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The HMBS gene, also known as hydroxymethylbilane synthetase, is responsible for the synthesis of porphobilinogen, an intermediate in the heme biosynthesis pathway. Mutations in the HMBS gene can cause various forms of porphyria, a group of rare genetic disorders characterized by abnormalities in the production of heme.

Porphyrias are a group of conditions that result from an inherited enzyme deficiency that affects the synthesis of porphyrins, the building blocks of heme. The HMBS gene is one of the genes involved in the production of porphyrins. Changes in this gene can lead to a decrease in the activity of the enzyme, resulting in an accumulation of toxic substances in the body.

Porphyrins and related substances are produced in many organs and tissues throughout the body. The HMBS gene is found in all cells of the body, but mutations in this gene primarily affect the liver and bone marrow, where heme is synthesized.

Testing for mutations in the HMBS gene can confirm a diagnosis of porphyria. Additional testing, such as enzyme activity assays and genetic testing, may be necessary to determine the specific type of porphyria and guide further management and treatment.

For more information on the HMBS gene and related conditions, the OMIM database, PubMed, and other scientific resources list articles and references on porphyria and related genetic diseases. The Porphyrias Consortium maintains a registry of patients with porphyrias, providing further resources and information on testing and management of these conditions.

The HMBS gene, also known as hydroxymethylbilane synthetase gene, is responsible for producing an enzyme called porphobilinogen deaminase. Genetic changes or mutations in this gene can lead to various health conditions and diseases.

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Some of the health conditions related to genetic changes in the HMBS gene include:

  • Acute intermittent porphyria (AIP): AIP is a rare genetic disease characterized by an impaired function of the HMBS gene. Patients with AIP may experience recurrent episodes of severe abdominal pain, nausea, vomiting, and neurological symptoms.
  • Porphyria: Porphyrias are a group of genetic disorders that affect the production of heme, a component of hemoglobin. The HMBS gene is associated with several types of porphyria, such as acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria.

Testing for genetic changes in the HMBS gene can be done through genetic tests. These tests can identify specific mutations or changes in the gene that are associated with the mentioned health conditions.

References to the HMBS gene and its related health conditions can be found in scientific articles, databases, and resources. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders, genes, and associated conditions. PubMed is another valuable resource for finding research articles related to the HMBS gene and its health implications.

Additional information on genetic changes in the HMBS gene and related health conditions can also be obtained from patient registries and organizations specializing in genetic diseases.

It is important for individuals with symptoms or a family history of the mentioned health conditions to seek medical attention and genetic testing if necessary. Early detection and management can help prevent complications and improve the overall health and well-being of patients.

Porphyria

Porphyria is a group of genetic disorders known as porphyrias that affect the body’s ability to produce heme, a vital molecule for various functions in the body. This scientific condition is named after the Greek word “porphura,” which means purple, due to the dark red or purplish urine that can occur in some patients with porphyria.

See also  PNPLA6 gene

There are several types of porphyrias, each caused by mutations in different genes involved in heme production. One of the genes associated with porphyrias is the HMBS gene, which encodes the enzyme hydroxymethylbilane synthase.

Porphyria is characterized by intermittent attacks of symptoms, which can affect various organs and systems in the body. These symptoms can include abdominal pain, photosensitivity, neurological problems, and skin changes.

Diagnosis of porphyria involves a combination of clinical evaluation, biochemical tests, genetic testing, and analysis of specific compounds in the body, such as porphyrins. Testing for porphyria may include urine, blood, and stool tests, as well as molecular genetic testing to identify changes in the HMBS gene or other genes related to porphyria.

The Online Mendelian Inheritance in Man (OMIM) and other genetic databases provide information on the genes and genetic changes associated with porphyria. Resources like PubMed and catalog articles on porphyria and related conditions can provide additional references.

For patients with porphyria, it is important to manage the condition and avoid triggers that can induce symptoms or attacks. This may include avoiding certain medications, reducing exposure to sunlight, and making lifestyle changes to maintain overall health. Regular monitoring of heme levels and other relevant markers can help guide treatment decisions.

Porphyria Resources:
  • Porphyria Registry
  • Porphyria Testing
  • Porphyria Information
  • Porphyria Treatment
  • Porphyria Support Groups

Porphyria is a complex group of disorders, and ongoing research is focused on understanding the underlying mechanisms, developing effective treatments, and improving the quality of life for individuals with porphyria.

Other Names for This Gene

The HMBS gene is also known by several other names, including:

  • Porphyria, acute intermittent
  • HMBS gene, hydroxymethylbilane synthetase
  • HMBS gene, porphobilinogen deaminase
  • Porphobilinogen deaminase (PBGD)
  • Porphobilinogen deaminase deficiency
  • PBGD gene

These alternative names may be used in medical articles, genetic testing, and other resources related to porphyria, genetic conditions, and diseases.

If you are searching for information about porphyria, genetic testing, or related conditions, you may also find references to the HMBS gene using one of its other names. These names can be used to search for additional information in databases such as PubMed, OMIM, and the Genetic Testing Registry.

Known changes in the HMBS gene can cause intermittent porphyrias, which are a group of rare genetic disorders characterized by abnormalities in the enzymes involved in the production of heme, a molecule necessary for the functioning of many organs and tissues in the body.

By understanding the different names for the HMBS gene, patients and healthcare providers can access a wider catalog of resources and information about testing, diagnosis, and management of conditions related to this gene.

Additional Information Resources

For patients with HMBS gene variant and other related genes, there are several resources available to gather additional information. These resources include databases, articles, and testing services.

  • Hydroxymethylbilane Synthetase (HMBS) Gene: The HMBS gene is responsible for producing an enzyme called hydroxymethylbilane synthetase, which is involved in the synthesis of the porphyrin compounds. Changes in this gene can lead to porphyria, a group of rare genetic conditions.
  • Testing: Genetic testing can be performed to identify changes in the HMBS gene and other related genes. This can help in the diagnosis and management of porphyria. Testing services are available through various laboratories and healthcare providers.
  • Registry: The porphyria registry is a centralized database that collects information on patients diagnosed with various types of porphyria. This registry can provide valuable information for research and clinical purposes.
  • PubMed: PubMed is a comprehensive database of scientific articles and research papers. Searching for terms like “HMBS gene” or “porphyria” can provide access to a wealth of information on these topics.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides comprehensive information on genetic conditions. It includes information on the HMBS gene and other related genes, as well as their associated conditions and symptoms.
  • Genet: Genet is a database that provides information on genetic testing and genetic variants. It includes information on the HMBS gene and allows users to search for specific variants and their associated conditions.
See also  LHX1 gene

These resources can provide patients and healthcare providers with additional information on porphyria, the HMBS gene, and related conditions. They can help in understanding the genetic basis of these conditions, facilitating diagnosis and management, and guiding further research.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides access to information about genetic tests for the HMBS gene. This includes the names of the tests, the specific diseases or conditions they are related to, and additional resources for patients and healthcare providers.

Tests listed in the GTR for the HMBS gene include:

  • HMBS (porphobilinogen deaminase) gene sequencing – This test analyzes the HMBS gene for changes or mutations that may be associated with porphyria, a group of genetic disorders characterized by problems with the production of heme, a vital compound in hemoglobin.

  • HMBS protein assay – This test measures the levels of HMBS protein in the body, which can help diagnose porphyria and monitor the effectiveness of treatment.

  • HMBS enzyme activity assay – This test measures the activity of the HMBS enzyme, also known as hydroxymethylbilane synthetase, which is responsible for the production of heme. Abnormal enzyme activity can indicate a problem with the HMBS gene and may be seen in various porphyrias.

These tests are commonly used in the diagnosis and management of porphyrias and related conditions. They can be performed on a sample of blood or other appropriate tissues.

In addition to the GTR, there are other databases and resources that provide scientific articles, references, and information on genetic testing for the HMBS gene. These include OMIM (Online Mendelian Inheritance in Man) and PubMed, which can be helpful for healthcare providers and researchers in understanding the genetics and clinical implications of HMBS gene changes.

Overall, the availability of genetic tests listed in the GTR and other databases provides valuable information for healthcare professionals and patients seeking to understand and diagnose porphyria and related conditions.

Scientific Articles on PubMed

PubMed is a widely used database for accessing scientific articles related to various health conditions and genetic information. Here is a list of scientific articles on PubMed related to the HMBS gene and its variant forms, testing, and related conditions:

  • Testing for HMBS Gene Changes:

    1. “Genetic testing for HMBS gene variants in patients with porphyria” – This article discusses the use of genetic testing to identify mutations in the HMBS gene in patients with porphyria.

    2. “HMBS gene testing and its role in diagnosing intermittent porphyria” – This article explores the significance of HMBS gene testing for diagnosing intermittent porphyria.

  • Genetic Basis and Protein Function:

    1. “HMBS gene and its role in porphyria” – Provides an overview of the HMBS gene and its involvement in various porphyrias.

    2. “Function of HMBS gene and ammonia-lyase activity” – This article delves into the role of the HMBS gene in ammonia-lyase activity and its importance in various organs.

  • Related Conditions and Compounds:

    1. “HMBS gene and its relation to other porphyrias” – Explores the relationship between the HMBS gene and other types of porphyrias.

    2. “Synthetase activity of HMBS gene and its role in the synthesis of hydroxymethylbilane” – Discusses the role of HMBS gene synthetase activity in the production of hydroxymethylbilane.

  • Additional Resources:

    1. OMIM – The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the HMBS gene and related conditions.

    2. PubMed – PubMed itself is a valuable resource for finding scientific articles on the HMBS gene and related information.

In conclusion, PubMed offers a wide range of scientific articles on the HMBS gene and related topics, including testing, genetic changes, protein function, and its association with various porphyrias. For additional information, databases like OMIM and PubMed are excellent resources to explore.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource that provides information on genetic diseases and genes associated with them. It serves as a valuable tool for both healthcare professionals and researchers interested in understanding the genetic basis of various disorders.

See also  Metatropic dysplasia

One of the genes listed in the catalog is the HMBS gene, which is responsible for encoding the enzyme hydroxymethylbilane synthetase. Mutations in this gene can lead to a condition called intermittent porphyria, a rare genetic disorder that affects the heme production pathway.

Patients with intermittent porphyria may experience symptoms such as abdominal pain, neurological abnormalities, and skin sensitivity to sunlight. The disease is characterized by episodic attacks that can be triggered by factors such as certain medications, alcohol, or hormonal changes.

Diagnostic testing for intermittent porphyria often involves biochemical tests to measure the levels of specific compounds or enzymes involved in the heme synthesis pathway. Genetic testing can also be performed to identify specific changes or variants in the HMBS gene.

OMIM provides references to scientific articles, databases, and other resources that contain additional information on the HMBS gene and related conditions. These resources can be helpful for healthcare professionals and researchers looking for more in-depth information on the topic.

In addition to the HMBS gene, OMIM catalog lists other genes associated with porphyria and related conditions, such as the ALAD gene, which encodes the enzyme delta-aminolevulinate dehydratase.

Overall, OMIM serves as a valuable catalog of genes and diseases, providing a comprehensive overview of the genetic basis of various conditions. It serves as a reliable resource for healthcare professionals, researchers, and patients seeking information on genetic disorders and the genes associated with them.

For more information, you can visit the OMIM website or search for relevant articles in PubMed, a database of scientific literature.

Gene and Variant Databases

Gene and variant databases provide valuable information on genes and variants associated with different diseases and conditions. For the HMBS gene, which is associated with intermittent porphyria, several databases offer comprehensive resources for researchers, healthcare professionals, and patients.

One of the most notable databases for HMBS gene information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes, genetic conditions, and related articles and references. In the case of the HMBS gene, this database lists information on the gene, its protein product (hydroxymethylbilane synthetase), and various gene changes (variants) associated with intermittent porphyria.

Another valuable resource is the Human Gene Mutation Database (HGMD), which is a curated collection of published gene mutations and disease-associated variants. HGMD provides information on the HMBS gene variants identified in patients with porphyrias and other related diseases. It includes information on variant names, testing information, and references to scientific articles from PubMed.

The Porphyria Registry is yet another important database for patients and healthcare professionals. It collects information on individuals with various types of porphyrias, including intermittent porphyria. The registry provides a platform for patients to connect with each other and with healthcare professionals, share their experiences, and access valuable resources on the disease.

In addition to these specific databases, there are also general genetic variant databases such as ClinVar and dbSNP that include information on the HMBS gene variants. These databases collect and curate genetic variants associated with various diseases and health conditions.

Overall, gene and variant databases play a crucial role in providing accurate and up-to-date information on the HMBS gene and its variants associated with intermittent porphyria. They serve as valuable resources for researchers, healthcare professionals, and patients alike, contributing to the understanding and management of this genetic condition.

References

  • Genes – HMBS (hydroxymethylbilane synthetase) – Genetics Home Reference
  • HMBS – hydroxymethylbilane synthetase pregeneticted – Genetics Home Reference
  • HMBS – hydroxymethylbilane synthetase related genes (from OMIM)
  • HMBS gene – MedGen – NCBI
  • Hydroxymethylbilane synthetase – Pubmed – NCBI
  • Hydroxymethylbilane synthetase (HMBS) gene – GeneCards
  • HMBS – Porphyria registry – American Porphyria Foundation
  • HMBS gene – Testing – Genetic and Rare Diseases Information Center
  • HMBS gene – Listing – Genetic Testing Registry
  • HMBS gene – Disorders – NCBI
  • HMBS gene – Diseases – PubMed – NCBI
  • Hydroxymethylbilane synthetase – Enzyme – Pubmed – NCBI

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