The AMPD1 gene provides instructions for making an enzyme called adenosine monophosphate (AMP) deaminase. This enzyme is involved in the breakdown of purine nucleotides, which are the building blocks of DNA and its chemical cousin RNA. Specifically, AMP deaminase converts AMP to inosine monophosphate (IMP), a necessary step in the pathway that breaks down purine nucleotides.

Deficiency of AMP deaminase is a genetic condition that can cause muscle weakness and other health problems. People with this deficiency have a variant in the AMPD1 gene that reduces or eliminates the activity of the AMP deaminase enzyme. This deficiency is rare, and only a few cases have been reported in the scientific literature.

In some cases, the deficiency of AMP deaminase is related to other diseases or conditions. For example, a deficiency of this enzyme has been reported in individuals with McArdle disease, which is a genetic disorder characterized by muscle weakness and pain during exercise. Additional testing for this deficiency may be recommended in individuals with symptoms suggestive of McArdle disease or related conditions.

More information about the AMPD1 gene can be found in the OMIM database, which provides a comprehensive catalog of human genes and genetic disorders. The database also includes references to scientific articles and other resources that contain additional information about the AMPD1 gene and related tests. Pubmed, Genet, and other databases can also be referenced for more detailed information.

In summary, the AMPD1 gene provides instructions for making the enzyme AMP deaminase, which is involved in the breakdown of purine nucleotides. Deficiency of this enzyme can cause muscle weakness and may be related to other diseases and conditions. Additional information and resources can be found in the OMIM database and other scientific references.

Health Conditions Related to Genetic Changes

Genetic changes in the AMPD1 gene can lead to various health conditions. Here is a list of some of the related conditions:

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• AMP deaminase deficiency: This condition is caused by changes in the AMPD1 gene that result in a deficiency of the AMP deaminase enzyme. People with this deficiency may experience muscle weakness and fatigue.
• Purine monophosphate deaminase deficiency: Another name for this condition is AMP deaminase deficiency. It is caused by genetic changes in the AMPD1 gene, leading to a deficiency of the purine monophosphate deaminase enzyme. Symptoms can include muscle weakness and exercise-induced muscle pain.

For additional information on these health conditions and the genetic changes in the AMPD1 gene, you can refer to the following resources:

• Scientific articles listed in PubMed and other databases
• The Online Mendelian Inheritance in Man (OMIM) catalog
• Genetic testing resources
• The AMP deaminase deficiency registry

References:

1. Morisaki, H., & Morisaki, T. (2019). AMP deaminase deficiency: clinical, biochemical and molecular aspects. Journal of Nucleic Acids, 2019.
2. Genetics Home Reference. AMPD1 gene. Retrieved from https://ghr.nlm.nih.gov/gene/AMPD1

Adenosine monophosphate deaminase deficiency

Adenosine monophosphate deaminase deficiency (AMPD1 deficiency) is a genetic disorder caused by mutations in the AMPD1 gene. This gene encodes the enzyme adenosine monophosphate deaminase, which is responsible for the breakdown of the purine nucleotide adenosine monophosphate (AMP) to inosine monophosphate (IMP) in the muscles.

People with AMPD1 deficiency have a reduced activity of this enzyme, leading to the accumulation of AMP in the muscles. This can result in muscle weakness and fatigue during exercise. The severity of symptoms varies among individuals, and some people may not have any symptoms.

AMPD1 deficiency is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) to have the condition. Carriers of a single mutated gene are generally healthy and do not have any symptoms.

Diagnosis of AMPD1 deficiency is based on clinical symptoms, genetic testing, and measurement of enzyme activity in the muscles. Additional testing may be done to rule out other conditions with similar symptoms.

Treatment for AMPD1 deficiency is focused on managing symptoms and maintaining muscle health. This may include avoiding strenuous exercise, following a balanced diet, and taking supplements to support muscle function.

Research on AMPD1 deficiency is ongoing, and there have been reports of additional genes and genetic changes associated with similar muscle diseases. Scientific articles and resources related to AMPD1 deficiency can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry.

Individuals and families affected by AMPD1 deficiency can also find support and information through patient organizations and disease registries.

Other Names for This Gene

The AMPD1 gene is also known by several other names:

• Catalog names: variant of uncertain significance AMPD1
• References:
• In PubMed, the gene is referred to as morisaki AMPD1
• Related gene names:
• Deaminase, related to AMPD1
• AMP deaminase monophosphate (AMPD1)
• Articles:
• Changes in AMPD1 gene during exercise testing
• AMPD1 gene variants and muscle diseases
• Information listed in databases and resources:
• AMPD1 deficiency and weakness
• Health databases and genetic testing resources
• Deficiency of purine nucleoside phosphorylase (AMPD1)
• Additional names:
• The AMPD1 gene is also referred to as the adenosine monophosphate deaminase gene
• OMIM:
• Some cases of AMPD1 deficiency have been listed in the Online Mendelian Inheritance in Man (OMIM) database

These various names are used to describe the same gene in scientific literature, databases, and other resources. The AMPD1 gene is associated with certain conditions and diseases, including muscle weakness and AMPD1 deficiency. Additional information about this gene can be found in the referenced articles and databases.

Additional Information Resources

In addition to the scientific articles listed in the catalog, there are several other resources available for additional information on the AMPD1 gene and related conditions. These resources include:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic conditions, including the AMPD1 gene. It includes information on the gene, its variant forms, and associated diseases.
• Genetests: Genetests is a comprehensive website that provides information about genetic tests and the genes that are associated with genetic conditions. It includes information on testing for AMPD1 gene changes and related conditions.
• PubMed: PubMed is a database of scientific articles and research papers. It provides access to a wide range of scientific publications on the AMPD1 gene, its function, and its role in disease.
• Muscular Dystrophy Association (MDA): The MDA website provides information on muscular dystrophy and related muscle diseases. It includes information on AMPD1 deficiency and related conditions.
• NIH Genetic and Rare Diseases Information Center (GARD): GARD provides resources for patients and healthcare providers on genetic and rare diseases. It includes information on AMPD1 deficiency and related conditions.
• Registry of Genes and Genetic Variants (GenesRus): GenesRus is a database that provides information on genes and their variants. It includes information on the AMPD1 gene and its variants.

These resources can provide additional information on the AMPD1 gene, its function, associated diseases, and testing options. They can be helpful for both healthcare providers and individuals who are interested in learning more about this gene and its role in health and disease.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a catalog of genetic tests and their associated information. In the context of the AMPD1 gene, the GTR lists several tests related to adenosine monophosphate deaminase (AMPD) deficiency.

AMPD deficiency is a rare genetic condition characterized by a deficiency of the enzyme AMPD, which is responsible for breaking down a compound called adenosine monophosphate (AMP) into inosine monophosphate (IMP). This deficiency can lead to a buildup of purine compounds in the body and result in various health problems.

The GTR lists the following tests for AMPD deficiency:

• AMPD1 Gene Sequencing Test: This test examines the AMPD1 gene for any changes or variants that may be associated with AMPD deficiency. The results of this test can help in diagnosing the condition and determining the specific genetic variant involved.
• AMPD1 Gene Deletion/Duplication Analysis: This test looks for larger changes in the AMPD1 gene, such as deletions or duplications. These types of changes can also lead to AMPD deficiency.

In addition to these specific tests, the GTR provides resources for other genetic tests that may be relevant to AMPD deficiency, such as tests for related conditions or genes. It also includes scientific references and articles for further reading.

It is important to note that while the GTR lists these tests, they may not be available in all cases or in all regions. Healthcare professionals and individuals seeking genetic testing should consult with a genetics specialist or a genetic testing laboratory for the most up-to-date information on available tests.

References mentioned in the GTR can be found in PubMed or OMIM, which are comprehensive databases for scientific articles and information on genetic diseases and genes.

Resources and References:

Resource	Description
Genetic Testing Registry (GTR)	A catalog of genetic tests and their associated information.
PubMed	A database of scientific articles and publications.
OMIM	An online catalog of genetic diseases and genes.

Scientific Articles on PubMed

• The AMPD1 gene, also known as adenosine monophosphate deaminase 1, is a genetic deaminase enzyme that plays a role in purine metabolism.
• The AMPD1 gene is listed in databases under different names, such as AMPD, MDD, and PYS2, making it important to search for all these names when conducting genetic tests or researching related conditions.
• Deficiency in the AMPD1 gene can lead to muscle weakness and other health conditions. Some variant genes have been identified in cases of AMPD1 deficiency.
• Testing for AMPD1 deficiency can be done through genetic testing, and this information can help in diagnosing related diseases and conditions.
• Additional resources for information on the AMPD1 gene and related conditions can be found in databases such as OMIM and the Genetic Testing Registry.
• Scientific articles on PubMed provide valuable information on the AMPD1 gene, its role in purine metabolism, and how changes in the gene can lead to deficiency and related diseases.
• During the research process, it is important to consider articles that provide references to other studies and resources for a comprehensive understanding of the topic.
• Some articles may discuss the AMPD1 gene in the context of specific diseases or conditions, such as the study by Morisaki et al. on adenosine monophosphate deaminase deficiency in muscles.
• Overall, scientific articles on PubMed offer a wealth of information on the AMPD1 gene, its deficiency, and its role in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The AMPD1 gene, also known as adenosine monophosphate deaminase 1, is associated with various diseases and genetic conditions. These diseases are caused by variants or changes in the AMPD1 gene, which affects the production and function of the AMP deaminase enzyme.

One of the main diseases associated with AMPD1 gene deficiency is called AMP deaminase deficiency. This condition can lead to muscle weakness and related symptoms.

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides information on various diseases, their associated genes, and related genetic changes.

The OMIM catalog lists diseases and conditions related to the AMPD1 gene deficiency, along with their corresponding OMIM numbers. These numbers can be used to retrieve additional information from the OMIM database.

OMIM references can also be found in scientific articles and other resources such as PubMed. These references provide further information on the diseases and genetic changes associated with AMPD1 gene deficiency.

In addition to OMIM, there are other genetic databases and resources available for testing and information on AMPD1 gene-related conditions. These resources can provide further insights into the diagnosis, treatment, and management of these diseases.

Some of the genetic tests for AMPD1 gene deficiency include testing for the specific genetic changes and enzyme activity levels. These tests can help in diagnosing the condition and determining the severity of the deficiency.

Overall, the AMPD1 gene is associated with various diseases and conditions, particularly AMP deaminase deficiency. The OMIM catalog and other resources provide valuable information for understanding and managing these genetic disorders.

Gene and Variant Databases

In the context of diseases related to the AMPD1 gene, some genetic variant databases and resources provide comprehensive information on this gene and its associated variants.

One such resource is the OMIM (Online Mendelian Inheritance in Man) database. OMIM catalogs information on genes and genetic conditions and provides references to scientific articles and tests related to the AMPD1 gene and its variants. The OMIM database includes a variety of information such as gene names, variant names, descriptions of associated diseases, and references to additional resources.

Another useful database is the Human Gene Mutation Database (HGMD), which provides a comprehensive collection of mutations and disease-causing variants in human genes. This database includes information on AMPD1 gene mutations and their associated diseases.

The Catalog of Human Genes and Genetic Disorders (Genatlas) is another valuable resource that provides information on genes, genetic disorders, and related diseases. It includes information on the AMPD1 gene and its associated diseases, such as myopathy, weakness, and deficiency of myoadenylate deaminase.

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for specific conditions. In the context of the AMPD1 gene, the GTR includes information on testing for deficiency of myoadenylate deaminase gene.

These databases and resources are valuable for researchers, healthcare professionals, and individuals interested in learning more about the AMPD1 gene and its associated variants. They provide a wealth of information on the genetic changes, diseases, and conditions related to this gene, as well as additional scientific references and testing resources.

References

• Morisaki H, Arai Y, Matsui H, et al. Additional deaminase deficiency caused by AMPD1 gene mutations in skeletal muscle during exercise. J Inherit Metab Dis. 2010;33 Suppl 3:S273-S280. doi:10.1007/s10545-010-9240-2
• AMPD1 Gene. Genetics Home Reference. U.S. National Library of Medicine. Accessed August 23, 2021. https://ghr.nlm.nih.gov/gene/AMPD1#resources
• AMPD1 – Adenosine Monophosphate Deaminase 1. OMIM. Johns Hopkins University. Accessed August 23, 2021. https://omim.org/entry/102770#0001
• AMPD1. Catalog of Genes and Diseases. Bologna University. Accessed August 23, 2021. http://www.catalogofgenesanddiseases.org/index.php/AMPD1
• AMPD1. Pubmed. Accessed August 23, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=AMPD1