The SLC34A1 gene, also known as sodium-phosphate transporter 2A (NAPI-IIA) or sodium-dependent phosphate transport protein 2A (Pit-2), is a scientific term used to describe a protein-coding gene that is responsible for the regulation of mineral homeostasis in humans. Mutations in this gene can cause a variety of inherited disorders and diseases, including hypercalciuria and hypercalcemia, which are characterized by excessively high levels of calcium in the blood.

SLC34A1 is a member of the SLC34 gene family, which also includes other related genes such as SLC34A2 and SLC34A3. The SLC34A1 gene has been extensively studied and its role in calcium and phosphate balance has been well-documented. Additionally, the SLC34A1 gene has been associated with idiopathic infantile hypercalcemia, a condition in which infants experience abnormally high levels of calcium in their blood without any obvious cause.

Testing for genetic changes in the SLC34A1 gene can be used to diagnose individuals with hypercalciuria and hypercalcemia. Various tests, including DNA sequencing, are available to identify mutations in this gene, and these tests can provide valuable information for the diagnosis and management of related conditions.

References for further information on the SLC34A1 gene and related conditions can be found in scientific databases such as PubMed and OMIM. These resources provide additional articles, health registry information, and genetic databases that catalog gene changes and associated conditions. Such information is crucial for understanding the genetic basis of these disorders and developing targeted treatments as needed.

Genetic changes in the SLC34A1 gene are associated with various health conditions. These conditions are listed below:

  • Sodium-phosphate cotransporter 2A-related disorders: Genetic changes in the SLC34A1 gene can cause sodium-phosphate cotransporter 2A (Napi-IIa) deficiency, which is a rare genetic disorder. This condition affects the kidneys’ ability to reabsorb phosphate, leading to low levels of phosphate in the blood. This can result in various symptoms and complications.
  • Hypercalciuria: Some genetic changes in the SLC34A1 gene are associated with hypercalciuria, a condition characterized by excessive calcium excretion in the urine. This can lead to the formation of kidney stones and other kidney-related problems.
  • Infantile idiopathic hypercalcemia: Certain genetic changes in the SLC34A1 gene can cause infantile idiopathic hypercalcemia, a condition characterized by high levels of calcium in the blood during infancy. This condition can result in symptoms such as vomiting, constipation, poor appetite, and failure to thrive.

Additional information and scientific references for these and other related conditions can be found in various databases and resources, including OMIM (Online Mendelian Inheritance in Man), PubMed, and scientific articles. Genetic testing may be needed to identify specific genetic changes in the SLC34A1 gene in individuals with these conditions.

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It is important to note that not all genetic changes in the SLC34A1 gene are necessarily related to health conditions. Some changes may be benign or have unknown effects. Consulting with healthcare professionals and genetic specialists is advised for proper evaluation and interpretation of genetic testing results.

Idiopathic infantile hypercalcemia

Idiopathic infantile hypercalcemia is a condition characterized by high levels of calcium in the blood in infants for unknown reasons. The condition is believed to be caused by changes in the SLC34A1 gene, which is responsible for the production of a protein called sodium-phosphate cotransporter NAPI-IIa. This protein is involved in the reabsorption of phosphate in the kidneys.

Idiopathic infantile hypercalcemia is typically diagnosed in the first year of life, and affected individuals may develop symptoms such as excessive thirst, frequent urination, poor growth, and constipation. In some cases, the high levels of calcium can lead to kidney stones or abnormal deposits of calcium in the kidneys.

To confirm the diagnosis of idiopathic infantile hypercalcemia, genetic testing may be needed to identify changes in the SLC34A1 gene. Additional tests, such as blood tests and urine tests, may also be performed to measure calcium and phosphate levels in the body.

See also  SPRED1 gene

There are currently no specific treatments for idiopathic infantile hypercalcemia. Management of the condition may involve maintaining a low-calcium diet and providing medications to reduce the levels of calcium in the blood. Regular monitoring of calcium and phosphate levels is important to prevent complications and ensure the overall health of affected individuals.

For more information on idiopathic infantile hypercalcemia, you can refer to the following resources:

  • Genetic and Rare Diseases Information Center (GARD): Provides information on the symptoms, causes, and treatment options for idiopathic infantile hypercalcemia.
  • Online Mendelian Inheritance in Man (OMIM): Offers a comprehensive catalog of human genes and genetic disorders, including idiopathic infantile hypercalcemia.
  • PubMed: A database of scientific articles offering information on the genetics, symptoms, and treatment of idiopathic infantile hypercalcemia.
  • PubMed-related articles: Lists scientific articles related to idiopathic infantile hypercalcemia that can provide further insights into the condition.
  • Genetic Testing Registry (GTR): Offers a list of laboratories and genetic tests available for idiopathic infantile hypercalcemia.

Other disorders

Changes in the SLC34A1 gene have been found to be related to other disorders affecting the kidneys. These diseases are typically characterized by impaired sodium-phosphate transport and can lead to hypercalcemia and hypercalciuria.

One related condition is called idiopathic infantile hypercalcemia, which is characterized by elevated levels of calcium in the blood. This condition can develop in infancy and can cause kidney stones and other complications.

Information on these conditions can be found in scientific databases such as PubMed and OMIM. Additional resources and references can be found in these databases, providing more information on the genetics, testing, and treatment of these disorders.

The NAPI-IIA variant of the SLC34A1 gene is listed in the genetic testing catalog, which provides a comprehensive list of genetic tests available for various conditions. This variant is associated with the impaired production of the sodium-phosphate transport protein.

When searching for information on other disorders related to the SLC34A1 gene, it is important to use the alternate names for the gene, such as NPTIIA or NPT2a. These names may be used in scientific literature and databases.

Individuals with these disorders may benefit from participating in genetic registries and joining support groups. These resources can provide additional information, connect individuals with others facing similar conditions, and offer support and guidance.

Further research and studies are being conducted to better understand the role of the SLC34A1 gene in these disorders and to develop effective treatments.

  • OMIM: Sodium-phosphate co-transporter NPT2a deficiency
  • Genetic testing catalog: SLC34A1 gene
  • PubMed: Search for articles on SLC34A1 gene and related disorders
References

Other Names for This Gene

  • SLC34A1 gene
  • Napi-iia gene
  • Sodium-phosphate transport protein 2A
  • Solute carrier family 34 member 1 gene
  • Napi-2a gene
  • NPT2A gene
  • NPT11 gene
  • NPAT gene

The SLC34A1 gene is also known by several other names. It is sometimes referred to as the Napi-iia gene or the sodium-phosphate transport protein 2A. Another name for the gene is solute carrier family 34 member 1 gene. It is also known as the Napi-2a gene, NPT2A gene, NPT11 gene, or NPAT gene.

The SLC34A1 gene is associated with various conditions related to the kidneys. It plays a role in the production of sodium-phosphate cotransporters, which are responsible for the reabsorption of phosphate in the kidneys. Mutations in this gene can lead to genetic disorders such as infantile hypercalcemia and idiopathic hypercalciuria. These conditions are characterized by excessive levels of calcium in the urine.

Additional information on the SLC34A1 gene and related disorders can be found in scientific articles and databases such as OMIM, PubMed, and GeneTests. These resources provide valuable information on the genetic testing, health conditions, and changes in the gene that are associated with these conditions.

References:
1. OMIM: SLC34A1 gene
2. PubMed: Conditions related to SLC34A1 gene
3. GeneTests: Genetic testing of SLC34A1 gene

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides information on the genetic basis of human diseases and traits. The OMIM entry for SLC34A1 gene (OMIM: 182309) contains detailed information on the gene, its function, and related disorders.
  • PubMed: PubMed is a widely used database of scientific articles. Searching for “SLC34A1 gene” on PubMed will provide you with a list of articles related to the gene, its function, and its role in various diseases and conditions.
  • Genetic Testing: Genetic testing for the SLC34A1 gene can be used to identify mutations or changes in the gene that may be associated with specific disorders or conditions, such as infantile hypercalcemia with hypercalciuria (IHH). Testing is typically performed by specialized laboratories and can provide important information for diagnosis and management.
  • Databases and Registries: There are several genetic databases and registries that provide information on the SLC34A1 gene and related disorders. These resources include the Human Gene Mutation Database (HGMD), the Genetic Testing Registry (GTR), and the Online Mendelian Inheritance in Man (OMIM) catalog. These databases list known genetic changes in the gene and provide information on associated diseases and conditions.
  • Health Organizations: Various health organizations, such as the National Institutes of Health (NIH) and the American Society of Human Genetics (ASHG), provide additional information on the SLC34A1 gene and related conditions. These organizations often have educational materials, resources, and support networks available for individuals and families affected by genetic disorders.
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Understanding the role of the SLC34A1 gene in sodium-phosphate transport and its involvement in disorders like infantile hypercalcemia with hypercalciuria is important for scientific and medical research. Additional resources and references can be found in scientific articles and publications listed in databases like PubMed. Continued research and testing are needed to fully understand the genetic changes and conditions associated with this gene.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests that are available for various genetic conditions. It serves as a resource for individuals and healthcare professionals to access information about genetic testing options.

In the context of the SLC34A1 gene, the GTR lists tests for genetic conditions caused by changes in this gene. These conditions are typically related to the kidneys and include idiopathic infantile hypercalcemia, autosomal recessive hypophosphatemic rickets, and autosomal dominant hypophosphatemic rickets. The SLC34A1 gene encodes a sodium-phosphate co-transporter called NAPI-IIa, which is involved in the reabsorption of phosphate in the kidneys.

The GTR provides information on the genetic tests available for these conditions, including the variant databases, scientific articles, and other resources related to these tests. The tests listed in the GTR are typically developed by member laboratories and are based on scientific research and evidence. The GTR also provides references to additional information and resources, such as PubMed articles and OMIM entries, for further exploration.

Genetic testing plays a crucial role in diagnosing and managing genetic conditions. By analyzing a person’s DNA, these tests can identify changes in specific genes, providing insights into the underlying cause of diseases and disorders. In the case of SLC34A1 gene-related conditions, genetic testing can help determine the presence of specific variants or mutations that may be contributing to sodium-phosphate imbalance and hypercalciuria.

The Genetic Testing Registry serves as a valuable tool in the field of genetic testing, providing a centralized catalog of tests for various genetic conditions. It acts as a bridge between scientific research, medical knowledge, and healthcare practice, ensuring that individuals and professionals have access to reliable and up-to-date information for informed decision-making.

Overall, the tests listed in the Genetic Testing Registry offer important insights into SLC34A1 gene-related conditions and provide a foundation for further research and understanding of these disorders.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the SLC34A1 gene and related conditions. PubMed is a database that contains a vast collection of scientific literature from various biomedical fields. Researchers and healthcare professionals can access PubMed to find relevant articles, studies, and reviews on specific genes, disorders, and related health conditions.

One of the main areas where scientific articles on PubMed are needed is the understanding of the SLC34A1 gene and its role in certain disorders and conditions. This gene is responsible for the production of a protein called sodium-phosphate cotransporter NAPI-IIA, which plays a crucial role in the reabsorption of sodium and phosphate in the kidneys.

Research has shown that genetic changes or variants in the SLC34A1 gene can lead to various disorders, including hypercalciuria, idiopathic infantile hypercalcemia, and other related conditions. These conditions typically develop when there is an imbalance in the reabsorption of sodium and phosphate in the kidneys.

Scientists and researchers have conducted numerous studies to investigate the genetic changes and variant forms of the SLC34A1 gene. These studies aim to understand the underlying mechanisms and identify potential treatments or interventions for individuals affected by these disorders.

One useful resource for researchers and healthcare professionals is the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information on genetic disorders and related genes. OMIM includes a detailed catalog of genes and their associated disorders, including the SLC34A1 gene and related conditions.

Scientific articles published on PubMed often reference the OMIM database when discussing the SLC34A1 gene and its related disorders. These articles provide valuable insights and information on the genetic changes, clinical presentations, diagnostic tests, and treatment options for individuals with SLC34A1 gene-related disorders.

See also  CHOPS syndrome

Additionally, researchers frequently collaborate and share their findings through scientific articles to contribute to the collective knowledge in the field. These articles help expand the understanding of the SLC34A1 gene and its role in health and disease.

In summary, scientific articles on PubMed provide essential information about the SLC34A1 gene and its related disorders and conditions. Researchers and healthcare professionals can access PubMed to find relevant articles, studies, and reviews to further their understanding and contribute to the field of genetics and related diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic conditions and the genes associated with them. It serves as a valuable reference for scientific research and healthcare professionals.

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues information about human genes and genetic disorders. It provides a curated collection of data from scientific articles, genetic testing registries, and other resources.

OMIM lists the SLC34A1 gene as one of the genes related to hypercalciuria, a condition characterized by excessive calcium excretion in the urine. Hypercalciuria can lead to the development of kidney stones and other related conditions.

The SLC34A1 gene is also associated with infantile idiopathic hypercalciemia, a condition in which infants experience abnormally high levels of calcium in their blood. This condition is typically caused by changes (variants) in the SLC34A1 gene, which affect the production or function of the sodium-phosphate cotransporter 2A (NAPI-IIA) protein.

The OMIM catalog provides additional information on the SLC34A1 gene, including references to scientific articles and other databases that contain related information. This allows researchers and healthcare professionals to access the most up-to-date information on the gene and its associated conditions.

OMIM is a valuable resource for individuals interested in genetic diseases and conditions. It offers a comprehensive catalog of genes and associated diseases, making it easier to navigate through the vast amount of information available.

The Catalog of Genes and Diseases from OMIM is an essential tool for genetic research, clinical diagnosis, and patient care. It provides a wealth of information on the genetic basis of various diseases and helps healthcare professionals make informed decisions regarding genetic testing and treatment options.

Gene and Variant Databases

When it comes to the infantile form of sodium-phosphate cotransporter type 2a (NAPI-IIa) gene, databases are available to provide information on the genetic changes associated with this condition. These databases allow individuals, researchers, and healthcare professionals to access comprehensive information about the gene and its variants. Listed below are some of the databases and resources that collect and catalog genetic changes in SLC34A1 gene:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides comprehensive information on genes, genetic conditions, and variants. It includes information on the SLC34A1 gene and its related conditions.

  • GeneTests: GeneTests is a database that offers genetic testing resources for healthcare professionals and individuals. It provides information on genetic conditions, genes, and testing laboratories. It includes information on the SLC34A1 gene and related disorders.

  • PubMed: PubMed is a scientific database that allows users to search for articles, references, and scientific literature. It includes a vast collection of articles related to the SLC34A1 gene, sodium-phosphate cotransporter disorders, and other related genetic conditions.

These databases and resources are valuable tools for accessing information related to the genetic changes in the SLC34A1 gene and its association with sodium-phosphate cotransporter disorders and other related conditions. They provide the necessary information needed for genetic testing, research, and understanding the underlying causes of these diseases.

References

  • SLC34A1 gene: This gene is responsible for the production of sodium-phosphate cotransporter type IIa, also called NAPI-IIA, which is essential for the development and normal function of the kidneys. (NCBI Gene)
  • Hypercalcemia, infantile: This condition is caused by mutations in the SLC34A1 gene and is listed in the OMIM catalog under the name “Hypercalciuria, infantile” (OMIM)
  • Idiopathic infantile hypercalcemia: This is a registry of individuals with idiopathic infantile hypercalcemia caused by mutations in the SLC34A1 gene. It provides information on genetic testing and additional resources for affected individuals and their families. (ClinVar)
  • Changes in the SLC34A1 gene: Mutations in this gene have been associated with various disorders related to sodium-phosphate transport and kidney function. (PubMed)
  • Related genes and conditions: In addition to SLC34A1, other genes have also been implicated in sodium-phosphate transport disorders and related conditions. (NCBI Gene)