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The POMT1 gene is an early health gene that is listed in various databases such as OMIM. It is involved in the testing and diagnosis of various disorders that result from a damaged POMT1 gene. These disorders often present with muscle weakness and are usually called ‘POMT1-related syndromes’ or ‘Pomt1-related genetic disorders’.

When there is a mutation in the POMT1 gene, it can lead to changes in the α-dystroglycan proteins, which are important in muscular conditions. The POMT1 gene is also related to other limb-girdle muscular dystrophy and related dystrophy conditions. The gene mutation and its effects on the body have been the subject of numerous scientific articles, and there is a wealth of information available in resources such as PubMed.

Testing for POMT1-related disorders usually involves genetic testing, and there are specialized tests and laboratories that provide these services. The POMT1 Gene Testing Registry is an additional resource for individuals seeking information about testing options and other related resources. Researchers and clinicians can find a catalog of known mutations in the gene, along with past references and articles, in the public scientific databases.

In summary, the POMT1 gene is an important gene in the field of neurology and plays a crucial role in various muscular conditions and related genetic disorders. Understanding the function and variations of this gene is key to improving the diagnosis and treatment of POMT1-related diseases.

Genetic changes in the POMT1 gene can lead to various health conditions. These changes are often identified through registries, databases, and genetic testing. Here are some health conditions related to genetic changes in the POMT1 gene:

  • Walker-Warburg syndrome: This is a rare genetic disorder characterized by early-onset muscular weakness and complex brain abnormalities. Genetic changes in the POMT1 gene are one of the causes of this syndrome.
  • Congenital muscular dystrophy: Genetic changes in the POMT1 gene can cause congenital muscular dystrophy, a group of genetic diseases that lead to muscle weakness and wasting.
  • Limb-girdle muscular dystrophy: Some variants in the POMT1 gene are associated with limb-girdle muscular dystrophy, a type of muscular dystrophy that affects the muscles in the hips and shoulders.

These health conditions are typically diagnosed through genetic testing, which looks for changes in the POMT1 gene. Genetic testing can be performed in specialized laboratories and may require a referral from a healthcare provider.

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To learn more about specific health conditions related to genetic changes in the POMT1 gene, you can refer to scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional information and references for further reading.

It’s important to note that genetic changes in the POMT1 gene are just one of the many causes of these health conditions. There are other genes and genetic changes that can also contribute to the development of these diseases.

Walker-Warburg syndrome

Walker-Warburg syndrome is a genetic disorder that primarily affects the muscles and brain. The syndrome is also known by other names such as “Walker syndrome” and “Lissencephaly with cerebellar hypoplasia.”

Individuals with Walker-Warburg syndrome typically experience muscle weakness and limb-girdle dystrophy. The muscles affected by the syndrome become progressively weaker over time, leading to difficulties with movement and mobility.

On the neurological side, Walker-Warburg syndrome is characterized by early-onset brain abnormalities. The brain may be damaged or underdeveloped, leading to intellectual disabilities, developmental delays, and seizures.

This syndrome is caused by changes in the POMT1 gene, which plays a crucial role in the production of α-dystroglycan. α-dystroglycan is a protein that is essential for the formation of a complex that helps maintain the structural integrity of muscle tissue.

See also  GRACILE syndrome

Further information on Walker-Warburg syndrome can be found in scientific articles and databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and genetic resources. Genetic testing can be conducted to identify specific POMT1-related mutations or variants. To connect with others affected by Walker-Warburg syndrome, there are also patient registries and support groups available.

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Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders characterized by progressive weakness and wasting of the muscles in the limb-girdle area, which includes the hips and shoulders. LGMD is usually caused by mutations in genes related to the dystrophin complex, α-dystroglycan, and other proteins involved in muscle structure and function.

Patients with limb-girdle muscular dystrophy often experience weakness in their proximal muscles, such as those in the shoulders and hips. This can lead to difficulties in walking, climbing stairs, and lifting objects.

Genetic testing is used to diagnose limb-girdle muscular dystrophy. There are several tests available, including DNA sequencing to identify specific genetic changes. Genetic information can also be found in public databases such as OMIM, and scientific articles can be searched on PubMed.

One variant of limb-girdle muscular dystrophy is called the pomt1-related syndrome. This variant is usually related to mutations in the POMT1 gene. The POMT1 gene is involved in the glycosylation of α-dystroglycan, a protein that plays a critical role in maintaining the integrity of muscle fibers. Changes in the POMT1 gene can result in a complex spectrum of muscular dystrophy-related diseases, including Walker-Warburg syndrome.

There are resources available for individuals with limb-girdle muscular dystrophy and other related genetic disorders. The Muscular Dystrophy Association has a registry and provides information on testing, genetic counseling, and other health-related resources. Additionally, there are online databases and catalogs that list genes associated with various forms of muscular dystrophy and related conditions.

It is important for individuals with limb-girdle muscular dystrophy and their families to seek early testing and diagnosis. Identifying the specific genetic mutation can provide important information about the prognosis and potential treatment options for the individual.

In the past, limb-girdle muscular dystrophy and related conditions had different names, but they are now generally referred to collectively as limb-girdle muscular dystrophy. This helps to standardize the terminology and improve communication among healthcare providers and researchers.

Overall, limb-girdle muscular dystrophy is a complex group of genetic disorders that can cause progressive weakness and wasting of the muscles. Genetic testing and additional resources can provide valuable information for individuals and families affected by these conditions.

Other disorders

In addition to muscular dystrophy-dystroglycanopathy, other disorders related to POMT1 gene mutations have been identified in the field of neurology. These conditions can cause early-onset weakness and other health issues. Here are some other disorders associated with mutations in the POMT1 gene:

  • Walker-Warburg syndrome: A complex genetic disorder characterized by various changes in the brain and eyes. The POMT1 gene mutation is one of the genetic causes of this condition. Additional testing usually needs to be done to confirm the diagnosis.
  • Limb-girdle muscular dystrophy: POMT1-related limb-girdle muscular dystrophy is a genetic condition that affects the muscles in the hips and shoulders. Changes in the POMT1 gene can lead to the development of this form of muscular dystrophy.

To learn more about these disorders and related genetic changes, you can refer to scientific articles in the PubMed and OMIM databases. These resources provide extensive information on POMT1-related disorders and other genetic conditions. The α-dystroglycan gene, which is associated with POMT1, can also be explored in the genetic variant and protein databases for more detailed information.

If you are interested in genetic testing for POMT1-related disorders or other neurological conditions, you can consult your healthcare provider or genetic counselor. They can provide you with more information on the available tests, their accuracy, and the resources for genetic testing.

The Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) are excellent resources for finding laboratories that offer genetic testing for POMT1-related disorders. The GTR provides a catalog of genetic tests and related information, while OMIM provides a comprehensive database of genetic disorders and their associated genes.

Testing for POMT1-related disorders and other genetic conditions usually involves multiple steps, including clinical examination, genetic testing, and analysis of the results. It is important to consult with healthcare professionals who specialize in these disorders to ensure accurate diagnosis and appropriate management.

See also  ITGB4 gene

Other Names for This Gene

The POMT1 gene is also known by several other names, including:

  • Walker-Warburg syndrome protein 4
  • Limb-girdle muscular dystrophy type 2K-related protein
  • Ryrogylican-associated protein 5

These alternative names for the POMT1 gene are commonly used in scientific articles, databases, and resources related to genetic disorders and conditions. They are listed in the Online Mendelian Inheritance in Man (OMIM) database and other genetic testing registries as additional information for genetic testing and related research.

The POMT1 gene is associated with a complex of proteins called the dystroglycan complex. Changes or mutations in this gene usually result in muscular weakness in affected individuals. Tests for the POMT1 gene variant are commonly performed in the field of neurology, specifically for early diagnosis of certain muscular dystrophies and related disorders.

For more information on the POMT1 gene and its related conditions and genes, refer to the references and resources listed below:

  1. OMIM Catalog of Human Genes and Genetic Disorders
  2. PubMed – A database of scientific articles
  3. Genetic Testing Registry

Additional Information Resources

Here is a list of additional resources that provide more information on the POMT1 gene and related topics:

  • Online Mendelian Inheritance in Man (OMIM) – This database provides detailed information on genetic disorders and genes. It includes a comprehensive entry on POMT1-related dystroglycanopathy. (Reference: OMIM database entry 607423)
  • National Institutes of Health (NIH) Genetic Testing Registry – This registry lists genetic tests that are available for POMT1-related muscular dystrophy and other genetic conditions.
  • PubMed – PubMed is a widely-used database for scientific articles in the field of neurology and genetics. It contains numerous articles on POMT1-related disorders and the role of α-dystroglycan, a protein affected by POMT1 gene changes.
  • Walker-Warburg Syndrome Database – This database provides information on Walker-Warburg syndrome, a complex congenital muscular dystrophy caused by POMT1 gene variants. It includes resources for patients and healthcare professionals.
  • GeneTests – This comprehensive online catalog of genetic tests offers information on testing laboratories and available genetic tests for POMT1-related conditions. GeneTests is a valuable resource for both patients and healthcare providers.

These resources can be used to further explore the genetic changes and associated clinical features of POMT1-related disorders, as well as to access additional information on the affected genes and related proteins.

Tests Listed in the Genetic Testing Registry

Genetic testing is a valuable tool for identifying changes or mutations in genes that are associated with certain diseases or disorders. One gene that has been extensively studied is the POMT1 gene, which is involved in the production of proteins called α-dystroglycans. Changes or mutations in this gene can lead to a variety of complex conditions, including muscular dystrophy and the Walker-Warburg syndrome.

The Genetic Testing Registry (GTR) is a comprehensive database that provides information on genetic tests and their associated conditions. It serves as a valuable resource for individuals and healthcare professionals looking for genetic testing options.

Tests listed in the GTR related to the POMT1 gene include:

  • POMT1-related dystroglycanopathy
  • Walker-Warburg syndrome, POMT1-related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, POMT1-related
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, POMT1-related

These tests are designed to detect changes or mutations in the POMT1 gene that are associated with the above-mentioned conditions. The results of these tests can provide early diagnosis and help guide the management and treatment of individuals with these disorders.

Additional information and scientific references related to the POMT1 gene and associated conditions can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources offer a wealth of knowledge on the genetic basis, clinical presentation, and management of POMT1-related disorders.

In conclusion, the genetic tests listed in the GTR provide a valuable resource for identifying changes in the POMT1 gene and their association with various diseases and disorders. Early detection of these changes can lead to improved health outcomes and personalized treatment approaches for affected individuals.

Scientific Articles on PubMed

Scientific articles related to the POMT1 gene can be found on PubMed. PubMed is a vast database that indexes past and current scientific research in the field of health and biology. It serves as a valuable resource for locating articles and studies on specific genes and genetic disorders.

Early tests and studies on the POMT1 gene and its variants have been extensively documented in scientific literature. These articles provide a wealth of information on the genetic changes associated with this gene, as well as the related conditions and disorders.

See also  PNP gene

For example, the POMT1 gene has been linked to a condition called Walker-Warburg syndrome, a severe autosomal recessive disorder characterized by muscle weakness and other developmental abnormalities. Numerous articles on PubMed discuss the genetic changes in α-dystroglycan and other related proteins in relation to this syndrome.

Several databases, such as OMIM and the Muscular Dystrophy Association’s registry, list the POMT1 gene as a candidate for testing in individuals with limb-girdle muscular dystrophy and related conditions. These databases provide additional information and resources for further reading on POMT1-related disorders and diseases.

Scientific articles on PubMed provide references to a wide range of topics related to the POMT1 gene, including mutation analysis, neurology, and complex protein-protein interactions. Researchers and healthcare professionals can access these articles to stay up-to-date with the latest advancements in this field of study.

Catalog of Genes and Diseases from OMIM

The Pomt1 gene is related to the Walker-Warburg syndrome, a complex of genetic disorders characterized by early-onset muscular dystrophy and other related conditions.

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases that provides information on genetic disorders. It serves as a comprehensive resource for scientific articles, gene names, clinical descriptions, and genetic testing resources.

The OMIM database contains information about the Pomt1 gene and its related disorders. It provides detailed descriptions of the proteins encoded by the gene and the changes in these proteins that result from genetic mutation. These changes can lead to the development of Walker-Warburg syndrome and other related conditions.

In addition to information on Pomt1-related disorders, the OMIM database also includes information on other genetic diseases and conditions. It provides references to scientific articles and other resources, such as genetic testing services and registries for specific disorders.

OMIM is a valuable tool for researchers, clinicians, and individuals interested in genetic health. It provides up-to-date information on genetic disorders and serves as a central repository for information on genes and associated diseases.

For more information on the Pomt1 gene and related disorders, visit the OMIM database at https://www.omim.org/.

Gene and Variant Databases

When it comes to pomt1-related disorders, such as α-dystroglycan-related muscular dystrophy and Walker-Warburg syndrome, health professionals heavily rely on gene and variant databases for information. These databases serve as valuable resources that provide comprehensive information about genetic variants and related genes.

One important database is the Health Registry and Testing Database, which offers essential information about the POMT1 gene, its variants, and associated disorders. This database is a rich source of information for healthcare professionals, researchers, and individuals seeking to learn more about pomt1-related conditions.

In addition to the Health Registry and Testing Database, there are other renowned scientific databases available. These databases compile information about genetic variants and genes associated with various disorders, including pomt1-related disorders and other muscular dystrophies.

Some widely used databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genetic conditions and genes. It offers scientific references, genetic testing information, and detailed descriptions of various disorders.
  • PubMed: PubMed is a vast database of scientific articles. It contains a wealth of information about genetic variants, diseases, and related research. Health professionals often refer to PubMed for the latest studies and findings in the field of neurology and genetics.
  • GeneTests: GeneTests is a resource that offers information on genetic testing for various disorders. It provides a database of genes and associated disorders, helping healthcare professionals in diagnosis and genetic counseling.

These databases play a crucial role in understanding pomt1-related disorders and other genetic conditions. They facilitate research, enable accurate diagnosis, and contribute to the development of effective treatments.

It is important to note that the field of genetics and genetic databases is constantly evolving. New findings, tests, and changes in genes and variants are regularly updated in these databases. Therefore, healthcare professionals and individuals seeking information should refer to these databases regularly for the most recent and accurate information.

References

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