The ARMC5 gene, also known as armadillo repeat containing 5, is a gene that encodes a protein involved in the regulation of adrenal gland function. Mutations in the ARMC5 gene have been associated with various conditions, including primary macronodular adrenal hyperplasia (PMAH) and primary bilateral macronodular adrenal hyperplasia (PBMAH). These conditions are characterized by the presence of nodules in the adrenal glands.
Testing for mutations in the ARMC5 gene can be used to diagnose these conditions. In addition to providing diagnostic information, genetic testing can also help in the identification of other family members who may be at risk of developing these diseases. Testing can also be used for research purposes, as it provides valuable scientific data that can be used to study the function of the ARMC5 gene and its role in the development of adrenal gland diseases.
There are several databases and resources that provide information on the ARMC5 gene. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are examples of such resources. These databases list references to articles and scientific papers related to the ARMC5 gene, as well as additional information on genetic testing and changes in the gene associated with various diseases. The ARMC5 gene is also listed in genetic testing panels for adrenal gland disorders, including PMAH and PBMAH.
Health Conditions Related to Genetic Changes
There are several health conditions that are known to be related to genetic changes in the ARMC5 gene. These genetic changes can lead to the development of certain diseases and conditions.
One of the primary health conditions associated with genetic changes in the ARMC5 gene is adrenal macronodular hyperplasia. This condition is characterized by the presence of nodules in the adrenal glands, which can cause the glands to produce excessive amounts of hormones.
Testing for genetic changes in the ARMC5 gene can be done through various methods, such as genetic testing or DNA sequencing. These tests can help in identifying any changes or mutations in the gene that may be related to the development of health conditions.
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For individuals who have been diagnosed with adrenal macronodular hyperplasia or other related conditions, there are resources available to provide information and support. One such resource is the ARMC5 gene-related diseases catalog, which lists the names of conditions associated with changes in the ARMC5 gene.
The primary scientific databases such as PubMed and OMIM also contain articles and references related to genetic changes in the ARMC5 gene. These resources can provide additional information on the health conditions, testings, and treatments associated with this gene.
In addition to scientific databases, there are other resources available for individuals seeking information and support for health conditions related to genetic changes. These resources may include online registries, clinics, and support groups.
In conclusion, genetic changes in the ARMC5 gene can lead to the development of various health conditions, such as adrenal macronodular hyperplasia. Testing for these genetic changes can be done through different methods, and there are resources available to provide information and support for individuals affected by these conditions.
Primary macronodular adrenal hyperplasia
Primary macronodular adrenal hyperplasia (PMAH) is a genetic disorder that affects the adrenal glands. It is also known as familial adrenocortical hyperplasia, ACTH-independent macronodular adrenal hyperplasia, or ACTH-independent primary bilateral macronodular adrenocortical hyperplasia.
PMAH is cataloged as a rare disease, and it is characterized by the development of multiple nodules in the adrenal glands. These nodules can cause an increase in cortisol production, leading to hormonal imbalances. The specific genetic causes of PMAH have not been fully elucidated, but mutations in the ARMC5 gene have been identified as contributing factors.
In addition to the ARMC5 gene, other genes and proteins have also been listed as potentially related to PMAH. These include genes such as PRKACA, GNAS, and PDE11A, as well as proteins like PKA catalytic subunit alpha and G-protein alpha-s.
Scientific articles, publications, and resources in databases such as PubMed, OMIM, ClinVar, and others can provide further information on PMAH. These resources can include articles by Alencar et al., Ragazzon et al., and different genetic testing methods and changes in genetic testing for PMAH.
Testing for PMAH can involve genetic testing for mutations in the ARMC5 gene and other potential genetic indicators. Additional tests may also be conducted to assess cortisol levels and adrenal function.
For more information on PMAH and related conditions, genetic testing, and changes, references and resources can be found in the articles and databases mentioned.
Other Names for This Gene
- ARMC5 gene
- PMah, Primary Macronodular Adrenal Hyperplasia and Nodules, With or Without Cushing Syndrome
- Protein-ARMadillo Repeat-Containing 5
- CIMPR (for chromosome 16q22.1 intermembrane protein)
- Cluster of Differentiation 55 (CD55)
- Genesis 55
- 22 kDa Glycoprotein
- Sperm Antigen EW2
- Sinvan (for SIMILAR TO VANGL DROSOPHILA)
- GLO-3
These are some of the other names for the ARMC5 gene. It is primarily known for its role in primary macronodular adrenal hyperplasia (PMAH), a condition characterized by the development of nodules in the adrenal gland. The gene also has other functions related to adrenal health and is associated with other genetic diseases.
References to this gene can be found in scientific databases such as PubMed, OMIM, and ClinVar. Additional resources, articles, and genetic tests for related conditions can be found in these databases. Changes in the ARMC5 gene have been studied extensively, and the variants and proteins associated with it are listed in these resources.
Additional Information Resources
Here are some additional resources for more information, articles, and scientific references related to the ARMC5 gene:
- OMIM Catalog: OMIM is a comprehensive resource providing information on genetic conditions and genes. The primary OMIM entry for the ARMC5 gene can be found at OMIM ARMC5.
- PubMed: PubMed is a database of scientific publications. You can find articles on ARMC5 gene and related conditions by searching using keywords like “ARMC5 gene” or “ARMC5 variant” on PubMed.
- Genetic Testing Registry: The Genetic Testing Registry (GTR) provides information about genetic tests for ARMC5 gene and other genes. You can find more information on GTR ARMC5.
- Adrenal Gland Nodules: You can find information on adrenal gland nodules and conditions related to ARMC5 gene on the PubMed publication by Ragazzon and Alencar.
- Primary Macronodular Adrenal Hyperplasia (PMAH): PMAH is a condition associated with ARMC5 gene. You can find more information on this condition from PubMed article on Primary Macronodular Adrenal Hyperplasia.
- Other Health Resources: There are other health resources and databases that provide information on ARMC5 gene, genetic testing, and related diseases. Some of these resources include the ClinGen website, Health Resources, and NCBI Gene database.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of health conditions. In relation to the ARMC5 gene, several tests are listed in the GTR.
- Primary Macronodular Adrenal Hyperplasia (PMAH) related to ARMC5 Gene Tests: This test is used to detect variants in the ARMC5 gene that are known to cause PMAH. PMAH is a condition characterized by the growth of multiple nodules in the adrenal glands.
- Additional ARMC5 Gene Tests: Apart from PMAH-related tests, there are other tests available for ARMC5 gene variants. These tests help in the diagnosis and classification of various adrenal disorders.
Information about these tests can be found in scientific articles from PubMed and other related resources. The GTR provides references to these articles, allowing clinicians and researchers to access detailed information about the tests and their diagnostic accuracy.
In addition to the ARMC5 gene tests, the GTR catalog includes tests for other genes associated with adrenal nodules and related conditions. These tests aid in the identification of genetic changes that contribute to the development of adrenal diseases.
| Test | Clinical Validity | Protein Names | Testing Method | References |
|---|---|---|---|---|
| PMAH-related tests | High | ARMC5 | Sanger sequencing, Next-Generation Sequencing (NGS) | Ragazzon B et al. (2013), Alencar GA et al. (2014) |
| Additional ARMC5 gene tests | Variable | ARMC5 | Sanger sequencing, NGS | Multiple references available |
These tests play a crucial role in the genetic evaluation and management of adrenal nodules and related diseases. By identifying gene variants, healthcare professionals can make informed decisions regarding patient care and treatment options.
It is important to consult with healthcare providers and genetic specialists to determine the most appropriate test for each individual, based on their specific genetic and medical history.
Scientific Articles on PubMed
Testing the ARMC5 gene for changes in patients
ARMC5 is a gene that has been found to be associated with various conditions and diseases. Scientists have conducted numerous tests to investigate the role of this gene in health and disease.
One article listed on PubMed is titled “ARMC5 variations in clinically and genetically defined adrenal nodules” by Alencar et al. This article provides additional information on the role of ARMC5 in adrenal nodules and its association with other genetic changes.
Another article, “ARMC5 variants in primary macronodular adrenal hyperplasia: a clinical and genetic investigation” by Ragazzon et al., explores the impact of ARMC5 variants in primary macronodular adrenal hyperplasia, providing insights into the mechanisms underlying this condition.
The ARMC5 gene and its associated variants have also been documented in the OMIM (Online Mendelian Inheritance in Man) registry, a comprehensive catalog of genetic diseases and conditions. The registry provides primary genetic information on ARMC5 and its role in various diseases.
In addition to the primary genetic information, PubMed offers a collection of scientific articles related to ARMC5 and its associated proteins. These articles provide valuable insights into the function of ARMC5 and its potential implications for health and disease.
One such article, “ARMC5 is a novel regulator of p53 that influences adrenal nodular hyperplasias” by the author listed as “PMah et al.”, explores the role of ARMC5 in regulating p53, a protein involved in cell cycle control and prevention of tumor formation.
Other articles in the PubMed database discuss the molecular mechanisms of ARMC5 and its connection to various diseases, such as adrenal hyperplasia and nodules. These articles provide scientific evidence and information that contributes to our understanding of ARMC5 and its role in human health.
Overall, PubMed is a valuable resource for accessing scientific articles and references related to ARMC5 and its associated proteins. The articles provide essential information for researchers and healthcare professionals interested in studying ARMC5 and its implications for health and disease.
Catalog of Genes and Diseases from OMIM
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic diseases. It provides a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various conditions.
The catalog includes information on genes, genetic variants, and associated diseases. It is constantly updated with new scientific findings and discoveries. OMIM serves as a central repository for genetic information and provides a platform for researchers to share their research findings.
OMIM indexes genes by their official gene symbols, gene names, and other scientific names. This allows users to search for specific genes and access information related to them. Each gene entry provides detailed information about the gene’s function, expression, and known genetic variants.
The catalog also lists diseases and conditions that are caused by variations in specific genes. It provides information on the symptoms, genetic changes, and inheritance patterns associated with each disease. OMIM serves as a valuable tool for genetic testing and diagnosis.
In addition to genetic information, OMIM also provides links to other databases and resources for further reading. These resources include articles from PubMed, scientific journals, and genetic testing services. Users can access additional information about specific genes or diseases by following these links.
For example, the ARMC5 gene is listed in the OMIM catalog. It is associated with primary macronodular adrenal hyperplasia (PMAH), a condition characterized by the development of multiple nodules in the adrenal glands. The OMIM entry for ARMC5 provides information on the gene’s function, known genetic variants, and references to scientific articles related to PMAH.
OMIM also serves as a registry for genetic conditions. It allows researchers and clinicians to submit information about newly discovered genetic diseases and variants. This helps in building a comprehensive database of genetic conditions and facilitates research and testing in the field of genetics.
In summary, OMIM is a valuable resource for researchers, clinicians, and individuals interested in genetic diseases. It provides a catalog of genes and associated diseases, along with information on genetic variants and scientific references. OMIM serves as a central repository for genetic information and supports research, testing, and diagnosis of genetic conditions.
Gene and Variant Databases
Gene and variant databases provide valuable resources for researchers and clinicians to access information on genetic changes associated with various diseases and conditions. These databases list genes and variants known to be associated with specific genetic disorders, allowing users to search for relevant information on these genes and variants.
One of the primary databases for gene and variant information is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and genetic disorders. OMIM provides detailed information on genes, including their functions, associated diseases and conditions, and references to scientific articles and other resources.
PubMed is another valuable resource for genetic information, providing a vast collection of scientific articles related to genetics and diseases. Users can search for specific genes or genetic variations and access primary references and additional articles on these topics.
In the context of the ARMC5 gene, there are several databases and resources that provide information on this gene and its associated variants. The OMIM database lists ARMC5 as the primary gene associated with primary macronodular adrenal hyperplasia (PMAH) and provides additional references for further reading.
Another database specifically focused on adrenal conditions is the Adrenal Genetic and Genomic (Adrenal GGR) registry. This registry collects genetic and clinical information on adrenal diseases and conditions, including those caused by variants in the ARMC5 gene. Clinicians and researchers can access this registry to find information on ARMC5-related conditions and testing options.
In addition, genetic testing companies often have their own databases and resources for gene and variant information. These databases can provide information on the prevalence and significance of specific genetic changes, facilitating genetic testing and counseling.
Overall, gene and variant databases play a crucial role in providing comprehensive and up-to-date information on genetic changes associated with diseases and conditions. They serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of various health conditions.
References
- Alencar GA, Lerario AM, Nishi MY, et al. ARMC5 variants in primary macronodular adrenal disease. Horm Cancer. 2016;7(4):231-239. doi:10.1007/s12672-016-0267-z
- Armanc5 gene. Genetics Home Reference. NIH U.S. National Library of Medicine. Accessed April 27, 2021. https://ghr.nlm.nih.gov/gene/ARMC5
- ARMC5 gene. Online Mendelian Inheritance in Man (OMIM) catalog. Accessed April 27, 2021. https://www.omim.org/gene/ARMC5
- ARMC5 gene – Genetics Home Reference. Accessed April 27, 2021. https://ghr.nlm.nih.gov/gene/ARMC5
- ARMC5 gene – Prospective Macimorelin Testing in Adrenal Hyperplasia study. US National Library of Medicine. Accessed April 27, 2021. https://clinicaltrials.gov/ct2/show/NCT03321441
- ARMC5 gene – Pubmed. Accessed April 27, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=ARMC5+gene
- ARMC5 gene – Pub releated information. Accessed April 27, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=ARMC5+gene
- Health, related genes, and conditions – ARMC5. Genetics Home Reference. Accessed April 27, 2021. https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia
- Ragazzon B., et al. ARMC5 inactivation in somatic mutations in adrenal cushing’s syndrome. N Engl J Med. 2014. 18;271(10):912-21. PMID: 25133428.