Generalized arterial calcification of infancy (GACI) is a rare genetic condition that affects the arteries in infants. It is characterized by the abnormal calcification of the arteries, which can lead to a range of symptoms and complications. GACI is thought to be caused by mutations in certain genes that are involved in the regulation of calcium and phosphate metabolism.

GACI is a rare disease, with a frequency of about 1 in 200,000 births. The exact causes of GACI are not fully understood, but studies have identified mutations in the genes called ENPP1 and ABCC6 as being associated with the condition. These genes are involved in the production and breakdown of an important molecule called pyrophosphate, which helps to prevent the calcification of soft tissues in the body.

Patients with GACI may experience a range of symptoms, including congestive heart failure, skeletal abnormalities, and abnormal calcium deposits in other areas of the body. Diagnosis of GACI is typically made through genetic testing, which can identify the mutations in the ENPP1 and ABCC6 genes. Additional testing, such as X-rays and echocardiograms, may also be carried out to assess the extent of arterial calcification and to monitor the functioning of the heart.

At present, there is no cure for GACI. Treatment is focused on managing the symptoms and complications of the condition. This may include medications to control blood pressure and heart failure, as well as surgeries to remove calcified deposits. Clinical trials are currently underway to investigate potential new treatments for GACI. Information on ongoing trials can be found on clinicaltrialsgov.

In conclusion, Generalized arterial calcification of infancy is a rare genetic condition that affects the arteries in infants. It is characterized by the abnormal calcification of the arteries, which can lead to a range of symptoms and complications. The condition is associated with mutations in the ENPP1 and ABCC6 genes, which are involved in the regulation of calcium and phosphate metabolism. Diagnosis is typically made through genetic testing, and treatment is focused on managing the symptoms and complications of the condition.

Frequency

Generalized arterial calcification of infancy (GACI) is a rare genetic condition affecting the connective tissues in the body. It is caused by mutations in two specific genes: ENPP1 and ABCC6. GACI is more common in infants of consanguineous parents.

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According to the Seattle Children’s Hospital, the frequency of GACI is estimated to be around 1 in 200,000 live births. It is important to note that this condition is considered to be extremely rare.

Genetic testing is necessary to confirm the diagnosis of GACI. There are several resources available for genetic testing and counseling, including the Genetic Testing Registry (GTR) and the Online Mendelian Inheritance in Man (OMIM) database.

In addition to genetic testing, clinical trials and research studies are ongoing to learn more about the causes and treatment options for GACI. ClinicalTrials.gov provides up-to-date information on clinical trials related to GACI.

There are also advocacy and support organizations for GACI, such as the Generalized Arterial Calcification of Infancy Family Support Group, which provides resources and support for patients and their families.

Patient support and resources are crucial for families affected by GACI, as it is a rare and potentially life-threatening condition. The GACI Family Support Group and other organizations are dedicated to raising awareness, providing support, and advocating for research and advancements in the understanding of GACI.

Scientific articles and references about GACI and arterial calcification in general can be found on PubMed. These resources provide important information for healthcare professionals and researchers.

In conclusion, GACI is a rare genetic condition that affects infants, causing abnormal calcification of the arteries. It is caused by genetic mutations in ENPP1 and ABCC6 genes. The frequency of GACI is extremely rare, with an estimated incidence of 1 in 200,000 live births. Genetic testing and resources are available for diagnosis and support, and ongoing research aims to improve our understanding and treatment options for this condition.

Causes

Generalized arterial calcification of infancy (GACI) is a rare genetic condition affecting the arteries of infants. It is caused by mutations in the ENPP1 or ABCC6 genes, which play a role in the production of pyrophosphate, a substance that prevents calcification in the arteries.

Research has shown that mutations in the ENPP1 or ABCC6 genes can lead to a dysfunctional pyrophosphate system, resulting in abnormal calcification of the arterial walls. This condition is characterized by excessive calcification in the arteries, particularly in the heart and major blood vessels.

Genetic testing can confirm the presence of mutations in the ENPP1 or ABCC6 genes, providing a definitive diagnosis for GACI. It is important to note, however, that not all cases of GACI are caused by mutations in these genes, suggesting that there may be other genetic factors involved in the development of the condition.

The exact inheritance pattern of GACI is still not fully understood. Some cases seem to be inherited in an autosomal recessive manner, while others may be caused by de novo mutations. Further research is needed to learn more about the inheritance patterns and genetic factors associated with GACI.

In addition to genetic factors, it is thought that abnormalities in the extracellular matrix and connective tissue may also contribute to the development of generalized arterial calcification. This suggests that there may be other genes involved in the condition that have yet to be discovered.

There are currently no known effective treatments for GACI. Management of the condition typically focuses on supportive care and reducing symptoms. This may include medications to manage blood pressure and calcium/phosphate levels, as well as regular monitoring of cardiovascular health.

For more information about GACI and related genes, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, diseases, and genetic mutations. You can find more information about GACI and related genes on the OMIM website.
  • PubMed: PubMed is a scientific research database that contains a wealth of articles and studies on various medical and genetic topics. Searching for “generalized arterial calcification of infancy” on PubMed can provide additional information and research findings.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information about ongoing and completed clinical trials. Searching for “generalized arterial calcification of infancy” on ClinicalTrials.gov may provide information about any current research studies or trials related to GACI.
  • Seattle Children’s Hospital – GeneConnect: GeneConnect is an online resource provided by Seattle Children’s Hospital that offers information and support for families affected by genetic conditions. The GeneConnect website has resources specifically dedicated to GACI and related disorders.
  • Advocacy Organizations: There may be advocacy organizations or support groups for GACI and related disorders that can provide additional information, resources, and support for patients and their families.
See also  ZIC2 gene

Learn more about the genes associated with Generalized arterial calcification of infancy

Generalized arterial calcification of infancy (GACI) is a rare genetic disorder characterized by abnormal calcium deposits in the arteries. It is thought to be caused by mutations in several genes involved in the functioning of the extracellular matrix and the regulation of pyrophosphate, a molecule that prevents calcification.

One of the genes associated with GACI is the ENPP1 gene, which provides instructions for making an enzyme called ectonucleotide pyrophosphatase/phosphodiesterase 1. Mutations in this gene can lead to reduced or absent activity of the enzyme, disrupting the normal balance of pyrophosphate and promoting arterial calcification.

Another gene associated with GACI is the ABCC6 gene, which is involved in transporting molecules across cell membranes. Mutations in this gene can impair the transport of pyrophosphate and other molecules, leading to calcification in the arteries.

Research from the Seattle Children’s Hospital has also identified mutations in the NT5E gene in individuals with GACI. The NT5E gene provides instructions for making an enzyme called CD73, which is involved in the production of pyrophosphate. Mutations in this gene can result in decreased production of CD73 and disrupt the regulation of pyrophosphate, leading to arterial calcification.

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for GACI, including information on the genes that are tested for this condition. ClinicalTrials.gov also provides resources for finding clinical trials and research studies related to GACI.

Learn more about the genes associated with GACI by exploring the following resources:

Support and information on GACI can also be found on the website of the Generalized Arterial Calcification of Infancy Center at the Seattle Children’s Hospital.

Inheritance

Generalized arterial calcification of infancy (GACI) is a rare genetic condition. It is thought to be caused by mutations in the ENPP1 gene or the ABCC6 gene. These genes encode proteins that are involved in the extracellular metabolism of inorganic pyrophosphate, a molecule that helps prevent calcification.

Studies have shown that mutations in the ENPP1 gene are associated with autosomal recessive GACI, while mutations in the ABCC6 gene are associated with autosomal dominant GACI. In autosomal recessive GACI, individuals inherit two mutated copies of the ENPP1 gene – one from each parent. In autosomal dominant GACI, individuals inherit one mutated copy of the ABCC6 gene and one normal copy.

The inheritance pattern of GACI can vary. In some cases, a de novo mutation may occur, meaning the mutation is not inherited from either parent and arises in the affected individual for the first time.

Genetic testing can be done to confirm a diagnosis of GACI and to identify the specific mutation present in an affected individual. This information can be useful for family planning, as it can help determine the likelihood of passing the condition on to future children.

It is important to note that not all individuals with mutations in the ENPP1 or ABCC6 genes will develop GACI. Additional factors, such as environmental influences or other genetic variations, may contribute to disease development and severity.

For more information on the inheritance of GACI and other related diseases, the following resources may be helpful:

  • PubMed: Provides scientific articles and studies on GACI and related topics.
  • OMIM: Offers a catalog of genes and genetic disorders, including GACI.
  • ClinicalTrials.gov: Provides information on ongoing research and clinical trials related to GACI.

Additional research is needed to further understand the causes and inheritance of GACI. Studies are ongoing to learn more about the functioning of the ENPP1 and ABCC6 genes and their role in arterial calcification.

The frequency of GACI in the general population is not well-defined, as it is a rare condition. As research and testing continue to improve, the prevalence of GACI may become better understood.

Other Names for This Condition

Generalized arterial calcification of infancy is also known by several other names, including:

  • Infantile arterial calcification
  • Infantile arterial calcinosis
  • Infantile arterial calcification syndrome
  • Generalized arterial calcification in infancy
  • Generalized arterial calcification of newborn
  • Generalized arterial calcinosis of infancy

These alternative names often reflect the various aspects of this rare genetic condition, which affects the arteries and can cause widespread calcification in the body from early infancy.

Genetic studies have identified several genes associated with generalized arterial calcification of infancy, providing additional information about the inheritance and frequency of this condition. The OMIM database provides a comprehensive catalog of genes and inheritance patterns associated with generalized arterial calcification of infancy.

Research articles and clinical trials published on PubMed and ClinicalTrials.gov provide scientific and clinical information about this condition, its associated genes, and potential treatment options. These resources can provide valuable information for healthcare professionals and researchers interested in learning more about generalized arterial calcification of infancy.

The Generalized Arterial Calcification of Infancy International Patient Registry, located at the Center for Clinical Research Excellence in Seattle, is a valuable resource for patients and families affected by this condition. The registry provides advocacy and support, as well as information about ongoing research and clinical trials.

Additional resources, such as the American Heart Association and the National Institutes of Health, also offer information and support for those affected by generalized arterial calcification of infancy. These organizations provide educational materials, research updates, and opportunities to connect with other individuals and families affected by rare diseases.

Additional Information Resources

  • General Information: The Generalized Arterial Calcification of Infancy is a rare genetic disorder that affects the arteries and other areas of the body. To learn more about this condition, you can visit the following resources:

    • OMIM: Generalized Arterial Calcification of Infancy – This online catalog provides detailed information about the condition, including its inheritance patterns, genetic causes, and clinical features.

    • Genetics Home Reference: Generalized Arterial Calcification of Infancy – This website offers an overview of the condition, its causes, and the genetic changes associated with it. It also provides resources for further research and connects you to other support and advocacy groups.

  • Publications and Articles: Stay updated with the latest research and scientific studies on Generalized Arterial Calcification of Infancy by exploring these articles:

  • Diagnostic Testing: If you suspect that your child may have Generalized Arterial Calcification of Infancy, consider these resources for diagnostic testing and genetic counseling:

    • GeneDx: Generalized Arterial Calcification of Infancy Test – This clinical genetic testing company offers a test specifically for Generalized Arterial Calcification of Infancy and related disorders. They can provide information about testing and connect you with genetic counselors.

    • ClinicalTrials.gov: Generalized Arterial Calcification of Infancy – This website lists ongoing clinical trials related to the condition. It provides information about current research and opportunities to participate in studies.

  • Support and Advocacy: Connect with others who are affected by Generalized Arterial Calcification of Infancy and find support through these organizations:

    • Soft Bones: The U.S. Hypophosphatasia Foundation – This nonprofit organization supports individuals and families affected by genetic disorders related to abnormal calcification. They offer resources, advocacy, and educational materials.

    • Generalized Arterial Calcification of Infancy (GACI) Foundation – This foundation focuses specifically on Generalized Arterial Calcification of Infancy and provides information, resources, and support for patients and families.

See also  MED13L gene

Genetic Testing Information

The condition known as generalized arterial calcification of infancy (GACI) is a rare genetic disorder that affects the arteries of infants. This rare disease is characterized by the abnormal calcification of the arteries, particularly in areas surrounding the heart.

Genetic testing plays a crucial role in diagnosing and understanding GACI. By conducting genetic testing, healthcare professionals can identify the specific gene mutations responsible for the condition, providing valuable information about the underlying causes and inheritance patterns. This information can help inform treatment decisions and guide further research into potential therapies for GACI.

Several scientific studies and research articles have been published on GACI, offering more insights into the condition and its genetic causes. The PubMed database provides a comprehensive catalog of relevant research papers and can be a valuable resource for those looking to learn more about GACI.

References and Resources:

  • Nitschke, Y., Baujat, G., Botschen, U., Wittkampf, T., du Moulin, M., Stella, J., … & Cormier-Daire, V. (2012). Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. American Journal of Human Genetics, 90(1), 25-39.

  • Center for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh. (2020). Generalized Arterial Calcification of Infancy. Retrieved from https://www.ed.ac.uk/igmm/research/cardiovascular/generalised-arterial-calcification-of-infancy

  • Genetic Testing Registry. Generalized arterial calcification of infancy. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C1837006/

  • National Institutes of Health. (n.d.). ClinicalTrials.gov. Retrieved from https://www.clinicaltrials.gov

  • Advocacy and support groups such as the GACI Global and the GACI Family Support Network provide additional resources and information for families affected by GACI.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to information on genetic and rare diseases.

Generalized arterial calcification of infancy (GACI) is a rare condition that affects the arteries. In GACI, calcium is deposited in the walls of the arteries, leading to blockages and restricting blood flow. This can affect various areas of the body, including the heart.

GACI is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the gene for the condition to be passed on to their child. GACI is associated with mutations in the genes ENPP1 and ABCC6, which are involved in the production and functioning of pyrophosphate, an extracellular molecule that helps prevent the calcification of tissues.

The Genetic and Rare Diseases Information Center is a valuable resource for patients and their families affected by GACI. GARD provides information on the condition, including its symptoms, causes, frequency, and inheritance. It also offers resources for additional support, such as advocacy groups and clinical trials.

For more information about GACI, GARD provides links to articles, research studies, and references from PubMed and OMIM. Patients and their families can learn about ongoing research and connective with other individuals affected by GACI. GARD also provides information on genetic testing for GACI and other related diseases.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for individuals affected by GACI. It offers comprehensive information on the condition, resources for support, and opportunities for participation in clinical trials. Patients and their families can turn to GARD to learn more about GACI and find additional support to help manage the condition.

Patient Support and Advocacy Resources

A rare genetic disorder called Generalized Arterial Calcification of Infancy (GACI) affects the heart and arteries of infants, causing abnormal calcification in the walls of these blood vessels. In this condition, the genes responsible for the proper functioning of extracellular pyrophosphate, a mineralization inhibitor, are broken or not carrying out their normal processes. As a result, calcium phosphate gradually accumulates in the connective tissues of various areas in the body.

For more information about this condition, patient support, and advocacy resources, the following sources can be helpful:

  • National Institute of Health’s Genetic and Rare Diseases Center (GARD): GARD provides information on rare diseases, including Generalized Arterial Calcification of Infancy. Their website offers fact sheets, a glossary of genetics terms, and links to other helpful resources. Visit their site at https://rarediseases.info.nih.gov/diseases/3994/generalized-arterial-calcification-infancy.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic basis of human diseases. They have a section dedicated to Generalized Arterial Calcification of Infancy, including details about associated genes, inheritance patterns, and clinical features. Access their database at https://omim.org/entry/208000.
  • Pediatric Cardiology Research: The Pediatric Cardiology Research team at the University of Washington in Seattle conducts research on Generalized Arterial Calcification of Infancy. Their website offers information about ongoing clinical trials, treatment options, and patient resources. Learn more at https://www.seattlechildrens.org/research/centers-programs/pediatric-cardiology-research/.
  • PubMed: PubMed is a widely used database for accessing scientific articles and research papers. Searching for “Generalized Arterial Calcification of Infancy” on PubMed can provide additional information on the condition, ongoing research, and potential treatment options. Explore the database at https://pubmed.ncbi.nlm.nih.gov/?term=Generalized+Arterial+Calcification+of+Infancy.

These resources can help patients and their families learn more about Generalized Arterial Calcification of Infancy, connect with other individuals affected by the condition, and find support and advocacy organizations.

See also  Snijders Blok-Campeau syndrome

Research Studies from ClinicalTrialsgov

Generalized arterial calcification of infancy (GACI), also called Nitschke type, is a rare genetic condition affecting the arteries in infants. It is thought to be caused by mutations in the ENPP1 gene, which plays a role in pyrophosphate metabolism. This condition results in abnormal calcification of the arterial walls, leading to impaired functioning of the heart and other areas of the body.

Research studies from ClinicalTrials.gov provide important information about this rare condition and its causes. The frequency and inheritance patterns of GACI are still being studied, and additional research is needed to learn more about the underlying genes and genetic mutations that contribute to the disease.

Currently, there are no articles on GACI in PubMed, but clinicaltrials.gov has resources for testing and advocacy for patients and families affected by this condition. The OMIM catalog also provides information about GACI and associated genes and mutat! ons.

More scientific research on generalized arterial calcification of infancy is needed to support the development of effective treatments and improve patient outcomes.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about genetic diseases and the genes associated with them. This catalog serves as a valuable resource for researchers, healthcare professionals, and patients seeking to learn more about various conditions.

One such condition that is covered in OMIM is Generalized Arterial Calcification of Infancy (GACI). GACI is a rare and severe disorder that affects the functioning of the arteries in infants. It is characterized by abnormal calcium buildup in the walls of these blood vessels, leading to their calcification and decreased blood flow.

The exact causes of GACI are not fully understood, but genetic mutations have been thought to play a significant role. OMIM provides a list of genes associated with GACI, including the ENPP1 and ABCC6 genes. These genes carry rare mutations that affect the production or functioning of proteins involved in the regulation of calcium and phosphate metabolism.

OMIM also provides information on the clinical features and frequency of GACI. It is a rare condition, with an estimated frequency of 1 in 150,000 births. Infants with GACI often present with symptoms such as arterial calcification, abnormal bone development, and cardiovascular abnormalities.

In addition to GACI, OMIM covers a wide range of other diseases and genetic conditions. Users can search for specific conditions or genes, and the database provides detailed information on their clinical features, molecular genetics, and relevant scientific articles.

For researchers and healthcare professionals, OMIM serves as a valuable tool for staying up-to-date with the latest research studies and advancements in various areas of genetic and rare diseases. OMIM also provides links to additional resources and support organizations, such as advocacy groups and clinical trial databases like ClinicalTrials.gov.

In summary, OMIM’s catalog of genes and diseases provides a comprehensive and user-friendly platform for learning about rare genetic conditions like Generalized Arterial Calcification of Infancy and exploring the underlying genetic causes. It is a valuable resource for both medical professionals and patients seeking information and support for these rare and complex disorders.

Scientific Articles on PubMed

Generalized arterial calcification of infancy (GACI), also called idiopathic arterial calcification of infancy (IACI), is a rare genetic disorder characterized by abnormal calcium deposition in the arteries and other connective tissues, affecting the function of the heart and other organs. GACI is thought to be inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to develop the condition.

Research on GACI has identified several genes that are associated with the condition, including ENPP1 and ABCC6. Mutations in these genes disrupt the normal functioning of extracellular calcification inhibitors, leading to abnormal calcium deposition in the arteries and other areas of the body.

PubMed, a database of scientific articles, provides a wealth of information on GACI and related topics. There are numerous articles available on PubMed that discuss the causes, inheritance patterns, clinical features, and treatment options for GACI.

For example, a study by Nitschke et al. published in the journal Pediatric Research provides an overview of GACI and discusses the genetic basis of the condition. The authors describe the clinical features of GACI and propose a classification system based on the age of onset and severity of the disease.

Another study by Rutsch et al. published in the journal Circulation Research explores the role of the ENPP1 gene in GACI. The authors describe the molecular mechanisms by which mutations in this gene lead to calcification of the arteries and suggest potential therapeutic strategies for the condition.

Additional studies listed on clinicaltrialsgov are investigating new treatment options for GACI, including gene therapy and the use of bisphosphonates to prevent calcification. These studies aim to improve the quality of life and life expectancy for patients with GACI.

In summary, scientific articles on PubMed provide a wealth of information about GACI and related genetic diseases. They support the ongoing research and provide valuable insights into the causes, inheritance patterns, and potential treatment options for GACI. Researchers and healthcare professionals can learn from these articles to better understand and manage this rare and complex condition.

References:

  1. Nitschke Y, Baujat G, Botschen U, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet. 2012;90(1):25-39.
  2. Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENPP1 are associated with ‘idiopathic’ infantile arterial calcification. Nat Genet. 2003;34(4):379-381.

References

  • Nitschke, Y. et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 (PMC5636944).
  • Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). Generalized arterial calcification of infancy (OMIM 208000).
  • Broken Arrows Center for Genetic Research. Generalized Arterial Calcification of Infancy (GACI): Advocacy & Support Resources. 2018.[Link]
  • Nitschke, Y. et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 (PMC5636944).
  • Bornemann, G., et al. Generalized Arterial Calcification of Infancy: Different Clinical Courses in Two Affected Siblings. Pediatrics, vol. 104, no. 3, 1999, pp. e32.[Pubmed]
  • Seattle Children’s Hospital. Generalized Arterial Calcification of Infancy (GACI). 2020.[Link]
  • Genereviews. Generalized Arterial Calcification of Infancy. 2007.[Link]
  • Research Articles on Generalized Arterial Calcification of Infancy. Pediatr Radiol, vol. 38, Suppl 2, 2008, pp. S298-S342.[Pubmed]
  • ClinicalTrials.gov. Testing for Genetic Causes of Generalized Arterial Calcification of Infancy. 2018.[Link]
  • Nitschke, Y. et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6 (PMC5636944).
  • Seattle Children’s Hospital. Generalized Arterial Calcification of Infancy (GACI). 2020.[Link]