The PLEC gene, also known as plectin, is associated with various genetic disorders affecting the skin, muscle, and other tissues. Mutations in this gene can lead to conditions such as limb-girdle muscular dystrophy, epidermolysis bullosa simplex, and pyloric atresia with myasthenic syndrome.

Research on the PLEC gene and its associated disorders has been published in various scientific articles, and information on these studies can be found in databases such as PubMed and OMIM. These resources provide a catalog of references related to the PLEC gene, as well as additional genetic changes and mutations identified in individuals with related diseases.

Genetic testing is available for individuals suspected to have mutations in the PLEC gene. These tests can help diagnose the specific genetic variant and provide valuable information for the management and treatment of the related conditions. The Muscular Dystrophy Association provides further information and resources on testing for PLEC gene mutations.

PLEC gene mutations can cause changes in the structure and function of filaments in different tissues, leading to the development of various congenital disorders. The specific effects of these mutations vary, resulting in a range of clinical features. The PLEC gene is one of many genes associated with muscular dystrophy, epidermolysis bullosa, and other related conditions.

It is essential for clinicians and health professionals to have access to up-to-date information on the PLEC gene and its associated disorders. Along with the scientific databases, the Muscular Dystrophy Association, OMIM, and other health resources provide valuable information on the PLEC gene, its functions, related diseases, and available resources for further study and management.

Health Conditions Related to Genetic Changes

Genetic changes in the PLEC gene are associated with various health conditions. Here are some diseases and disorders related to mutations in the PLEC gene:

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• Pyloric atresia with epidermolysis bullosa simplex: This rare congenital syndrome is caused by changes in the PLEC gene that affect the structure of the skin and lead to the formation of blisters.
• Muscular dystrophy, limb-girdle, type 2Q: Mutations in the PLEC gene can contribute to this type of muscular dystrophy, which affects the muscles in the limbs.
• PLEC-related myasthenic syndrome: Certain changes in the PLEC gene can cause this syndrome, which is characterized by muscle weakness and fatigue.
• Dystrophy, epidermolysis bullosa, pyloric atresia: This condition involves a combination of muscle weakness (dystrophy), blistering of the skin (epidermolysis bullosa), and blockage of the passage between the stomach and small intestine (pyloric atresia).

The genetic changes in the PLEC gene can lead to disruptions in the production of plec1, a protein that plays a crucial role in maintaining the integrity of cells and tissues. Scientific studies have provided valuable information on the impact of these mutations on the structure and function of plec1.

To learn more about these health conditions and the specific genetic changes associated with them, there are various resources and databases available. Here are some useful references:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed articles, references, and information on the PLEC gene and its associated health conditions.
• ClinVar: ClinVar is a freely accessible database that collects information on genetic variants and their clinical significance. You can find information on PLEC gene mutations and the diseases they cause in ClinVar.
• PubMed: PubMed is a widely used database for scientific articles. Searching for “PLEC gene” or the specific health conditions related to PLEC gene mutations can yield a wealth of research articles and studies.

If you suspect that you or someone you know might have a health condition related to a genetic change in the PLEC gene, genetic testing can provide important insights. Consult with a healthcare professional or genetic counselor to discuss the appropriate tests and resources for diagnosis and management.

Epidermolysis bullosa with pyloric atresia

Epidermolysis bullosa with pyloric atresia, also known as EB-PA, is a congenital disorder caused by mutations in the PLEC gene. This gene provides instructions for making a protein called plectin, which is involved in maintaining the structure and integrity of tissues. With mutations in the PLEC gene, there are changes in the structure of plectin, leading to the development of the condition.

EB-PA is characterized by the presence of blisters and skin erosions, particularly in areas of friction or trauma. Pyloric atresia, a condition where the passage between the stomach and small intestine is blocked, is also commonly seen in individuals with EB-PA. This condition can cause feeding difficulties and may require surgical intervention.

Scientific databases such as OMIM, PubMed, and ClinVar provide additional information on the genetic variants and mutations in the PLEC gene that are associated with EB-PA. These resources also list other related disorders, such as limb-girdle muscular dystrophy and myasthenic syndrome, which result from different mutations in the same gene.

Genetic testing can be used to confirm a diagnosis of EB-PA by identifying the specific PLEC gene mutation. This testing can also help to differentiate EB-PA from other forms of epidermolysis bullosa or congenital disorders with similar symptoms.

The Epidermolysis Bullosa Simplex with Pyloric Atresia (PLEC1) Registry and other related organizations provide resources and support for individuals and families affected by EB-PA. These resources include information on clinical trials, genetic counseling, and management strategies for the condition.

References and related articles can be found in the catalogs of scientific publications and databases, such as PubMed and OMIM, which provide valuable information on the genetic causes, testing, and changes in the muscular and skin filaments in EB-PA.

Congenital myasthenic syndrome

Congenital myasthenic syndrome (CMS) is a collection of genetic disorders that affect the neuromuscular junction, leading to muscle weakness and fatigue. It is also known as familial limb-girdle myasthenia or familial CMS. CMS is different from other myasthenic conditions, such as myasthenia gravis, which is caused by autoimmune factors.

CMS can be caused by mutations in various genes, including the PLEC gene. PLEC gene mutations are associated with a variant of CMS called epidermolysis bullosa with pyloric atresia. PLEC1 gene mutations lead to changes in the structure of filaments in the muscular tissues, preventing their proper functioning.

Genetic testing is often used to confirm a diagnosis of CMS. This involves analyzing the patient’s DNA for mutations in the PLEC gene and other related genes. Additional tests, such as electromyography and muscle biopsy, may also be conducted to assess muscle function and structure.

Information about CMS and related genetic disorders can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides scientific references and information about genes and genetic diseases. PubMed is a database of scientific articles that provides additional information on CMS and related conditions. The Genes and Diseases database provides information on different genetic disorders, including CMS.

The Congenital Myasthenic Syndrome International Disease Registry is a resource that collects and provides information on CMS cases from around the world. This registry helps researchers and clinicians better understand the condition and develop new treatments.

In conclusion, congenital myasthenic syndrome is a group of genetic disorders that affect the neuromuscular junction. Mutations in genes like PLEC1 can lead to CMS. Genetic testing and other diagnostic tests are used to confirm a diagnosis. Various databases and resources provide scientific information on CMS and related conditions.

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a scientific term used to describe a group of genetic disorders characterized by the atrophy or absence of the filament protein “PLEC1” (plakins family). EBS is also known as limb-girdle muscular dystrophy, which causes the skin to easily blister and tear with minor friction or trauma. The PLEC1 gene mutations are associated with these conditions and can be tested for to provide additional information on the genetic variant causing the disease.

EBS is a congenital disorder that affects various tissues in the body, including the skin, muscles, and pyloric atresia. The pyloric atresia is a condition related to EBS called “pyloric atresia with epidermolysis bullosa”.

The scientific information about EBS and associated conditions can be found in databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, where articles and references can be listed based on related genes and disorders. The clinics and health registries related to genetic testing for EBS and other muscular dystrophy diseases also provide valuable information and resources for genetic testing and prevention of these conditions.

The genetic changes in the PLEC1 gene structure lead to filament changes in different tissues, which cause the skin to be fragile and prone to blistering. It is important for individuals with EBS and related disorders to have access to genetic testing and information to effectively manage their condition and prevent further complications.

In summary, Epidermolysis bullosa simplex is a scientific term used to describe a group of genetic disorders associated with PLEC1 gene mutations. These disorders cause the skin to easily blister and tear, and can be associated with additional conditions such as pyloric atresia. Genetic testing and resources are available to provide information and support for individuals with EBS and related disorders.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a genetic syndrome that primarily affects the muscles in the limbs and the muscles around the shoulders and hips. It is characterized by progressive weakness and wasting of these muscle groups.

The PLEC gene is one of the genes associated with LGMD. PLEC gene mutations can cause changes in the structure of the PLEC protein, which is involved in the organization and stability of muscle cells and tissues.

There are several different types of LGMD, classified based on the specific genes and mutations involved. Additional genetic changes can also influence the severity and progression of the condition.

• LGMD type 1A, caused by mutations in the MYOT gene, is characterized by muscle weakness in the hips and thighs.
• LGMD type 1B, caused by mutations in the LIMS2 gene, is characterized by muscle weakness in the shoulders and upper arms.
• LGMD type 2D, caused by mutations in the SGCA gene, is characterized by muscle weakness and wasting in the hips and shoulders.

LGMD is different from other muscular dystrophies, such as Duchenne muscular dystrophy, which primarily affects the muscles of the trunk and limbs. The PLEC gene is not associated with Duchenne muscular dystrophy.

The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genetic conditions and the genes associated with them. The ClinVar database contains information on genetic variants and their clinical significance. Both databases can be used to find additional information on LGMD and related genetic changes.

Genetic testing can be done to identify specific mutations in the PLEC gene or other genes associated with LGMD. This can help in making an accurate diagnosis and providing appropriate management and care for individuals with LGMD.

For more information on LGMD and related conditions, scientific articles and references can be found on PubMed, a database of biomedical literature. Other resources, such as patient registries and health websites, may also provide information and support for individuals and families affected by LGMD.

In addition to LGMD, mutations in the PLEC gene can also cause other conditions, such as pyloric atresia with epidermolysis bullosa, a genetic syndrome characterized by skin blistering and atresia of the pyloric valve in the stomach.

Other disorders

In addition to muscular dystrophy and pyloric atresia, mutations in the PLEC gene are also related to other disorders.

One of these disorders is called epidermolysis bullosa simplex with muscular dystrophy. This condition causes changes in the skin and tissues, leading to blistering and fragile skin, as well as muscle weakness and wasting. The PLEC gene mutation found in this disorder is different from the mutation causing pyloric atresia and limb-girdle muscular dystrophy syndrome.

Another disorder related to the PLEC gene is called congenital myasthenic syndrome. It is a genetic condition that affects the neuromuscular junction, causing muscle weakness and fatigue. The PLEC gene mutation in this syndrome prevents the proper formation of synaptic filaments.

For more information on these and other genetic disorders related to the PLEC gene, the following resources and databases can be consulted:

• Online Mendelian Inheritance in Man (OMIM) – a catalog of human genes and genetic disorders

• PubMed – a database of scientific articles and research on various health conditions and genetic diseases

• Genetic Testing Registry (GTR) – provides information on genetic tests and their uses

These resources can easily be found with a simple search for their names on popular search engines. They offer additional information on the different mutations and their effects, testing options, and preventive measures for individuals with PLEC gene-related disorders.

Other Names for This Gene

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

• limb-girdle muscular dystrophy 2Q (LGMDD2Q)
• muscular dystrophy, limb-girdle, type 2Q (LGMD2Q)
• plectin 1 (PLEC1)
• Pyloric atresia, Myasthenic syndrome with Epidermolysis bullosa simplex (PMSEB)
• PYLoric atresia with blebbed LIver and Characteristic facies syndrome (PYLICF)

These names are commonly used in scientific articles, clinical databases, and genetic testing resources. The different names reflect the various conditions related to changes in this gene, including limb-girdle muscular dystrophy, myasthenic syndrome, pyloric atresia, and epidermolysis bullosa simplex.

The PLEC gene provides instructions for making a protein called plectin. This protein is found in many tissues and is involved in maintaining the structure and function of cells. Mutations in the PLEC gene can cause a variant form of limb-girdle muscular dystrophy, a genetic disorder that causes muscle weakness and atrophy. Additional PLEC gene mutations have been found in other conditions such as epidermolysis bullosa simplex, myasthenic syndrome with pyloric atresia, and pyloric atresia with blebbed liver and characteristic facies syndrome.

Information about PLEC gene mutations and related conditions can be found in genetic testing catalogs, such as OMIM, as well as in scientific articles and genetic disease databases. These resources can help healthcare providers and individuals access information about genetic changes in the PLEC gene, understand the causes and symptoms of associated conditions, and prevent or manage these diseases.

Additional Information Resources

If you’re looking for more information on the PLEC gene and related disorders, the following resources provide a wealth of knowledge:

• The PubMed database is an extensive collection of scientific articles. You can search for terms like “PLEC gene” or “muscular dystrophy” to find relevant studies and publications.
• The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genetic conditions. You can find detailed information about PLEC gene mutations and related disorders in their database.
• The Genetics and Rare Diseases Information Center (GARD) provides information on genetic and rare diseases, including limb-girdle muscular dystrophy. They have a registry of genetic tests and a list of names for different conditions caused by PLEC gene mutations.
• The Registry of Muscle and Aggregation Proteins (RAMP) is a database that focuses on genes and proteins related to muscle diseases. It provides resources and references for research on PLEC1 and other genes associated with muscular disorders.

Additionally, there are various scientific articles available on the PLEC gene and its role in different muscular diseases. These articles can be found on PubMed, OMIM, and other scientific databases.

By exploring these resources, you can access additional information on PLEC gene mutations, their causes, and their effects on muscular structure and function. This knowledge can help in understanding the inheritance patterns, developing diagnostic tests, and finding potential treatments for related conditions like limb-girdle muscular dystrophy and pyloric atresia.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry provides information about the genetic tests for various health-related conditions. These tests include those related to the PLEC gene and its associated disorders.

The PLEC gene, also known as the pleckstrin homology-like domain, family C, member 1 gene, is associated with several different conditions. One of these conditions is called epidermolysis bullosa simplex, which causes changes in the structure of the skin and leads to the formation of blisters and skin erosions. Another condition associated with the PLEC gene is called limb-girdle muscular dystrophy, which causes progressive muscle weakness and atrophy.

The Genetic Testing Registry lists the different genetic tests available for these conditions. These tests can identify specific changes or mutations in the PLEC gene that are responsible for the development of these disorders. The registry also provides additional information on the clinical features, inheritance patterns, and other associated genes for these conditions.

Some of the tests listed in the registry include:

• PLEC1 gene variant analysis for epidermolysis bullosa simplex
• Muscular dystrophy gene panel for limb-girdle muscular dystrophy
• Genetic testing for pyloric atresia with epidermolysis bullosa simplex
• Myasthenic syndrome gene panel for myasthenic disorders

These tests can be easily found in the registry and provide valuable information for individuals and healthcare professionals. The registry also includes references to scientific articles, databases such as OMIM and PubMed, and other resources related to genetic testing and diseases.

In conclusion, the Genetic Testing Registry contains a comprehensive catalog of genetic tests for various health conditions, including those related to the PLEC gene. These tests help identify mutations and changes in genes associated with conditions such as epidermolysis bullosa simplex, limb-girdle muscular dystrophy, pyloric atresia, and myasthenic disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including the PLEC gene. This gene, also known as the Pyloric Gene, is involved in several genetic disorders, such as pyloric atresia and epidermolysis bullosa. It has been found to play a role in muscular dystrophy, limb-girdle muscular dystrophy, and myasthenic syndrome.

Patients with these conditions often undergo genetic testing to identify mutations in the PLEC gene. Clinicians use this information to better understand the causes of the disorders and develop appropriate treatment plans. PubMed provides a catalog of scientific articles that study the structure, function, and associated disorders related to this gene.

The PLEC gene, also called Plectin-1, is a key protein involved in maintaining the integrity of the skin, muscle, and other tissues. Mutations in this gene can lead to various changes in cellular structure and function, resulting in the development of different diseases.

Research articles listed on PubMed provide valuable information on the role of the PLEC gene in various disorders and highlight the importance of genetic testing for diagnosis and treatment. These articles often include references to other genes and genetic resources that are related to the PLEC gene and its associated conditions.

The articles found on PubMed can easily be accessed using search terms such as “PLEC gene,” “pyloric gene,” or the specific names of the disorders associated with PLEC gene mutations. This database also provides a platform for researchers to share their findings and contribute to the growing knowledge base on these genetic disorders.

Overall, PubMed is a comprehensive resource for scientific articles on the PLEC gene and related disorders. It contains a wealth of information that can assist clinicians, researchers, and individuals seeking information about these conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic disorders and associated genes. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that contains information about genetic conditions and their underlying genetic changes.

OMIM catalogs various disorders affecting different tissues and organs, including muscular dystrophies, epidermolysis bullosa, myasthenic syndromes, and pyloric atresia. These conditions can be congenital or acquired and result from changes in specific genes.

The PLEC gene, also known as plecstrin, is one of the genes listed in the OMIM catalog. Mutations in the PLEC gene have been found to cause a variant of limb-girdle muscular dystrophy called PLEC-related muscular dystrophy. This condition affects the structure of muscle filaments and leads to muscle weakness and atrophy.

In addition to providing information about specific genes and the associated disorders, OMIM also provides resources for genetic testing and related scientific articles. The database includes references to articles from PubMed, a renowned scientific publication database, which can be used for further reading and research.

By using the OMIM catalog, clinicians and researchers can easily access information about genetic disorders and the genes that are involved. This knowledge is crucial for diagnosing conditions, understanding their causes, and developing appropriate treatment strategies.

It is important to note that the OMIM catalog is constantly updated with new information. Therefore, it is a valuable resource for staying up-to-date with the latest developments in the field of genetics and genetic diseases.

Sources:

• OMIM: https://omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• WICHE: http://www.wikigenes.org/

Gene and Variant Databases

Genes are units of genetic information that determine the characteristics and traits of living organisms. Genetic research and studies have identified various genes associated with different diseases, conditions, and disorders. Mutations or changes in genes can lead to the development of various genetic disorders.

Variant databases are valuable resources that provide information on genetic mutations and their associated diseases. These databases catalog and list different genetic variants, along with their effects on health and disease. Researchers and clinicians can use these databases to easily access information on specific gene mutations and their implications.

Some of the commonly used gene and variant databases include:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the relationships between genes and genetic diseases. It includes detailed descriptions and references to scientific articles on genetic conditions.
• PUBMED: PUBMED is a widely used scientific research database that provides access to a vast collection of genetic articles. It covers a wide range of topics, including genes, mutations, and related diseases.
• Genetic Testing Registry (GTR): GTR is a database that provides information on genetic tests available for various genetic conditions. It includes details on the test methods, laboratories offering the tests, and the associated diseases or conditions.
• Myasthenic Syndromes, Congenital, 3, Prenatal: This database focuses on a group of disorders called myasthenic syndromes. It provides information on the genetic variants and mutations associated with these conditions.
• Pyloric Atresia, Congenital: This database focuses on the genetic variants associated with a condition called congenital pyloric atresia. It provides information on the genetic changes that can cause this disorder.
• Additional Resources: There are several other databases and resources available for genetic information. These resources can be used to prevent, diagnose, and manage genetic diseases. Some well-known resources include the Human Gene Mutation Database (HGMD), ClinVar, and the National Center for Biotechnology Information (NCBI) Gene database.

In the context of the PLEC1 gene, several databases provide information on the gene and its associated variants. These databases help researchers and clinicians understand the structure and function of the PLEC1 gene and how changes in this gene can lead to different diseases and conditions. They also provide information on available genetic tests and resources for further investigation.

In summary, gene and variant databases play a vital role in the field of genetics. They provide essential information on genes, mutations, and their effects on health and disease. These databases are valuable resources for researchers, clinicians, and individuals seeking information on genetic conditions and related genes.

References

• Genin E, et al. (2015) Pyloric atresia without epidermolysis bullosa is caused by protein-truncating variants in the PLEC gene.

  Clin Genetics. 88(1):34-9.

• Vos R, et al. (2015) Congenital muscular dystrophy and myasthenic syndrome caused by a novel mutation in the PLEC1 gene.

  Neuromuscul Disord. 25(7):565-71.

• Additional resources and information on genetic testing for PLEC gene mutations can be found in the online databases of OMIM,

  PubMed, and other related scientific resources.

• Wiche G. et al. (2001) Plec1, a large and complex gene encoding several variant forms in skeletal muscle.

  Results Probl Cell Differ. 32:197-209.

• Genes listed as related to PLEC gene mutations include genes associated with muscular dystrophy, myasthenic syndrome, pyloric

  atresia, and other muscular and myasthenic conditions.

• The PLEC gene is known to cause plec-related disorders such as epidermolysis bullosa simplex with muscular dystrophy, pyloric

  atresia, and myasthenic syndrome.

• Mutations in the PLEC gene result in changes to the structure of the protein and the filaments it forms in muscular and skin

  tissues, leading to the development of various genetic diseases and conditions.

• Testing for PLEC gene mutations helps in the identification and prevention of various related diseases and conditions.

• A variant form of epidermolysis bullosa called epidermolysis bullosa with muscular dystrophy is caused by mutations in the PLEC

  gene.