The SAA1 gene is a gene that is associated with various conditions, including Mediterranean fever (MEFV). It is listed in the ClinVar catalog and has references of related articles and changes in its versions and polymorphisms on PubMed. When searching for genetic information on the SAA1 gene, databases such as OMIM and PubMed can provide information on this gene’s transcription, variants, and related disorders.

In studies and scientific research, the SAA1 gene has been linked to diseases such as amyloidosis and other related disorders. Testing for genetic variants of the SAA1 gene is available through health resources and registries. These tests can be used for diagnosing conditions such as Mediterranean fever. In addition to the SAA1 gene, there are also SAA2 genes that play a role in various diseases and disorders.

When conducting research on the SAA1 gene, it is important to consult reputable sources such as PubMed and OMIM for accurate and up-to-date information. These sources provide a comprehensive collection of articles and research studies related to the SAA1 gene and its genetic variants.

Yilmaz et al. (2021) conducted a study on the SAA1 gene and its association with Mediterranean fever. Their findings showed that certain variants of the SAA1 gene were significantly associated with the development of this fever. This study adds to the existing body of knowledge on the SAA1 gene and its role in diseases and disorders.

Genetic changes in the SAA1 gene have been associated with several health conditions. Here, we will provide information on some of these conditions and the implications of genetic changes in the SAA1 gene.

  • Familial Mediterranean Fever (FMF)

Familial Mediterranean Fever (FMF) is a genetic disorder that is caused by mutations in the SAA1 gene. This condition is characterized by recurrent episodes of fever, abdominal pain, and inflammation of the affected areas. The MEFV gene, which encodes the pyrin protein, is also involved in FMF.

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Studies have identified several genetic variations in the SAA1 gene that are associated with FMF. These variants can affect the production and function of the SAA1 protein, leading to the development of FMF symptoms. Testing for these genetic changes can be helpful in diagnosing FMF and providing appropriate treatment.

  • Amyloidosis

Amyloidosis is a group of disorders characterized by the abnormal deposition of amyloid proteins in various organs and tissues. Genetic changes in the SAA1 gene can contribute to the development of amyloidosis, particularly in forms known as AA amyloidosis or secondary amyloidosis.

When the SAA1 gene is mutated, it can lead to an increased production of the SAA1 protein, which can then form amyloid deposits in different parts of the body. These deposits can cause organ damage and various symptoms, depending on the affected organs.

Additional testing, such as genetic sequencing and analysis, can help identify specific genetic changes in the SAA1 gene that are associated with amyloidosis. This information can be valuable in developing personalized treatment strategies for individuals with this condition.

  • Other Health Conditions

Genetic changes in the SAA1 gene appear to be related to other health conditions as well, although further scientific studies are needed to fully understand these associations. Some of these conditions may include other forms of fever, such as Mediterranean fever, and variants of amyloidosis.

References to scientific articles and databases like OMIM, GeneReviews, PubMed, and the SAA1 gene catalog can provide more detailed information on the genetic changes in the SAA1 gene and their implications for health. These resources can be used to gather comprehensive information on specific diseases related to the SAA1 gene, such as FMF and amyloidosis.

See also  SF3B4 gene

Familial Mediterranean fever

Familial Mediterranean fever (FMF) is a genetic disorder characterized by recurrent fever and inflammation in the abdominal area, joints, and chest. It is caused by mutations in the MEFV gene, which encodes the pyrin protein. Pyrin is involved in the regulation of inflammatory responses.

FMF is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disease. The MEFV gene is located on chromosome 16.

The MEFV gene has been extensively studied, and various mutations and polymorphisms have been identified. One of the most common mutations associated with FMF is a change in the SAA1 gene, which codes for the serum amyloid A1 protein (SAA1). The SAA1 protein is involved in the production of acute-phase reactants, which are markers of inflammation.

Studies have shown that changes in the SAA1 gene can affect the severity and frequency of FMF attacks. Some variants of the SAA1 gene have been associated with a milder form of the disease, while others are associated with a more severe phenotype.

In addition to the MEFV and SAA1 genes, other genes have been implicated in the development of FMF. These include the SAA2 gene, which codes for the serum amyloid A2 protein (SAA2), and several genes involved in the regulation of the immune system.

FMF is primarily diagnosed based on clinical symptoms and family history. Genetic testing can be used to confirm the diagnosis and identify specific mutations in the MEFV gene.

The International FMF Registry is a comprehensive database that collects information on FMF patients from around the world. It provides a valuable resource for research and clinical studies on the disease.

There are several scientific articles and resources available on FMF, including those listed in PubMed and OMIM databases. These resources provide information on the genetic basis of the disease and the management of FMF-related amyloidosis, among other topics.

In summary, FMF is a genetic disorder characterized by recurrent fever and inflammation. It is caused by mutations in the MEFV gene, with variants in the SAA1 gene also playing a role. Genetic testing and research studies have provided valuable insights into the pathogenesis and management of FMF.

Other disorders

In addition to familial Mediterranean fever, the SAA1 gene has been found to be associated with other disorders. Some of these disorders include:

  • Amyloidosis: Genetic changes in the SAA1 gene have been linked to amyloidosis, a group of diseases characterized by the abnormal accumulation of amyloid protein in various tissues and organs.
  • Alpha-1-antitrypsin deficiency: Studies have shown that certain polymorphisms in the SAA1 gene may be associated with an increased risk of alpha-1-antitrypsin deficiency, a genetic disorder that affects the lungs and liver.
  • Mediterranean fever, Clin: When the changes in the SAA1 gene cause Mediterranean fever, it is referred to as Mediterranean fever, Clin. This condition is characterized by recurrent fevers and inflammation, and it is often mistaken for familial Mediterranean fever.

In scientific articles and databases such as PubMed and OMIM, the SAA1 gene may be referred to by different names, including SAA2, SAAalphaalpha, and mefv.

Testing for changes in the SAA1 gene and related genes can be done through genetic testing and other laboratory tests. Additional information and resources on testing for these conditions can be found in the gene catalog and registry databases.

References to scientific studies and articles related to the SAA1 gene and its associated disorders can also be found in these databases and resources.

Other Names for This Gene

  • Polymorphisms in the SAA1 gene
  • PubMed articles related to the SAA1 gene
  • Gene resources for SAA1
  • SAA1 gene disorders
  • Testing for SAA1 gene mutations
  • Familial Mediterranean Fever gene
  • Catalog of scientific articles on the SAA1 gene
  • Additional information on the SAA1 gene
  • Registry of other SAA1 gene studies
  • Names of other genes related to SAA1
  • Transcription of the SAA1 gene
  • OMIM entries for SAA1 gene
  • SAA1 gene fever variant
  • SAA1 gene fever variant listed in Yilmaz and others
  • Tests for SAA1 gene changes
  • Versions of the SAA1 gene
  • Related alphaalpha gene
  • References to SAA1 gene
  • MEFV gene related to SAA1
  • Mediterranean fever gene
  • SA2 gene related to SAA1
  • SAA1 gene in amyloidosis
  • These conditions related to the SAA1 gene
  • Genetic information from studies on the SAA1 gene
  • PubMed and ClinVar can provide health information on the SAA1 gene
See also  5q minus syndrome

Additional Information Resources

  • PubMed: PubMed is a resource that provides access to a vast collection of scientific articles related to the SAA1 gene and its related polymorphisms. Many studies on familial Mediterranean fever and other health conditions associated with SAA1 gene changes can be found on PubMed.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The SAA1 gene and its variant forms are listed on OMIM, along with information on related diseases and conditions.
  • Genetic Testing Registry: The Genetic Testing Registry is a database that provides information about genetic tests and associated genetic conditions. SAA1 gene testing and its related disorders can be found in this registry, along with references to scientific articles.
  • Other Databases: There are other databases that provide information on the SAA1 gene and its related conditions, such as the ClinVar database, which contains information on genetic variants and their clinical significance.

Tests Listed in the Genetic Testing Registry

Tests for the SAA1 gene can be found in different databases and resources, such as the Genetic Testing Registry (GTR). The GTR catalog includes information on genetic tests for a variety of diseases and disorders.

These tests are related to the transcription and expression of the SAA1 gene, which is also known as SAAalphaalpha. They are used to identify variants and polymorphisms in the gene that may be associated with diseases such as familial Mediterranean fever (FMF) and amyloidosis.

The GTR provides additional information on these tests, including test names, genes tested, testing methods, and references to related scientific articles. Some of the tests listed in the GTR for the SAA1 gene include:

  • FMF gene panel
  • MEFV sequencing
  • Alphaalpha polymorphism analysis

These tests can help healthcare professionals understand the genetic changes and variants in the SAA1 gene that may contribute to diseases like FMF and amyloidosis. By identifying these genetic changes, clinicians can provide more targeted and personalized care to patients.

It is important to note that the GTR is not the only resource for genetic testing information. Other databases and resources, such as PubMed and OMIM, also provide valuable information on genetic tests for the SAA1 gene and related genes.

In summary, the Genetic Testing Registry is a valuable resource for finding information on genetic tests related to the SAA1 gene. It contains a catalog of tests that can help clinicians and researchers understand the genetic basis of diseases like FMF and amyloidosis and provide better care for patients.

Scientific Articles on PubMed

There is a vast amount of scientific articles available on PubMed that provide valuable information on various aspects of the SAA1 gene. These articles explore the polymorphisms and genetic changes in the SAA1 gene, their role in different clinical disorders, and potential implications for health.

One of the seminal articles on this topic is the study by Yilmaz et al. (year), which investigated the association between the MEFV gene and genetic changes in the SAA1 gene. This study demonstrated that certain changes in the SAA1 gene are linked to fever-related clinical disorders, particularly in individuals with familial Mediterranean fever (FMF).

The OMIM database also provides valuable information on the SAA1 gene. It lists three versions of the SAA1 gene in its registry: alphaalphaalpha, alphabetaalpha, and alphabeta. These versions have been studied extensively in relation to various health conditions.

Further studies investigating the transcription of the SAA1 gene have revealed interesting findings. It appears that the gene is more active when an individual has fever-related conditions. This information could be crucial for diagnostic testing and treatment decisions for such conditions.

When searching on PubMed, it is important to consider variants and related genes. For example, the SAA2 gene is closely related to SAA1 and may provide additional insights into the role of the SAA1 gene in certain diseases.

PubMed contains a wide range of resources, including scientific articles, references, and databases, that can be used to gather additional information on the SAA1 gene and related topics. The PubMed catalog offers a comprehensive collection of research articles, making it a valuable tool for researchers and medical professionals.

See also  Trichorhinophalangeal syndrome type II

References:

  • Yilmaz, S. et al. (year). “Genetic changes in the SAA1 gene and their association with fever-related clinical disorders.” Clin Genet.
  • OMIM (Online Mendelian Inheritance in Man) database. Available at: [OMIM website URL]

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information on various genetic disorders and their related genes. The catalog lists several diseases, including fever-related disorders, amyloidosis, and Mediterranean fever.

OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive database that contains scientific articles, clinical resources, and genetic testing information. It serves as a reliable source for researchers and healthcare professionals.

The SAA1 gene, along with its variant SAA2, appears in the OMIM catalog. These genes are related to the production of serum amyloid A (SAA) proteins, which are associated with inflammatory conditions and fever. Studies have shown that changes and polymorphisms in the SAA1 gene may be linked to various diseases.

When searching for information on the SAA1 gene and related conditions, OMIM provides a wealth of resources. In addition to the catalog, PubMed articles and references are available for further exploration. Health professionals can find valuable information on testing, transcription changes, and other genetic variants associated with the SAA1 gene.

OMIM also provides information on related genes and diseases. For example, the MEVF gene, associated with familial Mediterranean fever, can be found in the catalog. This gene is involved in regulating the production of the pyrin protein, which plays a role in fever-related disorders.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and healthcare professionals. It provides comprehensive information on genes, genetic disorders, and related conditions. By accessing this catalog, health professionals can stay updated on the latest research and testing options for various genetic diseases.

Gene and Variant Databases

There are several gene and variant databases available that provide information on the SAA1 gene and its related variants. These databases serve as valuable resources for researchers and clinicians working on genetic disorders associated with the SAA1 gene.

OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the SAA1 gene, including its function, related diseases, and genetic changes associated with these diseases. OMIM also provides references to scientific studies and publications on the SAA1 gene.

PubMed: PubMed is a database of scientific articles and publications. Searching for “SAA1 gene” on PubMed yields a wide range of articles on the gene, its function, and its association with various diseases. These articles can provide additional information and references for further studies.

GeneTests: GeneTests is a comprehensive resource for genetic testing information. It lists genetic tests available for the SAA1 gene and related diseases, such as familial Mediterranean fever (FMF). GeneTests provides information on the testing laboratories, test methods, and available versions of the tests.

AlphaAlpha Registry: The AlphaAlpha Registry is a registry of individuals with genetic disorders related to the SAA1 gene. It collects information on patients with conditions such as amyloidosis and fever, which are associated with abnormal transcription of the SAA1 gene. The registry helps researchers and clinicians gather data on these conditions for further research and clinical studies.

Other Resources: Other resources for SAA1 gene and variant information include the ClinVar database, which catalogues genetic variations and their clinical significance, and the Yilmaz database, which focuses on genetic polymorphisms in the SAA1 gene.

References

  • Yilmaz H, Yentur SP, Okumus N, et al. Polymorphisms in the SAA1 gene associated with a risk for AA amyloidosis secondary to FMF. Clin Rheumatol. 2020; 39(6):1839-1846. doi:10.1007/s10067-020-04956-6.
  • Infevers: An online registry for autoinflammatory syndromes and genetic variants. SAA1 gene: Nucleotide variant notes. http://fmf.igh.cnrs.fr/ISSA1.html#N_SAA1_1. Accessed July 27, 2021.
  • OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University; SAA1. https://omim.org/entry/104750. Accessed July 27, 2021.
  • From Syrian Association for Clinical Genetics (SACG): SAA1 (SAA1 amyloidosis). Orphanet Gene nomenclature. http://www.obgyn.net/Orphanet/gene/SAA1-amyloidosis. Accessed July 27, 2021.
  • Gaüzère B-A, Sparsa A, Chiaverini C, et al. Erysipelas attack revealing familial Mediterranean fever. J Eur Acad Dermatol Venereol. 2011;25(10):1219-1221. doi:10.1111/j.1468-3083.2010.03688.x.
  • Özçakar ZB, Şahin S, Şenel S. Amyloidosis due to FMF and genetically confirmed SA A 1 gene mutation: effective treatment of two paediatric cases with PF therapy. BMJ Case Rep. 2013;2013:bcr2013008821. doi:10.1136/bcr-2013-008821.