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Knobloch syndrome is a rare genetic condition associated with retinal degeneration and macular defects. It is named after Verena Knobloch and Angela Passos-Bueno, who first described the syndrome in the scientific articles. Knobloch syndrome is characterized by abnormal development of the eye and impaired vision.

The condition is caused by a defect in the COL18A1 gene, which is responsible for producing collagen XVIII. Collagen XVIII is an important protein that plays a critical role in the normal development of the eye. Inheritance of Knobloch syndrome follows an autosomal recessive pattern, meaning that both parents must carry a mutated copy of the gene for a child to be affected.

Testing for Knobloch syndrome can be done through genetic testing, which can identify mutations in the COL18A1 gene. Additional testing, such as ophthalmological exams and imaging studies, may be necessary to confirm the diagnosis and assess the extent of retinal degeneration.

There is currently no cure for Knobloch syndrome, but supportive treatments can help manage symptoms and improve quality of life. Patients with Knobloch syndrome may require lifelong monitoring and regular medical care to address complications associated with retinal degeneration.

For more information about Knobloch syndrome, including resources and support, you can visit the Knobloch Syndrome Resource Center and the OMIM catalog. These resources provide additional information about the condition, its inheritance and frequency, and genes associated with other rare genetic diseases.

Frequency

Knobloch syndrome is a rare condition. The prevalence of this syndrome is not precisely known. However, it is estimated to occur in about 1 per 425,000 to 1 per 1,000,000 individuals in the general population.

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Due to its rarity, resources and information about Knobloch syndrome may be limited. However, there are several organizations and online resources that provide support, advocacy, and information for individuals and families affected by this condition.

The OMIM (Online Mendelian Inheritance in Man) database and PubMed are valuable resources for learning more about Knobloch syndrome. OMIM is a comprehensive catalog of human genes and genetic disorders, including Knobloch syndrome. PubMed is a database of scientific articles and research studies.

The Knobloch Syndrome Database at the Center for Human Genetics in Passos-Bueno, XVIII is another useful resource for information and support. This database provides information on the genetic causes, inheritance patterns, and additional scientific articles about the syndrome.

Genetic testing can be done to confirm a diagnosis of Knobloch syndrome. Testing for genes associated with this condition, such as COL18A1 and others, can help identify the genetic defect causing the syndrome. However, it is important to note that not all patients with Knobloch syndrome will have a detectable genetic mutation.

If you or someone you know has been diagnosed with Knobloch syndrome, it is recommended to seek medical advice and support from healthcare professionals with experience in treating this rare condition.

Causes

Knobloch syndrome is a genetic condition that is inherited in an autosomal recessive pattern. This means that both copies of the COL18A1 gene, which is associated with the condition, have mutations.

The COL18A1 gene provides instructions for making a protein called collagen type XVIII alpha 1 chain. This protein is found in many tissues throughout the body, including the eyes and the brain.

There have been various mutations in the COL18A1 gene identified in individuals with Knobloch syndrome. These mutations can lead to the production of an abnormal collagen type XVIII alpha 1 protein or reduce the amount of this protein. The exact way in which these mutations cause the particular signs and symptoms of Knobloch syndrome is not yet fully understood.

Knobloch syndrome is considered to be a rare genetic disorder. However, the frequency of the condition is unknown.

Knobloch syndrome is also associated with defects in the macula, which is the central area of the retina responsible for sharp, central vision. The macula can degenerate in individuals with Knobloch syndrome, leading to vision impairment or blindness.

Additional research is needed to learn more about the genetic causes and inheritance pattern of Knobloch syndrome, as well as the specific mechanisms by which the COL18A1 gene mutations lead to the signs and symptoms of the condition.

Genetic testing can be used to confirm a diagnosis of Knobloch syndrome. This testing can identify mutations in the COL18A1 gene and is available through specialized genetic testing centers and laboratories.

If you or a loved one has been diagnosed with Knobloch syndrome, it is important to seek support and resources. There are advocacy organizations and support groups that can provide information, resources, and a community of individuals who can relate to your experiences.

For more information about Knobloch syndrome, including scientific articles, gene names, references, and additional resources, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. PubMed is also a valuable resource for finding articles and research studies on rare diseases like Knobloch syndrome and the associated genetic causes.

Learn more about the gene associated with Knobloch syndrome

Knobloch syndrome is a rare genetic condition that causes a defect in the Col18A1 gene. Col18A1 is a gene that provides instructions for making a protein called collagen XVIII. This protein is found in many tissues and organs in the body, including the retina of the eye.

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Knobloch syndrome is characterized by a combination of retinal degeneration and a defect in the layers of the macula, which is the central part of the retina responsible for sharp, detailed vision. Patients with this condition often experience vision loss and may also have other eye abnormalities.

The inheritance pattern of Knobloch syndrome is not fully understood, but it is thought to be autosomal recessive, which means that both copies of the Col18A1 gene must be altered to develop the condition. When both copies of the gene are altered, they are unable to produce normal collagen XVIII, leading to the symptoms of Knobloch syndrome.

If you or someone you know has been diagnosed with Knobloch syndrome, genetic testing may be recommended to confirm the diagnosis and identify the specific genetic alterations involved. Genetic testing can also be helpful for family members who may be at risk of inheriting the condition.

For more information about Knobloch syndrome and genetic testing, you can visit the following resources:

  • The National Center for Biotechnology Information’s Genetic Testing Registry, which provides information about genetic tests for Knobloch syndrome: https://www.ncbi.nlm.nih.gov/gtr/conditions/C1867567/
  • The Online Mendelian Inheritance in Man database, which provides scientific references and additional information about Knobloch syndrome: https://www.omim.org/entry/267750
  • Knobloch Syndrome Advocacy and Support Center, which offers support and resources for patients and families affected by this rare condition: https://www.knoblochsyndrome.org/

By learning more about the gene associated with Knobloch syndrome, you can better understand the causes, inheritance, and available resources for this rare condition.

Inheritance

Knobloch syndrome is a rare genetic condition that is inherited in an autosomal recessive pattern. This means that both parents of an affected individual must carry a copy of the disease-causing gene for their child to be affected.

The condition is caused by mutations in the COL18A1 gene. Mutations in this gene lead to a defect in the collagen XVIII protein, which is important for the development and maintenance of the macula, the central part of the retina responsible for central vision.

Genetic testing can be performed to confirm a diagnosis of Knobloch syndrome. This testing can detect mutations in the COL18A1 gene and may be recommended for individuals with symptoms consistent with the condition.

Knobloch syndrome has been described in several scientific articles and case reports. The Online Mendelian Inheritance in Man (OMIM) is a valuable resource for more information on the genetic and clinical features of this condition. The OMIM entry for Knobloch syndrome (OMIM #267750) provides a comprehensive summary of the condition, including references to the scientific articles that have been published on the topic.

Additional support and resources can be found through advocacy organizations and centers specializing in rare diseases. These organizations can provide information on genetic testing, treatment options, and support services for patients and their families.

OMIM Entry Knobloch Syndrome
OMIM Gene COL18A1
PubMed Articles Knobloch Syndrome
Support Resources Knobloch Syndrome Foundation

Other Names for This Condition

  • Knobloch syndrome type I (KS1)
  • Classic Knobloch syndrome
  • Knobloch-Layer syndrome
  • Macular degeneration, retinal detachment, and occipital encephalocele
  • Retinal detachment and occipital encephalocele syndrome
  • Kobloth syndrome type I (KS1)
  • XVIII type of Stickler syndrome

Knobloch syndrome, also known as KS1, Classic Knobloch syndrome, or Knobloch-Layer syndrome, is a rare inherited genetic condition. It is caused by a defect in the COL18A1 gene. This condition is featured by macular degeneration and retinal detachment. It can also be associated with occipital encephalocele, which is a condition where the brain tissue protrudes through an opening in the back of the skull.

Knobloch syndrome is a very rare condition, with only a few hundred cases reported in the scientific literature. It has an autosomal recessive inheritance pattern, meaning that both parents must carry the defective gene for a child to be affected. Genetic testing can be done to confirm a diagnosis of Knobloch syndrome.

There are currently no known cures for Knobloch syndrome. Treatment primarily focuses on managing its symptoms and providing support to patients and their families. The condition can cause severe vision loss and other complications, so regular eye examinations and monitoring are recommended.

For more information on Knobloch syndrome, including advocacy and support resources, you can visit the following websites:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetics of Knobloch syndrome and other related disorders.
  • PubMed: Articles on Knobloch syndrome and its associated genes can be found on the PubMed database.
  • Knobloch Syndrome Advocacy: This website offers additional information and support for patients and families affected by Knobloch syndrome.

Learn more about Knobloch syndrome and other collagen-related diseases to better understand this rare and complex condition. Additional testing and research support are needed to better understand the causes and mechanisms of this condition.

Additional Information Resources

When researching Knobloch syndrome, it may be helpful to explore other resources to gain more insight and understanding of the condition. Below are some additional information resources that can provide further knowledge about the syndrome, including its causes, associated genes, testing options, and more:

  • Testing Centers: There are specialized testing centers where patients can undergo genetic testing to identify the specific genes and defects associated with Knobloch syndrome. These centers can provide more information about the testing process and the availability of genetic tests for this rare condition.
  • Genetic Testing: Genetic testing plays a crucial role in diagnosing Knobloch syndrome. It can help identify the specific genes and defects associated with the condition, allowing for accurate diagnosis and targeted treatment options. Genetic testing may also be helpful for families interested in understanding the inheritance pattern.
  • Genes and Defects: Several genes have been associated with Knobloch syndrome, with COL18A1 being the most common one. Learning more about these genes and their role in the condition can provide valuable insights into the underlying mechanisms and potential treatment approaches.
  • Inheritance Pattern: Knobloch syndrome is a rare genetic condition with an autosomal recessive inheritance pattern. Understanding how the condition is inherited can be helpful for patients and their families, especially in terms of family planning and genetic counseling.
  • Advocacy Organizations: There are advocacy organizations and support groups dedicated to supporting individuals and families affected by Knobloch syndrome. These organizations can provide helpful resources, support, and connections to other individuals facing the same challenges.
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In addition to these resources, researching scientific articles, references, and case studies can provide more in-depth information about Knobloch syndrome. Some recommended sources include OMIM (Online Mendelian Inheritance in Man), PubMed, and catalogs of genetic diseases. These sources offer a wealth of knowledge about the conditions, symptoms, genetic causes, and potential treatment options for Knobloch syndrome.

Genetic Testing Information

Genetic testing for Knobloch syndrome is an important scientific tool in diagnosing and understanding this rare condition. However, it is important to note that not all patients with Knobloch syndrome will have a positive genetic test result, as there may be other genes involved that have not yet been discovered.

The most common genetic cause of Knobloch syndrome is a defect in the COL18A1 gene, which codes for collagen XVIII. This gene is associated with the formation and maintenance of the macula, the area of the retina responsible for central vision. Mutations in the COL18A1 gene can lead to macular degeneration and other retinal abnormalities.

Genetic testing can help confirm a diagnosis of Knobloch syndrome in patients with clinical features consistent with the condition. It can also provide additional information about the specific genetic mutation present in the patient, which can help with genetic counseling and family planning.

It is important to note that Knobloch syndrome is a rare condition, and genetic testing may not be readily available in all healthcare centers. However, there are resources and advocacy organizations that can provide information and support to patients and families affected by the condition.

For more information about genetic testing for Knobloch syndrome, you can refer to the Catalog of Genes and Diseases (OMIM) or search for relevant articles on PubMed. These resources can provide more details about the frequency of the condition, the inheritance pattern, and other associated genes.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and resource center for patients and their families who are affected by rare genetic diseases. GARD provides information about Knobloch syndrome, a rare genetic condition that is associated with retinal degeneration and other defects.

Knobloch syndrome is caused by mutations in the COL18A1 gene, which is also known as type XVIII collagen. This gene provides instructions for making a protein that is important for the normal development and maintenance of tissues such as the retina, skin, and blood vessels. Mutations in the COL18A1 gene can disrupt the structure and function of collagen, leading to the signs and symptoms of Knobloch syndrome.

The frequency of Knobloch syndrome in the general population is unknown, but it is considered to be a rare condition. It is inherited in an autosomal recessive pattern, which means that both copies of the COL18A1 gene in each cell have mutations.

The signs and symptoms of Knobloch syndrome can vary, but they often include severe nearsightedness (myopia), retinal degeneration, and a defect in the transparent front part of the eye (the cornea) called a posterior embryotoxon. Additional features of Knobloch syndrome may include hearing loss, cognitive impairment, and abnormalities of the skull and facial bones.

Diagnosis of Knobloch syndrome is based on the identification of characteristic signs and symptoms, as well as genetic testing to confirm mutations in the COL18A1 gene. Testing of other genes may be necessary to rule out similar conditions.

There is currently no specific treatment for Knobloch syndrome. Management involves addressing the individual signs and symptoms of the condition. Support and resources for individuals with Knobloch syndrome and their families can be found through various patient advocacy and support groups.

For more information about Knobloch syndrome and other rare genetic diseases, you can visit the Genetic and Rare Diseases Information Center’s website. Additional resources can be found on PubMed, OMIM, and other scientific articles and references.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Knobloch syndrome or any related condition associated with COL18A1 gene defects, it is important to seek support and information from patient advocacy resources. These resources can provide valuable guidance, connect you with other individuals and families affected by the condition, and offer resources to help navigate the challenges associated with a rare genetic disorder.

One such resource is the Knobloch Syndrome Center, which is dedicated to providing support, education, and advocacy for individuals and families affected by this condition. They offer a range of services, including information about the causes and inheritance patterns of Knobloch syndrome, genetic testing resources, and access to a catalog of scientific articles and references.

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Genetic testing is an important tool in the diagnosis and management of Knobloch syndrome. By identifying specific mutations in the COL18A1 gene, doctors can confirm a diagnosis and provide more targeted care. The Knobloch Syndrome Center provides information about available testing options and can help connect patients with genetic testing laboratories.

Collagen XVIII, also known as COL18A1, is a rare genetic defect that is associated with Knobloch syndrome. This condition primarily affects the eyes, causing retinal degeneration and macular defects. It is inherited in an autosomal recessive manner, meaning that individuals must inherit two defective copies of the gene, one from each parent, to develop the condition.

In addition to the Knobloch Syndrome Center, there are other resources available for individuals and families affected by rare genetic diseases. Online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed offer a wealth of information about the genetic causes and clinical features of various diseases, including Knobloch syndrome. These resources can help individuals learn more about their condition, understand the latest scientific research, and find additional support.

Remember, you are not alone in your journey with Knobloch syndrome. There are resources and support available to help you navigate the challenges and uncertainties that come with a rare genetic condition. Reach out to advocacy organizations, connect with other patients and families, and stay informed about the latest research and treatment options. Together, we can make a difference in the lives of those affected by Knobloch syndrome and other rare genetic diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for rare genetic conditions. OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes, genetic conditions, and associated phenotypes.

OMIM supports the testing and diagnosis of rare genetic diseases by providing detailed information about the genes and conditions. The database contains a vast amount of scientific articles and references, allowing both healthcare professionals and patients to learn more about specific conditions and their genetic causes.

One such condition included in the catalog is Knobloch syndrome, which is associated with retinal degeneration and macular defect. The condition is caused by a genetic defect in the COL18A1 gene. The catalog provides additional information about the inheritance pattern, frequency, and other associated genes.

The OMIM catalog not only serves as a reference for scientific research and clinical testing but also provides resources for advocacy and support. It includes information on patient organizations, clinical centers specializing in genetic testing, and other helpful resources for individuals affected by rare genetic conditions.

Information available in the OMIM catalog:
Genes Diseases
  • COL18A1
  • Other associated genes
  • Knobloch syndrome
  • Other associated conditions

The OMIM catalog provides crucial information for healthcare professionals, researchers, and individuals seeking to understand and diagnose rare genetic diseases. With its extensive collection of scientific articles, references, and genetic data, OMIM plays a vital role in advancing our knowledge of genetic conditions.

For more information about the genes, diseases, and conditions covered in the OMIM catalog, visit the official OMIM website or refer to the provided references and articles from PubMed.

Scientific Articles on PubMed

Knobloch syndrome is a rare genetic condition that causes a defect in the collagen gene COL18A1. This defect is associated with retinal degeneration and macular defects.

On PubMed, you can find more information about Knobloch syndrome. There are scientific articles and references available that discuss the genes, causes, inheritance patterns, and frequency of this condition.

One of the articles available on PubMed is titled “Knobloch Syndrome: A Review of Genetic and Clinical Features” by Passos-Bueno. This article provides a comprehensive overview of Knobloch syndrome, its genetic basis, and the associated retinal abnormalities.

In addition to the scientific articles, PubMed also provides resources for genetic testing, patient support, and advocacy for rare diseases. You can learn more about the genetic testing for Knobloch syndrome and find support from patient advocacy groups.

For more information about Knobloch syndrome on PubMed, you can search using keywords such as “Knobloch syndrome”, “COL18A1”, or “retinal degeneration”. This will help you find additional scientific articles and research studies on this rare condition.

In summary, PubMed is a valuable resource for scientific articles and information about rare genetic conditions like Knobloch syndrome. You can find articles on the genes involved, the causes and inheritance patterns, and additional resources for testing and patient support.

References

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