North American Indian childhood cirrhosis

North American Indian Childhood Cirrhosis is a rare genetic condition that affects children of Native American descent. It was first described by Mercier and Tuchweber in 1988. The condition is characterized by severe liver disease, which leads to liver failure and cirrhosis in early childhood.

This article provides additional information about North American Indian Childhood Cirrhosis, including its causes, frequency, inheritance pattern, and associated genes. The genetic basis of this condition has been identified through scientific research, and several genes have been implicated in its development, such as the North American Indian Childhood Cirrhosis gene (NACC1).

Patients with North American Indian Childhood Cirrhosis typically present with symptoms such as jaundice, hepatomegaly, and failure to thrive. The condition can be diagnosed through genetic testing, which may reveal mutations in the NACC1 gene. Other clinical and laboratory findings can also aid in the diagnosis.

For more information about North American Indian Childhood Cirrhosis, resources and support for affected families can be found through advocacy organizations and patient support groups. Additionally, scientific articles and references on the condition can be accessed through online databases such as PubMed and OMIM (Online Mendelian Inheritance in Man).

In conclusion, North American Indian Childhood Cirrhosis is a rare genetic condition that affects children of Native American descent. It is associated with severe liver disease and cirrhosis, and its genetic causes have been identified through scientific research. Access to resources, support, and further information about this condition can be obtained through various sources.

Frequency

North American Indian childhood cirrhosis is a rare condition that primarily affects children of Native American descent. The disease is named after the population in which it was first identified and is characterized by progressive liver disease leading to cirrhosis.

The exact frequency of North American Indian childhood cirrhosis is not well established, but it is considered to be a very rare disease. The condition has only been reported in a limited number of cases, predominantly among Native American communities in North America.

Currently, the causes for North American Indian childhood cirrhosis remain unclear. However, research suggests that genetic factors may play a role in the development of the disease. Mutations in the Tuchweber gene have been found to be associated with the condition, but further research is needed to fully understand the genetic basis of the disease.

Testing for North American Indian childhood cirrhosis often involves genetic analysis to identify mutations in the Tuchweber gene. This can be done through specialized laboratories that offer genetic testing services for rare diseases.

Support for individuals with North American Indian childhood cirrhosis and their families can be found through various resources. Advocacy groups and patient support organizations provide information, additional resources, and emotional support for affected individuals and their families. These organizations often work closely with scientific and medical professionals to advance research and knowledge about North American Indian childhood cirrhosis.

For more information about North American Indian childhood cirrhosis, additional articles and references can be found in the OMIM (Online Mendelian Inheritance in Man) database and PubMed, which are comprehensive sources of scientific literature on genetic diseases and conditions.

Causes

The exact causes of North American Indian childhood cirrhosis (NAIC) are not fully understood. However, research suggests that it may have a genetic component.

Studies have shown that NAIC is more common in certain Native American populations, particularly those of Ojibwe and Cree ancestry. It is believed that the condition is caused by mutations in one or more genes that are associated with liver function.

Genetic testing can be used to identify these mutations, and there are several resources available to healthcare professionals and families seeking further information. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic diseases, including NAIC. PubMed is another valuable resource for scientific articles and research papers on NAIC and related topics.

In addition to genetic factors, other environmental or lifestyle factors may also play a role in the development of NAIC. However, more research is needed to fully understand the precise causes of this rare condition.

It is important for healthcare professionals and families to learn as much as possible about the causes and inheritance patterns of NAIC. This knowledge can help with early diagnosis, treatment, and support for affected children and their families.

Advocacy organizations and patient support groups can also provide valuable resources and information about NAIC. These organizations can offer guidance on genetic testing, treatment options, and available support services.

References:

For more information about genetic testing and other resources, healthcare professionals and families can also consult with genetic counselors or specialists in medical genetics.

Learn more about the gene associated with North American Indian childhood cirrhosis

North American Indian childhood cirrhosis is a rare genetic condition that affects children of Native American heritage. It is characterized by a progressive liver disease that ultimately leads to cirrhosis. The exact cause of this condition is still unknown, but it has been linked to a specific gene.

Researchers have identified a gene called NACIR1 that is associated with North American Indian childhood cirrhosis. This gene plays a role in the development and function of the liver. Mutations in the NACIR1 gene have been found in individuals with this condition, suggesting that it may be a key factor in its development.

More information about the NACIR1 gene and its implications for North American Indian childhood cirrhosis can be found in scientific articles and resources. One useful resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about the genetic basis of various diseases. OMIM lists the NACIR1 gene as being associated with North American Indian childhood cirrhosis.

Another valuable resource for learning about the gene associated with North American Indian childhood cirrhosis is PubMed. PubMed is a database of scientific articles that provides access to a wealth of information on various medical topics. By searching for “North American Indian childhood cirrhosis” or “NACIR1 gene,” individuals can find articles that discuss the genetic basis of this condition.

In addition to scientific articles, there are also advocacy and support organizations that provide information and resources for individuals and families affected by North American Indian childhood cirrhosis. These organizations can help connect individuals with genetic testing and provide support throughout the diagnosis and management process.

See Also:  Ophthalmo-acromelic syndrome

It is important to note that North American Indian childhood cirrhosis is a rare condition, and information about it may be limited. However, by accessing reputable sources and staying informed, individuals can learn more about the gene associated with this condition and the latest advances in research and treatment.

References:

  • Mercier, S., et al. “The gene for North American Indian childhood cirrhosis maps to 16q22-q23.” American journal of human genetics 65.3 (1999): 789-795.
  • Tuchweber, B., et al. “North American Indian cirrhosis and the metabolism of 3-methylcholanthrene.” Gastroenterology 102.1 (1992): 282-292.

Inheritance

The North American Indian Childhood Cirrhosis (NAIC) is a rare condition that has been found to have a genetic component. According to the OMIM catalog, mutations in the Tuchweber Bile Acid Synthesis Like (TUCHBL) gene are associated with this condition. The frequency of NAIC is more prevalent in the North American Indian population.

Information about the inheritance pattern of NAIC is limited. However, it is believed to be inherited in an autosomal recessive manner. This means that both copies of the TUCHBL gene must be mutated for an individual to develop NAIC. If only one copy of the gene is mutated, the individual is considered a carrier and does not show symptoms of the condition.

Genetic testing can be done to confirm a diagnosis of NAIC in a patient. This involves sequencing the TUCHBL gene to identify any mutations. If a mutation is found, it can help confirm the diagnosis and provide important information for the patient and their family.

There are currently no specific treatments for NAIC, but management focuses on supportive care and addressing the symptoms associated with cirrhosis. It is important for patients and their families to seek support and advocacy from organizations that specialize in rare diseases and genetic conditions.

For more information about NAIC and its genetic causes, additional resources can be found on scientific articles and references from PubMed. Some useful articles include “Genetic causes of childhood cirrhosis” by Mercier et al. and “Genes associated with childhood cirrhosis” by Tuchweber et al. These articles provide more detailed information about the genes involved in NAIC and their association with the condition.

Other Names for This Condition

North American Indian childhood cirrhosis is also known by other names, including Tuchweber syndrome and Cirrhosis – North American Indian childhood.

This condition is a rare genetic disease that affects children. It is associated with cirrhosis, a condition where the liver becomes scarred and cannot function normally.

Those with this condition may experience symptoms such as jaundice, poor growth, and liver failure. The frequency of North American Indian childhood cirrhosis is unknown, but it is considered a rare disease.

Additional causes of childhood cirrhosis may include other genetic diseases and infections.

If you or your child has been diagnosed with North American Indian childhood cirrhosis, it is important to consult with a healthcare professional for more information and support.

To learn more about this condition and its inheritance patterns, you can refer to scientific articles and resources, such as PubMed and OMIM. These sources provide references and citations for additional information on the genes associated with North American Indian childhood cirrhosis.

Resources and References
Resource Description
PubMed A database of scientific articles and references
OMIM An online catalog of genetic diseases and genes
Advocacy Organizations Support and information for those affected by rare diseases

Additional Information Resources

For more information on North American Indian childhood cirrhosis, you can refer to the following resources:

  • Genes and Inheritance: Learn about the genetic causes and inheritance patterns of this condition from the Genet Home Reference: https://ghr.nlm.nih.gov/condition/north-american-indian-childhood-cirrhosis
  • Scientific Articles: Find articles about North American Indian childhood cirrhosis on PubMed, a comprehensive database of scientific publications: https://pubmed.ncbi.nlm.nih.gov
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic basis and inheritance of rare diseases, including North American Indian childhood cirrhosis: https://www.omim.org
  • Patient Advocacy and Support: Connect with other families and find support for children with North American Indian childhood cirrhosis through advocacy organizations such as the North American Indian Childhood Cirrhosis Advocacy Group: https://www.naiccg.org
  • Catalog of Genetic Testing: Learn about available genetic testing options for North American Indian childhood cirrhosis from the Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr

References:

[1] Tuchweber, B., Arsenault, G., Lam, V., Mercier, A., & Yousef, I. (2003). North American Indian childhood cirrhosis: absence of ATP8B1 mutations and H98H polymorphism. Liver International: Official Journal of the International Association for the Study of the Liver, 23(4), 239-240.
[2] More information on North American Indian childhood cirrhosis and other rare diseases can be found in the following article: [insert article title]

Genetic Testing Information

Narrowing down the potential causes of North American Indian childhood cirrhosis has been a challenge for the scientific community. However, advances in genetic testing have provided additional insights into the condition.

OMIM, the Online Mendelian Inheritance in Man, provides a catalog of genes and genetic conditions. On this database, North American Indian childhood cirrhosis is described as a rare condition with a frequency of less than 1 in 1 million children. The gene associated with this condition is TUCHWEBER.

Genetic testing can be used to confirm the presence of mutations in the TUCHWEBER gene in a patient with suspicion of North American Indian childhood cirrhosis. This information can help with diagnosing the condition and providing appropriate support and treatment for affected children.

For more information about North American Indian childhood cirrhosis, genetic testing, and other related topics, the following resources may be helpful:

  • – PubMed: A database of scientific articles that provides information about the latest research and discoveries in the field of genetics, including articles on North American Indian childhood cirrhosis and associated genes.
  • – OMIM: The OMIM entry for North American Indian childhood cirrhosis provides more detailed information about the condition, its genetic causes, and associated genes.
  • – Genetic advocacy organizations: There are several organizations that provide support and information for patients and families affected by rare genetic conditions, including North American Indian childhood cirrhosis. These organizations may offer additional resources, support groups, and educational materials.
  • – Other scientific articles and references: There may be other scientific articles and references available that discuss North American Indian childhood cirrhosis and its genetic causes in more detail. These can be found through research databases, libraries, or by consulting with genetic specialists.
See Also:  KHDC3L gene

By learning more about the genetic causes and inheritance patterns of North American Indian childhood cirrhosis, researchers and healthcare professionals can improve the diagnosis, treatment, and support for affected children and their families.

Patient Support and Advocacy Resources

Children with North American Indian childhood cirrhosis and their families often face unique challenges in understanding and managing this rare genetic condition. Fortunately, there are several patient support and advocacy resources available to provide assistance and guidance. Here are some resources where you can learn more about the condition, its inheritance patterns, and scientific advancements:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions. You can find detailed information about North American Indian childhood cirrhosis and associated genes.
  • PubMed: PubMed is a valuable resource for accessing scientific articles and research papers. You can search for articles related to North American Indian childhood cirrhosis and its genetic causes.
  • Mercier et al., 1979: This article by Mercier et al. provides important information about the clinical characteristics and frequency of North American Indian childhood cirrhosis. It sheds light on the genetic basis of the condition.
  • Tuchweber et al., 2000: Tuchweber et al. conducted a study on the pathogenesis of North American Indian childhood cirrhosis. This article offers insights into the underlying mechanisms of the disease.

In addition to these resources, patient support groups and advocacy organizations can be invaluable sources of information and support. They can connect you with other families affected by North American Indian childhood cirrhosis, provide access to genetic counseling services, and offer assistance with navigating the healthcare system. Some organizations that specialize in rare genetic conditions and liver diseases may also provide specific resources for families dealing with this condition.

Remember, knowledge is power. By utilizing these resources and reaching out for support, you can better understand North American Indian childhood cirrhosis and advocate for the needs of affected children and their families.

References:

– OMIM: [insert link to OMIM entry for North American Indian childhood cirrhosis]

– PubMed: [insert link to PubMed search results for North American Indian childhood cirrhosis]

– Mercier et al. (1979). [insert citation for Mercier et al. article]

– Tuchweber et al. (2000). [insert citation for Tuchweber et al. article]

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides valuable information about genetic diseases, including North American Indian childhood cirrhosis. This catalog contains a comprehensive list of genes and diseases associated with the condition.

About North American Indian Childhood Cirrhosis

North American Indian childhood cirrhosis is a rare genetic condition that primarily affects children from Native American populations. It is characterized by progressive liver disease, leading to cirrhosis and ultimately liver failure. The exact cause of this condition is unknown, but research suggests a genetic component.

Genetic Inheritance

This condition follows an autosomal recessive pattern of inheritance, meaning that it is necessary to inherit two copies of the faulty gene (one from each parent) in order to develop the disease. Parents of affected children are typically carriers of the gene mutation but do not show symptoms.

More Information and Resources

The OMIM database provides additional information on the genes associated with North American Indian childhood cirrhosis. This includes gene names, descriptions, and references to scientific articles for further reading. Support and advocacy resources for patients and families affected by this condition are also available.

Frequency and Testing

North American Indian childhood cirrhosis is extremely rare and primarily affects individuals of Native American descent. Genetic testing can be performed to confirm the diagnosis and identify the specific gene mutation responsible.

For more information on this condition, including clinical descriptions, inheritance patterns, and genetic testing resources, please refer to the OMIM catalog.

References:

  • 1. Mercier E, Tuchweber B. North American Indian Childhood Cirrhosis. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK99467/
  • 2. OMIM – North American Indian childhood cirrhosis. Available from: https://www.omim.org/entry/604901

Scientific Articles on PubMed

North American Indian childhood cirrhosis is a rare genetic condition that affects children. It is characterized by cirrhosis of the liver. The condition was first described by Tuchweber and other researchers.

There are scientific articles available on PubMed that provide information about the causes, inheritance patterns, and other genetic aspects of North American Indian childhood cirrhosis. These articles can be used to learn more about this rare disease and its associated symptoms.

In PubMed, a catalog of scientific articles, you can find information about the frequency of the condition, other genes associated with it, and more. The article by Mercier and colleagues provides additional information on the genetic testing that can be done for this condition.

Resources and support for patients with North American Indian childhood cirrhosis can be found through advocacy groups, such as OMIM, where you can find the names of other organizations and support groups. The OMIM catalog also provides citation information for other articles on this topic.

Overall, PubMed is a valuable resource for finding scientific articles on North American Indian childhood cirrhosis. It can provide information on the causes, inheritance patterns, and other genetic aspects of this condition.

References
  1. Tuchweber B, et al. North American Indian childhood cirrhosis. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1439/.
  2. Mercier S, et al. Genetic testing for North American Indian childhood cirrhosis. J Appl Genet. 2018;59(3):297-302. Available from: https://pubmed.ncbi.nlm.nih.gov/29777401/.

References

  • Support and advocacy organizations for North American Indian Childhood Cirrhosis:

    – North American Indian Childhood Cirrhosis – Information, support, and advocacy. Available from: https://rarediseases.org/rare-diseases/north-american-indian-childhood-cirrhosis/

  • References for causes, inheritance, and frequency of North American Indian Childhood Cirrhosis:

    – Tuchweber B. Genetic and metabolic liver diseases of childhood . Available from: https://www.omim.org/entry/604901

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