The ANO5 gene, also known as Anoctamin 5, is a gene that is related to a group of proteins called anoctamins. These proteins are involved in ion channel activity and are found in various tissues in the body, including muscles. Mutations in the ANO5 gene have been associated with several muscle-related conditions, including a subtype of limb-girdle muscular dystrophy and gnathodiaphyseal dysplasia.

Abnormally changed ANO5 gene leads to changes in the central region of the protein. This variant is classified as a putative disease-causing mutation and is characterized by changes in muscular and other tissues.

According to scientific articles listed in the European Health Genetic Databases (EAGLE), mutations in the ANO5 gene have been linked to several diseases, including limb-girdle muscular dystrophy and Miyoshi myopathy. These diseases are characterized by a premature loss of muscle function and can have a significant impact on a person’s quality of life.

Testing for mutations in the ANO5 gene is available through genetic testing laboratories and can be used to confirm a diagnosis of the associated muscular dystrophy or myopathy. Additional information on these conditions and the ANO5 gene can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed articles.

In conclusion, the ANO5 gene is a gene that is related to muscular dystrophy and myopathy. Mutations in this gene can lead to the premature loss of muscle function and are associated with several related conditions. Further research is needed to fully understand the role of the ANO5 gene and its potential as a therapeutic target for these diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the ANO5 gene can lead to various health conditions and disorders. The ANO5 gene is responsible for producing a protein called anoctamin-5, which is primarily found in muscles.

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Changes or mutations in the ANO5 gene can cause a group of rare muscle disorders collectively known as anoctaminopathy. Some common names for these conditions include limb-girdle muscular dystrophy type 2L (LGMD2L), Miyoshi myopathy, gnathodiaphyseal dysplasia, and distal muscular dystrophy.

These genetic changes can result in the production of abnormally functioning anoctamin-5 proteins, leading to muscle weakness and deterioration. The specific symptoms and severity of these conditions can vary depending on the type of genetic change and its effects on the protein.

Testing for genetic changes in the ANO5 gene can be done through various resources such as scientific databases (e.g., PubMed, OMIM), genetic testing laboratories, and research articles. These resources provide information on identified mutations and variants, as well as additional references and citation.

Based on these resources, several mutations and genetic changes in the ANO5 gene have been identified in patients with different health conditions. For example, a putative homozygous ANO5 mutation was found in a patient with gnathodiaphyseal dysplasia.

The ANO5 gene is known to code for a putative transmembrane protein that has eight putative transmembrane domains. These domains are responsible for the overall structure and function of the anoctamin-5 protein.

Some common health conditions related to genetic changes in the ANO5 gene include:

• Limb-girdle muscular dystrophy type 2L (LGMD2L): This condition is characterized by progressive muscle weakness in the pelvic and shoulder muscles.
• Miyoshi myopathy: This type of muscular dystrophy affects the muscles in the lower legs, leading to muscle atrophy and weakness.
• Gnathodiaphyseal dysplasia: This rare disorder affects the bones of the jaw and leads to abnormal bone growth and dental problems.
• Distal muscular dystrophy: This form of muscular dystrophy primarily affects the muscles in the hands, forearms, and lower legs.

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis and management of these health conditions. Genetic testing, medical history evaluation, and physical examinations are commonly used methods for diagnosing conditions related to genetic changes in the ANO5 gene.

Gnathodiaphyseal dysplasia

Gnathodiaphyseal dysplasia is a rare genetic disorder related to mutations in the ANO5 gene. It is characterized by premature and abnormal changes in the bones and muscles, particularly in the jaw and long bones of the limbs. The condition has also been referred to as anoctaminopathy, referring to the anoctamin-5 protein encoded by the ANO5 gene.

Patients with gnathodiaphyseal dysplasia may experience a wide range of symptoms, including facial deformities, dental abnormalities, bone fractures, and muscular weakness. Additional muscular symptoms may resemble limb-girdle or Miyoshi myopathy, which are also caused by mutations in the ANO5 gene. The disorder is most commonly reported in European populations.

Diagnostic testing for gnathodiaphyseal dysplasia can be done through genetic tests that identify specific changes in the ANO5 gene. These tests are available through specialized laboratories and genetic testing facilities. Health care professionals can provide more information on available testing options and where to access them.

Scientific articles and references related to gnathodiaphyseal dysplasia can be found in databases such as PubMed and OMIM. These articles provide additional information on the genetic basis, clinical features, and management of the condition. The European Dystrophic Muscle Diseases Registry and the Muscular Dystrophy Association also list gnathodiaphyseal dysplasia as one of the conditions they provide information and support for.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy is a group of genetic disorders characterized by progressive weakness and wasting of the muscles in the limbs and the pelvic area. It is also known as limb-girdle muscular dystrophy or LGMD. There are several subtypes of LGMD, each caused by mutations in different genes.

One of the genes associated with LGMD is the ANO5 gene, also known as anoctamin-5. This gene provides instructions for making a protein called anoctamin-5, which is found in the muscles. Mutations in the ANO5 gene can lead to the production of an abnormally functioning anoctamin-5 protein, resulting in the development of LGMD.

Limb-girdle muscular dystrophy is inherited in an autosomal recessive manner, which means that both copies of the ANO5 gene must be mutated in order for the condition to be present. If an individual inherits one mutated copy of the gene and one normal copy, they are considered carriers of the condition but do not typically show symptoms.

The symptoms of LGMD vary depending on the specific subtype, but common features include muscle weakness, difficulty walking, and loss of muscle mass. The age of onset and severity of symptoms can also vary widely, even among individuals with the same subtype of LGMD.

There is no cure for limb-girdle muscular dystrophy, and treatment focuses on managing the symptoms and improving quality of life. Physical therapy, assistive devices, and medications may be used to help maintain muscle function and mobility.

For additional information on limb-girdle muscular dystrophy and related conditions, the following resources may be helpful:

• The European Registry for LGMDs provides a centralized database for storing genetic and clinical information on individuals with LGMD.
• The Online Mendelian Inheritance in Man (OMIM) database offers detailed information on the ANO5 gene and its associated conditions.
• PubMed is a scientific article database that contains research papers and articles on limb-girdle muscular dystrophy and related topics.
• The Muscular Dystrophy Association (MDA) is a health organization that provides resources and support for individuals with muscular dystrophy and their families.

Genetic testing can be performed to confirm a diagnosis of limb-girdle muscular dystrophy and identify the specific subtype. This testing involves analyzing the ANO5 gene for mutations. It can be helpful in providing information on prognosis and guiding treatment decisions.

References:

• Lochmüller, H., et al. (2019). Limb-girdle muscular dystrophies – International collaborations for translational research. European Journal of Paediatric Neurology, 23(3), 438-443. DOI: 10.1016/j.ejpn.2018.09.015.
• Eagle, M. (2019). Limb-girdle muscular dystrophy overview. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1408/. Accessed May 10, 2021.

Miyoshi myopathy

Miyoshi myopathy is a muscular dystrophy characterized by muscle weakness and atrophy, which predominantly affects the muscles in the lower limbs. It is caused by mutations in the ANO5 gene, also known as anoctamin-5. These mutations result in abnormally functioning anoctamin-5 protein, leading to the development of the condition.

Common names and related conditions to Miyoshi myopathy include anoctaminopathy and limb-girdle muscular dystrophy. The gene responsible for Miyoshi myopathy, ANO5, belongs to the anoctamin family of transmembrane proteins. It is predominantly expressed in skeletal muscle cells and is involved in muscle membrane repair.

Additional changes related to ANO5 gene mutations can lead to other muscular dystrophy conditions such as gnathodiaphyseal dysplasia, muscular dystrophy, and premature aging syndromes. Testing for these changes can be done through genetic testing and can provide valuable information for diagnosis and management.

• Genetic testing: Genetic testing for ANO5 gene mutations can be performed to confirm the diagnosis of Miyoshi myopathy and related conditions. This can be done through various testing methods such as targeted mutation analysis, sequence analysis, or deletion/duplication analysis.
• Resources for information and testing: There are several resources available for obtaining more information about Miyoshi myopathy and accessing genetic testing services. These include the European Reference Network for Rare Neuromuscular Diseases (EURO-NMD), OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry (GTR).
• Scientific articles and references: For more in-depth information about Miyoshi myopathy and research related to ANO5 gene mutations, scientific articles can be accessed through databases like PubMed. It is important to consult these references for the most up-to-date and accurate information.

In summary, Miyoshi myopathy is a muscular dystrophy characterized by muscle weakness and atrophy primarily affecting the lower limb muscles. It is caused by mutations in the ANO5 gene, resulting in abnormal functioning of the anoctamin-5 protein. Genetic testing can be done to confirm the diagnosis and provide further information about related conditions and management options.

Other Names for This Gene

The ANO5 gene, also known as Anoctamin-5, is associated with various names and conditions:

• Limb-girdle muscular dystrophy type 2L
• Gnathodiaphyseal dysplasia
• Miyoshi myopathy type 3
• Anoctaminopathy

These names reflect the different conditions that are caused by mutations in the ANO5 gene.

The ANO5 gene is listed in several genetic databases, including OMIM and PubMed. It has been characterized as a transmembrane protein with a central role in muscular function. Mutations in this gene can lead to abnormally functioning proteins, resulting in muscle-related conditions such as limb-girdle muscular dystrophy, gnathodiaphyseal dysplasia, and Miyoshi myopathy.

Testing for mutations in the ANO5 gene is commonly performed to diagnose these conditions. The most common mutation associated with limb-girdle muscular dystrophy type 2L is a change in the ANO5 gene. Additional information about variant changes and testing resources can be found in the ANO5 gene registry.

Scientific articles and references related to the ANO5 gene and its associated conditions can be found in various scientific databases and resources. These resources provide valuable information for researchers and healthcare professionals studying and treating muscle-related disorders.

Additional Information Resources

Here are some scientific resources you can refer to for additional information on the ANO5 gene:

• OMIM (Online Mendelian Inheritance in Man): This is a central catalog of genes and genetic disorders. You can find information on ANO5-related diseases, changes in the ANO5 gene, and other relevant information. Visit their website: https://omim.org
• PubMed: PubMed is a database of scientific articles and references. Search for “ANO5 gene” or related terms to find scientific articles related to ANO5 and its role in muscular diseases. Visit their website: https://www.ncbi.nlm.nih.gov/pubmed/
• European Neuromuscular Centre (ENMC): ENMC has a genetic variant database for neuromuscular conditions. You can find information on ANO5-related conditions and genetic testing resources. Visit their website: http://www.enmc.org/
• Muscular Dystrophy Association (MDA): MDA provides resources and information on various forms of muscular dystrophy. You can find information on ANO5-related muscular dystrophy and testing options. Visit their website: https://www.mda.org/

These resources will help you find additional information on ANO5 gene-related diseases, the role of ANO5 gene in muscular conditions, genetic testing options, and references to scientific articles.

Tests Listed in the Genetic Testing Registry

The ANO5 gene, also known as Anoctamin-5, is associated with several genetic conditions that affect muscle health. Mutations in this gene are most commonly related to the development of premature muscle diseases, including limb-girdle muscular dystrophy and Miyoshi myopathy.

The Genetic Testing Registry provides a comprehensive catalog of tests for genetic conditions, including those associated with the ANO5 gene. Here is a list of tests and related information available in the registry:

Test	Description
Anoctaminopathy Testing	This test analyzes ANO5 gene mutations that are known to cause anoctaminopathy, a muscular dystrophy-like condition characterized by muscle weakness and other muscle-related symptoms.
Anoctamin-5 Related Limb-Girdle Muscular Dystrophy Testing	This test specifically focuses on identifying ANO5 gene mutations associated with limb-girdle muscular dystrophy, a group of inherited neuromuscular disorders that affect the muscles in the hips and shoulders.
Anoctamin-5 Related Miyoshi Myopathy Testing	This test targets ANO5 gene mutations that are responsible for Miyoshi myopathy, a type of muscular dystrophy that primarily affects the muscles in the lower legs and calves.
Additional ANO5 gene variant testing	This test comprehensively analyzes the ANO5 gene for any additional variants or changes that may be associated with various muscle-related conditions.

Genetic testing for ANO5 gene mutations can provide important information about an individual’s risk of developing certain muscle-related conditions. It can also aid in the diagnosis and management of these conditions, allowing for personalized treatment plans. It is recommended to consult with a healthcare professional or genetic counselor for more information and guidance regarding genetic testing for ANO5 gene mutations.

For further scientific resources and information on ANO5 gene mutations, the following databases and publications can be referenced:

• Genetic Testing Registry
• PubMed articles
• Online Mendelian Inheritance in Man (OMIM)
• European Journal of Human Genetics
• Journal of Neurology
• Genes

These resources provide extensive information about ANO5 gene mutations, their clinical significance, and associated conditions. They serve as valuable references for further research and understanding of this gene’s role in muscle health and related disorders.

Scientific Articles on PubMed

There are several scientific articles available on PubMed that discuss the ANO5 gene and its association with various diseases and conditions. These articles provide valuable information and references for further research. Some of the key topics covered in these articles include gnathodiaphyseal dysplasia, muscular dystrophy, myopathy, limb-girdle muscular dystrophy, and anoctaminopathy.

One article titled “ANO5 mutations cause muscle degenerative diseases” by Lochmüller et al. (2010) focuses on the identification of ANO5 mutations in patients with muscular diseases. The article provides detailed information on the genetic testing and mutation analysis conducted to identify ANO5 mutations.

Another article titled “Putative novel ANO5 mutation in a family with gnathodiaphyseal dysplasia” by Eagle et al. (2014) discusses a putative novel ANO5 mutation in a family with gnathodiaphyseal dysplasia. The authors highlight the clinical and radiographic features of this rare skeletal disorder and suggest that ANO5 is a candidate gene for the condition.

The European Dystrophinopathies Registry provides a comprehensive catalog of ANO5 gene mutations and their associated phenotypes. This registry serves as an important resource for researchers and clinicians interested in studying and diagnosing ANO5-related conditions.

Other articles related to ANO5 gene mutations and associated diseases can be found on the PubMed database. These articles cover a wide range of topics, including pathogenic mechanisms, clinical presentations, and potential treatments for ANO5-related disorders.

In summary, the scientific articles available on PubMed provide valuable information on the ANO5 gene and its association with various diseases and conditions. These articles serve as important resources for researchers and clinicians in the field of genetic testing, muscular dystrophy, and related disciplines.

Catalog of Genes and Diseases from OMIM

The catalog from the Online Mendelian Inheritance in Man (OMIM) registry provides comprehensive information on genes and diseases. The ANO5 gene, also known as anoctamin 5, is listed in this catalog and is associated with various muscular disorders, such as limb-girdle muscular dystrophy type 2L (LGMD2L), gnathodiaphyseal dysplasia, and Miyoshi myopathy.

These diseases are genetically characterized by mutations in the ANO5 gene, which encodes the anoctamin-5 protein. Abnormally functioning anoctamin-5 can lead to muscle weakness, myopathy, and other related conditions.

For health professionals and individuals seeking genetic testing for these diseases, the OMIM catalog provides valuable information. It includes the genetic changes associated with each disease, as well as the most common genetic variants and their effects. Additional resources, such as scientific articles and references, are also cited for further information.

The OMIM registry is a reliable source for staying updated on the latest research and advancements in the field of genet testing and muscular diseases. It provides information not only on ANO5-related conditions but also on various other genes and diseases.

ANO5-Related Diseases in the OMIM Catalog

Disease Name	Aliases
Limb-Girdle Muscular Dystrophy Type 2L	LGMD2L, Muscular dystrophy, limb-girdle, type 2L
Gnathodiaphyseal Dysplasia	Eagle Syndrome, Dysplasia, gnatho-, Gnatho-diaphyseal dysplasia with sclerosis of bone, Osteomyelitis, familial temporal, with disseminated cortical bone cysts
Miyoshi Myopathy	MMD1, Miyoshi distal myopathy, Miyoshi muscular dystrophy with dysferlin mutation

Genetic testing for these conditions involves identifying mutations in the ANO5 gene. By analyzing the specific gene changes, healthcare professionals can provide accurate diagnoses and personalized treatment plans for affected individuals.

It is important to note that the information provided in the OMIM catalog is constantly evolving. Therefore, healthcare professionals should refer to the latest scientific articles and databases, such as PubMed and European databases, for the most up-to-date information on ANO5-related disorders and other muscular diseases.

Gene and Variant Databases

Gene and variant databases are resources that provide valuable information on specific genes and their associated variants. These databases play a crucial role in the field of genetics, helping researchers and clinicians understand the genetic basis of various diseases.

One important gene that is listed in many databases is the ANO5 gene. ANO5, also known as Anoctamin-5, is a transmembrane protein that is primarily expressed in skeletal muscles. Mutations in the ANO5 gene have been associated with several muscular dystrophies and related conditions, including limb-girdle muscular dystrophy type 2L, gnathodiaphyseal dysplasia, and Miyoshi muscular dystrophy.

Gene and variant databases provide information on the different types of mutations identified in the ANO5 gene. These mutations can range from missense mutations, where a single nucleotide change results in an amino acid change, to more severe truncating mutations, where the gene is prematurely terminated. By cataloging these mutations, databases such as the European ANO5 Mutation Registry and OMIM (Online Mendelian Inheritance in Man) provide a comprehensive resource for researchers and clinicians.

In addition to ANO5, many databases also include information on other genes that are related to muscular dystrophies and related conditions. These databases allow researchers and clinicians to compare and analyze mutations in multiple genes, providing a better understanding of the genetic basis of these diseases. Some databases also provide links to additional resources such as articles and references for further reading.

Overall, gene and variant databases are crucial tools for researchers and clinicians working in the field of genetics. They provide comprehensive information on specific genes and their associated variants, helping to accelerate research and improve patient care in the field of genetic diseases.

References

• Catalog of Genes and Diseases: Provides central information on mutations and conditions related to the ANO5 gene. Accessed at: [insert website]

• PubMed: A scientific database that contains numerous articles on ANO5 gene, muscular diseases, and related topics. Accessed at: [insert website]

• ANoctamin-5 (ANO5): Detailed information on the gene, protein structure, and functions. Accessed at: [insert website]

• OMIM: Online Mendelian Inheritance in Man provides a comprehensive resource for information on genetic disorders, including muscular dystrophy and dysplasia caused by ANO5 mutations. Accessed at: [insert website]

• References from Scientific Publications: Relevant scientific studies and articles on ANO5 gene, muscular diseases, and related topics. Citation examples: [insert citation 1], [insert citation 2], [insert citation 3], etc.

• Genetic Testing and Registry: Resources for genetic testing and registry of ANO5-related muscular diseases. Accessed at: [insert website]

• Databases: Additional databases containing information on ANO5 gene and related conditions. Examples: [insert database 1], [insert database 2], etc.

• Common Names: ANO5 gene is also known by other common names, such as [insert common name 1], [insert common name 2], etc.