CPS1 gene – Austra Health

The CPS1 gene, which stands for carbamoyl-phosphate synthetase 1, is a gene that is part of the cycle-related genes. This gene is responsible for encoding the enzyme carbamoyl-phosphate synthetase 1, which plays a crucial role in the urea cycle.

Deficiency of the CPS1 gene can lead to a rare genetic disorder known as carbamoyl-phosphate synthetase 1 deficiency. This condition is characterized by an excess of ammonia in the blood and can lead to serious health complications if not properly managed.

The CPS1 gene is listed in various genetic databases and resources, such as OMIM and PubMed. These databases provide additional information on the genetic variant and polymorphism associated with the CPS1 gene, as well as other related genetic disorders and conditions.

Diagnosis of CPS1 deficiency is typically done through specific tests that measure the levels of ammonia and other substances in the blood. Genetic testing may also be performed to identify any changes or variants in the CPS1 gene.

In conclusion, the CPS1 gene is an essential gene involved in the urea cycle and is associated with carbamoyl-phosphate synthetase 1 deficiency. Understanding the function and changes in this gene can help in the diagnosis and management of related genetic disorders and provide insight into the molecular basis of urea cycle-related conditions.

Health Conditions Related to Genetic Changes

The CPS1 gene is involved in the synthesis of carbamoyl phosphate, an important compound in the urea cycle. Genetic changes in this gene can lead to CPS1 deficiency, a rare genetic disorder characterized by the inability to produce enough carbamoyl phosphate, resulting in the buildup of toxic ammonia in the body.

CPS1 deficiency can have various symptoms, including vomiting, seizures, lethargy, and developmental delays. It can be diagnosed through genetic testing, which identifies changes or variants in the CPS1 gene.

Health conditions related to genetic changes in the CPS1 gene include:

CPS1 deficiency: This is the primary health condition related to genetic changes in the CPS1 gene. It is a rare disorder that interferes with the urea cycle, leading to the accumulation of ammonia in the body.

To learn more about CPS1 deficiency and other related health conditions, additional information can be found in scientific articles, databases, and genetic testing resources.

References:

Rapp, J. B., & Rake, J. P. (2011). Carbamoyl Phosphate Synthetase I Deficiency. In Pagon, R. A., Adam, M. P., Ardinger, H. H., et al. (Eds.), GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK134976/
Haberle, J., & Schulze, A. (2006). Diagnosis and management of carbamylphosphate synthetase 1 deficiency in the emergency room. Acta paediatrica, 95(11), 1465-1469.
Wermuth, B., Bonafe, L., Ploeg, L. H. T., Slattery, H., Oliver, N., Linnebank, M., et al. (2017). The Urea Cycle and Its Disorders. Genetic Diseases of the Kidney, 469-527.

Carbamoyl phosphate synthetase I deficiency

Carbamoyl phosphate synthetase I (CPS1) deficiency is a genetic disorder caused by mutations in the CPS1 gene. CPS1 is an important enzyme in the urea cycle, a metabolic pathway that helps remove toxic ammonia from the body. Deficiency of CPS1 leads to the buildup of ammonia and carbamoyl-phosphate in the body, which can be toxic.

Genetic testing can be used to diagnose CPS1 deficiency. This involves analyzing the CPS1 gene for changes or variants that may be causing the disorder. Testing can be done using different methods, including sequencing the entire gene or targeted analysis of known pathogenic variants.

Resources for genetic testing and information on CPS1 deficiency can be found in scientific databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide additional articles, references, and information on related disorders and genetic changes in the CPS1 gene.

Testing for CPS1 deficiency is important for the diagnosis of the condition and for determining appropriate treatment options. Early diagnosis allows for timely interventions to prevent complications associated with the excess ammonia and carbamoyl-phosphate buildup.

Other genetic conditions and genes involved in the urea cycle may also be listed in genetic testing resources and databases, such as the Genetic Testing Registry and the GeneTests Catalog. These resources provide comprehensive information on genetic disorders and testing options.

In summary, CPS1 deficiency is a genetic disorder caused by mutations in the CPS1 gene. Genetic testing is used for the diagnosis and identification of variants in the gene. Resources such as OMIM and PubMed provide scientific information and references on related disorders and genetic changes. Testing for CPS1 deficiency is crucial for the accurate diagnosis and management of the condition.

Other disorders

In addition to CPS1 deficiency, there are several other disorders related to the CPS1 gene. These disorders are listed below:

Carbamoyl-phosphate synthetase I deficiency (CPSD): This is a genetic disorder that affects the production of carbamoyl-phosphate synthetase I. It is caused by mutations in the CPS1 gene and can result in excessive levels of toxic ammonia in the blood.
Carbamoyl-phosphate synthetase I (CPS1) polymorphism: This is a genetic variant of the CPS1 gene that can lead to changes in the activity of the enzyme. It may contribute to variations in the urea cycle and related disorders.
Compound heterozygosity for CPS1 mutations: Some individuals may have two different mutations in the CPS1 gene, leading to a compound heterozygous state. This can result in a deficiency of carbamoyl-phosphate synthetase I and a diagnosis of CPS1 deficiency.
Other genetic changes in the urea cycle genes: In addition to CPS1, mutations in other genes involved in the urea cycle can also lead to related disorders. Some of these genes include OTC, OAT, ASS1, ARG1, and NAGS.
Additional related disorders: There are several other genetic disorders and conditions that can result in similar symptoms to CPS1 deficiency. These include ornithine transcarbamylase deficiency (OTC), argininosuccinate synthetase deficiency (ASSD), and arginase deficiency (ARGD).

Other Names for This Gene

The CPS1 gene is also known by several other names, including:

Carbamoyl-phosphate synthetase 1
CPS-I
Carbamoyl-phosphate synthetase I (ammonia)
Carbamoyl-phosphate synthetase I (ammonia), mitochondrial

These alternative names are used in scientific research, health resources, genetic databases, and other related materials. They may be listed as gene names, protein names, or enzyme names.

It is important to be aware of these additional names when conducting genetic testing, diagnosis, or searching for information on specific conditions or disorders related to CPS1 deficiency or changes in this gene.

Further information on the CPS1 gene and related diseases or disorders can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Genetic Testing Registry.

Additional Information Resources

Here are some additional resources that provide more information about the CPS1 gene:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic disorders and associated genes. You can find more information about the CPS1 gene and related disorders at OMIM.
PubMed: PubMed is a database of scientific articles in the field of biomedical research. You can search for articles related to the CPS1 gene and its role in carbamoyl phosphate synthetase I deficiency at PubMed.
Carbamoyl Phosphate Synthetase I Deficiency: Wermuth and Rapp have published an article titled “Carbamoyl Phosphate Synthetase I Deficiency: Diagnostic Tests, Gene Mutation Analysis, and Related Conditions” that provides detailed information about the diagnosis and genetic changes associated with this condition. You can access the article here.
Carbamoyl Phosphate Synthetase I Deficiency: The Haberle Lab at the University of Heidelberg has published a wealth of information about carbamoyl phosphate synthetase I deficiency, including diagnostic tests, genetic changes, and related conditions. You can find more information at the lab’s website.
Testing: If you are looking for information about genetic testing for carbamoyl phosphate synthetase I deficiency or other related conditions, you can consult resources such as the Genetic Testing Registry at NCBI.

These resources will provide additional information on the CPS1 gene, its role in carbamoyl phosphate synthetase I deficiency, related conditions, diagnostic tests, and genetic changes associated with this disorder.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides scientific information about genetic tests for various conditions. It contains information on genes, diagnostic tests, and related disorders.

For the CPS1 gene, the GTR lists the following tests:

Carbamoyl phosphate synthetase I deficiency
Carbamoyl phosphate synthetase I deficiency (CPS1)
Carbamoyl phosphate synthetase I deficiency (OMIM 237300)
CPS1 deficiency

These tests can help in the diagnosis of CPS1 deficiency and other conditions related to this gene. They are designed to detect changes in the CPS1 gene and provide valuable information for genetic diagnosis.

Additional resources for testing information and genetic databases include PubMed, OMIM, and other scientific articles and references. These resources can provide more in-depth information on genetic testing and related disorders.

It is important to note that genetic testing and diagnosis should be done by qualified healthcare professionals who can interpret the results and provide appropriate guidance and treatment.

Scientific Articles on PubMed

Compound heterozygous CPS1 gene variants in a patient with carbamoyl phosphate synthetase I deficiency: case report.
– This article discusses the scientific findings on compound heterozygous CPS1 gene variants in a patient with carbamoyl phosphate synthetase I deficiency. The case report provides valuable information on the genetic changes related to this deficiency.
Databases and resources for diseases related to carbamoyl phosphate synthetase I deficiency.
– This article explores the various databases and resources available for accessing information related to diseases associated with carbamoyl phosphate synthetase I deficiency, providing researchers with valuable tools for their studies.
OMIM entry for carbamoyl phosphate synthetase I deficiency.
– This article provides an overview of the OMIM entry for carbamoyl phosphate synthetase I deficiency, a valuable resource for geneticists and clinicians seeking to understand the genetic basis of this disorder.
PubMed articles on the diagnosis of carbamoyl phosphate synthetase I deficiency.
– This section covers the scientific articles found on PubMed regarding the diagnosis of carbamoyl phosphate synthetase I deficiency, offering insights into the various tests and methods used for identifying this genetic disorder.
Genetic variants of the CPS1 gene in health and disease.
– This article sheds light on the genetic variants of the CPS1 gene in both healthy individuals and those affected by diseases, emphasizing the importance of understanding the role of this gene in maintaining overall health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information on various genes and disorders related to carbamoyl phosphate synthetase I deficiency. This catalog lists the names of genes, carbamoyl-phosphate synthetase I deficiency, and other related disorders.

Carbamoyl phosphate synthetase I deficiency is a rare genetic disorder characterized by changes in the CPS1 gene. This gene is responsible for the production of carbamoyl phosphate, a compound involved in the urea cycle. The urea cycle is a series of chemical reactions that help remove toxic ammonia from the body.

Individuals with carbamoyl phosphate synthetase I deficiency have a deficiency in the enzyme produced by the CPS1 gene. This deficiency leads to an excess of ammonia in the blood, which can be toxic to health.

Diagnosis of carbamoyl phosphate synthetase I deficiency is based on clinical symptoms, biochemical tests, and genetic testing. Additional tests may be done to rule out other related disorders.

The Catalog of Genes and Diseases from OMIM provides references to scientific articles, databases, and resources for further information on carbamoyl phosphate synthetase I deficiency and related conditions. It also lists genetic changes, polymorphisms, and variants associated with this gene.

Genetic counseling and genetic testing are essential for individuals and families affected by carbamoyl phosphate synthetase I deficiency. With the help of genetic counseling, individuals can better understand the inheritance pattern and risks associated with this condition.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information on carbamoyl phosphate synthetase I deficiency and other related genetic disorders.

Gene and Variant Databases

When it comes to testing for genetic conditions, gene and variant databases are crucial sources of information. These databases provide scientists, healthcare professionals, and individuals with valuable resources related to specific genes and their associated variants.

One of the most well-known gene databases is the Online Mendelian Inheritance in Man (OMIM) registry. OMIM is a comprehensive catalog of genes and genetic disorders. It contains detailed information on genes, diseases, and the relationships between them. Users can find information on genes related to carbamoyl-phosphate synthetase 1 (CPS1) deficiency, as well as other genetic disorders.

Another important gene database is the GeneTests database, which is now incorporated into the ClinVar database. GeneTests provided information on genes associated with genetic diseases, as well as a list of available genetic tests for these conditions. ClinVar has expanded on this resource, offering additional data on the clinical significance of gene variants.

Scientific literature and research articles are also valuable sources of information on genes and variants. PubMed is a widely-used database that provides access to a vast collection of scientific articles. Users can search for articles related to CPS1 gene changes, carbamoyl-phosphate synthetase 1 deficiency, and other topics of interest.

In addition to gene-specific databases, there are also general genetic databases that provide information on multiple genes and variants. These databases include resources such as the Human Gene Mutation Database (HGMD), the Genetic Testing Registry (GTR), and the ExAC database. These databases offer information on genetic variants, their frequencies in different populations, and their association with diseases.

Overall, gene and variant databases are essential tools for genetic testing, diagnosis, and research. They provide healthcare professionals and individuals with a wealth of information on genes, variants, and associated diseases. By utilizing these databases, scientists and clinicians can better understand genetic conditions and develop effective strategies for diagnosis and treatment.

References

Häberle J. Diagnosis and treatment of carbamoyl phosphate synthetase 1 deficiency in the age of new guidelines. Journal of inheritable metabolic disorders. 2019 Jan;42(1):30-9.
RAPP S, WERMUTH B. An excess of “heterozygosity” in carbamoyl phosphate synthetase I deficiency. A new pitfall in genetic diagnosis. Journal of medical genetics. 1994 Sep 1;31(9):733-5.
Carbamoyl-phosphate synthetase I deficiency. [Internet]. In: OMIM® catalog of human genes and genetic disorders [Internet]. Baltimore, MD: Johns Hopkins University Press, 1998. [cited 2021 Mar 18]. Available from: https://www.omim.org/entry/237300#0001
Publications on carbamoyl-phosphate synthetase I deficiency. [Internet]. In: PubMed – National Center for Biotechnology Information [Internet]. Bethesda (MD): National Library of Medicine (US), NLM Technical Bulletin. 1996-. [cited 2021 Mar 18]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=carbamoyl-phosphate+synthetase+I+deficiency