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Tangier disease, also known as Tangier neuropathy, is a rare genetic condition that affects the function of the liver cells. It is inherited from certain genes and has a frequency of occurrence that is considered rare. The disease is associated with neuropathy, a condition that affects the nerves and results in sensory and motor dysfunction.

Research on Tangier disease is ongoing, with studies focused on understanding the causes, clinical trials, and testing for the disease. The curr collection of articles and studies related to Tangier disease can be found on PubMed, a widely used resource for medical research. Additionally, the OMIM gene catalog provides more information about the genes associated with this condition.

For patients and their families, advocacy groups and support centers provide valuable information and resources. These organizations are dedicated to raising awareness about Tangier disease and providing support to patients and their families. They offer information about the disease, testing options, and available treatments.

In conclusion, Tangier disease is a rare genetic condition that affects the function of liver cells and is associated with neuropathy. Ongoing research, advocacy, and support resources are available to learn more about the disease and provide assistance to patients and their families.

Frequency

Tangier disease is a rare genetic condition with a low frequency in the general population. It is estimated to affect approximately 1 in 1 million individuals worldwide.

Tangier disease is inherited in an autosomal recessive manner, which means that both copies of the gene responsible for the condition must be mutated in order for the disease to manifest.

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There is a limited amount of scientific research available on Tangier disease, but it is known to be caused by mutations in the ABCA1 gene. This gene is responsible for the production of a protein that helps remove cholesterol and other fats from cells and tissues in the body.

Although Tangier disease is a rare condition, there are several other genetic diseases that are associated with mutations in the ABCA1 gene. These include familial HDL deficiency, fish eye disease, and familial apolipoprotein A-I deficiency.

More information about the frequency and inheritance of Tangier disease can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

Genetic testing can be done to confirm a diagnosis of Tangier disease, and additional studies and clinical trials may be available for patients with this condition. Support and advocacy organizations can provide further information and resources for individuals and families affected by Tangier disease.

Causes

Tangier disease, also known as familial high density lipoprotein (HDL) deficiency, is a rare genetic condition that affects the function of cells and tissues in the body. It is caused by mutations in the ABCA1 gene, which is responsible for the production of a protein that plays a crucial role in the normal metabolism of cholesterol and other lipids.

Studies have shown that mutations in the ABCA1 gene result in the production of a non-functional or reduced-function ABCA1 protein. This leads to a decrease in the production of high density lipoprotein (HDL), commonly known as “good” cholesterol, and an accumulation of cholesterol in various tissues and organs, including the liver, spleen, tonsils, and nerves.

The exact frequency of Tangier disease is not known, but it is considered to be a rare condition. It has been reported in individuals from different ethnic backgrounds, although it appears to be more common in certain populations, such as those descended from individuals of Dutch and Swedish origin.

Tangier disease is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated ABCA1 gene – one from each parent – in order to develop the condition. Individuals who inherit only one copy of the mutated gene are generally asymptomatic carriers.

Diagnosis of Tangier disease is based on clinical features, including the presence of low levels of HDL cholesterol and the accumulation of lipids in tissues. Additional testing, such as genetic testing, can be performed to confirm the diagnosis.

For more information about Tangier disease, you can refer to the following resources:

  • OMIM: This is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the ABCA1 gene and its role in Tangier disease.
  • PubMed: This is a database of scientific articles and research papers. Searching for “Tangier disease” on PubMed can provide you with more information about the condition and ongoing research.
  • ClinicalTrials.gov: This website provides information about clinical trials that are currently ongoing or have been completed. Searching for “Tangier disease” on ClinicalTrials.gov can help you find any ongoing research studies or clinical trials related to the condition.
  • Genetic and Rare Diseases Information Center: This is a helpful resource that provides information about Tangier disease, including its symptoms, causes, inheritance pattern, and available treatment options.
  • Rare Diseases Advocacy Groups: There are several advocacy groups and organizations that provide support and resources for individuals and families affected by Tangier disease and other rare diseases. These organizations can provide valuable support and information for individuals seeking to learn more about the condition and connect with others who are affected by it.
See also  Retinoblastoma

Learn more about the gene associated with Tangier disease

Tangier disease is a rare genetic condition that affects the normal function of the liver. It is caused by mutations in the ABCA1 gene, which is responsible for transporting cholesterol and certain fats out of cells. The ABCA1 gene is located on chromosome 9.

Individuals with Tangier disease have a deficiency in the ABCA1 protein, which leads to an accumulation of cholesterol and fats in various tissues and organs throughout the body, including the liver, nerves, and blood vessels. This can result in symptoms such as enlarged liver, nerve damage, and a decreased ability to heal wounds.

To learn more about the ABCA1 gene and its association with Tangier disease, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information on the genetic basis of Tangier disease and other rare diseases. You can find detailed information about the ABCA1 gene and its function in the context of Tangier disease.
  • PubMed: PubMed is a database of scientific articles. By searching for “Tangier disease” and “ABCA1 gene” on PubMed, you can find scientific papers that discuss the association between the gene and the condition.
  • Genetic Testing: Genetic testing can be done to confirm a diagnosis of Tangier disease and identify the specific mutations in the ABCA1 gene. You can consult with a genetics center or healthcare provider for more information on genetic testing options.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials for Tangier disease. These trials may involve testing new treatments or studying the natural history of the condition. You can explore the website to find trials relevant to Tangier disease.

By accessing these resources, you can gain a deeper understanding of the genetic basis of Tangier disease and find additional articles, studies, and support for patients and families affected by this rare condition.

Inheritance

The inheritance of Tangier disease is autosomal recessive, which means that an individual must inherit two copies of the mutated gene to have the condition. Tangier disease is caused by mutations in the ABCA1 gene.

The ABCA1 gene provides instructions for making a protein that is involved in the movement of cholesterol and other fats from cells. Mutations in this gene impair the function of the ABCA1 protein, leading to the accumulation of fats, including cholesterol, in various tissues of the body.

Tangier disease is considered a rare genetic disorder, with an estimated frequency of less than 1 in 1 million individuals worldwide. The condition was first described in patients from Tangier Island, Virginia, which is how it got its name.

Genetic testing can be utilized to confirm a diagnosis of Tangier disease and to learn about additional genes and conditions that may be associated with the disorder. The OMIM database is a valuable resource for information on genetic disorders and the associated genes.

Current studies and research support the function of the ABCA1 gene in Tangier disease. For more information about ongoing research and clinical trials, the ClinicalTrials.gov website is a useful resource.

References and resources for more information on Tangier disease and related topics can be found in scientific articles, PubMed, and advocacy organizations for rare diseases.

In addition to Tangier disease, mutations in the ABCA1 gene have also been associated with other rare diseases such as familial high-density lipoprotein deficiency, fish eye disease, and certain forms of liver disease.

Other Names for This Condition

  • Tangier disease
  • Alpha-lipoprotein deficiency
  • High density lipoprotein deficiency
  • HDL deficiency
  • Lecithin-cholesterol acyltransferase deficiency
  • LCAT deficiency
  • Apo-A1 deficiency
  • 9997 Disease
  • Alpha-lipoprotein deficiency
  • High density lipoprotein deficiency
  • HDL deficiency
  • Lecithin-cholesterol acyltransferase deficiency
  • Lecithin:cholesterol acyltransferase deficiency
  • Lecithin:cholesterol acyltransferase deficiency, fish eye disease
  • Lecithin:cholesterol acyltransferase deficiency, general

Additional Information Resources

If you would like to learn more about Tangier disease, genetic testing, and associated conditions, the following resources may be helpful:

  • OMIM – Online Mendelian Inheritance in Man. Provides detailed information about the genes, inheritance patterns, and clinical features of Tangier disease and other rare genetic diseases. omim.org
  • NORD – National Organization for Rare Disorders. Offers information, advocacy, and support for patients and families affected by rare diseases. rarediseases.org
  • PubMed – A database of scientific articles from various research fields. You can search for articles about Tangier disease, its causes, and related research. ncbi.nlm.nih.gov/pubmed
  • GeneReviews – Provides up-to-date, expert-authored information about genetic conditions, including Tangier disease. ncbi.nlm.nih.gov/books/NBK/disease/tangier-disease
  • ClinicalTrials.gov – A registry of clinical studies and trials. You can find information about ongoing or completed trials related to Tangier disease. clinicaltrials.gov
  • Catalog of Human Genes and Genetic Disorders – Provides information on genes, genetic diseases, and genetic testing. You can search for specific genes associated with Tangier disease. ncbi.nlm.nih.gov/research/cghd

These resources can provide you with additional information about Tangier disease, its genetic causes, associated conditions, and ongoing research studies.

Genetic Testing Information

Tangier disease is a rare genetic condition that affects the function of certain genes in the body. Genetic testing can provide valuable information about the causes, inheritance, and frequency of this disease.

  • Genetic testing: Scientific studies have identified specific genes associated with Tangier disease. Testing for these genes can help confirm a diagnosis and provide information about the inheritance pattern.
  • ClinicalTrials.gov: This online resource provides information about ongoing clinical trials related to Tangier disease. Patients and their families can learn more about research studies and potentially participate in them.
  • OMIM: The Online Mendelian Inheritance in Man catalog is a comprehensive database that contains information about various genetic diseases, including Tangier disease. It includes references to scientific articles and additional resources for further reading.
  • PubMed: PubMed is a freely accessible database that contains a vast collection of scientific articles. Researchers and healthcare professionals can use PubMed to find relevant studies and articles on Tangier disease.
See also  GLB1 gene

In Tangier disease, there is a deficiency or absence of a protein that transports cholesterol in the body. This leads to the accumulation of cholesterol in various tissues, including the liver, nerves, and cells. The condition can cause neuropathy and other symptoms.

Genetic testing can help identify mutations in the specific gene responsible for Tangier disease. It can also provide information about the inheritance pattern, which can be helpful for genetic counseling and family planning.

Support groups and patient advocacy organizations can also provide valuable resources and support for individuals and families affected by Tangier disease. These organizations can offer information about the disease, connect patients with others who have the condition, and provide support for managing symptoms and accessing medical care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals affected by Tangier disease and other rare genetic conditions. Here, you can find information about the causes, inheritance patterns, and frequency of this genetic condition.

The center provides resources for genetic testing, allowing individuals to undergo testing to confirm a diagnosis of Tangier disease. Genetic testing can also be used to identify carriers of the gene mutation associated with the condition.

ClinicalTrials.gov is another important resource available through the center. This database provides information on clinical trials and research studies related to Tangier disease and other rare diseases. These studies aim to further our understanding of the disease and develop new treatment options.

The center offers additional information on the genetics of Tangier disease, including the specific gene involved and its function within cells and tissues. By learning more about the underlying genetic mechanisms, researchers can develop targeted therapies and interventions to support patients with Tangier disease.

Support and advocacy organizations are also listed on the Genetic and Rare Diseases Information Center. These organizations can provide emotional support, connect individuals with other patients and families affected by Tangier disease, and offer resources for managing the condition.

For scientific articles and publications related to Tangier disease, the center provides links to PubMed, a database of scientific literature. These articles can provide more in-depth information on the clinical manifestations, diagnosis, and treatment of Tangier disease.

In summary, the Genetic and Rare Diseases Information Center offers a comprehensive collection of resources for individuals affected by Tangier disease. From genetic testing to clinical trials, this center is a valuable hub for learning about this rare genetic condition.

Patient Support and Advocacy Resources

Tangier disease is a rare genetic condition that affects the function of certain genes in the body. It is associated with the inheritance of mutations in the ABCA1 gene, which leads to the accumulation of certain lipids in the tissues and organs.

Patients with Tangier disease may experience a variety of symptoms, including neuropathy, liver dysfunction, and other associated diseases. Diagnosis of Tangier disease can be confirmed through genetic testing, and additional testing may be done to assess the specific effects on different organs and tissues.

Patient support and advocacy resources are available to provide information, support, and guidance for individuals and families affected by Tangier disease.

Genetic Testing and Research

Genetic testing can help determine the cause of Tangier disease and provide information about the inheritance pattern and the genes involved. Testing can be done through specialized labs and centers that focus on rare genetic diseases. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and genetic disorders, including Tangier disease.

Scientific articles and research studies about Tangier disease can be found on PubMed, a database of biomedical literature. These articles provide valuable information about the condition, its causes, and potential treatments.

Patient Support and Advocacy Organizations

There are various organizations and centers that provide patient support and advocacy for individuals and families affected by Tangier disease. These organizations offer information about the disease, resources for managing symptoms, and support networks for individuals and families.

  • The Tangier Disease Center at the National Institutes of Health (NIH) is a valuable resource for patients and families seeking information about Tangier disease. The center offers information about the condition, ongoing research studies, and clinical trials.
  • The Rare Diseases Clinical Research Network (RDCRN) provides resources and support for individuals with rare diseases, including Tangier disease. The network offers information about ongoing clinical trials and research studies, as well as patient registry programs.

References

  1. Online Mendelian Inheritance in Man (OMIM). Tangier Disease. Retrieved from: https://www.omim.org/entry/205400.
  2. ClinicalTrials.gov. Tangier Disease. Retrieved from: https://clinicaltrials.gov/ct2/results?cond=Tangier+Disease&term=&cntry=&state=&city=&dist=.
  3. Current research on Tangier disease. Retrieved from: https://www.ncbi.nlm.nih.gov/pubmed?term=Tangier%20Disease.

Research Studies from ClinicalTrialsgov

The research studies from ClinicalTrialsgov provide valuable information about the neuropathy testing and genetic research associated with Tangier disease. Tangier disease is a rare genetic condition that affects the function of certain genes in the body.

Patients with Tangier disease have a rare inheritance pattern, and the disease causes certain tissues, such as the liver, to have lower than normal levels of HDL cholesterol. This condition is also known as Tangier neuropathy.

See also  Genetic Conditions Y

Research studies from ClinicalTrialsgov aim to learn more about the causes and inheritance of Tangier disease. These studies involve testing the genes associated with Tangier disease in order to understand their function and the frequency of the disease.

One of the resources provided by ClinicalTrialsgov is the OMIM database, which catalogs information about genes and genetic conditions. This database can be used to find additional research articles and references on Tangier disease.

ClinicalTrialsgov also provides information about ongoing clinical trials related to Tangier disease. These trials may involve testing new treatments or studying the effects of certain medications on patients with Tangier disease.

In addition to research studies, ClinicalTrialsgov also offers support and advocacy resources for patients with Tangier disease. These resources can help patients connect with other individuals and organizations that can provide support and information.

Overall, the research studies from ClinicalTrialsgov play a critical role in advancing our understanding of Tangier disease. By testing genes and exploring new treatment options, these studies contribute to the scientific knowledge and treatment options available for patients with this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a catalog of human genes and genetic diseases. It provides valuable information about various diseases, including Tangier disease. Tangier disease is a rare genetic condition characterized by the deficiency or malfunction of a certain protein in the body.

Tangier disease is associated with neuropathy, a condition that affects the function of nerve cells. This catalog provides additional information about the genes and associated diseases involved in Tangier disease. It also includes information about the clinical trials, research studies, and scientific articles related to this condition.

The catalog includes a list of genes that are associated with Tangier disease and provides information about their functions. It also provides information about the inheritance pattern and the frequency of the disease in the population.

For patients and healthcare providers, this catalog is a valuable resource to learn more about the genetic causes, clinical features, and testing options for Tangier disease. It also provides advocacy and support resources for those affected by this rare condition.

References to scientific articles and research studies can be found in the catalog, including citations from PubMed and ClinicalTrials.gov. These references further the understanding of Tangier disease and provide a basis for future research.

In addition to Tangier disease, the catalog includes information about other rare genetic diseases and their associated genes. It provides a comprehensive overview of the genes and diseases cataloged in OMIM, making it a valuable resource for researchers, healthcare providers, and patients.

Resources available in the OMIM catalog:
Genes Diseases ClinicalTrials.gov
Tangier disease Neuropathy Link to clinical trials for Tangier disease
Additional genes associated with Tangier disease Other associated diseases Link to clinical trials for associated diseases

By visiting the OMIM website or accessing the catalog, researchers, healthcare providers, and patients can find comprehensive information about Tangier disease and other related genetic conditions. This information can aid in research, diagnosis, and management of these diseases.

Scientific Articles on PubMed

  • Tangier disease is a rare genetic condition associated with the dysfunction of certain genes involved in lipid metabolism.
  • Studies have shown that Tangier disease is caused by mutations in the ABCA1 gene.
  • This condition is characterized by the absence or severe reduction in the levels of high-density lipoprotein (HDL) cholesterol in the blood.
  • Tangier disease is also associated with the accumulation of cholesterol esters in various tissues, including the liver, spleen, tonsils, and other organs.
  • Scientific articles on PubMed provide more information about the genetic causes of Tangier disease and its associated clinical features.
  • Research on Tangier disease has also explored the relationship between this condition and other rare diseases, such as neuropathy.
  • The frequency of Tangier disease in the population is extremely rare, with only a few documented cases.
  • PubMed provides additional resources, including references and citations, for further reading on the topic of Tangier disease.
  • ClinicalTrials.gov is another useful resource for finding ongoing research studies and clinical trials related to Tangier disease.
  • Advocacy and patient support groups can provide valuable information and resources for individuals and families affected by Tangier disease.

References

Scientific articles and studies:

Additional resources:

Clinical trials and genetic testing:

Learn more about Tangier disease:

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