The PIGA gene, also known as Phosphatidylinositol Glycan Anchor Biosynthesis Class A, plays a crucial role in the production of a specific protein in the body. This gene is related to various diseases and conditions, including paroxysmal nocturnal hemoglobinuria (PNH) and Simpson-Golabi-Behmel syndrome.

PNH is a rare genetic disorder that affects the production of certain proteins in the blood cells. This condition is caused by a mutation in the PIGA gene, which leads to the breakdown of red blood cells. Individuals with PNH may experience a variety of symptoms, including fatigue, weakness, shortness of breath, and dark urine.

In addition to PNH, the PIGA gene has also been associated with other conditions and diseases, such as aplastic anemia and certain types of cancers. The PIGA gene is listed in various genetic databases and resources, providing valuable scientific information for researchers and healthcare professionals.

Testing for PIGA gene mutations can be done through different methods, including genetic testing and analysis of protein expression. These tests help in the diagnosis and management of PNH and other related conditions. Additionally, scientific articles and references on the PIGA gene can be found in resources like OMIM, PubMed, and the PIGA Gene Registry.

Genetic changes in the PIGA gene have been found to be associated with various health conditions. The PIGA gene encodes an enzyme that is involved in the synthesis of glycosylphosphatidylinositol (GPI) anchors, which attach certain proteins to the cell surface. Mutations or variants in this gene can disrupt the function of GPI anchors, leading to a range of genetic disorders.

One of the main conditions related to PIGA gene mutations is paroxysmal nocturnal hemoglobinuria (PNH), a rare and acquired disorder of the hematopoietic stem cells. In PNH, the GPI anchor is reduced or absent on certain blood cells, causing them to be more susceptible to immune attack and resulting in the destruction of red blood cells. This condition can lead to symptoms such as dark urine, fatigue, and an increased risk of blood clots.

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Additional conditions related to PIGA gene mutations include Simpson-Golabi-Behmel syndrome, a genetic disorder characterized by overgrowth and malformation of certain body parts; and aplastic anemia, a condition in which the body fails to produce enough new blood cells. These conditions are also caused by genetic changes that affect the normal function of the PIGA gene.

In order to diagnose these conditions, genetic testing can be performed to identify mutations or variants in the PIGA gene. Various databases and resources, such as OMIM and PubMed, provide scientific articles and references on the PIGA gene and related conditions. Genetic testing can also be used to screen for certain genetic changes in the PIGA gene, which may be present in individuals with a family history of PNH or other related disorders.

It is important to note that not all genetic changes in the PIGA gene will result in health conditions. Some variants may not have any noticeable effects on the body, while others may have more severe consequences. The specific genetic changes and their effects can vary among individuals.

Overall, the PIGA gene and its related genetic changes play a crucial role in the development of various health conditions, including paroxysmal nocturnal hemoglobinuria and Simpson-Golabi-Behmel syndrome. Understanding the function and impact of these genetic changes can provide valuable information for diagnosis, treatment, and management of these conditions.

References:

  1. OMIM database: https://www.omim.org
  2. PubMed database: https://www.ncbi.nlm.nih.gov/pubmed

Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell disorder characterized by abnormal changes in certain proteins on the surface of red blood cells. It is caused by a broken PIGA gene, which is a genetic variant. PNH is related to other hematopoietic conditions and is listed in the Online Mendelian Inheritance in Man (OMIM) catalog. People with PNH have a reduced ability to produce normal red blood cells, leading to various health conditions.

PNH is often diagnosed through specific laboratory tests that examine the presence of the PIG-A gene and its associated proteins on the surface of blood cells. Testing for PNH can also be done through flow cytometry and other tests. The International PNH Interest Group (I-PIG) maintains a registry of individuals with PNH and provides additional information and resources for people with PNH.

See also  GHR gene

Individuals with PNH may also develop aplastic anemia and other related conditions. PNH is a chronic condition that can cause episodes of paroxysmal events, such as dark urine, anemia, and other symptoms. Treatment for PNH may involve blood transfusions, immunosuppressive therapy, and stem cell transplantation.

For more information on PNH and related genetic disorders, scientific articles, databases, and references, the National Library of Medicine’s PubMed and OMIM can be excellent resources.

Other disorders

In addition to paroxysmal nocturnal hemoglobinuria, mutations in the PIGA gene can cause or contribute to the development of other disorders. These disorders are listed in various scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

One related disorder is aplastic anemia, a condition in which the body’s hematopoietic cells are reduced, leading to a decrease in the production of normal blood cells. This condition can be caused by changes in the PIGA gene, affecting its function and the production of certain proteins.

Another related genetic disorder is Simpson-Golabi-Behmel syndrome, which is characterized by certain physical and developmental abnormalities. Mutations in the PIGA gene have been identified in individuals with this syndrome, further highlighting the role of the gene in normal body function.

Testing for changes in the PIGA gene can be performed through genetic testing laboratories or through research studies. Individuals with a family history of these disorders or those exhibiting symptoms may be candidates for testing.

Additional information and resources on PIGA-related disorders can be found in scientific articles, databases, and genetic testing catalogs. These resources can provide more detailed information on the genetic variations, symptoms, and management options for these conditions.

Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic disorder that affects the normal growth and development of individuals. It is caused by mutations in the PIGA gene, which is responsible for producing certain proteins involved in the proper function of cells.

Individuals with SGBS may experience a wide range of symptoms and developmental abnormalities. These can include facial and skeletal anomalies, organ overgrowth, heart defects, and intellectual disabilities. The severity of symptoms can vary from mild to severe.

SGBS is an X-linked condition, which means that it primarily affects males. However, females can also be carriers of the gene mutation and may exhibit mild symptoms. The condition is present from birth and can cause significant health problems throughout life.

Diagnosis of SGBS is typically done through genetic testing for the PIGA gene mutation. Additional testing may include hematopoietic testing to evaluate any blood-related changes, as well as paroxysmal nocturnal hemoglobinuria (PNH) testing to check for the presence of certain proteins in the blood.

There is currently no cure for SGBS, and treatment focuses on managing the individual symptoms and complications that may arise. This may involve surgeries, physical therapy, and supportive care tailored to the specific needs of each individual.

Research on SGBS and the PIGA gene is ongoing, and scientific articles and other resources can provide additional information on the condition and related genetic diseases. Databases such as PubMed or OMIM can be valuable sources for finding references and names of other genetic conditions and genes.

A registry or catalog for individuals with SGBS and related conditions can also provide valuable information and resources for affected people and their families. These resources may include information on available support services, current research, and opportunities to participate in clinical trials or studies.

In conclusion, Simpson-Golabi-Behmel syndrome is a rare genetic condition caused by mutations in the PIGA gene. It can result in a wide range of developmental abnormalities and health problems. Genetic testing and other diagnostic tests can help in identifying these conditions. Ongoing research and resources provide additional information and support for people affected by SGBS and related disorders.

Other Names for This Gene

  • Hemoglobinuria, Paroxysmal – PIGA
  • Hemoglobinuria, Paroxysmal, PIGA-Related
  • PIGG
  • Paroxysmal Hemoglobinuria, PIGA-Related
  • PIG-A
  • Paroxysmal Nocturnal Hemoglobinuria

The PIGA gene, also known by the names listed above, is associated with various conditions and disorders affecting the hematopoietic system. It plays a crucial role in the production of certain proteins that are necessary for normal cell function. Mutations in the PIGA gene can cause changes in these proteins, leading to the development of paroxysmal nocturnal hemoglobinuria (PNH) and related diseases.

PNH is a rare genetic condition characterized by the breakdown of red blood cells and the presence of abnormal proteins on the cell surface. This condition can cause episodes of hemoglobinuria, where the urine becomes dark or reddish-brown due to the presence of hemoglobin from broken down red blood cells.

The PIGA gene provides instructions for creating a protein that is essential for the normal function of hematopoietic cells, which are responsible for the production of blood cells in the body. Mutations in this gene can reduce or abolish the activity of the protein, leading to the development of PNH and related disorders.

See also  DOCK6 gene

Testing for PIGA gene mutations can be done through genetic testing, and additional diagnostic tests can be performed to confirm the presence of PNH. Resources such as PubMed and OMIM provide scientific articles and information on the PIGA gene and related conditions. The Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) are other databases that offer resources and information on the PIGA gene and related disorders.

Individuals with PNH and related conditions may experience a range of symptoms, which can vary in severity. Treatment options for PNH include medications aimed at reducing the abnormal breakdown of red blood cells and managing symptoms. Hematopoietic stem cell transplantation may also be considered as a potential cure for certain individuals with severe PNH.

To learn more about the PIGA gene and related conditions, you can refer to the scientific articles, resources, and databases listed above. These provide valuable information on the genetic basis of PNH, its associated genes, diagnostic testing, treatment options, and related disorders such as Simpson-Golabi-Behmel syndrome.

Additional Information Resources

The PIGA gene is associated with a condition known as Simpson-Golabi-Behmel syndrome type 2 (SGBS2). The PIGA gene provides instructions for making a protein that is part of the glycosylphosphatidylinositol (GPI) anchor biosynthesis pathway. GPI anchors attach proteins to the cell membrane, and they are involved in many important cellular functions.

The PIGA gene is just one of many genes that can cause conditions in which the function of GPI anchors is reduced or broken. Other genes involved in GPI anchor biosynthesis can also cause similar conditions. Some of these conditions are listed in the OMIM database, the registry of genetic disorders. Information on normal function and genetic changes in these genes can be found in scientific articles and other resources.

Tests for PIGA gene changes and conditions associated with it, such as Simpson-Golabi-Behmel syndrome type 2, can be ordered by healthcare providers or genetic counselors. These tests can help confirm a diagnosis in individuals with clinical features suggestive of these conditions.

For individuals with paroxysmal nocturnal hemoglobinuria (PNH), a rare blood disorder caused by changes in the PIGA gene, additional testing can be done to determine the extent of GPI anchor deficiency. Various resources are available to learn more about PNH and its testing, including the PNH Registry and the Aplastic Anemia and Myelodysplastic Syndrome International Foundation.

Related articles and resources can be found in online databases such as PubMed, which is a comprehensive resource for peer-reviewed biomedical literature. Searching for the terms “PIGA gene” or “Simpson-Golabi-Behmel syndrome” can provide a wealth of information on these conditions and their genetic basis.

This is just a brief overview of the additional information and resources available for the PIGA gene and conditions associated with it. For more in-depth information, it is recommended to consult scientific articles, genetic databases, and other trusted sources.

Tests Listed in the Genetic Testing Registry

The PIGA gene is involved in various hematopoietic and other related conditions. Mutations in this gene can cause the PIGA-related disorders, such as paroxysmal nocturnal hemoglobinuria (PNH) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2).

Genetic testing for the PIGA gene is available to determine if mutations in this gene are present. The testing is done to identify the cause for certain conditions or symptoms individuals may develop.

The Genetic Testing Registry provides a list of tests for the PIGA gene. These tests are designed to detect changes in the PIGA gene and the proteins it produces. The registry also provides additional information, such as the names of the tests, their associated conditions or diseases, and references to scientific articles.

Tests listed in the registry include, but are not limited to:

  • PIGA gene sequencing
  • Deletion/duplication analysis of the PIGA gene
  • Variant analysis of the PIGA gene

By reducing the number of genes that need to be tested, the registry helps streamline the testing process and provides valuable resources for individuals and healthcare professionals.

For more information on the tests listed in the Genetic Testing Registry for the PIGA gene, please visit the Genetic Testing Registry website.

Scientific Articles on PubMed

The PIGA gene is a genetic variant that plays a crucial role in hematopoietic function and is associated with various genetic disorders. It has been the subject of extensive research, with numerous scientific articles available on PubMed.

These articles provide valuable information on the PIGA gene and its related conditions, including paroxysmal nocturnal hemoglobinuria (PNH) and Simpson-Golabi-Behmel syndrome. They discuss the genetic changes and mutations in the PIGA gene that can cause these diseases.

PubMed, a database of scientific articles, catalogs resources related to PIGA gene conditions. It lists articles that explore the function of the PIGA gene and its role in normal hematopoiesis. These articles provide important references for further research and testing.

One such condition associated with PIGA gene mutations is paroxysmal nocturnal hemoglobinuria (PNH). PNH is a rare disorder in which red blood cells are broken down. This condition is caused by abnormalities in the PIGA gene, which result in a deficiency of certain proteins on the cell surface.

See also  22q112 duplication

The PIGA gene is also associated with Simpson-Golabi-Behmel syndrome, a rare genetic disorder characterized by overgrowth, distinctive facial features, and other abnormalities. Mutations in the PIGA gene can cause changes in the function of other genes, leading to the development of this syndrome.

Scientific articles on PubMed provide additional information on the PIGA gene and related conditions. They discuss the impact of PIGA gene mutations on hematopoietic function and provide insights into potential treatments and therapies for these disorders.

Overall, the scientific articles available on PubMed offer a comprehensive and detailed understanding of the PIGA gene and its role in various genetic conditions. They serve as a valuable resource for researchers, healthcare professionals, and individuals seeking information on these rare disorders.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information about genes, their functions, and the conditions they cause. This catalog is a valuable resource for scientists, health professionals, and individuals interested in genetic conditions.

The PIGA gene is one of the many genes listed in the OMIM database. Mutations in this gene can cause paroxysmal nocturnal hemoglobinuria (PNH), a rare genetic disorder. PNH is characterized by the sudden breakdown of red blood cells, leading to a variety of symptoms including anemia, fatigue, and blood clots.

The OMIM catalog provides a registry of genes and diseases, listing the names of genes and the conditions they are associated with. For example, the PIGA gene is associated with PNH. The catalog also includes articles and scientific references related to these conditions, providing additional information for those interested in further research.

Other genetic disorders related to the PIGA gene are also listed in the OMIM catalog. One such disorder is Simpson-Golabi-Behmel syndrome, a condition characterized by overgrowth, intellectual disabilities, and certain physical features. This syndrome is caused by changes or mutations in the PIGA gene.

In addition to providing information on specific genes and conditions, the OMIM catalog also lists diagnostic tests and testing resources for these conditions. This can be helpful for individuals seeking information about genetic testing and available resources for their health.

Overall, the OMIM catalog is a valuable resource for the scientific community and individuals interested in genetics. It provides a comprehensive list of genes, their functions, and the diseases they cause, along with additional references and resources for further exploration.

Gene and Variant Databases

The PIGA gene has been extensively studied and its variants are listed in various gene and variant databases. These databases provide valuable information for scientific research and clinical applications.

One of the databases that includes information on the PIGA gene is PubMed. PubMed is a resource that provides access to a vast collection of scientific articles and references. It includes information on the PIGA gene and its role in hematopoietic conditions, such as paroxysmal nocturnal hemoglobinuria.

OMIM is another database that catalogues genetic conditions and the genes associated with them, including the PIGA gene. It provides information on the genetic changes that can cause diseases like paroxysmal nocturnal hemoglobinuria and aplastic anemia.

The PIGA gene is also listed in gene and variant databases that focus on specific conditions, such as the Simpson-Golabi-Behmel syndrome registry. These databases provide additional information on the gene and its role in specific conditions.

Genetic testing resources are available for individuals with genetic conditions related to the PIGA gene. These resources offer tests to identify variants in the PIGA gene and provide information on the associated health conditions.

Overall, gene and variant databases are valuable resources for researchers and healthcare professionals. They provide comprehensive and up-to-date information on genes, variants, and associated health conditions, allowing for better understanding and management of genetic disorders.

References

These resources provide information on the genetic changes associated with the PIGA gene, testing options for individuals with PIGA gene disorders, and other scientific articles related to the PIGA gene. They also list other genes and conditions that may cause similar symptoms or are related to PIGA gene. The PIGA gene is known to be associated with the development and function of certain proteins in the body, and changes in this gene can lead to conditions such as paroxysmal nocturnal hemoglobinuria (PNH) and Simpson-Golabi-Behmel syndrome (SGBS). Testing the PIGA gene can help in the diagnosis of these conditions and provide additional information on the genetic changes present in affected individuals.