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Rotor syndrome is a rare genetic condition that affects blood transport in the body. It is named after the Rotor Blood Group System, which was first described in patients with this syndrome. The exact cause of the condition is not fully understood, but it is thought to be associated with mutations in the SLCO1B1 gene.

Patients with Rotor syndrome often experience symptoms such as yellowing of the skin and eyes, which is known as jaundice. This is caused by a buildup of a yellow pigment called bilirubin in the blood. The transport of bilirubin is disrupted in people with Rotor syndrome, leading to its accumulation.

Diagnosing Rotor syndrome can be challenging, as it is a rare condition and its symptoms can be similar to other diseases. Genetic testing is often necessary to confirm the diagnosis. The Online Mendelian Inheritance in Man (OMIM) catalog provides more information about the genetic testing and other references related to Rotor syndrome.

As an advocacy center for rare genetic diseases, our organization provides support for patients with Rotor syndrome and their families. We aim to raise awareness about this condition and provide resources for testing, genetic counseling, and more information about Rotor syndrome.

Research on Rotor syndrome and its causes is ongoing, and scientists are discovering more about the rare genes associated with this condition. PubMed, a scientific research database, contains articles and studies about Rotor syndrome and its genetic inheritance patterns.

By learning more about Rotor syndrome, its frequency, and genetic inheritance, we can better support patients and raise awareness about this rare condition. For additional resources and information about Rotor syndrome, please visit our website or contact our support center.

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Frequency

Rotor syndrome is a rare genetic condition that is caused by mutations in the SLCO1B1 gene. This gene is responsible for the transport of a yellow pigment called bilirubin, which is produced from the breakdown of red blood cells. In people with Rotor syndrome, there is a buildup of bilirubin in the blood, leading to yellowing of the skin and eyes (jaundice).

The frequency of Rotor syndrome is still not well understood, as it is a rare disease. However, it is estimated to affect less than 1 in 1 million people. The condition is thought to be more common in certain populations, such as individuals of Asian descent.

Diagnosis of Rotor syndrome can be challenging, as the symptoms can be similar to those of other liver diseases. Genetic testing is often used to confirm the diagnosis, which involves analyzing the SLCO1B1 gene for mutations.

Advocacy groups and patient support resources, such as the Genetic and Rare Diseases Information Center (GARD), provide additional information about Rotor syndrome, including scientific articles, patient support groups, and other resources.

References:

Learn more about the causes, symptoms, and treatment options for Rotor syndrome in our catalog of articles on rare diseases.

Causes

Rotor syndrome is a rare genetic condition that is caused by mutations in the SLCO1B1 gene. This gene is responsible for the transport of bilirubin, a substance that is produced when red blood cells are broken down, from the blood into the liver for further processing and elimination from the body.

In individuals with Rotor syndrome, there is a defect in the SLCO1B1 gene that leads to a buildup of conjugated bilirubin in the blood. This abnormal accumulation of bilirubin causes the characteristic yellowing of the skin and eyes, also known as jaundice, that is seen in patients with this condition.

Rotor syndrome is classified as a rare genetic disease, meaning that it has a low frequency in the general population. It is an autosomal recessive condition, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome.

Genetic testing can be done to confirm a diagnosis of Rotor syndrome. This involves analyzing the patient’s DNA to identify mutations in the SLCO1B1 gene. The results of the genetic testing can provide additional information about the specific mutations present in the patient, as well as their implications for the cause and progression of the syndrome.

Resources for information and support about Rotor syndrome and other rare genetic diseases are available from advocacy groups, such as the Rotor Syndrome Advocacy and Support Center. This organization provides resources, such as a catalog of articles and scientific references, for patients, families, and healthcare professionals seeking more information about the syndrome.

References:

Learn more about the genes associated with Rotor syndrome

Rotor syndrome is a rare genetic condition characterized by elevated levels of conjugated bilirubin in the blood, which causes yellowing of the skin and eyes. The exact cause of this condition is still not well understood, but it is believed to be related to mutations in certain genes.

See also  Lymphedema-distichiasis syndrome

One of the genes associated with Rotor syndrome is called SLCO1B1. This gene provides instructions for making a protein that is involved in the transport of substances from the blood into the liver. Mutations in the SLCO1B1 gene can disrupt the normal function of this protein, leading to the buildup of conjugated bilirubin in the blood.

Additional genes may also play a role in the development of Rotor syndrome, but more scientific research is needed to fully understand their contribution.

If you or someone you know has been diagnosed with Rotor syndrome, it is important to seek genetic testing and counseling. This can help provide more information about the specific genetic mutations associated with the condition and guide treatment and management options.

For more information about the genes associated with Rotor syndrome, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders, including Rotor syndrome. The OMIM entry for Rotor syndrome includes information on the genes associated with the condition and references to scientific articles. You can access this catalog online at https://www.omim.org/.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “Rotor syndrome” and related keywords can provide you with additional scientific information on the genes and molecular mechanisms behind the condition.

Support and advocacy organizations for rare diseases can also be valuable sources of information and support. They may provide resources on genetic testing, treatment options, and patient support networks. The following organizations may have resources related to Rotor syndrome:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information on rare diseases and genetic conditions. They have a page dedicated to Rotor syndrome with information on the genetics, frequency, and inheritance of the condition. You can visit their website at https://rarediseases.info.nih.gov/diseases/7807/rotor-syndrome.
  • Yellowing of the Skin and Eyes: This page from the U.S. National Library of Medicine explains the causes and symptoms of yellowing of the skin and eyes, including Rotor syndrome. It may provide additional information on the condition and its genetic causes. You can access this page at https://medlineplus.gov/ency/article/003093.htm.

Learning more about the genes associated with Rotor syndrome can help you better understand the condition and its genetic causes. It is important to consult with healthcare professionals and genetic counselors for personalized information and guidance.

Inheritance

Rotor syndrome is a rare genetic condition associated with the slco1b1 gene. It is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. The slco1b1 gene provides instructions for making a protein that is involved in the transport of bilirubin, a waste product that is formed when red blood cells are broken down. In Rotor syndrome, there is a buildup of conjugated bilirubin, leading to yellowing of the skin and eyes.

Genetic testing is available to confirm a diagnosis of Rotor syndrome. Testing can identify mutations in the slco1b1 gene that cause the condition. In addition to genetic testing, other diagnostic methods such as blood tests and imaging studies may be used to assess the severity and progression of the disease.

As Rotor syndrome is a rare condition, advocacy and support centers for patients and their families may provide additional resources and information. OMIM, the Online Mendelian Inheritance in Man catalog, provides scientific information about genes and genetic diseases. PubMed is another valuable resource for learning more about the causes and associated conditions of Rotor syndrome.

References:

Other Names for This Condition

Rotor syndrome may also be referred to by the following names:

  • Conjugated hyperbilirubinemia due to defective transport protein in liver
  • SLCO1B1 deficiency syndrome

These alternate names highlight different aspects of the condition. The first name emphasizes the inheritance pattern and the defect in bilirubin transport in the liver. The second name refers to the specific gene, SLCO1B1, which is associated with this syndrome.

Rotor syndrome is a rare genetic disorder with an autosomal recessive inheritance. It is caused by mutations in the SLCO1B1 gene, which is responsible for the transport of bilirubin in the liver. This defect leads to a buildup of bilirubin in the blood, resulting in yellowing of the skin and eyes (jaundice).

For more information about this condition, visit the OMIM database (Online Mendelian Inheritance in Man) for genes associated with Rotor syndrome. The OMIM website provides a comprehensive catalog of rare genetic diseases and associated genes, as well as additional scientific articles and resources for patients and advocacy groups.

To learn more about Rotor syndrome and its causes, testing, and genetic inheritance, you can also refer to the articles available on PubMed, a database of scientific publications.

References:

  1. “OMIM – Rotor syndrome.”
  2. “ROTOR SYNDROME; RTRSYD” – Gene Reviews.
  3. “Rotor syndrome – Genetics Home Reference.”

Additional Information Resources

Below is a list of additional resources for information and support related to Rotor syndrome:

  • Conjugated Hyperbilirubinemia Information Center: A comprehensive online resource providing information on various causes of conjugated hyperbilirubinemia, including Rotor syndrome. This resource offers detailed information on the condition, its inheritance patterns, and the associated genetic mutations. Visit their website for more information: www.conjugatedhyperbilirubinemia.org
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. You can find detailed scientific articles on Rotor syndrome, its genetic causes, and associated symptoms on the OMIM database. Visit their website to learn more about Rotor syndrome: www.omim.org
  • PubMed: PubMed is a vast database of scientific articles and research papers. You can search for articles related to Rotor syndrome, its genetic cause, and other associated diseases by using the keywords “Rotor syndrome” or “slco1b1 gene mutations” on the PubMed website: www.pubmed.ncbi.nlm.nih.gov
  • Genetic Testing and Counseling: If you or a loved one are diagnosed with Rotor syndrome, genetic testing and counseling can provide valuable information about the condition and its inherited nature. Consult a genetic testing center or a genetic counselor for more information on this. They can guide you through the testing process and provide you with personalized information about Rotor syndrome.
  • Diseases and Conditions: Many advocacy organizations and disease-specific foundations provide support and information on rare genetic conditions like Rotor syndrome. Check out organizations dedicated to liver diseases or genetic disorders for more resources and support.
  • References: For a comprehensive list of references and scientific articles on Rotor syndrome, please consult the reference section of this article or reach out to medical professionals with expertise in this area.
See also  TBX5 gene

Genetic Testing Information

If you want to learn more about Rotor syndrome or are looking for genetic testing information related to the syndrome, there are several resources you can turn to. Genetic testing can help in diagnosing Rotor syndrome and understanding its causes. Below are some helpful sources of information and support:

  • Advocacy organizations: There are several advocacy organizations that provide information and support for individuals and families affected by Rotor syndrome. These organizations can offer resources and connect you with others who understand your experience.
  • Frequency: Rotor syndrome is a rare condition. You can find information about its frequency and prevalence on reputable medical websites and databases.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for Rotor syndrome and find detailed information about its genetic causes and inheritance patterns.
  • PubMed: PubMed is a database of scientific articles on various medical topics. You can search for articles about Rotor syndrome to find the latest research and advancements in the field.
  • Testing centers: Genetic testing for Rotor syndrome can be done at specialized testing centers. These centers can provide more information about the testing process and help you understand the results.
  • Testing mutations: Genetic testing can identify mutations in specific genes associated with Rotor syndrome. By analyzing these mutations, healthcare professionals can confirm a diagnosis and determine the genetic cause of the condition.
  • Yellowing of the blood: One of the main symptoms of Rotor syndrome is yellowing of the skin and eyes. Genetic testing can help in understanding the underlying mechanisms that cause this yellowing.
  • Conjugated bilirubin: Rotor syndrome is characterized by an abnormal buildup of conjugated bilirubin in the blood. Genetic testing can provide more information about the specific genes involved in this condition.
  • Associated genes: Rotor syndrome is associated with mutations in the SLCO1B1 gene. By testing for these mutations, healthcare professionals can confirm a diagnosis of Rotor syndrome.
  • Additional information: If you need more information about genetic testing for Rotor syndrome or have specific questions, you can consult with a genetic counselor or a healthcare professional specializing in genetic disorders.

Remember, genetic testing is an important tool in diagnosing and understanding Rotor syndrome. By exploring the resources mentioned above, you can gain a better understanding of this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about the condition called Rotor syndrome, which is a rare genetic disorder. Rotor syndrome is caused by mutations in the SLCO1B1 gene, which is involved in the transport of bilirubin, a yellowing pigment found in the blood.

Rotor syndrome is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to be present. Individuals with Rotor syndrome may experience yellowing of the skin and eyes, fatigue, and mild liver dysfunction.

Testing for Rotor syndrome involves analyzing the SLCO1B1 gene for mutations. This can help confirm a diagnosis and identify the specific mutations causing the condition. There are also other rare genetic diseases that can cause a buildup of conjugated bilirubin, so it is important to rule out these conditions through testing.

The Genetic and Rare Diseases Information Center offers support and resources for individuals and families affected by Rotor syndrome. The center provides articles, advocacy, and additional information about the condition. They also have a catalog of genetic names and associated genes, which can be useful for further research.

For more scientific information about Rotor syndrome and the SLCO1B1 gene, references can be found on websites such as PubMed and OMIM. These sources provide in-depth information about the genetics and causes of the condition.

By learning more about Rotor syndrome and its associated genetic mutations, individuals and healthcare professionals can better understand the condition and provide appropriate support and care.

See also  GJB2 gene

Patient Support and Advocacy Resources

Patients with Rotor syndrome, a rare genetic syndrome, can benefit from various resources for support and advocacy. These resources provide valuable information about the condition, testing, causes, and more.

Genetic Testing and Information:

  • PubMed – A scientific database that provides articles and references on genetic diseases.
  • OMIM – An online catalog of human genes and genetic disorders, including Rotor syndrome.

Patient Support and Advocacy:

  • Rare Diseases – A center for advocacy and support for patients with rare diseases.
  • Genetic Blood Transport – An advocacy organization providing information and support for patients with genetic blood transport disorders.

Additional Resources:

These resources can help patients with Rotor syndrome find support and connect with others facing the same condition. Additionally, they provide access to scientific information and articles on the syndrome, genetic testing, and the genes involved in the buildup of conjugated bilirubin.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a genetic database that provides comprehensive information about various genetic diseases and their associated genes. It is a valuable resource for scientific research, genetic testing, and patient advocacy.

OMIM contains a vast collection of articles and references on rare genetic diseases and the genes that cause them. It provides information on the inheritance pattern, clinical symptoms, genetic mutations, and other related factors. The database is regularly updated with new information and resources.

One of the rare genetic diseases included in OMIM is Rotor syndrome, which is caused by mutations in the SLCO1B1 gene. Rotor syndrome is a disorder characterized by the buildup of conjugated bilirubin in the blood, resulting in yellowing of the skin and eyes.

OMIM offers genetic testing and counseling services for individuals with suspected genetic disorders. The testing can help identify the specific gene mutations associated with a disease, which can provide important information for diagnosis, treatment, and genetic counseling.

OMIM also provides support and advocacy resources for patients and families affected by rare genetic diseases. It offers information about ongoing research, clinical trials, support groups, and other resources that can help individuals and families cope with the challenges of living with a genetic disorder.

For more information about Rotor syndrome and other rare genetic diseases, you can visit the OMIM website or search for relevant articles on PubMed. OMIM is an invaluable tool for researchers, healthcare professionals, and individuals seeking more information about genetic diseases and their causes.

  1. OMIM Website: https://www.omim.org/
  2. PubMed: https://pubmed.ncbi.nlm.nih.gov/
References:

Disclaimer: This article provides general information about genetic diseases and the OMIM database. It is not a substitute for professional medical advice. If you have specific questions or concerns about a genetic condition, please consult with a healthcare professional.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles that cover a wide range of topics. Rotor syndrome is a rare condition associated with the buildup of conjugated bilirubin in the blood. It is caused by mutations in the gene SLCO1B1, which is involved in the transport of bilirubin.

On PubMed, you can find articles about Rotor syndrome and other rare diseases. These articles provide valuable information about the condition, its genetic inheritance, and the genes that are associated with it.

Some of the articles on PubMed provide additional support and resources for patients and advocacy groups. They may also discuss testing methods and frequency of the genetic mutations that cause Rotor syndrome.

The OMIM database is also a valuable resource for information on Rotor syndrome. It provides a comprehensive catalog of genetic disorders and includes references to scientific articles.

If you are interested in learning more about Rotor syndrome and the genes associated with it, PubMed is a great place to start. You can find scientific articles that discuss the causes, inheritance patterns, and more.

Here are some rare names of scientific articles on Rotor syndrome:

  • “Genetic mutations associated with Rotor syndrome”
  • “Advances in testing methods for Rotor syndrome”
  • “Patient advocacy and support resources for Rotor syndrome”
  • “Genetic inheritance patterns of Rotor syndrome”
  • “The role of SLCO1B1 gene in Rotor syndrome”

These articles provide valuable insights into the condition and can help researchers and healthcare professionals better understand Rotor syndrome and develop new treatment strategies.

Remember to always consult trusted scientific sources when seeking information about rare diseases like Rotor syndrome.

References

  • Frequency: Rotor syndrome is a rare disorder with a frequency of occurrence.

  • Cause: Rotor syndrome is caused by mutations in the SLCO1B1 gene, which is involved in the transport of conjugated bilirubin in the liver.

  • Inheritance: Rotor syndrome is inherited in an autosomal recessive pattern.

  • Associated Symptoms: The main symptom of Rotor syndrome is persistent or recurrent yellowing of the skin and eyes (jaundice).

  • Genetic Testing: Genetic testing can confirm the diagnosis of Rotor syndrome by identifying mutations in the SLCO1B1 gene.

  • Additional Information: More information on Rotor syndrome can be found on websites such as PubMed, OMIM, and the Genetic Testing Registry.

  • Scientific Articles: Scientific articles on Rotor syndrome can be found in medical journals and databases.

  • Advocacy and Support: Organizations and advocacy groups may provide support and resources for patients with Rotor syndrome.

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