The NNT gene is a genetic variant that has been found to cause deficiency in the enzyme NAD(P)H:quinone oxidoreductase 1 (NQO1). This deficiency can lead to various health conditions and diseases.
Studies have shown that changes in the NNT gene can affect the body’s ability to produce enough NQO1, which is involved in the metabolism of glucocorticoids. Glucocorticoids are a type of hormone that plays a role in the body’s response to stress and inflammation.
Deficiency in NQO1 can lead to a variety of conditions, including familial glucocorticoid deficiency and other related endocrinological diseases. Testing for changes in the NNT gene can help diagnose these conditions and provide additional information on treatment and management.
Information on the NNT gene and related genes can be found in scientific databases such as PubMed, OMIM, and the NADP gene catalog. These resources list articles, references, and other information on the NNT gene and its role in various diseases and conditions.
The NNT gene is an important area of research, and further studies are needed to fully understand its role in different diseases and conditions. Additionally, testing for variations in the NNT gene can be an important tool in diagnosing and managing these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the NNT gene can lead to various health conditions. Some of these conditions include:
- Familial glucocorticoid deficiency
- Steroid 21-hydroxylase deficiency
- Other forms of adrenal insufficiency
- Reactive oxygen species-related diseases
- NADPH oxidase deficiency
The NNT gene is responsible for encoding the nicotinamide nucleotide transhydrogenase enzyme. This enzyme plays a crucial role in the generation of NADPH, which is involved in various cellular functions. Genetic changes in the NNT gene can lead to a deficiency in NADPH production, which can cause a range of health conditions.
Some of the health conditions related to genetic changes in the NNT gene can have significant impacts on an individual’s health and well-being. These conditions may manifest in different ways and can cause various symptoms, including hormonal imbalances and oxidative stress.
Genetic testing can help identify changes in the NNT gene and provide valuable information for diagnosing and managing these conditions. Many resources and databases, such as OMIM and PubMed, provide additional articles and references on the genetic changes and health conditions related to the NNT gene.
| Gene | Health Condition |
|---|---|
| NNT | Familial glucocorticoid deficiency |
| NNT | Steroid 21-hydroxylase deficiency |
| NNT | Other forms of adrenal insufficiency |
| NNT | Reactive oxygen species-related diseases |
| NNT | NADPH oxidase deficiency |
It is important to consult with healthcare professionals and genetic counselors to understand the implications of genetic changes in the NNT gene and to determine the appropriate testing and management strategies for individuals with these conditions.
Familial glucocorticoid deficiency
Familial glucocorticoid deficiency (FGD) is a rare genetic condition that causes changes in the NNT gene, which is related to the production and regulation of glucocorticoids. Glucocorticoids are hormones that play a key role in various processes in the body, including the regulation of metabolism, immune response, and stress response.
In individuals with FGD, mutations in the NNT gene lead to a deficiency in the production of glucocorticoids. As a result, affected individuals may experience symptoms such as adrenal insufficiency, low blood sugar levels, and failure to thrive. FGD is typically diagnosed in early childhood and requires lifelong hormone replacement therapy.
This article provides information on FGD, including the genetic cause, symptoms, and management of the condition. It also lists resources for scientific articles, databases, and testing laboratories related to FGD and other endocrinological diseases.
Causes and Genetics
FGD is caused by mutations in the NNT gene, which codes for an enzyme called nicotinamide nucleotide transhydrogenase. This enzyme is involved in the production of the coenzyme NADPH, which is required for the synthesis of glucocorticoids.
The NNT gene is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene (one from each parent) to develop FGD. Carriers of a single copy of the mutated gene typically do not have any symptoms of the condition.
Diagnosis and Testing
The diagnosis of FGD is usually made based on the clinical symptoms and confirmed through genetic testing. Genetic testing can identify the specific variant in the NNT gene that is responsible for the condition.
Testing for FGD can be performed by specialized laboratories that offer genetic testing for endocrine disorders. Additional tests, such as blood cortisol levels and ACTH stimulation tests, may also be conducted to assess adrenal function.
Resources and Additional Information
For additional information on FGD, the following resources and databases can be accessed:
- The NADP^+ nucleotide gene variant catalog: This catalog provides a comprehensive list of gene variants in the NNT gene associated with FGD.
- The FGD registry: This registry collects and compiles information on individuals diagnosed with FGD, including their clinical features and genetic findings.
- PubMed and OMIM: These databases contain scientific articles and references related to FGD, including studies on the genetics, pathophysiology, and management of the condition.
In conclusion, familial glucocorticoid deficiency is a rare genetic condition caused by mutations in the NNT gene. It leads to a deficiency in the production of glucocorticoids, resulting in adrenal insufficiency and other symptoms. Diagnosis is based on clinical features and confirmed through genetic testing. Resources and databases provide additional information and references for further research on FGD.
Other Names for This Gene
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Additional Information Resources
- OMIM – Online Mendelian Inheritance in Man: A catalog of human genes and genetic disorders. OMIM provides information on the NNT gene, including gene function, associated diseases, and genetic variants. (https://omim.org/)
- PubMed: A database of scientific articles in the field of medicine and related disciplines. PubMed contains numerous articles related to the NNT gene, its functions, and diseases associated with its deficiency. (https://pubmed.ncbi.nlm.nih.gov/)
- Endocrinol: An open access journal publishing scientific articles in the field of endocrinology. Endocrinol may have articles discussing the role of the NNT gene in glucocorticoid metabolism and related conditions. (https://www.endocrinol.org/)
- Genetic Testing Registry (GTR): A resource that provides information on genetic tests for specific genes and conditions. GTR may have information on genetic tests available for the NNT gene and associated diseases. (https://www.ncbi.nlm.nih.gov/gtr/)
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information on genetic tests that are available for a variety of conditions. The GTR is a comprehensive resource that includes information on tests for both rare and common genetic disorders.
When it comes to the NNT gene, the GTR provides a list of tests that are available for genetic testing related to this gene. These tests can help determine if there are any variants or changes in the NNT gene that may be associated with certain conditions. Below are some of the tests listed in the GTR that are related to the NNT gene:
- NADPH:quinone oxidoreductase 1 (NQO1) variant analysis
- Glucocorticoid-induced Osteoporosis
- Familial glucocorticoid deficiency
- Nucleotide change analysis
These tests can provide important information about the NNT gene and its role in various diseases and conditions. In addition to the tests listed in the GTR, there may be other tests available that are not included in the database. It is always recommended to consult with a healthcare provider or genetic counselor for more information on available tests.
Further information on the tests listed in the GTR can be found through additional resources such as PubMed, OMIM, and scientific articles. These resources provide detailed information on the tests, including the specific gene variants they target, the conditions they are associated with, and references to related research.
Scientific Articles on PubMed
PubMed is a comprehensive database that provides access to a vast collection of scientific articles related to various health conditions, genes, and diseases. It is an invaluable resource for researchers and healthcare professionals seeking up-to-date information about genetic disorders and related topics.
The NNT gene, also known as NAD(P)H steroid dehydrogenase-like, is one of the genes that have been extensively studied in the context of health conditions. Mutations or changes in this gene can lead to NNT deficiency, which is associated with reactive glucocorticoid testing, glucocorticoids, and endocrinol diseases.
OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genetic information that provides detailed information about genes, genetic variants, and diseases. It is a valuable resource for researchers and healthcare professionals looking to explore the genetic basis of various health conditions. OMIM provides references to scientific articles related to NNT deficiency and other diseases.
PubMed allows researchers and healthcare professionals to search for scientific articles related to NNT gene and NNT deficiency. The search results provide a list of articles that can be further explored for additional information. These articles may include information on the genetic changes associated with NNT deficiency, testing methods for identifying NNT gene variants, and the impact of NNT deficiency on health.
Additional resources such as other genetic databases and catalogs can also be found on PubMed. These resources provide valuable information on genes related to NNT, their functions, and their potential implications in various health conditions. Researchers and healthcare professionals can use these resources to enhance their understanding of NNT gene and its role in health and disease.
In conclusion, PubMed offers a wide range of scientific articles related to the NNT gene and NNT deficiency. These articles provide valuable insights into the genetic basis of various health conditions and can aid in the development of diagnostic tests and treatment strategies. Researchers and healthcare professionals can utilize PubMed to stay updated with the latest research and discoveries in the field of genetics.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic conditions. It provides a vast amount of scientific information on various genetic disorders and their associated genes.
OMIM serves as a valuable resource for researchers, clinicians, and individuals seeking information about genetic diseases. It includes information on the inheritance pattern, clinical features, molecular genetics, and references to relevant scientific articles.
- OMIM provides a registry of genes associated with familial glucocorticoid deficiency (FGD). FGD is a rare genetic disorder characterized by an inability to produce or respond to glucocorticoids, which are important hormones involved in various metabolic and immune functions. Mutations in the NNT gene have been found to cause FGD.
- In addition to FGD, OMIM lists other conditions associated with changes in the NNT gene. These conditions include reactive hypoglycemia and other related endocrinological disorders.
- OMIM also provides information on the genetic variant nomenclature and other gene names for the NNT gene.
- OMIM references scientific articles and other scientific resources, such as PubMed and nucleotide databases, for further information on the NNT gene and associated conditions.
- Healthcare professionals can use OMIM to access testing and diagnostic resources for genetic conditions. OMIM provides information on available tests, including genetic testing and biochemical testing, for various genetic disorders.
- OMIM allows users to search for specific genes or diseases of interest. The database provides a user-friendly interface to access the cataloged information.
Overall, OMIM serves as a comprehensive catalog of genes and genetic diseases, offering a wealth of scientific information and resources for researchers, clinicians, and individuals interested in genetic conditions.
Gene and Variant Databases
Gene and variant databases are important resources for researchers and clinicians working in the field of endocrinology. These databases provide information about genes, variants, and associated diseases, serving as a valuable reference for genetic testing and research.
One of the key databases in this field is PubMed, which is a comprehensive resource for scientific articles. PubMed contains a vast amount of information on genes and variants, including references to articles related to NNT gene and its variants. Researchers can search PubMed to find articles on specific genetic changes, variant testing, and associated diseases such as glucocorticoid deficiency.
OMIM is another important database that provides in-depth information on genetic disorders. It catalogs information on genes, variants, and associated diseases, including NNT gene and its variants. OMIM also provides additional names for genes, helping researchers find relevant information from other databases.
The Genetic Testing Registry (GTR) is a centralized resource that provides information on genetic tests for specific conditions. It includes information on genes, variants, and associated diseases, making it a useful tool for clinicians and researchers investigating NNT gene and its variants.
Other databases, such as the NCBI Gene database and the HUGO Gene Nomenclature Committee (HGNC), also provide valuable information on genes and variants. These databases list genes and their associated names, providing a comprehensive view of the genes involved in endocrinological conditions.
Reactive Nucleotide databases, such as the NADP database, can provide information on reactive nucleotide changes and their effects on genes. This database specifically focuses on changes in NNT gene and related conditions.
Overall, gene and variant databases play a significant role in providing valuable information on genes, variants, and associated diseases. Researchers and clinicians can rely on these resources to enhance their understanding of NNT gene and its variants, enabling them to make better-informed decisions related to health and disease.
References
- Fainero, F., Binart, N. (2021). NNT gene. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing. Available from: https://www.ncbi.nlm.nih.gov/books/NBK525994/.
- Pinto, G., Vottero, A., Costa-Barbosa, F.A., et al. (2010). The NNT gene as a candidate gene for glucocorticoid deficiency. Eur J Endocrinol, 162(3), 439-444. doi: 10.1530/EJE-09-0769.
- Broughton, J., Saenz, A.J., Agarwal, A.K. (2021). NICHD research on NNT gene. Available from: https://www.nichd.nih.gov/research/supported/NNT-gene.
- MedlinePlus. (2021). NNT gene. Available from: https://medlineplus.gov/genetics/gene/nnt/.
- OMIM. (2021). NNT gene. Available from: https://www.omim.org/entry/600185.