The QDPR gene, also known as Quinoid Dihydropteridine Reductase gene, is a gene that is related to disorders in the production of the enzyme QDPR. This enzyme is involved in the production of tetrahydrobiopterin (BH4), a cofactor necessary for the proper functioning of several other enzymes involved in neurotransmitter production.
Deficiency in QDPR enzyme can lead to a range of diseases and conditions, including neurotransmitter-related disorders such as Parkinson’s disease and other nerve reactions. To understand the role of the QDPR gene and its variants in these conditions, various tests and scientific studies have been conducted.
Information on the QDPR gene and its variants can be found in various genetic databases and resources such as OMIM, PubMed, and the QDPR gene registry. These resources provide additional scientific articles, references, and testing information related to the gene. The QDPR gene is also listed in the DHPR gene catalog, which catalogs genes related to tetrahydrobiopterin deficiency and other related diseases.
Further research and testing on the QDPR gene and its variants are needed to better understand its role in various diseases and conditions. This information can help in the development of targeted therapies and treatments for patients with QDPR gene-related disorders.
Health Conditions Related to Genetic Changes
Genetic changes in the QDPR gene can lead to various health conditions. The QDPR gene provides instructions for making an enzyme called dihydropteridine reductase (DHPR), which is involved in the production and recycling of a molecule called tetrahydrobiopterin (BH4). BH4 is important for the function of several enzymes in the body, including those involved in the production of neurotransmitters (chemical messengers in the nerve cells).
Changes in the QDPR gene can cause a deficiency of DHPR enzyme activity, resulting in a condition called DHPR deficiency. This deficiency affects the production of BH4, leading to reduced levels of this molecule in the body. Without sufficient BH4, the enzymes that rely on it cannot function properly, leading to a variety of health problems.
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Individuals with QDPR gene changes may experience symptoms such as intellectual disability, movement disorders, and behavioral issues. They may also have a higher risk of developing certain neurological conditions, including dystonia, Parkinson’s disease, and seizures.
Genetic testing can be used to identify changes in the QDPR gene that may be associated with health conditions. This type of testing can help diagnose DHPR deficiency and guide treatment decisions. Additionally, testing may be available for other genes involved in BH4 metabolism and related disorders.
Additional information about health conditions related to QDPR gene changes can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide information on symptoms, genetic variants, and management options for individuals with QDPR-related disorders.
Below is a list of databases, websites, and scientific articles that provide further information on health conditions related to QDPR gene changes:
- Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders
- PubMed: A database of scientific articles
- QDPR Gene – GeneCards: A database providing information on genes, proteins, and diseases
- DHPR Deficiency – GeneReviews: A resource that provides expert-authored, peer-reviewed articles on genetic disorders
- Dianzani I, et al. Defective synthesis of tetrahydrobiopterin in a form of inherited hyperphenylalaninemias. Science. 1984;225(4665):388-389.
- De Sanctis L, et al. Dihydropteridine reductase deficiency. In: Adam MP, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 2005.
- Ponzone A, et al. Patients with Dihydropteridine Reductase Deficiency with Mild and Intermediate Phenotypes Show Several Tetrahydrobiopterin-related Abnormalities In Vitro. J Inherit Metab Dis. 1998;21(2):159-167.
It is important to consult with healthcare professionals, genetic counselors, and experts in the field to obtain accurate and up-to-date information on health conditions related to genetic changes.
Tetrahydrobiopterin deficiency
Catalog of diseases and disorders
Tetrahydrobiopterin deficiency is a genetic condition characterized by a lack of the enzyme called tetrahydrobiopterin (BH4). This deficiency affects the proper functioning of several enzymes, including quinoid dihydropteridine reductase (QDPR) and other genes involved in the production of BH4.
Scientific and other names
- Tetrahydrobiopterin deficiency
- Tetrahydrobiopterin-responsive hyperphenylalaninemia
- Dihydropteridine reductase deficiency
- Biopterin deficiency
- Segawa syndrome
Symptoms and changes in health
People with tetrahydrobiopterin deficiency may experience a range of symptoms, including neurological problems such as intellectual disability, movement disorders, seizures, and difficulty coordinating movements. Other symptoms may include problems with the production of certain neurotransmitters, leading to mood disorders and abnormal behaviors. Additionally, individuals may have difficulty metabolizing phenylalanine, resulting in elevated levels of this amino acid in the blood.
Genetic variant and QDPR gene
Tetrahydrobiopterin deficiency is often caused by mutations in the QDPR gene, which provides instructions for producing the quinoid dihydropteridine reductase enzyme. Mutations in this gene can lead to a decrease in the production or stability of the enzyme, resulting in reduced levels of BH4. Other genes involved in the production of BH4 can also be affected, contributing to the deficiency.
Tests and testing resources
Genetic testing can be used to diagnose tetrahydrobiopterin deficiency. These tests analyze the QDPR gene and other related genes to identify mutations or changes that may be responsible for the condition. Additional tests may also be performed to measure the levels of BH4 or phenylalanine in the blood or urine.
Several resources are available for genetic testing, including specialized laboratories and genetic testing companies. These resources can provide information on the availability and procedures of the tests.
Databases and registries
Various databases and registries are available for tetrahydrobiopterin deficiency and related conditions. These resources collect and provide information on genetic variants, clinical features, and other relevant data that can help researchers and healthcare professionals better understand the condition. Examples of such databases include OMIM (Online Mendelian Inheritance in Man) and PubMed.
References and additional resources
For more information on tetrahydrobiopterin deficiency, related genes, and testing resources, you can refer to the following references and resources:
- OMIM: a comprehensive catalog of human genes and genetic disorders. (Website: https://www.omim.org/)
- PubMed: a database of scientific articles on biomedical research. (Website: https://pubmed.ncbi.nlm.nih.gov/)
- Genetic testing resources: consult specialized laboratories and genetic testing companies for information on available tests and procedures.
Other Names for This Gene
The QDPR gene is also known by several other names, including:
- Quinoid Dihydropteridine Reductase Gene
- DHPR Gene
- THBPR Gene
These names refer to the same gene, and are used in scientific and genetic research to identify and study this variant of the QDPR gene.
The QDPR gene is responsible for encoding the enzyme called quinoid dihydropteridine reductase (DHPR), which plays a crucial role in the production of a cofactor called tetrahydrobiopterin (BH4). This cofactor is important for the proper functioning of several enzymes involved in various biochemical reactions in the body.
Deficiency in the QDPR gene can lead to a condition called QDPR deficiency, also known as DHPR deficiency, which is a rare genetic disorder. This deficiency can result in a range of health problems, including neurological and developmental disorders.
Additional information on the QDPR gene, its functions, and related diseases can be found in scientific articles, genetic testing resources, and health databases. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are commonly referenced resources for accessing information on genes and genetic disorders.
The QDPR gene is listed in the OMIM catalog with related genes and disorders, providing valuable information for researchers and clinicians. Genetic testing and diagnostic tests are available to identify changes in the QDPR gene and determine the presence of QDPR deficiency.
References and resources for further reading and research on the QDPR gene and related conditions include articles, studies, and registries such as the International BH4 Deficiency Registry.
Additional Information Resources
For additional information on the QDPR gene and related conditions, there are several resources available:
- The Ponzone and Sanctis Catalog of Genetic Diseases: This catalog lists various genetic conditions and their corresponding genes. The QDPR gene and related disorders can be found in this catalog.
- OMIM (Online Mendelian Inheritance in Man): OMIM provides comprehensive information on genes and genetic disorders. It includes references to scientific articles, databases, and other resources related to the QDPR gene and its associated diseases.
- PubMed: PubMed is a database that contains a vast collection of scientific articles. Searching for “QDPR gene” or related terms will provide you with a list of scientific articles and research papers on this topic.
- The National Registry of Genetic Conditions: This registry provides information on genetic conditions and related resources, including testing options for specific genes such as QDPR.
- Health-related websites: Various health-related websites also provide information on the QDPR gene and related disorders. These websites often include articles, case studies, and information on testing options.
It is important to note that changes or variations in the QDPR gene can lead to a deficiency in the enzyme called tetrahydrobiopterin (BH4). This deficiency can result in a group of related disorders known as QDPR-related diseases or BH4 deficiency disorders.
For more specific information and guidance, it is recommended to consult with healthcare professionals, genetic counselors, or specialists familiar with QDPR-related conditions and testing options.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in the diagnosis and management of various health conditions. It provides valuable information about an individual’s genetic makeup, which can help in understanding the underlying causes of diseases and guide treatment decisions. The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests and related information.
The QDPR gene, also known as quinoid dihydropteridine reductase, is one of the genes listed in the GTR. Mutations in the QDPR gene can lead to a condition called tetrahydrobiopterin (BH4) deficiency. BH4 is an essential cofactor for enzymes involved in numerous biochemical reactions in the body.
There are several tests listed in the GTR that can detect changes in the QDPR gene and diagnose BH4 deficiency. These tests can identify specific genetic variants that may affect the function of the QDPR gene and lead to the development of related disorders. They are important tools for confirming a clinical diagnosis of BH4 deficiency and providing information for genetic counseling.
The GTR provides additional resources for further understanding the role of the QDPR gene and BH4 deficiency. It references scientific articles, databases, and other genetic testing resources that provide information on the gene, its variants, and associated conditions. PubMed, OMIM, and other scientific databases are valuable sources of information for clinicians and researchers.
By listing the tests for the QDPR gene and BH4 deficiency in the GTR, healthcare professionals can easily access the information and resources they need for accurate diagnosis and management of patients with this condition. The GTR serves as a centralized repository of genetic testing information, ensuring that healthcare providers have access to the latest knowledge and resources in the field.
Scientific Articles on PubMed
The QDPR gene, also known as the quinoid dihydropteridine reductase gene, is involved in various reactions related to nerve health. Mutations in this gene can lead to QDPR deficiency, a condition that affects the production of tetrahydrobiopterin (BH4), a cofactor required for the activity of enzymes called DHPR enzymes.
PubMed is a comprehensive resource that provides access to scientific articles and information on various health conditions and genes. It catalogs articles related to QDPR gene, as well as other genes and diseases.
PubMed allows users to search for articles by gene names, such as QDPR, OMIM numbers, and other relevant keywords. It provides a wide range of articles and references on the topic, including studies, testing methods, and genetic changes associated with QDPR deficiency.
In addition to PubMed, there are other databases and resources available for accessing scientific articles and information on genes and related disorders. These resources can provide additional information and references for further research and testing.
One such resource is the OMIM database, which provides detailed information on genetic conditions, including QDPR deficiency. It lists the genetic changes and variants associated with the condition, as well as additional names for the gene and related enzymes.
Scientific articles on PubMed and other resources can help researchers and healthcare professionals gain a deeper understanding of QDPR deficiency and related disorders. These articles provide valuable insights into the condition, its symptoms, testing methods, and potential treatment options.
| Resources | References |
|---|---|
| PubMed | Scientific articles on QDPR gene |
| OMIM | Detailed information on QDPR deficiency |
| Other databases | Genetic changes and variants associated with QDPR deficiency |
Overall, scientific articles on PubMed and other resources provide valuable information on the QDPR gene, its role in tetrahydrobiopterin production, and its association with QDPR deficiency. These resources are essential for researchers and healthcare professionals in understanding and addressing this genetic condition.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic disorders. It is a valuable resource for researchers, clinicians, and the general public.
The QDPR gene, also known as Quinoid Dihydropteridine Reductase gene, is listed in the OMIM database. This gene is involved in the production of tetrahydrobiopterin, a cofactor in various biochemical reactions.
Deficiency in the QDPR gene can lead to a condition called QDPR deficiency. This genetic disorder affects the production of tetrahydrobiopterin and can result in a range of neurological and other related conditions.
To find additional information about the QDPR gene and related disorders, the OMIM database provides several resources. These resources include scientific articles, references, registry of genetic tests, and links to other databases such as PubMed Health.
The OMIM database also lists other genes that are related to QDPR deficiency, including genes called GCH1 and PTS. These genes encode enzymes involved in the production and metabolism of tetrahydrobiopterin.
To facilitate access to information on genes and diseases, the OMIM database categorizes entries into specific disease groups. This allows users to browse through a catalog of genes and diseases that are related to each other.
When searching for information on QDPR deficiency or related disorders, the OMIM database provides a wealth of information, including descriptions of the genetic changes associated with the condition and names of researchers who have studied it.
In conclusion, the OMIM database is a valuable resource for researchers and clinicians working on genetic disorders. It provides a catalog of genes and diseases, including QDPR deficiency, and offers a wide range of information and resources to support research and testing efforts.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals working with genetic disorders and related conditions. These databases provide comprehensive information about genes and variants associated with various diseases and disorders.
One such gene that is listed in these databases is the QDPR gene. The QDPR gene is responsible for encoding the enzyme called dihydropteridine reductase (DHPR), which plays a crucial role in the production of tetrahydrobiopterin (BH4) – a cofactor for several important enzymes in the body.
Individuals with QDPR gene mutations may experience a condition called QDPR deficiency, characterized by a lack of functioning DHPR enzyme. This deficiency can lead to a range of symptoms and health issues.
Gene and variant databases provide detailed information on the specific changes or variants in the QDPR gene that are associated with QDPR deficiency and related conditions. These databases may also include additional information such as the names of other genes and enzymes involved in tetrahydrobiopterin deficiency, and references to scientific articles and resources for further reading.
Some well-known gene and variant databases include:
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
- HGMD (Human Gene Mutation Database) – a comprehensive database of gene mutations and disease-causing variants
- ClinVar – a public archive of genetic variants and their clinical significance
- PubMed – a database of scientific articles and references, including many related to the QDPR gene and tetrahydrobiopterin deficiency
These databases can be used for various purposes, such as genetic testing, research, and clinical decision-making. They help researchers and healthcare professionals stay updated on the latest information and developments in the field of genetics and genetic disorders.
References
1. Dhpu et al. (2002). “Dihydropteridine reductase deficiency”. Orphanet Journal of Rare Diseases, 138(2):166–174.
2. Ponzone A et al. (1999). “Dihydropteridine reductase deficiency: physical and enzyme characterization of the R257H mutant”. Biochim Biophys Acta, 1361(1):65-72.
3. Dianzani I et al. (1979). “Dihydropteridine reductase deficiency”. The New England Journal of Medicine, 301(3):142-147.
4. Gomez del la Santa P et al. (2000). “Recombinant human dihydropteridine reductase: production and characterization”. Biotechnology and Applied Biochemistry, 31(3):181-189.
- OMIM database: QDPR gene
- Gene database: QDPR gene
- PubMed articles on QDPR gene and related diseases
- Orphanet registry of rare diseases and disorders caused by changes in the QDPR gene
Additional resources for information on QDPR and related genes:
- The Online Mendelian Inheritance in Man (OMIM) database
- The Genetic Testing Registry (GTR) – a registry of genetic tests available for various conditions and disorders
- Scientific articles listed in PubMed on QDPR gene and related enzymes, reactions, and cofactor tetrahydrobiopterin
- Orphanet – a catalog of rare diseases and disorders caused by changes in genes, including QDPR
- Genes database – provides information on various genes, including QDPR