ENPP1 gene, also known as pyrophosphatase/phosphodiesterase 1, is a gene that plays a crucial role in controlling calcium levels in the body. Mutations in the ENPP1 gene can cause a variety of disorders and diseases, including generalized arterial calcification of infancy (GACI) and hypophosphatemic rickets. This gene codes for a protein that is responsible for regulating the amount of calcium in the blood and preventing abnormal calcification of tissues.
Scientific studies have shown that mutations in the ENPP1 gene can lead to changes in the structure and function of the protein it codes for. These changes can disrupt the normal calcium balance in the body, leading to calcium deposits in the skin, arteries, and other tissues. GACI is a rare hereditary disease characterized by arterial calcification in infancy, and hypophosphatemic rickets is a condition that causes soft and weak bones due to low levels of phosphate in the blood.
This article provides additional information on the ENPP1 gene, including its genetic testing and interaction with other genes and proteins. The ENPP1 gene is listed in various genetic databases, such as OMIM, PubMed, and the Genetic Testing Registry, which are important resources for researchers and healthcare professionals studying diseases related to calcium metabolism and calcification disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the ENPP1 gene can cause various health conditions affecting the skin and the body’s ability to control calcium levels. These changes are associated with several disorders, including generalized arterial calcification of infancy (GACI) and hypophosphatemic rickets, among others.
GACI is a rare genetic disorder that leads to the calcification of arteries and other soft tissues in infancy. It is caused by changes in the ENPP1 gene, which encodes the enzyme pyrophosphatase/phosphodiesterase 1. The ENPP1 gene plays a crucial role in regulating the levels of calcium and phosphate in the body. Changes in this gene disrupt the normal function of the enzyme, leading to abnormal calcium deposition in the arterial walls and other tissues.
Hypophosphatemic rickets is another condition associated with genetic changes in the ENPP1 gene. This disorder is characterized by low levels of phosphate in the blood, leading to skeletal abnormalities and impaired bone mineralization. The specific genetic changes in the ENPP1 gene responsible for hypophosphatemic rickets are listed in resources such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog.
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For individuals with suspected genetic changes in the ENPP1 gene, diagnostic testing is available to confirm the presence of specific variants. This testing can be done through specialized laboratories or genetic testing companies. Healthcare providers can provide further information on appropriate testing options and resources.
In addition to scientific articles and databases, there are also patient registries and online resources available for individuals and families affected by these genetic changes. These resources provide information, support, and additional references for understanding and managing the associated health conditions.
- Cole, D. E. C., & Nitschke, Y. (2012). Hereditary Arterial and Articular Calcification: New Advancements in Identifying Genetic Causes of Disease. Current Osteoporosis Reports, 10(2), 151–157. PubMed.
- Nitschke, Y., & Rutsch, F. (2012). Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts. Calcified Tissue International, 90(2), 103–121. PubMed.
- Rutsch, F., Nitschke, Y., & Terkeltaub, R. (2011). Genetics in Arterial Calcification: Pieces of a Puzzle and Cogs in a Wheel. Circulation Research, 109(5), 578–592. PubMed.
- Online Mendelian Inheritance in Man (OMIM). ENPP1 Gene. Retrieved from https://omim.org/entry/173335.
Cole disease is a generalized arterial calcification of infancy (GACI) caused by mutations in the ENPP1 gene. It is a rare hereditary disease characterized by abnormal calcification of the arteries throughout the body.
Generalized arterial calcification of infancy (GACI) is one of the conditions related to genes encoding pyrophosphatase/phosphodiesterase (ENPP1) enzymes. In Cole disease, mutations in the ENPP1 gene disrupt the normal function of the protein, leading to the abnormal accumulation of calcium and phosphate in the arteries.
The information on Cole disease can be found in scientific articles and databases such as PubMed, OMIM, and Genet Testing Registry, where the associated gene, symptoms, and clinical testing information are listed.
Genetic changes in the ENPP1 gene are the primary cause of Cole disease. These changes can be identified through genetic testing in individuals suspected of having the disease.
Calcification of arteries in Cole disease affects various organs, including the skin. It can lead to severe complications, such as heart failure and restricted blood flow to different parts of the body.
Additional resources about Cole disease can be found in scientific articles, health databases, and resources listed in the references.
- Nitschke Y, et al. Generalized arterial calcification of infancy: Treatment options and recent advances. Curr Treat Options Cardiovasc Med. 2017;19(7):53. Epub 2017 Jun 7. PMID: 28593432.
- Generalized arterial calcification of infancy. Genetics Home Reference. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/generalized-arterial-calcification-of-infancy. Accessed March 29, 2022.
- Gene Reviews. NCBI. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1149/. Accessed March 29, 2022.
This article provides general information on Cole disease and its associated genetic changes. For more specific and up-to-date information, please consult relevant scientific articles and healthcare professionals.
Generalized arterial calcification of infancy
Generalized arterial calcification of infancy (GACI) is a rare genetic disorder that leads to abnormal calcium deposits in the walls of arteries throughout the body. These calcium deposits can cause narrowing or blockage of the arteries, leading to serious complications such as heart failure or stroke.
GACI is caused by mutations in the ENPP1 gene, which provides instructions for making an enzyme called ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This enzyme plays a critical role in controlling the levels of calcium and phosphate in the body. Mutations in the ENPP1 gene can disrupt the normal function of the enzyme, leading to abnormal calcium deposition in the arteries.
Testing for mutations in the ENPP1 gene can be performed to confirm a diagnosis of GACI. This genetic testing is typically done using a blood or skin sample. Additional tests, such as imaging studies or blood tests, may also be used to assess the extent of arterial calcification and evaluate the overall health of the individual.
GACI is sometimes associated with other conditions, such as hypophosphatemic rickets or changes in the genes or proteins controlling calcium and phosphate levels in the body. Therefore, genetic testing may also include screening for these associated conditions.
There are limited treatment options for GACI, and management typically focuses on relieving symptoms and preventing complications. This may involve medications to control calcium and phosphate levels, surgical interventions to address arterial blockages, or supportive care for heart failure or other complications.
For more information on GACI, related genes, and associated conditions, resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed can provide valuable articles and references. Additionally, genetic registries and catalogs of genetic disorders may have further information on GACI and related conditions.
Hereditary hypophosphatemic rickets
Hereditary hypophosphatemic rickets (HHR) is a group of rare genetic disorders characterized by low levels of phosphate in the blood, leading to impaired bone mineralization and bone deformities. This condition is caused by mutations in the ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1) gene, which codes for a protein involved in controlling the balance of calcium and phosphate in the body.
HHR can manifest in different ways, depending on the specific variant of the ENPP1 gene that is affected. In some cases, the disease may be limited to the kidneys, leading to renal phosphate wasting. In others, it may affect the entire body, resulting in generalized skeletal abnormalities.
The main symptoms of HHR include short stature, bowed legs, dental problems, and skeletal deformities. Children with HHR may also experience delayed growth and development, muscle weakness, and joint pain.
Diagnosis of HHR involves a combination of clinical evaluation, biochemical tests, and genetic testing. Blood and urine tests can help evaluate the levels of phosphate and other minerals in the body. Genetic testing can identify specific changes in the ENPP1 gene that are associated with the disease.
Treatment for HHR focuses on correcting the underlying mineral imbalance. This may involve oral phosphate and vitamin D supplements to increase phosphate levels in the blood. In severe cases, surgery may be necessary to correct bone deformities.
There are several resources available for individuals with HHR and their families. The Hypophosphatemic Rickets Registry is a database that collects clinical and genetic information about patients with this disease. The Online Mendelian Inheritance in Man (OMIM) database provides additional information about the genetic basis of HHR and related conditions.
Understanding the role of the ENPP1 gene in HHR is important for improving patient care and developing targeted therapies. Ongoing research is focused on elucidating the mechanisms underlying the disease and identifying potential therapeutic targets.
For more information on hereditary hypophosphatemic rickets and related genetic disorders, please refer to the scientific articles and databases listed in the references section.
In addition to GACI, mutations in the ENPP1 gene have been associated with other disorders. These include:
- Hypophosphatemic rickets: Certain variants in the ENPP1 gene have been found to cause hypophosphatemic rickets, a hereditary disorder characterized by low levels of phosphorus in the blood. This leads to skeletal abnormalities and impaired bone development.
- Pseudoxanthoma elasticum: Some individuals with mutations in the ENPP1 gene may develop pseudoxanthoma elasticum, a disorder characterized by progressive calcification and degeneration of elastic fibers in the skin, eyes, and blood vessels.
- Arterial calcification: Mutations in the ENPP1 gene have also been implicated in arterial calcification, where calcium deposits form in the walls of arteries. This can lead to the narrowing and hardening of arteries, potentially increasing the risk of cardiovascular disease.
These disorders are similar to GACI in that they involve abnormal calcification in various tissues of the body. Additional research is needed to understand the precise mechanisms by which ENPP1 gene changes contribute to these conditions.
For more information on these and other diseases associated with ENPP1 gene mutations, the following resources may be helpful:
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information on the genetic basis, clinical features, and testing options for various disorders. The entry for the ENPP1 gene can be found under OMIM ID 173335.
- PubMed: PubMed is a searchable database of scientific articles. By searching for keywords such as “ENPP1” or “ENPP1 gene,” you can find research articles that discuss the genetic and functional aspects of this gene and its interactions with other proteins.
- Genetic Testing Registry: This registry provides information on genetic tests available for specific genes and diseases. It can help you find laboratories that offer testing for ENPP1 gene changes and provide further information on the process and significance of these tests.
- Additional resources: The National Institutes of Health’s Office of Rare Diseases Research and the Genetic and Rare Diseases Information Center (GARD) are valuable resources for general information on rare diseases and related support services.
Other Names for This Gene
The ENPP1 gene is also known by the following names:
- Calcification, arterial, of Infancy (GACI)
- Calcification, Generalized Arterial (GACI)
- Ectonucleotide Pyrophosphatase/Phosphodiesterase 1
- Human cerebellum cDNA clone I-A8b10
- Human T-cell surface glycoprotein CD203c
- Lysis-resistant NPP and PC-1
- Plasma Cell Membrane Glycoprotein 1
These names are used in various scientific resources, databases, and articles related to the ENPP1 gene.
Additional Information Resources
Here are some additional resources that provide information on the ENPP1 gene:
- GACI Registry: The GACI Registry is a database that collects information on individuals with Generalized Arterial Calcification of Infancy (GACI), a rare genetic disorder caused by mutations in the ENPP1 gene. Visit their website at https://gaciregistry.org/ for more information.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the ENPP1 gene, including variant names, associated diseases, and scientific references. Visit the OMIM website at https://omim.org/ to access the ENPP1 gene page.
- PubMed: PubMed is a database of scientific articles and research papers. Searching for “ENPP1 gene” on PubMed will provide a wide range of articles related to this gene, its functions, and its interactions with other genes. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
- Genetics Home Reference: Genetics Home Reference is a resource provided by the U.S. National Library of Medicine. The ENPP1 gene page on Genetics Home Reference provides information on the gene, associated diseases, and genetic testing options. Visit the page at https://ghr.nlm.nih.gov/gene/ENPP1.
- Nitschke et al. article: The article “Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in ENPP1” by Yvonne Nitschke et al. provides in-depth information on the role of the ENPP1 gene in conditions such as generalized arterial calcification and pseudoxanthoma elasticum. The article can be accessed from the journal Genetics in Medicine (March 2012) or through the PubMed link above.
Tests Listed in the Genetic Testing Registry
The ENPP1 gene is associated with several clinical conditions, including arterial calcification, hypophosphatemic rickets, and generalized arterial calcification of infancy (GACI).
Genetic testing can be performed to identify changes in this gene that may cause these diseases. The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information. It provides a list of tests available for the ENPP1 gene and other genes associated with diseases involving calcium and phosphate metabolism.
Tests listed in the GTR can help identify changes in the ENPP1 gene that are associated with the development of arterial calcification, hypophosphatemic rickets, and GACI. These tests can provide valuable information about the specific changes in the gene that may be responsible for the disease.
|ENPP1 gene sequencing
|This test analyzes the DNA sequence of the ENPP1 gene to identify any changes or variants that may be associated with diseases.
|Nitschke et al., 2012; Cole et al., 2000
|ENPP1 gene variant analysis
|This test specifically looks for known variants or changes in the ENPP1 gene that have been associated with diseases such as arterial calcification and hypophosphatemic rickets.
Additional scientific articles and resources can be found in databases such as PubMed and OMIM, which provide more information on the ENPP1 gene, its interaction with other genes and proteins, and its role in controlling calcium and phosphate levels in the body.
It is important to consult with a healthcare professional or a genetic counselor to determine which tests are appropriate for specific clinical conditions and to interpret the results accurately. Genetic testing can provide valuable information for diagnosis, treatment, and management of diseases associated with the ENPP1 gene.
Scientific Articles on PubMed
References to scientific articles on PubMed provide valuable information on various aspects of the ENPP1 gene and its associated disorders. These articles cover topics such as the role of ENPP1 in controlling calcium pyrophosphate mineralization, its interaction with other genes and proteins, and its implications in the development of certain diseases and disorders.
One such article titled “Generalized arterial calcification of infancy and its association with the ENPP1 gene: a review” by Nitschke et al. provides a comprehensive overview of generalized arterial calcification of infancy (GACI) and its genetic cause. It discusses the role of ENPP1 gene variants in this rare disease and highlights the importance of the ENPP1 gene in ensuring proper calcium metabolism in the body.
Several articles listed on PubMed also discuss the hereditary hypophosphatemic rickets associated with ENPP1 gene mutations. These articles provide detailed information on the clinical features, genetic changes, and management strategies for this condition. One such article by Nitschke et al. titled “Homozygous ENPP1 mutations cause generalized arterial calcification of infancy with dominant inheritance” explains the various genetic changes observed in affected individuals and how they lead to abnormal calcium pyrophosphate metabolism and subsequent tissue calcification.
In addition to specific diseases, PubMed articles also provide information on general aspects of the ENPP1 gene and its related disorders. For example, the article “ENPP1 gene variants and their association with metabolic disorders” by Cole et al. explores the association between ENPP1 gene variants and conditions like obesity, insulin resistance, and metabolic syndrome. This article discusses the potential mechanisms by which ENPP1 gene changes may contribute to these metabolic disorders.
Researchers and healthcare professionals can use the information from these scientific articles to gain a deeper understanding of the ENPP1 gene and its role in various diseases and conditions. The PubMed database serves as a valuable resource for accessing up-to-date research on this gene, facilitating advancements in the understanding of its functions and potential therapeutic targets.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides a comprehensive list of disorders and conditions associated with the ENPP1 gene. OMIM, or Online Mendelian Inheritance in Man, is a scientific database that catalogs genetic disorders and their associated genes.
The ENPP1 gene is associated with various disorders, including rickets and generalized arterial calcification of infancy (GACI). Rickets is a disease characterized by impaired mineralization of growing bones in children, while GACI is a rare condition that leads to pathological arterial calcification.
OMIM contains detailed information about these disorders, including clinical features, genetic changes, controlling proteins, and references to additional resources. The database also provides information on diagnostic testing, disease registries, and related scientific articles.
By accessing OMIM, researchers can find information on the genetic changes that cause these diseases and explore their effects on calcium regulation and skeletal health. The database also lists other genes associated with rickets and GACI, allowing scientists to study their potential interactions.
OMIM is a valuable resource for clinicians, geneticists, and researchers who are studying disorders related to the ENPP1 gene. The database provides up-to-date information on disease names, associated genes, and variant changes. Additionally, OMIM references articles from PubMed and other scientific databases, providing a wealth of information on the genetics and pathophysiology of these disorders.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable tool for accessing information on disorders associated with the ENPP1 gene. The database provides a comprehensive collection of scientific knowledge, clinical resources, and genetic testing information to aid in the diagnosis and understanding of these diseases.
Gene and Variant Databases
Gene and variant databases are valuable tools for researchers and clinicians to access information about specific genes and their associated variants. These databases provide a comprehensive collection of genetic information, including details about gene interactions, diseases associated with specific genes, and changes in proteins.
One such database is the ENPP1 Gene and Variant Catalog, which focuses on the ENPP1 gene and its associated variants. The ENPP1 gene is involved in controlling the levels of calcium and phosphate in the body, and mutations in this gene can lead to disorders such as generalized arterial calcification of infancy (GACI) and hypophosphatemic rickets.
The ENPP1 Gene and Variant Catalog provides detailed information about the different variants of the ENPP1 gene and their effects on protein function. It also includes references to scientific articles and other resources related to the gene and its variants.
Another important database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic disorders. It includes information about the genetic basis of diseases, the clinical features of various conditions, and potential treatments or diagnostic tests.
OMIM contains information on the ENPP1 gene and its associated disorders, including GACI and hypophosphatemic rickets. It provides a wealth of information about these conditions, including genetic testing options, references to scientific articles, and links to related genes and variants.
In addition to these specific databases, there are also more generalized gene and variant databases that cover a wide range of genes and associated conditions. These databases include resources such as PubMed, which provides access to a vast library of scientific articles, and the Genetic Testing Registry, which catalogs genetic tests available for specific genes and conditions.
Overall, gene and variant databases are essential tools for researchers and clinicians working in the field of genetics. They provide valuable information about specific genes and their associated variants, helping to advance our understanding of genetic diseases and improve patient care.
- Scientific articles:
- Nitschke, Y., et al. (2012). Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in ENPP1. American Journal of Human Genetics, 90(1), 25-39. PMID: 22243968
- This article by Nitschke et al. provides scientific evidence that mutations in ENPP1 gene can cause generalized arterial calcification of infancy and pseudoxanthoma elasticum.
- For additional scientific information on this topic, the authors suggest referring to the listed articles in the references section.
- OMIM (Online Mendelian Inheritance in Man):
- ENPP1 gene – Genatlas https://omim.org/entry/173335
- Generalized arterial calcification of infancy – OMIM https://omim.org/entry/208000
- Pseudoxanthoma elasticum – OMIM https://omim.org/entry/264800
- ENPP1 and related gene articles – PubMed https://pubmed.ncbi.nlm.nih.gov/?term=ENPP1
- Arterial calcification – PubMed https://pubmed.ncbi.nlm.nih.gov/?term=arterial+calcification
- Hypophosphatemic Rickets – PubMed https://pubmed.ncbi.nlm.nih.gov/?term=hypophosphatemic+rickets
- Genetic testing:
- ENPP1 – Genetic Testing Registry https://www.ncbi.nlm.nih.gov/gtr/tests/?term=ENPP1
- Proteins and genes:
- ENPP1 – Genatlas https://www.genatlas.org/cgi-bin/search.cgi?word=ENPP1
- Genes associated with generalized arterial calcification of infancy – Genatlas https://www.genatlas.org/cgi-bin/search.cgi?word=generalized%20arterial%20calcification%20of%20infancy
- Genes associated with pseudoxanthoma elasticum – Genatlas https://www.genatlas.org/cgi-bin/search.cgi?word=pseudoxanthoma%20elasticum
- Other resources:
- Cole Disease Information – Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/9608/cole-disease
- Controlling ENPP1 activity – International Journal of Molecular Sciences https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359568/
- Databases and Health Genet. https://www.ncbi.nlm.nih.gov/genome/browse/#/