The UROD gene, also known as Uroporphyrinogen decarboxylase, is a scientific topic that has generated significant interest in the medical community. The UROD gene plays a crucial role in the production of heme, a vital component of hemoglobin and other important enzymes in the body.
This gene has been extensively studied and researched, and numerous scientific tests have been conducted to understand its function and potential implications. The UROD gene is responsible for the production of an enzyme called uroporphyrinogen decarboxylase, which catalyzes the last step in the synthesis of heme.
Research on the UROD gene has been especially relevant in the field of porphyrias, a group of genetic and nongenetic conditions characterized by defects in heme production. Changes or variants in the UROD gene can lead to toxic buildup of uroporphyrinogen, which is associated with various forms of porphyria.
Scientists have identified different names and databases for the UROD gene, including the Online Mendelian Inheritance in Man (OMIM) catalog and the Human Gene Mutation Database (HGMD). These resources provide clinicians and researchers with additional information on the UROD gene, its associated diseases and genetic changes.
Overall, the UROD gene is a significant player in the understanding of genetic and nongenetic porphyrias and has contributed to improving the diagnosis and management of these conditions. Ongoing scientific research continues to shed light on the role of the UROD gene and its potential implications for human health.
Health Conditions Related to Genetic Changes
The UROD gene is associated with several health conditions resulting from genetic changes. Genetic changes in the UROD gene can lead to various diseases such as hepatoerythropoietic porphyria and porphyria cutanea tarda. These genetic changes can affect the activity of the uroporphyrinogen decarboxylase enzyme, which is crucial in the production of heme.
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Hepatoerythropoietic porphyria is a rare genetic disorder characterized by the reduced activity of uroporphyrinogen decarboxylase. This results in the accumulation of uroporphyrinogens in the liver and bone marrow, leading to symptoms such as anemia, photosensitivity, and skin lesions.
Porphyria cutanea tarda is another genetic condition associated with genetic changes in the UROD gene. This condition is characterized by the impaired function of uroporphyrinogen decarboxylase, causing the accumulation of porphyrins in the liver and skin. Symptoms of porphyria cutanea tarda include blistering, scarring, and increased sensitivity to sunlight.
In addition to these conditions, genetic changes in the UROD gene may also be associated with other health conditions not directly related to porphyrias. The exact link between these genetic changes and other diseases is still being studied.
To learn more about the health conditions related to genetic changes in the UROD gene, you can refer to scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide information on the names of specific genetic changes, associated conditions, and available tests for genetic testing.
For additional information and testing resources, you can consult with a healthcare professional or refer to specialized clinics and genetic testing laboratories. These sources can provide detailed information on the specific genetic changes, testing methods, and references for further reading.
It is important to note that not all genetic changes in the UROD gene result in toxic and clinically significant conditions. Some genetic variants may have no known health effects or may have nongenetic causes.
References:
- OMIM: Uroporphyrinogen Decarboxylase Deficiency. Retrieved from https://www.omim.org/entry/613521
- PubMed: Uroporphyrinogen Decarboxylase Deficiency. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Uroporphyrinogen+Decarboxylase+Deficiency
- Genetic Testing Registry: Uroporphyrinogen Decarboxylase Deficiency. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/?term=uroporphyrinogen+decarboxylase
Porphyria
Porphyria is a group of rare genetic disorders that affect the production of heme, a component of hemoglobin, in the body. It is characterized by abnormally high levels of porphyrins, chemicals involved in the production of heme, in the blood, urine, and other tissues. The condition can affect various body systems and can cause a wide range of symptoms.
There are several types of porphyria, each associated with different genetic changes. The hepatoerythropoietic porphyria (HEP), for example, is caused by mutations in the UROD gene and leads to a deficiency of the enzyme uroporphyrinogen decarboxylase. This enzyme is involved in the conversion of uroporphyrinogen to coproporphyrinogen, a key step in the synthesis of heme.
OMIM, the Online Mendelian Inheritance in Man database, provides information on the genetic changes related to porphyria and other genetic diseases. It also lists the genetic tests available for each condition, along with additional information and references.
Clinical testing for porphyria usually involves measuring the levels of porphyrins and other related substances in the blood, urine, stool, or other body fluids. Genetic testing can also be done to identify specific genetic variants associated with the condition.
In addition to OMIM, there are several other scientific databases and resources available for information on porphyria, such as PubMed, the Genetic Testing Registry, and various health articles. These resources can help scientists, healthcare professionals, and individuals affected by porphyria to access the latest research and information.
It is important to note that not all porphyrias are genetic. Some porphyrias can be acquired through exposure to certain drugs, chemicals, or other environmental factors. These nongenetic porphyrias are not listed in the genetic databases mentioned above.
In summary, porphyria is a group of rare genetic disorders that result in the accumulation of porphyrins and related substances. The specific genetic changes and symptoms can vary depending on the type of porphyria. Genetic testing and other diagnostic tests can help identify the underlying cause of the condition and guide treatment decisions.
Other Names for This Gene
UROD gene is also known by other names, including:
- Decarboxylase gene
- Hepatoerythropoietic porphyria
- HCP gene
- Hemolytic anemia, porphobilinogen deaminase deficiency
- Porphobilinogen deaminase deficiency
- Porphobilinogen deaminase gene
- URO-D gene
- UROD: Genetic Testing and Uroporphyrinogen Decarboxylase Deficiency
- Uroporphyrinogen decarboxylase deficiency
- URO-D: Genetic Testing and Uroporphyrinogen Decarboxylase Deficiency
These names are used in scientific and genetic testing contexts to describe the UROD gene and related conditions. Each name may refer to slightly different genetic changes or variants of the gene, leading to various diseases and porphyrias.
For additional information on UROD gene and related conditions, the following resources may be useful:
- The OMIM database: Provides detailed information on the genetics and clinical features of UROD gene variations and associated diseases.
- PubMed articles: Contains scientific articles and research publications related to UROD gene and its role in health and disease.
- The Genetic Testing Registry: Offers information on genetic tests available for UROD gene and related conditions.
- The Porphyria Registry: Collects information on individuals with porphyrias, including those caused by UROD gene mutations.
These resources can help reduce the toxic effects of UROD gene variants and provide information on testing, diagnosis, and management of related conditions.
Additional Information Resources
- Testing for Porphyria: Testing for changes in the UROD gene can help diagnose different types of porphyria.
- Gene Catalog: The Genes and Disease catalog lists information about the UROD gene and other related genes.
- Health Conditions: Uroporphyrinogen decarboxylase deficiency is associated with several health conditions, including porphyrias.
- Tests and References: The PubMed database provides scientific articles and references about the UROD gene and porphyria testing.
- Genetic and Nongenetic Tests: There are different tests available for diagnosing porphyrias, some of which are genetic tests.
- Porphyria Registries: Porphyria registries collect information about individuals with porphyria and can provide resources for testing and support.
- Other Genetic Resources: OMIM is a comprehensive resource that provides information on various genetic diseases, including hepatoerythropoietic porphyria.
- Information on UROD Gene: The ClinVar database provides information on genetic variants in the UROD gene, along with clinical significance.
- Articles and Scientific Resources: Numerous articles and scientific resources can provide further information on the UROD gene and related diseases.
- Toxic Testing and Decarboxylase: Testing for toxic substances and Uroporphyrinogen decarboxylase deficiencies can help diagnose and manage porphyria.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for various diseases and conditions. This registry includes tests for both genetic and nongenetic changes that may lead to toxic conditions.
Genetic testing plays a crucial role in identifying and understanding genetic diseases. The GTR compiles information from various databases, such as PubMed, OMIM, and ClinVar, to provide a comprehensive list of genetic tests for each gene.
These tests are essential for diagnosing and managing genetic conditions, including hepatoerythropoietic porphyria and other related porphyrias. Each test in the registry provides detailed information on the gene, variant, and testing method.
In addition to genetic tests, the GTR also includes information on nongenetic tests. These tests are used to identify changes in genes related to hepatoerythropoietic porphyria and other porphyrias. They may involve testing enzymes or other related biomarkers.
The GTR provides scientific articles and references for additional information on these tests and genes. It is a valuable resource for healthcare professionals, researchers, and individuals who want to learn more about genetic testing for porphyria and other related conditions.
| Test Type | Description |
|---|---|
| Genetic Tests | Tests that examine changes in the genes associated with hepatoerythropoietic porphyria and other porphyrias. |
| Decarboxylase Tests | Tests that measure the activity of decarboxylase enzymes involved in porphyria metabolism. |
| Toxicity Tests | Tests that assess the toxic effects of uroporphyrinogen and other substances related to porphyrias. |
Genetic testing plays a vital role in the diagnosis, management, and understanding of various diseases. The Genetic Testing Registry helps reduce the complexity of finding appropriate tests and resources for genetic conditions. It serves as a centralized hub for accessing the most up-to-date and relevant information on genetic testing and related resources.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the UROD gene and its associated conditions. Here are some names of scientific articles on PubMed:
- Hepatoerythropoietic Porphyria: A Case Report – This article discusses a rare form of porphyria called hepatoerythropoietic porphyria.
- Uroporphyrinogen Decarboxylase Deficiency: Genetic and Nongenetic Factors – This article explores the genetic and nongenetic factors that can lead to uroporphyrinogen decarboxylase deficiency.
- Genetic Testing for Porphyrias: A Comprehensive Catalog – This article provides a catalog of genetic tests available for various types of porphyrias, including those related to the UROD gene.
- Changes in UROD Gene Associated with Porphyria – This article discusses the changes in the UROD gene that are associated with porphyria.
- OMIM Gene: UROD – This article provides information on the UROD gene as listed in the Online Mendelian Inheritance in Man (OMIM) database.
- PubMed Health: UROD Gene – This article on PubMed Health provides information on the UROD gene and its related conditions.
- Tests for UROD Gene Variants – This article discusses the different tests available for detecting variants in the UROD gene.
- Reducing Toxic Uroporphyrinogen Levels in UROD-Related Porphyrias – This article explores strategies to reduce toxic uroporphyrinogen levels in porphyrias related to the UROD gene.
- Additional Resources for UROD Gene – This article provides additional resources for researching the UROD gene and its associated conditions.
These articles can provide valuable scientific and genetic information for researchers, clinicians, and individuals interested in the UROD gene and related disorders.
| PubMed |
| OMIM |
| PubMed Health |
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases, providing valuable information for clinicians, researchers, and other health professionals. It contains detailed descriptions of genes and their variants, clinical features of genetic conditions, and references to scientific articles and databases.
The catalog includes information on the UROD gene, which plays a crucial role in the production of heme, a component of hemoglobin. Mutations in this gene can lead to porphyria, a group of genetic disorders characterized by abnormal production of heme. OMIM provides information on the UROD gene, its variants, associated symptoms, and testing methods.
OMIM categorizes genes and diseases based on their genetic or non-genetic causes. For example, the UROD gene is listed under the “Porphyrias” category. It also provides additional resources and references for further reading and research.
OMIM is a valuable tool for clinicians and researchers working on genetic diseases, as it provides detailed information on genes and their associated conditions. The database allows for easy access to information on genetic conditions, variant analysis, and testing methods. It helps reduce the time and resources required for genetic testing and provides a comprehensive overview of genetic diseases.
Users can search for specific genes or diseases in the OMIM catalog and access detailed information on each entry. The catalog also includes links to other relevant databases, such as PubMed, for additional scientific resources.
| Gene | Disease | OMIM Entry |
|---|---|---|
| UROD | Porphyria, hepatoerythropoietic | OMIM: 606938 |
| UROD | Porphyria, cutanea tarda | OMIM: 176100 |
| UROD | Porphyria | OMIM: 176100, 610984 |
| UROD | Decarboxylase deficiency | OMIM: 279060 |
- OMIM provides detailed information on genetic conditions and associated genes.
- The catalog includes references to scientific articles and databases for further research.
- Testing methods for genetic conditions are listed, allowing for easier diagnosis.
- Users can access additional resources and references for each entry in the catalog.
Overall, the OMIM catalog is a valuable resource for clinicians, researchers, and other health professionals seeking information on genes and genetic diseases. It provides a comprehensive overview of genetic conditions, variant analysis, and testing methods, reducing the time and resources required for diagnosis and research.
Gene and Variant Databases
Genetic information on the UROD gene and related variants can be obtained from various databases. These databases provide a comprehensive catalog of genetic information, helping to reduce the need for extensive testing and providing valuable resources for researchers, health professionals, and other interested parties.
One of the main databases for genetic information is the UROD gene registry. This registry compiles scientific references, genetic testing information, and other relevant data on the UROD gene and related variants. It serves as a centralized repository for information on this gene and provides a valuable resource for scientists and healthcare professionals.
In addition to the UROD gene registry, there are other databases that provide information on genetic variants and their associated health conditions. The Online Mendelian Inheritance in Man (OMIM) catalog, for example, lists genetic variants and their corresponding diseases. It provides a comprehensive database of genetic information sourced from scientific articles, leading to a better understanding of the genetic basis of various diseases.
For genetic testing purposes, there are databases that specifically focus on providing information on different genetic conditions. These databases list the genetic tests available for each condition, along with additional resources such as guidelines and references. They help in streamlining the testing process and provide valuable information for clinicians and individuals seeking genetic testing services.
Additionally, there are databases that focus on specific genes and their associated conditions. For example, the Uroporphyrinogen Decarboxylase Database provides information on the UROD gene and the hepatoerythropoietic porphyria and other porphyrias associated with it. This database includes genetic testing resources, scientific references, and information on nongenetic factors that may contribute to the development of these conditions.
In summary, gene and variant databases play a crucial role in providing access to genetic information, reducing the need for extensive testing, and assisting in research and healthcare decision-making. These databases consolidate genetic data, aiding in the understanding and management of various genetic conditions.
References
The following references provide additional information on the UROD gene:
- OMIM: The UROD gene is also known as Uroporphyrinogen decarboxylase. OMIM is a comprehensive resource that provides information on genetic diseases and genetic variants. It is a valuable tool for researchers and healthcare professionals. The UROD gene’s OMIM entry provides information on the gene, its associated conditions, and related articles. OMIM can be accessed at https://www.omim.org/entry/613521.
- PubMed: PubMed is a database of scientific articles covering a wide range of topics. Searching for “UROD gene” on PubMed will provide scientific articles related to the gene and its functions. PubMed can be accessed at https://pubmed.ncbi.nlm.nih.gov/.
- Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests and laboratories offering these tests. Searching for “UROD gene” in the registry will provide details on available genetic tests for this gene. The Genetic Testing Registry can be accessed at https://www.ncbi.nlm.nih.gov/gtr/.
- GeneReviews: GeneReviews is a resource that provides expert-authored, peer-reviewed information on genetic conditions. The UROD gene’s GeneReviews entry provides information on hepatoerythropoietic porphyria, a condition caused by changes in the UROD gene. GeneReviews can be accessed at https://www.ncbi.nlm.nih.gov/books/NBK121642/.
- Additional Resources: Other health resources like ClinVar, Online Mendelian Inheritance in Man (OMIM), and related databases can also provide information on the UROD gene. These resources can help in further understanding the gene’s role in diseases and conditions.