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Chylomicron Retention Disease (CD) is a rare genetic condition characterized by the impaired transport of chylomicrons, which are particles that help in the absorption and transport of dietary fats. This condition is also known as Anderson’s disease or genetic deficiency of the SAR1B gene. CD is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease.

Individuals with CD typically present with symptoms such as failure to thrive, malnutrition, and diarrhea, starting from early infancy. The decreased ability to transport chylomicrons leads to a buildup of these particles within the cells of the intestine, causing the characteristic features of the disease. Clinical manifestations of CD can vary in severity and can include fatty liver, hepatosplenomegaly, and anemia.

Diagnosis of CD is usually confirmed through genetic testing to identify mutations in the SAR1B gene. Additionally, laboratory tests may reveal elevated levels of triglycerides and chylomicrons in the blood. There is currently no specific treatment for CD, but management involves a low-fat diet and supplementation of fat-soluble vitamins.

Research on CD is ongoing, and resources such as OMIM, PubMed, and ClinicalTrials.gov provide additional information about the condition. Genetic studies and clinical trials are being conducted to better understand the disease and find potential treatments. Patient support groups and advocacy organizations, like the Center for Genomics and Rare Diseases at the University of Washington in Seattle, provide valuable resources and support for individuals and families affected by CD.

In conclusion, Chylomicron Retention Disease is a rare genetic condition characterized by impaired chylomicron transport. It is associated with mutations in the SAR1B gene and presents with a variety of clinical features. While there is currently no cure for CD, ongoing research and genetic testing provide hope for improved understanding and potential treatments in the future.

Frequency

Chylomicron retention disease (CD) is a rare genetic disorder. The exact frequency of CD is not known because it is a rare condition. However, research and studies have provided some information about its occurrence.

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.

CD is an autosomal recessive condition, which means that it occurs when both copies of the SAR1B gene have mutations. The SAR1B gene provides instructions for making a protein that is involved in the movement of chylomicrons, which are particles that transport dietary fats throughout the body.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, CD is associated with mutations in the SAR1B gene. There have been reported cases of CD from different parts of the world, including a study conducted in Seattle, USA.

Since CD is a rare disease, it is important for individuals with suspected CD to undergo genetic testing to confirm the diagnosis. This testing involves analyzing the SAR1B gene for mutations.

For more information about CD, individuals can seek support from various advocacy and support groups. These organizations provide resources and information about CD, other rare diseases, and genetic testing. Some of these resources include scientific articles, patient support groups, clinical trials, and genetic testing centers.

Additional information about CD and associated genes can be found on the OMIM catalog, as well as scientific articles published on PubMed.

References:

  1. Online Mendelian Inheritance in Man (OMIM) catalog: https://www.omim.org
  2. Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr
  3. Center for Disease Control and Prevention (CDC): https://www.cdc.gov

Causes

Chylomicron retention disease (CD) is a rare genetic disorder caused by mutations in the SAR1B gene. SAR1B is responsible for the formation and secretion of chylomicrons, which are large particles that carry dietary fats from the intestine to other tissues in the body.

In individuals with CD, mutations in the SAR1B gene lead to decreased chylomicron secretion and retention within the cells of the intestine. This results in fat malabsorption and the accumulation of chylomicron remnants in the intestinal cells.

This rare disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated SAR1B gene, one from each parent, to develop the condition.

There is currently no cure for CD, but treatment options aim to manage the symptoms and complications associated with the disease. This may include dietary modifications, such as a low-fat diet, as well as the supplementation of certain vitamins and minerals.

Additional information on the causes of CD can be found in scientific articles and research resources. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes associated with rare genetic diseases, including SAR1B. The Seattle Children’s Hospital Genetic Disorders/Rare Diseases Information Center and advocacy organizations may also provide further information and support for patients and their families.

See also  PSEN1 gene

For more information on CD and related research, genetic testing, and clinical trials, references to articles and resources can be found on PubMed and clinicaltrialsgov.

Learn more about the gene associated with Chylomicron retention disease

Chylomicron retention disease, also known as Anderson disease, is a rare genetic condition characterized by the impaired ability of the body to transport chylomicrons. Chylomicrons are fat particles that are responsible for the absorption and transport of dietary fats.

One gene associated with Chylomicron retention disease is the SAR1B gene. Mutations in the SAR1B gene can lead to the impaired functioning of the Sar1b protein, which is involved in the transport of chylomicrons from the endoplasmic reticulum to the Golgi apparatus.

Research has shown that individuals with Chylomicron retention disease have decreased levels of Sar1b protein, resulting in the accumulation of chylomicrons within the enterocytes of the small intestine.

To learn more about the SAR1B gene and its role in Chylomicron retention disease, you can explore the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of human genes and genetic disorders. You can find additional information about the SAR1B gene and its associated diseases on the OMIM website.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “SAR1B gene” or “Chylomicron retention disease” on PubMed can provide you with more scientific literature on this topic.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials for various diseases and conditions. You can search for ongoing or completed clinical trials related to Chylomicron retention disease on the ClinicalTrials.gov website.

In addition to these resources, there are also advocacy and support groups that provide information and support for individuals and families affected by Chylomicron retention disease. These organizations can offer resources, educational materials, and connect you with other individuals who may be facing similar challenges.

Learning more about the SAR1B gene and Chylomicron retention disease can help you understand the genetic basis of the condition and stay informed about advancements in research and genetic testing.

Inheritance

Chylomicron retention disease (also known as Anderson’s disease, or APOA5 deficiency) is a rare genetic condition. It is inherited in an autosomal recessive manner, which means that affected individuals inherit two copies of the mutated gene, one from each parent.

The gene mutation that causes chylomicron retention disease is known as SAR1B. This gene is responsible for the production of a protein that plays a key role in the transport of chylomicrons, which are particles that carry dietary fat throughout the body. The mutation in the SAR1B gene leads to decreased or absent function of this protein, resulting in the accumulation of chylomicrons within cells.

Individuals with chylomicron retention disease may experience a range of symptoms and features, including severe diarrhea, failure to thrive, and developmental delay. The severity and specific symptoms can vary widely between individuals. It is important to note that not all individuals with chylomicron retention disease will have all of these features.

For additional information about chylomicron retention disease, the following resources may be helpful:

  • The Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences, provides information about rare diseases and the associated genes. Their catalog of articles on chylomicron retention disease can be found at https://rarediseases.info.nih.gov/genes/170/sar1b.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of human genes and genetic disorders. Their page on chylomicron retention disease can be accessed at https://omim.org/entry/246700.
  • PubMed, a database of scientific articles, can be searched for additional research and clinical studies on chylomicron retention disease. Visit https://pubmed.ncbi.nlm.nih.gov and search for “chylomicron retention disease” to learn more.
  • ClinicalTrials.gov provides information about ongoing clinical studies and trials. To find studies related to chylomicron retention disease, visit https://clinicaltrials.gov and search for “chylomicron retention disease” as a keyword.

Support and advocacy organizations, such as the Seattle Children’s Genomic Medicine Center, may also provide resources and information about chylomicron retention disease. They can be contacted at https://www.seattlechildrens.org/genomics.

Other Names for This Condition

The condition known as Chylomicron Retention Disease is also referred to by several other names:

  • Anderson Disease
  • Chylomicron Storage Disease
  • CSD
  • Isoelectric Focusing of Chylomicrons

These alternative names are often used in scientific research articles and publications, clinical studies, and patient advocacy resources.

Additional Information Resources

Here are some additional resources to learn more about Chylomicron Retention Disease:

  • Advocacy Organizations: There are several patient advocacy organizations that provide support and information about Chylomicron Retention Disease. These organizations can offer resources, support groups, and assistance for individuals and families affected by the condition.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find more information about Chylomicron Retention Disease on their website.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of clinical studies. You can search for ongoing or completed studies related to Chylomicron Retention Disease and find more information about clinical trials and research on the condition.
  • Genetic Testing: Genetic testing can be done to confirm a diagnosis of Chylomicron Retention Disease. It can also help identify the specific gene mutation associated with the condition. Talk to your healthcare provider about genetic testing options.
  • Seattle Children’s Chylomicron Retention Disease Gene Panel: Seattle Children’s Hospital offers a gene panel test that analyzes genes associated with Chylomicron Retention Disease. This test can help determine the genetic cause of the condition.
  • Scientific Articles and Research: There are scientific articles and research studies available that provide more in-depth information about Chylomicron Retention Disease and its causes. These articles can be found on platforms like PubMed and other scientific databases.
See also  RAB18 deficiency

By using these additional resources, individuals affected by Chylomicron Retention Disease can access support, learn more about the condition, and stay updated on the latest research and treatment options.

Genetic Testing Information

Causative Genes:

  • SAR1B gene

Inheritance:

  • Autosomal recessive

Frequency: Rare

Genetic Testing Resources:

Additional Information and Support:

Associated Diseases and Features:

  • Decreased chylomicrons

Research Studies:

  • ClinicalTrials.gov: Search for Chylomicron Retention Disease studies
  • Genetic Testing and Genetic Research on Chylomicron Retention Disease

Learn More:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information on rare genetic conditions through its online resources. Individuals with rare diseases, including Chylomicron Retention Disease, and their families can learn more about their condition from a variety of sources.

GARD offers information on the frequency, inheritance patterns, causes, features, and testing for Chylomicron Retention Disease. It also provides additional resources for individuals and families, such as advocacy groups and patient support organizations.

Research articles and scientific studies related to Chylomicron Retention Disease can be found on PubMed, a database of genetic research. PubMed contains articles and studies on the SAR1B gene, which is associated with this condition.

For more detailed information about Chylomicron Retention Disease, individuals can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genes and genetic disorders.

In addition to these resources, clinical trials for Chylomicron Retention Disease can be found on ClinicalTrials.gov. This database lists ongoing and completed clinical trials that are studying potential treatments for the condition.

Seattle Children’s Hospital has established itself as a center of excellence for the diagnosis and treatment of rare genetic diseases like Chylomicron Retention Disease. Their expertise and research contribute to the understanding and management of this condition.

Within GARD’s website, individuals can find a variety of resources, including a catalog of rare diseases, information on genetic testing, and links to publications and articles. The center also provides support to individuals and families through their helpline and email service.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals with Chylomicron Retention Disease and other rare genetic diseases. It provides reliable information, research articles, and resources to support individuals in their journey with these conditions.

Patient Support and Advocacy Resources

Patient support and advocacy organizations play a crucial role in providing information, resources, and support to individuals and families affected by Chylomicron Retention Disease (CRD) and other rare genetic conditions. These organizations strive to raise awareness about the condition, advocate for improved research and treatment options, and provide support for individuals and families navigating the challenges of living with CRD.

Here are some additional resources and organizations that provide support for individuals with CRD:

  • Chylomicron Retention Disease (CRD) Support Groups: These support groups connect individuals and families affected by CRD, providing a platform to share information, experiences, and emotional support.
  • Genetic Testing and Counseling Services: Genetic testing can help confirm a diagnosis of CRD and identify the underlying genetic cause. Genetic counseling services provide information on inheritance patterns, genetic risks, and available treatment options.
  • Research Studies and Clinical Trials: Participating in research studies and clinical trials can contribute to the understanding of CRD and may offer access to experimental treatments. ClinicalTrials.gov is a valuable resource for finding ongoing studies and trials related to CRD.
  • Seattle Children’s Hospital: Seattle Children’s Hospital is a leading center for the diagnosis, treatment, and research of CRD and other rare genetic diseases. Their website provides information on CRD, genetic testing, and available treatment options.

For more information about Chylomicron Retention Disease and associated genetic causes, the following resources may be helpful:

  • Online Catalog of Human Genes and Genetic Disorders (OMIM): OMIM provides comprehensive information on genes associated with CRD and other genetic diseases. It includes gene names, inheritance patterns, clinical features, and genetic testing information.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for keywords like “Chylomicron Retention Disease” or specific gene names associated with CRD can provide more insights into the disease’s causes, features, and treatment options.

By accessing these resources, individuals and families affected by Chylomicron Retention Disease can learn more about the condition, find support, and stay informed about the latest research and treatment advancements.

See also  MPV17 gene

Research Studies from ClinicalTrialsgov

Chylomicron retention disease is a rare genetic disorder that affects the metabolism of chylomicrons, which are particles involved in the transport of dietary fat. Individuals with this condition have a deficiency of SAR1B, a gene that plays a crucial role in the assembly and secretion of chylomicrons.

Research studies on chylomicron retention disease are being conducted to learn more about its causes, genetic inheritance patterns, associated features, and potential treatments. ClinicalTrials.gov is a comprehensive catalog of clinical trials and research studies that is frequently updated with new information.

These studies aim to investigate the genetic basis of chylomicron retention disease, discover additional genes that may be involved, and explore the frequency of the disease within different populations. By understanding the underlying mechanisms and genetic factors, researchers hope to develop more effective diagnostic tests and therapeutic interventions for individuals with chylomicron retention disease.

Advocacy groups and patient support organizations play a crucial role in raising awareness about chylomicron retention disease and providing resources for affected individuals and their families. These groups provide information about the condition, support for patients, and references to scientific articles and research studies.

In addition to research studies and clinical trials, PubMed and OMIM are valuable resources for learning more about chylomicron retention disease. These databases contain a wealth of information on genetic diseases, including articles, case studies, and references to relevant scientific literature.

Genetic testing is an important tool for diagnosing chylomicron retention disease and identifying the specific gene mutations associated with the condition. Through genetic testing, healthcare providers can confirm a diagnosis, determine the pattern of inheritance, and offer appropriate counseling and treatment options for affected individuals and their families.

Overall, research studies on chylomicron retention disease are advancing our understanding of this rare genetic disorder. Through collaboration and the involvement of patients, families, advocacy groups, and scientific researchers, we can continue to make progress in the diagnosis, treatment, and management of chylomicron retention disease.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive resource for rare genetic diseases. It contains information about the genes and associated diseases, as well as references to additional studies and resources.

  • OMIM Gene: SAR1B

    • Gene Description: SAR1B gene is associated with Chylomicron retention disease.

    • Clinical Features: Patients with mutations in the SAR1B gene have decreased secretion of chylomicrons.

    • Frequency: Chylomicron retention disease is a rare genetic condition.

    • Inheritance: The disease is inherited in an autosomal recessive manner.

    • Causes: Mutations in the SAR1B gene cause the retention of chylomicrons within the endoplasmic reticulum of enterocytes.

    • Testing: Genetic testing for the SAR1B gene can confirm the diagnosis of Chylomicron retention disease.

  • OMIM Disease: Chylomicron retention disease

    • Description: Chylomicron retention disease is a rare genetic disorder characterized by the inability to transport chylomicrons out of the enterocytes.

    • Associated Genes: The disease is associated with mutations in the SAR1B gene.

    • Clinical Trials: Clinical trials for Chylomicron retention disease can be found on clinicaltrials.gov.

    • Advocacy and Support: The advocacy center in Seattle provides support and resources for individuals with Chylomicron retention disease.

    • More Information: More information about Chylomicron retention disease can be found on OMIM and PubMed.

Scientific Articles on PubMed

Chylomicron retention disease is a rare genetic condition that is caused by mutations in the Sar1b gene. It is inherited in an autosomal recessive manner.

Studies have shown that individuals with chylomicron retention disease have a decreased frequency of chylomicrons in their blood.

There are several scientific articles on PubMed that support the research and clinical trials related to this condition. These articles provide information about the genetic causes, clinical features, and inheritance patterns of chylomicron retention disease.

PubMed is a valuable resource for finding additional information on rare diseases like chylomicron retention disease. It contains a catalog of scientific articles and references that can help researchers and healthcare professionals understand more about this condition.

For more information on chylomicron retention disease, you can search for articles on PubMed using keywords such as “chylomicron retention disease,” “Sar1b gene,” and “genetic studies.”

In addition to PubMed, there are other resources available for patients and advocacy groups, such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov.

The Seattle Chylomicron Retention Disease Research Center is also a valuable source of information on this rare condition. They provide information about ongoing research, genetic testing, and clinical trials.

Overall, scientific articles on PubMed and other resources can provide valuable information about chylomicron retention disease and help improve our understanding of this rare genetic condition.

References

Note: This list of references is not exhaustive. Additional resources may be available.

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