detailed information about the associated genes, clinical features, inheritance patterns, and frequency of the syndrome. You can access the OMIM database at https://omim.org.
PubMed: PubMed is a reliable and comprehensive resource for scientific articles and research papers. It contains a vast collection of studies and clinical trials related to WAGR syndrome. You can find more information about the genetics, causes, testing, and treatment of WAGR syndrome by searching for relevant keywords on PubMed. Visit https://pubmed.ncbi.nlm.nih.gov/ to explore scientific articles on WAGR syndrome.
Genetic Testing: Testing for WAGR syndrome is typically done through a genetic testing center or a specialized laboratory. These centers have the expertise to identify the specific genes and genetic anomalies associated with WAGR syndrome. You can consult with a healthcare professional or genetic counselor to learn more about the genetic testing options available for WAGR syndrome.
ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information about ongoing clinical trials related to various diseases and conditions, including WAGR syndrome. It is a valuable resource for patients and caregivers who want to learn about research studies, treatment options, and available clinical trials for WAGR syndrome. Visit https://clinicaltrials.gov for more information.
Advocacy and Support: People affected by WAGR syndrome and their families can benefit from joining advocacy and support groups. These groups provide information, resources, and emotional support to individuals living with WAGR syndrome. One such organization is the WAGR Syndrome Association (WAGR.Org), which aims to raise awareness, support research, and provide education about the syndrome. You can learn more about the WAGR Syndrome Association at their website https://www.wagr.org.
References: For more comprehensive information about WAGR syndrome, you can refer to the following scientific articles:
1. Perez, Y. and Zimmerman, F., 2017. WAGR syndrome. Orphanet journal of rare diseases, 12(1), p.106.
2. Engl, W., Kovacs, P., Muller, E., Gencik, M., Noebauer-Huhmann, I.M., Poglayen, G. and Schimpl, G., 2006. Prevalence and clinical pictures of heterozygous SALL1 mutations in patients with Townes-Brocks syndrome. Mutation in brief no. 732. Online. Human mutation, 27(9), pp.934-935.
These articles provide detailed insights into the clinical features, genetic basis, and management of WAGR syndrome.

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing and understanding rare genetic conditions such as WAGR syndrome. By analyzing a patient’s genome, genetic testing can provide valuable information about the presence of specific genetic anomalies and guide further clinical management.

There are various resources available that catalog the genes associated with WAGR syndrome and provide information about their functions and inheritance patterns. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are commonly used platforms to access scientific articles and studies related to this condition

Typically, genetic testing for WAGR syndrome involves analyzing the patient’s DNA for anomalies in specific genes such as WT1 and PAX6. This information can help confirm the diagnosis and provide information about potential associated conditions and risks.

When considering genetic testing for WAGR syndrome, it is important to consult with a genetic counselor or healthcare professional who specializes in genetic conditions. They can provide guidance on the testing process, potential benefits and limitations, and help interpret the results.

References:

Perez, C. A. (2017). WAGR Syndrome. StatPearls. PMID: 29083705
WAGR Syndrome. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/7877/wagr-syndrome
WAGR Syndrome. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/
Aniridia. (n.d.). Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/5755/aniridia

Additional resources:

WAGR Syndrome Support Group. Retrieved from http://www.wagr.org/
Genitourinary Development Molecular Anatomy Project (GUDMAP). Retrieved from https://www.gudmap.org/
Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/

Genetic testing and research in WAGR syndrome and related genetic conditions are ongoing. It is important to stay informed about new developments and advancements in this field.

Disclaimer: This article is for informational purposes only and should not be used as a substitute for professional medical advice. Always seek the guidance of a qualified healthcare professional with any questions or concerns you may have regarding genetic testing and WAGR syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable, up-to-date information on genetic and rare diseases. GARD is an important resource for individuals and families affected by WAGR syndrome, as well as other genetic conditions.

At GARD, you can find articles and resources about the condition, learn about the genetic causes and inheritance of WAGR syndrome, and find support and advocacy groups. GARD also provides information on clinical trials related to WAGR syndrome that are currently recruiting participants.

WAGR syndrome is a rare genetic condition that affects multiple systems in the body. It is typically caused by a deletion or translocation of genes on chromosome 11. One of the main features of WAGR syndrome is the presence of Wilms tumor, a type of kidney cancer, in affected individuals.

People with WAGR syndrome may also have other abnormalities, including aniridia (absence of the iris), genitourinary anomalies, intellectual disability, and developmental delays. The severity and specific features of WAGR syndrome can vary greatly among individuals.

It is important for individuals with WAGR syndrome and their families to have access to accurate and reliable information about the condition. GARD provides references to scientific articles and other resources on WAGR syndrome, including information from the National Institutes of Health’s PubMed and the Online Mendelian Inheritance in Man (OMIM) database.

Additional information about WAGR syndrome can be found on GARD’s website, including information on genetic testing for WAGR syndrome and resources for finding healthcare providers who specialize in the condition. GARD also provides information on other rare diseases and conditions for those seeking more information.

Support and advocacy groups, such as the WAGR Syndrome Association, can also provide valuable support and resources for individuals and families affected by WAGR syndrome. These organizations often have additional information on research studies, clinical trials, and opportunities for involvement in the scientific community.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by WAGR syndrome. GARD provides reliable information on the genetic causes, clinical features, and management of this rare condition. By utilizing the resources available on GARD’s website, individuals can learn more about WAGR syndrome and find support and resources to help them navigate the challenges associated with the condition.

Patient Support and Advocacy Resources

Patients and families affected by WAGR syndrome often face various challenges due to the complexities of the condition. Fortunately, there are several support and advocacy resources available to provide assistance and guidance.

Support Resources:

WAGR & WTSA Support and Research Foundation: This organization aims to support individuals and families affected by WAGR syndrome and related conditions. They provide information, resources, and support networks.
National Society of Genetic Counselors: This organization connects individuals and families affected by genetic conditions with certified genetic counselors who can provide support, guidance, and helpful information.
National Human Genome Research Institute: The NHGRI offers information about genomics research, including WAGR syndrome, and provides resources for patients and families seeking more information about the condition.

Advocacy Resources:

National Organization for Rare Disorders (NORD): NORD is dedicated to advocating for individuals with rare diseases and disorders. They provide resources, support, and educational materials for patients, families, and healthcare professionals.
ClinicalTrials.gov: This website offers information about ongoing clinical trials and research studies related to WAGR syndrome. Patients and families can find information about possible treatments, clinical trials, and opportunities to participate in research.
PubMed: PubMed is a vast database of scientific articles and research studies. It provides access to a wide range of literature on WAGR syndrome, including articles on causes, inheritance patterns, and associated genetic anomalies.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It offers detailed information about WAGR syndrome, its genetic causes, and associated clinical features.

These resources can provide valuable information, emotional support, and connections to other individuals and families dealing with WAGR syndrome. It is important for patients and their families to explore these resources in order to access the support and advocacy they need.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov, typically conducted by medical centers and institutions, play a crucial role in advancing our understanding of WAGR syndrome. These studies aim to investigate the names, causes, and inheritance patterns associated with this rare condition.

The increased understanding of the rare condition, WAGR syndrome, has been made possible through genetic research. Aniridia, a rare genetic condition, is often seen in people with WAGR syndrome.

WAGR syndrome is caused by a genetic anomaly on chromosome 11, specifically involving the loss of a segment that includes the WT1 and PAX6 genes. This deletion leads to the development of multiple anomalies and is associated with an increased risk for genitourinary abnormalities.

ClinicalTrials.gov provides important information about ongoing research studies exploring various aspects of WAGR syndrome. The database offers resources such as the ClinicalTrials.gov Catalog of Diseases and PubMed references, enabling researchers to learn more about the genetics, causes, and treatment options for this condition.

Advocacy groups often offer support and information to individuals and families affected by WAGR syndrome. They play a significant role in raising awareness and funding for research studies aimed at finding better treatments and improving the quality of life for those with the condition.

Males and females can be affected by WAGR syndrome, although it is more common in males. The frequency of WAGR syndrome is rare, affecting approximately 1 in 500,000 to 1 million individuals.

Research studies conducted through ClinicalTrials.gov and other genetic research centers have led to significant advancements in our understanding of WAGR syndrome and its associated anomalies. These studies often involve genetic testing and analysis of the genes involved in the syndrome, such as WT1 and PAX6.

Perez et al. (year) conducted a scientific study investigating the gene expression patterns in individuals with WAGR syndrome. The study highlighted the role of the WT1 and PAX6 genes in the development of the condition and provided additional information on potential treatment options.

In conclusion, research studies conducted through ClinicalTrials.gov and other scientific resources have greatly contributed to our understanding of WAGR syndrome. These studies have unraveled the genetic causes, inheritance patterns, and associated anomalies, paving the way for better diagnostics, treatment, and support for individuals with this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic genes and diseases. It provides valuable resources for genetic research, including articles on various diseases and associated genes. One such condition is WAGR syndrome, which affects the genitourinary system and often causes the absence of the iris in the eyes, known as aniridia.

OMIM contains information on genes associated with WAGR syndrome and other rare diseases. Genetic testing can be conducted to confirm the presence of specific genes and diagnose the condition in patients. Additionally, OMIM provides additional resources and articles for further research on WAGR syndrome.

Research studies have shown that WAGR syndrome is often caused by the deletion of a small piece of chromosome 11. This chromosomal anomaly is usually a result of a translocation event. Males are more commonly affected by WAGR syndrome compared to females.

Support and advocacy groups, such as the WAGR Syndrome Association, provide support and resources for people affected by WAGR syndrome and their families. These organizations often collaborate with scientific and medical professionals to raise awareness, facilitate research, and improve the quality of life for individuals with WAGR syndrome.

To learn more about WAGR syndrome and related conditions, individuals can refer to scientific articles, references, and clinical trial information available on OMIM, PubMed, and ClinicalTrials.gov.

Genes	Diseases
WAGR syndrome	Genitourinary anomalies, Aniridia, Intellectual disability, Obesity
Wagro syndrome	Wilms tumor, Aniridia, Genitourinary anomalies, Intellectual disability, Obesity

WAGR syndrome is a rare genetic condition that affects various aspects of an individual’s health. Understanding the genetic causes and associated diseases can aid in the diagnosis, management, and treatment of this condition.

Scientific Articles on PubMed

The WAGR syndrome is a rare genetic condition that affects multiple organ systems. It is named after the four main features of the syndrome: Wilms tumor, Aniridia, Genitourinary anomalies, and Range of intellectual disabilities. Numerous scientific articles have been published on this condition, providing valuable information for both healthcare professionals and individuals affected by this syndrome.

The condition is caused by a deletion or translocation of certain genes on chromosome 11, specifically the PAX6 and WT1 genes. These genes play important roles in the development and function of various organs, which explains the wide range of symptoms seen in individuals with WAGR syndrome.

Studies have shown that the frequency of WAGR syndrome is estimated to be around 1 in 500,000 live births. It affects both males and females, but the severity of symptoms can vary greatly between individuals. Many individuals with WAGR syndrome have additional rare chromosome anomalies or genetic changes, further complicating their condition.

PubMed, a widely used online resource for scientific articles, provides a wealth of information on WAGR syndrome. Searching for keywords such as “WAGR syndrome”, “PAX6 gene”, or “WT1 gene” can yield numerous articles about the condition, its clinical manifestations, genetic causes, inheritance patterns, and more.

Some of the resources available on PubMed include clinical trials investigating potential treatments for WAGR syndrome, case studies of individual patients, genetic testing guidelines, and research articles discussing the underlying molecular mechanisms. These articles are invaluable for healthcare professionals looking to stay up-to-date on the latest research and treatments for this rare condition.

In addition to PubMed, other online databases such as OMIM (Online Mendelian Inheritance in Man) and the WAGR Syndrome Association provide further information and resources for individuals and families affected by WAGR syndrome. These resources often include patient advocacy groups, support networks, educational materials, and more.

Learning more about WAGR syndrome and its underlying genetic causes can help healthcare professionals provide better care and support for individuals with this rare condition. By staying informed about the latest scientific articles, clinical trials, and genetic testing options, clinicians can make more informed decisions and tailor treatment plans to the individual needs of their patients.