Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic disorder that primarily affects males. It is named after Charles Lowe, the physician who first described the condition in 1952. Lowe syndrome is characterized by three main features: cataracts that develop in infancy, intellectual disability, and kidney problems.

The genetic cause of Lowe syndrome has been identified as mutations in the OCRL gene, which is located on the X chromosome. This gene provides instructions for making an enzyme called OCRL, which helps regulate the levels of certain phospholipids in cells. Mutations in the OCRL gene result in a shortage of functional OCRL enzyme, leading to the signs and symptoms of Lowe syndrome.

Lowe syndrome has been assigned the OMIM number 309000 by the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information about genetic diseases. The frequency of Lowe syndrome is estimated to be approximately 1 in 500,000 individuals worldwide.

In addition to genetic testing for the OCRL gene, there are other resources available for individuals and families affected by Lowe syndrome. The Lowe Syndrome Association is an advocacy and support organization that provides information, resources, and support to individuals with Lowe syndrome and their families. ClinicalTrials.gov is a database of clinical studies that are currently being conducted, which may provide additional opportunities for research and treatment options for individuals with Lowe syndrome.

More information about Lowe syndrome can be found in scientific articles, research studies, and clinical trial publications. PubMed and the Catalog of Human Genes and Genetic Disorders are databases that contain references to articles and studies about Lowe syndrome and other related conditions. These resources can provide valuable information for individuals and families seeking to learn more about the causes, symptoms, and management of Lowe syndrome.

Frequency

Lowe syndrome is a rare genetic condition that primarily affects males. The frequency of Lowe syndrome is estimated to be between 1 in 500,000 and 1 in 1,000,000 individuals worldwide. The exact number of affected individuals is unknown, as this syndrome is often misdiagnosed or undiagnosed.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Information about the frequency of Lowe syndrome can be found in research studies and clinical trial databases such as ClinicalTrials.gov. ClinicalTrials.gov is a resource that provides information on clinical trials and studies related to various diseases, including Lowe syndrome. You can learn more about the frequency of Lowe syndrome and ongoing research by visiting this website.

In addition to ClinicalTrials.gov, other resources such as PubMed and Online Mendelian Inheritance in Man (OMIM) provide valuable information on the frequency of Lowe syndrome and associated genes. These resources also provide references to scientific articles and studies that further support the understanding of this rare genetic condition.

Gene testing helps in the diagnosis of Lowe syndrome. Mutations in the OCRL gene, which provides instructions for producing a protein involved in the regulation of phospholipids within cells, are responsible for causing Lowe syndrome. By testing the OCRL gene, healthcare professionals can confirm the diagnosis of Lowe syndrome and provide appropriate support and resources for affected individuals and their families.

Advocacy and support organizations, such as the Lowe Syndrome Association and the Lowe Syndrome Trust, play an essential role in raising awareness about Lowe syndrome and providing resources for affected individuals and their families. These organizations offer support groups, educational materials, and funding for research studies.

In summary, Lowe syndrome is a rare genetic condition that primarily affects males. The frequency of Lowe syndrome is estimated to be between 1 in 500,000 and 1 in 1,000,000 individuals worldwide. Various resources, including research studies, clinical trial databases, and advocacy organizations, provide information, support, and resources for individuals with Lowe syndrome and their families.

Causes

The main cause of Lowe syndrome is mutations in the OCRL gene, which provides instructions for producing the protein called OCRL. This gene is located on the X chromosome.

Lowe syndrome is inherited in an X-linked recessive pattern, which means that the condition primarily affects males. Females can also be affected, but it is generally less severe due to the presence of a second, normal copy of the gene.

The OCRL protein is involved in the regulation of phospholipids, which are important components of cell membranes. Mutations in the OCRL gene result in a shortage or malfunctioning of the OCRL protein, which disrupts various cellular processes.

Further information about the OCRL gene and Lowe syndrome can be found on the Online Mendelian Inheritance in Man (OMIM) database and the National Center for Biotechnology Information’s gene database (Gene). These resources provide detailed genetic and clinical information about the condition, as well as references to scientific articles and other research studies.

Genetic testing for Lowe syndrome can confirm the diagnosis by identifying mutations in the OCRL gene. Testing can be done through specialized laboratories and genetic testing centers. It is recommended to seek advice from genetic counselors and healthcare professionals to learn more about the available testing options and their associated benefits and limitations.

It is important to note that Lowe syndrome is a rare condition, and genetic testing is not the only way to diagnose it. The diagnosis is typically based on the presence of characteristic symptoms and clinical features, such as oculocerebrorenal syndrome and vision problems. Additional tests, such as urinary amino acid analysis and biochemical assays, may also be performed to support the diagnosis.

Research studies and clinical trials (registered on ClinicalTrials.gov) are ongoing to further understand the causes of Lowe syndrome, develop potential treatments, and improve patient care. These resources can provide information about ongoing studies, available treatments, and opportunities to participate in clinical trials.

It is recommended to seek support and resources from advocacy groups and rare disease organizations specializing in Lowe syndrome. These organizations can provide valuable information, support networks, and access to resources for patients, families, and healthcare professionals.

Learn more about the gene associated with Lowe syndrome

Lowe syndrome is a rare genetic disorder that affects males and causes problems with vision, kidney function, and intellectual disabilities. The gene associated with Lowe syndrome is called OCRL. Mutations in this gene lead to a deficiency or dysfunction of the protein it encodes, which is involved in various cellular processes, including the production and regulation of phospholipids.

To learn more about the gene associated with Lowe syndrome, you can explore various resources, including scientific studies, clinical trials, and patient advocacy organizations. Here are some valuable resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the OCRL gene, its function, and potential disease-causing mutations.
• ClinicalTrials.gov: This database is a valuable resource for finding ongoing clinical trials related to Lowe syndrome, which can provide additional information on the OCRL gene and potential treatment options.
• PubMed: PubMed is an extensive database of scientific articles, where you can find research papers, case studies, and reviews on the genetic and clinical aspects of Lowe syndrome.
• Nussbaum Laboratories: This research laboratory focuses on the genetics and molecular biology of oculocerebrorenal syndromes, including Lowe syndrome. Their website provides information about the OCRL gene and its role in the condition.
• Patient Advocacy Organizations: Several patient advocacy organizations offer support, information, and resources for individuals and families affected by Lowe syndrome. These organizations often provide educational materials about the condition and the associated gene.

If you or someone you know is affected by Lowe syndrome, genetic testing can help confirm the diagnosis and provide useful information for managing the condition. Genetic testing can also help identify carriers who may have an increased risk of passing the gene mutation to their children. Talk to a genetic counselor or healthcare provider for more information on testing options and their availability.

Inheritance

Lowe syndrome is a rare genetic condition that is inherited in an X-linked recessive manner. This means that the syndrome is caused by changes (mutations) in a gene located on the X chromosome. Females have two copies of the X chromosome, while males have one X chromosome and one Y chromosome.

The gene associated with Lowe syndrome is called OCRL and it provides instructions for making a protein that is involved in the regulation of phospholipids, which are important components of cell membranes. Mutations in the OCRL gene lead to a reduced or absent function of the protein, resulting in the characteristic features and symptoms of Lowe syndrome.

As Lowe syndrome is a genetic condition, genetic testing can be performed to confirm the diagnosis. Through genetic testing, specific changes in the OCRL gene can be identified. This testing can be done by specialized laboratories that offer genetic testing for rare diseases.

It is important to note that Lowe syndrome is just one of the many rare diseases caused by mutations in different genes. There are many other genetic conditions with different names and associated genes. For more information on genetic testing and other resources, you can visit websites such as Genetic and Rare Diseases Information Center, Nussbaum Medical Research Center, and ClinicalTrials.gov.

Genetic testing can provide valuable information about the cause and inheritance of Lowe syndrome. It can help in understanding the condition better and may also assist in making decisions related to family planning and future pregnancies. Genetic counseling is recommended to individuals and families who are considering genetic testing as it helps in understanding the implications of test results and provides support and guidance.

Research studies and clinical trials are also conducted to better understand Lowe syndrome and develop potential treatments. Information about ongoing studies can be found on websites such as ClinicalTrials.gov and PubMed. These studies aim to improve the management of Lowe syndrome and provide better support to affected individuals and their families.

In summary, Lowe syndrome is a rare genetic condition inherited in an X-linked recessive manner. Mutations in the OCRL gene cause the syndrome, leading to various symptoms and features. Genetic testing helps in confirming the diagnosis and understanding the inheritance pattern of the condition. Additional resources and support are available for individuals and families affected by Lowe syndrome.

Other Names for This Condition

• Oculocerebrorenal syndrome
• OCRL
• Lowe oculocerebrorenal dystrophy
• OCRL1 gene syndrome
• Cataract-oculocerebral syndrome of Lowe
• Lowe syndrome
• Lowe oculorenal syndrome
• OCRL deficiency
• Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency

Lowe syndrome, also known as oculocerebrorenal syndrome or OCRL, is a rare genetic condition that primarily affects males. It is caused by mutations in the OCRL gene, which provides instructions for making a protein called OCRL. This protein plays a role in the regulation of phospholipids, which are important for the structure and function of cells.

Individuals with Lowe syndrome may experience a range of symptoms including vision problems, developmental delays, intellectual disability, kidney abnormalities, and other physical and neurological features. The frequency of Lowe syndrome is estimated to be 1 in 500,000 to 1 million males.

There is currently no cure for Lowe syndrome, but supportive care and treatments can help manage the symptoms and improve quality of life for affected individuals. Genetic testing and counseling can help determine the specific genetic mutations associated with Lowe syndrome and provide information on inheritance patterns.

For more information about Lowe syndrome, the following resources may be helpful:

• Genetics Home Reference: A website with information about the genetic causes, inheritance patterns, and clinical features of Lowe syndrome.
• OMIM (Online Mendelian Inheritance in Man): A database of human genes and genetic disorders, including Lowe syndrome.
• ClinicalTrials.gov: A registry of clinical trials investigating new treatments and interventions for Lowe syndrome.
• PubMed: A database of scientific research articles about Lowe syndrome and related topics.
• Lowe Syndrome Association: An advocacy and support organization for individuals with Lowe syndrome and their families.

References:

1. Faucheux, B. A., Schumacher, M. M., Nussbaum, R. L. (2003). Comparative analysis of the human and mouse OCRL1 genes reveals complex alternative splicing. Gene, 317(1-2), 25-34.
2. Poletti, D., & Dall’Olio, G. (2016). Lowe Syndrome, a Rare X-Linked Disease, in Differential Diagnosis for Cataract Surgery. Case reports in ophthalmology, 7(2), 213-219.
3. Seegmiller, A.C., Dobyns, W.B. (2000). Oculocerebrorenal syndrome of Lowe. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

Additional Information Resources

Here are some additional resources for more information about Lowe syndrome:

• Lowe Syndrome Association: A support and advocacy center for individuals affected by Lowe syndrome. Visit their website here.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on the genetic causes and inheritance of rare genetic diseases. Access Lowe syndrome information on OMIM here.
• ClinicalTrials.gov: A resource that provides information on ongoing clinical trials related to Lowe syndrome and other diseases. Find clinical trials related to Lowe syndrome on ClinicalTrials.gov here.
• PubMed: A database of scientific articles and research studies. Search for articles and studies on Lowe syndrome on PubMed here.
• Genetic Testing Resources: Learn more about genetic testing options for Lowe syndrome and other genetic conditions. Find resources for genetic testing on the website of the American College of Medical Genetics and Genomics here.

These resources can provide more information on the symptoms, diagnosis, treatment, and research advances related to Lowe syndrome. They can also connect you with support groups, advocacy organizations, and other individuals who are affected by the condition.

Genetic Testing Information

Genetic testing is an important tool in understanding and diagnosing Lowe syndrome. By analyzing a person’s genes, doctors can determine if they have mutations in certain genes that are associated with the condition. This information can help in confirming a diagnosis and understanding the potential risks and prognosis for the individual.

The genetic basis of Lowe syndrome is well-established. Mutations in the OCRL gene, which provides instructions for producing a protein called OCRL, are associated with this rare condition. OCRL protein is involved in the regulation and transport of certain molecules within cells, including phospholipids. Mutations in the OCRL gene disrupt the normal function of the protein, leading to the development of Lowe syndrome.

To learn more about the genes and mutations associated with Lowe syndrome, several resources are available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the OCRL gene, as well as other genes that may be associated with the condition. The NCBI Gene database and PubMed have scientific articles and studies on Lowe syndrome and related genes. These resources can help researchers and healthcare professionals stay updated on the latest research and discoveries in this field.

Genetic testing for Lowe syndrome can be conducted through a variety of methods. Most commonly, a blood sample is taken from the patient, and the DNA is analyzed for mutations in the OCRL gene. The results of the testing can help confirm a diagnosis, provide additional information about the patient’s condition, and guide treatment decisions. It is important to note that genetic testing should always be done under the guidance of a healthcare professional trained in genetic counseling.

In addition to genetic testing, there are other resources available for individuals and families affected by Lowe syndrome. Advocacy and support groups, such as the Lowe Syndrome Association, provide information, resources, and support to those affected by the condition. ClinicalTrials.gov lists ongoing and upcoming research studies and clinical trials related to Lowe syndrome. These studies may offer opportunities for individuals to participate in research and potentially benefit from new treatments and interventions.

Overall, genetic testing and the resources available provide valuable information about the causes, inheritance pattern, and frequency of Lowe syndrome. They help researchers and healthcare professionals better understand the condition and develop targeted treatments. They also provide support and information for individuals and families affected by this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a reliable and comprehensive resource for information on Lowe syndrome. Lowe syndrome is a rare genetic condition that affects various parts of the body, including the eyes, brain, and kidneys.

This condition is caused by mutations in the OCRL gene, which is responsible for producing a protein involved in the regulation of phospholipids within cells. The absence or dysfunction of this protein leads to the signs and symptoms of Lowe syndrome.

In individuals with Lowe syndrome, the eyes are often one of the most affected organs. The condition can cause cataracts, glaucoma, and other vision problems. Additionally, individuals with Lowe syndrome may experience developmental delays, intellectual disability, and kidney abnormalities.

Diagnosis of Lowe syndrome is typically done through genetic testing, which can identify mutations in the OCRL gene. Genetic counseling and testing are also important for family members of affected individuals, as the condition can be inherited in an X-linked recessive manner.

Scientific research and studies on Lowe syndrome are ongoing to better understand the genetic causes and underlying mechanisms of the condition. PubMed, OMIM, and other scientific databases provide a wealth of information and references on the topic.

The Genetic and Rare Diseases Information Center offers additional resources and support for individuals and families affected by Lowe syndrome. They provide information on clinical trials, advocacy organizations, and other resources that can help patients and their families navigate the challenges of living with this rare condition.

It is important to note that Lowe syndrome is a rare disorder, and resources and support may be limited. However, the Genetic and Rare Diseases Information Center strives to provide the most up-to-date and comprehensive information available.

Patient Support and Advocacy Resources

Patients and families affected by Lowe syndrome can benefit from various support and advocacy resources that provide information, assistance, and a sense of community. These resources offer valuable guidance for managing the condition and navigating the challenges it presents.

• Lowe Syndrome Association (LSA): The LSA is a non-profit organization dedicated to providing support, resources, and education to individuals with Lowe syndrome and their families. The association offers a network of support groups, educational materials, and research updates.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that focuses on rare diseases. They provide support and resources for individuals and families affected by Lowe syndrome, including information on medical and social services, financial assistance, and educational resources.
• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS). GARD offers a wide range of resources, including information about Lowe syndrome, its causes, inheritance patterns, and treatment options. They also provide information on ongoing research studies and clinical trials.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive and authoritative catalog of human genes and genetic disorders. It provides information on the genetic basis of Lowe syndrome, including associated genes and their functions.
• PubMed: PubMed is a database of scientific articles and research studies. It can be used to find additional information about Lowe syndrome, including recent research findings, studies on new treatment approaches, and advancements in understanding the condition.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted around the world. It can help patients and families find ongoing studies and trials related to Lowe syndrome, gene testing, and other rare genetic conditions. It provides information about eligibility criteria, study locations, and contact information for participating centers.

These resources can provide essential support and information for individuals and families affected by Lowe syndrome. By connecting with these organizations and exploring the available resources, individuals can gain a better understanding of the condition and access the necessary support to manage the challenges it presents.

Research Studies from ClinicalTrialsgov

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare genetic condition that primarily affects males. It is caused by mutations in the OCRL gene, which plays a role in the production of phospholipids. This condition is associated with ophthalmological abnormalities, intellectual disability, and kidney dysfunction.

Research studies on Lowe syndrome are conducted to further understand the causes, effects, and potential treatments for this rare disease. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies related to Lowe syndrome.

One study listed on ClinicalTrials.gov is conducted by Nussbaum, et al. The study aims to investigate the role of phospholipids in Lowe syndrome and their impact on the vision of affected patients. The study involves testing the visual function of patients with Lowe syndrome and measuring the levels of phospholipids in their cells. The results of this study may help researchers develop new strategies for managing vision problems in individuals with Lowe syndrome.

In addition to this study, ClinicalTrials.gov provides a catalog of other research studies related to Lowe syndrome. These studies explore various aspects of the condition, including its genetic inheritance, associated diseases, and frequency among different populations. They also investigate potential treatments and supportive resources available for individuals and families affected by Lowe syndrome.

The information obtained from these research studies can contribute to a better understanding of Lowe syndrome and inform the development of improved diagnostic and therapeutic approaches. It also provides important resources for advocacy and support for individuals and families affected by this rare genetic disorder.

For more information on research studies and clinical trials related to Lowe syndrome, visit ClinicalTrials.gov or consult scientific articles and references available on PubMed and OMIM.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a vast amount of information about various genetic disorders, including Lowe syndrome.

Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare inherited disorder that primarily affects males. It is caused by mutations in the OCRL gene, which plays a crucial role in the production and regulation of phospholipids in cells.

Patients with Lowe syndrome often have a variety of symptoms, including cognitive impairment, vision problems, kidney dysfunction, and developmental delays. This syndrome can be diagnosed through genetic testing, which examines the OCRL gene for mutations.

The frequency of Lowe syndrome is extremely rare, with only a few hundred cases reported worldwide. OMIM provides information about the inheritance pattern, clinical features, and other relevant details about this disorder.

OMIM’s catalog includes detailed information about other genes and diseases as well. The database contains references to scientific articles, clinical trials on ClinicalTrials.gov, and other resources that can aid in understanding and researching genetic diseases.

By exploring the catalog on OMIM, researchers, healthcare professionals, and advocacy groups can learn more about the genetics and clinical characteristics of different diseases. This information helps in the development of diagnostic tools, treatment options, and support services for patients and their families.

Overall, OMIM serves as a valuable resource for scientific research and genetic testing. It provides a comprehensive catalog of genes and diseases, including Lowe syndrome, and offers additional support and information to advance our understanding of rare genetic disorders.

Scientific Articles on PubMed

PubMed is a database that provides access to an extensive collection of scientific articles and studies. Here are some resources on Lowe syndrome and related topics:

• Lowe Syndrome: Learn more about the genetic condition Lowe syndrome, also known as oculocerebrorenal syndrome, which affects mainly males. It is a rare disease caused by mutations in the OCRL gene.
• ClinicalTrials.gov: Explore clinical trials and studies associated with Lowe syndrome and related diseases. ClinicalTrials.gov provides valuable information about ongoing research and testing.
• Genetic Inheritance: Understand the inheritance patterns of Lowe syndrome and how genetic mutations can cause this rare condition.
• Protein and Phospholipids: Discover the role of the OCRL gene and its protein product in the regulation of phospholipids within cells. This information helps researchers understand the underlying mechanisms of Lowe syndrome.
• More about Lowe Syndrome: Access additional scientific articles and resources to learn more about the symptoms, diagnosis, and management of Lowe syndrome.
• Nussbaum Reference: Nussbaum et al. conducted a study that identified the OCRL gene as the cause of Lowe syndrome. Their research has been instrumental in understanding this rare genetic disorder.
• OMIM Catalog: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on Lowe syndrome and other genetic diseases. It serves as a valuable resource for clinicians, researchers, and advocacy groups.

These scientific articles and resources can help in furthering our knowledge about Lowe syndrome, supporting patient advocacy, and promoting research in this field.

References

• Nussbaum, R. L., McInnes, R. R., & Willard, H. F. (2007). Thompson & Thompson Genetics in Medicine (7th ed.). Elsevier Saunders.
• OMIM – Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/
• Lowe Syndrome. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/lowe-syndrome
• Lowe Syndrome. (n.d.). Retrieved from