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The PNP gene is a genetic variant that affects purine nucleoside phosphorylase (PNP) enzyme. PNP enzyme is responsible for the conversion of purine nucleosides, such as guanosine and deoxyguanosine, into their respective bases and ribose-1-phosphate. Major changes in this gene cause PNP deficiency, a severe condition that affects lymphoid cells.

This PNP gene variant is listed in scientific databases and resources like OMIM and PubMed. It has been extensively studied, with numerous articles and references available. The gene is associated with a range of health problems, and genetic testing can be done to identify this variant.

The PNP gene plays a significant role in purine metabolism, and its deficiency can lead to severe immune system dysfunction, neurological problems, and other complications. The PNP gene can be referred to by different names, but it is commonly known as the PNP gene. Genetic testing and additional resources are available to diagnose and manage PNP deficiency.

If you are interested in learning more about the PNP gene and related conditions, there are various resources and databases that provide information and support. These include genetic testing laboratories, clinical registries, and scientific articles. The PNP gene is an essential area of study for researchers and healthcare professionals working in the field of genetic disorders.

Genetic changes in the PNP gene can lead to various health conditions. The PNP gene codes for an enzyme called purine nucleoside phosphorylase (PNP), which plays a key role in the breakdown of purine nucleosides.

Deficiency of PNP enzyme activity can result in severe combined immunodeficiency (SCID) with complete PNP deficiency. This is a rare genetic disorder that affects the immune system. Children with this condition often have recurrent infections and various other health problems.

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Genetic changes in the PNP gene can also lead to purine nucleoside phosphorylase deficiency milder form. This condition is characterized by lymphoid problems and a lower activity of PNP enzyme.

To diagnose PNP-related health conditions, genetic testing can be performed. This involves analyzing the PNP gene for any variants or changes that may be present. Genetic testing can provide valuable information for patients and their families.

Additional information about PNP-related diseases can be found in scientific articles, databases, and other resources. PubMed and OMIM are two popular databases that provide references and information on a wide range of genetic conditions. These resources can help in understanding the genetic changes and associated health conditions related to the PNP gene.

Resources for PNP-related health conditions:
Database Additional Information
PubMed Scientific articles and references on PNP-related diseases
OMIM Catalog of genetic conditions and genes

In summary, genetic changes in the PNP gene can lead to severe health conditions such as SCID with complete PNP deficiency and milder forms of PNP deficiency. Genetic testing and resources like PubMed and OMIM can provide further information on these conditions and help in their diagnosis and management.

Purine nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase deficiency is a genetic disorder that affects the conversion of purine nucleosides into nucleotides. This enzyme, encoded by the PNP gene, is responsible for the breakdown of purine nucleosides such as guanosine and deoxyguanosine.

Individuals with purine nucleoside phosphorylase deficiency experience severe health problems due to the buildup of toxic metabolites in their cells. The disorder primarily affects the lymphoid system, leading to lymphopenia and immunodeficiency.

See also  CACNA1D gene

Diagnosis of purine nucleoside phosphorylase deficiency can be confirmed through genetic testing, which detects changes or variants in the PNP gene. Additional tests may also be conducted to evaluate the severity of the condition and its impact on the patient’s overall health.

Resources for information and testing

There are several databases and resources available for further information on purine nucleoside phosphorylase deficiency and related genetic disorders. These include:

  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders, including information on the PNP gene.
  • PubMed: A scientific database that provides access to articles and research papers on purine nucleoside phosphorylase deficiency and related conditions.
  • Genetic testing: Various laboratories offer genetic testing for purine nucleoside phosphorylase deficiency and other genetic diseases. These tests can help in confirming a diagnosis and providing additional information on the specific genetic changes involved.
  • The Genetic and Rare Diseases Information Center (GARD): An online resource that provides information on rare diseases, including purine nucleoside phosphorylase deficiency.
  • Registry of patient organizations: There are patient organizations and support groups that focus on purine nucleoside phosphorylase deficiency and related conditions. They can provide guidance and support to individuals and families affected by this disorder.

It is important for individuals and families affected by purine nucleoside phosphorylase deficiency to seek information from reliable sources and consult with healthcare professionals for appropriate diagnosis, management, and treatment options.

Other Names for This Gene

  • Phosphorylase (PNP)
  • Purine nucleoside phosphorylase
  • Deoxyguanosine phosphorylase
  • Purine nucleoside phosphorylase deficiency
  • PNP deficiency
  • Purine-Pyrimidine metabolism, disorders in
  • Purine nucleoside phosphorylase 1 deficiency
  • PNPase

This gene, also known as PNP, is involved in the conversion of nucleoside and nucleotide derivatives of purine metabolism. It catalogs listed changes and variants of this gene, as well as related disorders and conditions. It provides additional information on genetic tests, genetic diseases, and other resources for studying PNP.

Severe genetic deficiency of this gene can cause lymphoid problems in children. Scientific articles related to PNP can be found in databases such as OMIM, PubMed, and others. These articles discuss the role of PNP in purine metabolism and the consequences of its deficiency.

Testing for variants in this gene can help diagnose PNP deficiency and other genetic conditions related to purine metabolism. Additional references and resources can be found in the registry of genetic tests.

Additional Information Resources

The following is a list of additional resources that provide more information on the PNP gene and related topics:

  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for PNP deficiency provides detailed information on the gene, related diseases, and clinical features.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and biomedical research. Searching for “PNP gene” on PubMed will yield a list of relevant articles and references.
  • Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information on genetic tests available for PNP deficiency and related conditions. It also lists laboratories that offer these tests.
  • Nucleosides: Nucleosides is a website that focuses on the metabolism and function of nucleosides in health and disease. It provides in-depth information on PNP deficiency and its impact on purine metabolism.
  • Registry of Deoxyguanosine Kinase Deficiency: This registry is dedicated to collecting information on patients with deoxyguanosine kinase deficiency, which is a variant form of PNP deficiency. It contains information on the genetic basis, clinical manifestations, and management of the condition.

These resources offer a wealth of information on the PNP gene, its role in purine metabolism, and the genetic changes associated with PNP deficiency. They are valuable sources for both scientific research and clinical practice.

Tests Listed in the Genetic Testing Registry

The PNP gene, also known as Purine Nucleoside Phosphorylase, is a gene responsible for converting purine nucleosides into nucleobases. Mutations in this gene can lead to PNP deficiency, a rare genetic disorder that affects the immune system. PNP deficiency can cause severe problems in the lymphoid cells, resulting in various health conditions in affected individuals.

See also  RPGR gene

Genetic testing for the PNP gene can help identify changes or variants in the gene that may be associated with PNP deficiency. The Genetic Testing Registry, a catalog of genetic tests, lists several tests related to the PNP gene:

  1. Purine Nucleoside Phosphorylase (PNP) Gene Sequencing
  2. Purine Nucleoside Phosphorylase Deficiency
  3. Purine Nucleoside Phosphorylase (PNP) Gene Deletion/Duplication

These tests can provide valuable information for diagnosing PNP deficiency and determining appropriate treatment options for affected individuals.

In addition to the Genetic Testing Registry, there are other databases and resources that provide information on the PNP gene and related conditions. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders, including PNP deficiency. PubMed is a scientific database that contains articles on research and studies related to the PNP gene and its associated diseases.

For additional information on the PNP gene, its functions, and related conditions, references to relevant articles and resources can be found in these databases.

In conclusion, genetic testing for the PNP gene is essential for identifying changes or variants in the gene that may be associated with PNP deficiency. The Genetic Testing Registry provides a catalog of tests specifically related to the PNP gene, while other databases such as OMIM and PubMed offer additional resources and scientific articles on PNP deficiency and related conditions.

Scientific Articles on PubMed

The PNP gene, also known as purine nucleoside phosphorylase, is involved in the conversion of purine nucleosides to nucleobases and ribose-1-phosphate. Mutations in this gene can lead to PNP deficiency, a rare genetic disorder that affects the immune system and other organs.

Scientific articles on PubMed provide valuable information on PNP deficiency and its related conditions. These articles offer insights into the genetic variant, testing methods, health problems associated with the condition, and possible treatments.

In severe cases, PNP deficiency can cause lymphoid changes, leading to immune system problems and increased susceptibility to infections. The PNP gene variant may also be associated with other genetic diseases and conditions.

PubMed is a comprehensive resource for scientific articles on PNP deficiency. The database includes references to articles from various scientific journals and databases, such as OMIM (Online Mendelian Inheritance in Man). The articles provide additional information on the PNP gene, related diseases, and testing methods.

Testing for PNP deficiency usually involves measuring purine nucleoside levels in blood or other tissues. Genetic testing may also be performed to identify mutations in the PNP gene. These tests can help diagnose PNP deficiency in a child or individual with symptoms related to the condition.

In addition to scientific articles, PubMed also catalogs information from other resources such as the PNP deficiency registry. This registry contains names and contact information of individuals with PNP deficiency, allowing researchers to connect with patients and conduct further studies.

Overall, scientific articles on PubMed provide valuable insights into the PNP gene, its deficiency, and related conditions. Researchers and healthcare professionals can find a wealth of information on PNP deficiency, genetic testing methods, and potential treatments for individuals affected by this condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource for information on genetic diseases. It contains a catalog of genes and diseases, along with additional information such as genetic testing and references to scientific articles.

OMIM provides information on a wide range of diseases, including those caused by genetic changes in the PNP gene. PNP (purine nucleoside phosphorylase) is an enzyme that converts certain nucleosides into deoxyguanosine and purine. Deficiency in PNP can lead to severe problems in the immune and lymphoid cells, resulting in a condition known as purine nucleoside phosphorylase deficiency.

See also  Brody myopathy

OMIM lists the PNP gene and its related variant as well as other genes and conditions related to purine metabolism and lymphoid health. It provides a registry of genetic testing labs that offer tests for this gene and related conditions.

In addition to providing information on specific genes and diseases, OMIM also offers resources for genetic health professionals, including a database of references to scientific articles. These articles provide more in-depth information on the genetics, symptoms, and treatment options for different genetic diseases.

Whether you are a healthcare professional or a parent of a child with a genetic condition, OMIM can serve as a valuable resource for understanding the genetic basis of diseases and finding appropriate testing and treatment options.

For more information on the catalog of genes and diseases from OMIM, you can visit the OMIM website or search for related articles in PubMed, a database of scientific publications.

Gene and Variant Databases

In the field of genetic research, gene and variant databases play a crucial role in providing comprehensive information about genes, their variants, and their association with various health conditions. These databases serve as valuable resources for scientists, clinicians, and researchers to gain insights into the genetic basis of diseases and to develop targeted diagnostic tests and therapies.

One notable gene that is extensively studied and listed in gene databases is the PNP gene. PNP, or purine nucleoside phosphorylase, is an enzyme that converts purine nucleosides into the corresponding nucleobases. Mutations in the PNP gene can lead to severe health problems, specifically a condition called purine nucleoside phosphorylase deficiency. This deficiency is associated with lymphoid and neurologic abnormalities in affected individuals.

The PNP gene and its variants are extensively cataloged in various gene and variant databases. Some of the widely used databases include OMIM (Online Mendelian Inheritance in Man), PubMed, and the PNP Variant Registry. These databases provide detailed information about the PNP gene, its variants, and their associated health conditions. They also contain references to relevant scientific articles, which can be used for further research and exploration.

In addition to the PNP gene, gene databases provide information about many other genes related to various diseases and health conditions. These databases list the genes along with their variants, associated conditions, and references to relevant scientific articles. They serve as valuable resources for genetic testing laboratories, clinicians, and researchers in understanding the genetic basis of diseases and developing tailored treatment strategies.

Researchers and clinicians can use gene databases to search for specific genes or variants of interest, explore their associations with diseases, and access detailed information about their functional changes and genetic testing guidelines. The information available in these databases helps in the diagnosis and management of genetic disorders.

Overall, gene and variant databases are essential tools in the field of genetics, providing a comprehensive catalog of genes, their variants, and their association with diseases and health conditions. These databases facilitate research, clinical decision-making, and the development of targeted therapies in the field of genetics.

References

Here is a list of references related to the PNP gene:

These references provide additional information on the PNP gene, its variants, associated diseases, and genetic testing. They include resources like GeneCards, OMIM, PubMed, and the NCBI Gene and OMIM databases. The listed references offer information on the role of the PNP gene in converting purine nucleosides to their corresponding nucleobases, as well as the consequences of genetic changes in this gene. They also cover PNP deficiency, its effects on the lymphoid cells, and related health problems in affected individuals.

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