Understanding the Role of SGCD Gene in Human Health

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The SGCD gene is a significant gene involved in several genetic disorders related to muscular and cardiac health. It is one of the many genes that play a role in the limb-girdle muscular dystrophy (LGMD) and dilated cardiomyopathy (DCM).

Sarcoglycanopathies, including LGMD and DCM, are a group of inherited diseases caused by mutations in the SGCD gene. These diseases affect the muscle cells and lead to progressive weakness and loss of muscle mass. The symptoms can range from mild to severe, and they often manifest in childhood or adolescence.

Testing for mutations in the SGCD gene is important for diagnosing and managing these diseases. Molecular genetic tests can identify changes or variants in the gene that are causing the disorders. This information can help healthcare professionals in providing accurate diagnosis, assessing disease progression, and determining appropriate treatments.

Genetic changes in the SGCD gene can lead to various health conditions and disorders. These changes can affect the normal functioning of the gene, leading to the development of diseases and disorders.

Here are some of the health conditions related to genetic changes in the SGCD gene:

Muscular Dystrophy: Genetic changes in the SGCD gene can cause various forms of muscular dystrophy, including limb-girdle muscular dystrophy and sarcoglycanopathies.
Cardiomyopathy: Changes in the SGCD gene can also lead to dilated cardiomyopathy, which affects the heart muscles.

Patients with these genetic changes may experience different symptoms and severity of the conditions. Genetic testing can be done to identify specific mutations in the SGCD gene.

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There are various resources available for more information on these health conditions related to genetic changes. Scientific articles, databases, and genetic testing resources can provide valuable information on the diseases and disorders associated with the SGCD gene.

Some of the resources include:

Scientific articles and publications on PubMed and other online databases.
The Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on different genetic disorders.
The Genetic Testing Registry (GTR), which offers information on genetic tests available for various conditions.
Clinical resources and references on neuromuscular diseases and disorders.

It is important to consult with healthcare professionals and specialists for the accurate diagnosis and management of these health conditions related to genetic changes in the SGCD gene.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy (LGMD) is a group of genetic diseases characterized by muscle weakness and wasting in the muscles of the hip and shoulder areas. LGMD can occur in both children and adults and can be caused by mutations in several different genes.

One of the genes associated with LGMD is the SGCD gene (also known as delta-sarcoglycan gene). Mutations in the SGCD gene can lead to a variant of LGMD called sarcoglycanopathies, which is characterized by the absence or reduced levels of the delta-sarcoglycan protein in muscle cells.

LGMD can also be associated with other genetic diseases, such as dilated cardiomyopathy. The heart muscle is affected in some individuals with LGMD, leading to heart problems. Genetic testing for mutations in the SGCD gene can provide important information about the prognosis and management of LGMD, as well as the risk of associated heart conditions.

References to scientific articles and resources related to LGMD and the SGCD gene can be found in databases such as PubMed, OMIM, and GeneTests. These resources provide additional information on the molecular changes associated with LGMD, as well as testing and diagnostic algorithms for the SGCD gene and other related genes.

Related Genes

There are several other genes that are related to LGMD, including:

SGCA: mutations in this gene can cause LGMD type 2D
SGCB: mutations in this gene can cause LGMD type 2E
SGCG: mutations in this gene can cause LGMD type 2C
SGCE: mutations in this gene can cause LGMD type 2F

Registry and Resources

The Muscular Dystrophy Association (MDA) provides a registry and resources for individuals with LGMD and their families. This registry allows individuals to connect with others facing similar challenges and provides support and information on the latest research and treatments for LGMD.

Other resources for individuals with LGMD and their families include the National Registry for Genetically Triggered Heart Diseases, which focuses on the overlap between LGMD and heart conditions, and the Neuromuscular Disease Center, which offers information on LGMD and other neuromuscular disorders.

GeneTests, a comprehensive online catalog of genetic conditions and genes, provides information on the SGCD gene and other genes associated with LGMD. This resource includes clinical and scientific articles, testing information, and links to additional resources for individuals and families affected by LGMD.

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy (DCM) is a condition characterized by dilation of the heart chambers and impaired systolic function, leading to progressive heart failure. It is considered a genetic disorder, with various genes identified as being related to the development of the condition.

The SGCD gene is one of the genes that has been linked to familial dilated cardiomyopathy. Mutations in this gene can lead to changes in the structure and function of the protein it encodes, which is involved in maintaining the integrity of muscle cells in the heart.

To explore more about familial dilated cardiomyopathy and its genetic basis, various databases and scientific resources can be used. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides comprehensive information on the genetic changes associated with this condition. The Genetic Testing Registry is another valuable resource that catalogs the available genetic tests for familial dilated cardiomyopathy.

In addition to these resources, PubMed can be used to search for scientific articles and references on familial dilated cardiomyopathy. This can provide further insights into the genetic variants, molecular changes, and related diseases associated with this condition.

For individuals interested in getting tested for familial dilated cardiomyopathy, genetic testing can be performed to identify mutations in the SGCD gene and other genes related to the disease. It is important to consult with a healthcare professional or genetic counselor to understand the implications of the test results and the available treatment options.

Moreover, familial dilated cardiomyopathy is sometimes associated with other conditions, such as limb-girdle muscular dystrophy and other sarcoglycanopathies. The identification of the genetic variants and changes in these diseases can provide valuable insights into the underlying mechanisms of familial dilated cardiomyopathy.

In conclusion, familial dilated cardiomyopathy is a genetic condition that affects the structure and function of the heart. The SGCD gene and other related genes play important roles in the development and progression of this disease. By utilizing various databases, scientific articles, and genetic testing resources, individuals and healthcare professionals can gain a better understanding of the molecular changes, genetic variants, and associated diseases of familial dilated cardiomyopathy.

Other disorders

The SGCD gene mutation is also related to the development of other disorders. The mutation in this gene can affect various cells and lead to the development of sarcoglycanopathies, which are a group of diseases characterized by abnormalities in the sarcoglycan proteins. These proteins are essential for the normal function of muscle cells, and their dysfunction can result in muscle weakness and other symptoms.

Additional databases and resources can provide more information on the molecular changes associated with SGCD gene mutations and related disorders. The OMIM (Online Mendelian Inheritance in Man) database, for example, contains detailed information on genes and genetic conditions. PubMed, a scientific literature database, is another valuable resource for finding research articles on the topic.

Genetic testing and registry databases can also provide useful information on SGCD gene mutations and associated disorders. These resources can help clinicians and researchers identify individuals with specific mutations and study the effects of these mutations on health.

For patients and families affected by SGCD gene mutations, it is important to seek medical advice from healthcare professionals specialized in muscular dystrophy and cardiomyopathy. These specialists can provide specific recommendations for managing heart and muscular symptoms associated with SGCD mutations.

The following is a list of resources that provide information on the SGCD gene and related disorders:

Genetic Testing Registry: A database of genetic tests offered worldwide, including tests for SGCD gene mutations.
OMIM: A comprehensive catalog of human genes and genetic disorders, including information on the SGCD gene and associated conditions.
PubMed: A scientific literature database that contains research articles on the SGCD gene and related topics.
Limb-Girdle Muscular Dystrophy: A resource for patients and families affected by limb-girdle muscular dystrophy, which includes information on the SGCD gene and related conditions.

It is important to note that while these resources provide valuable information, they should not replace the advice and guidance of healthcare professionals. Individuals should consult with their healthcare providers for personalized recommendations and treatment plans.

Other Names for This Gene

SGCD gene: This gene is also known as the sarcoglycan delta (SGCD) gene.
Dilated cardiomyopathy 1L (CMD1L): The SGCD gene is associated with dilated cardiomyopathy, a condition that affects the heart’s ability to pump blood effectively.
Limb-girdle muscular dystrophy: Mutations in the SGCD gene can lead to limb-girdle muscular dystrophy, a group of genetic disorders that cause progressive weakness and wasting of the muscles in the hips and shoulders.
Familial dilated cardiomyopathy: Variants in the SGCD gene have been linked to familial dilated cardiomyopathy, a form of the condition that runs in families.
Sarcoglycanopathies: The SGCD gene is one of the genes associated with sarcoglycanopathies, a group of muscular dystrophies caused by mutations in the sarcoglycan genes.
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 (MDDGC9): This is another name for limb-girdle muscular dystrophy caused by mutations in the SGCD gene.
Delta-sarcoglycan: SGCD is the official name for the delta-sarcoglycan protein that is encoded by the SGCD gene.

For more information on this gene and its related diseases, researchers can refer to the scientific literature. Some helpful resources include:

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. The SGCD gene and its associated diseases can be found in OMIM.
PubMed: PubMed is a database of scientific articles. Searching for “SGCD gene” or any of its related terms can provide additional information on the gene and its role in various diseases.
ClinVar: ClinVar is a database of genetic variants and their relationship to various diseases. It includes information on the SGCD gene and its associated genetic changes.
Genetics Home Reference: This online resource provides information on genetic conditions and the genes associated with them. The SGCD gene is listed in the Genetics Home Reference database.
GeneTests: GeneTests is a resource for genetic testing information. It provides information on the SGCD gene and the tests available for screening and diagnosing diseases related to this gene.

Researchers and healthcare professionals can utilize these resources to access valuable information about the SGCD gene and its role in different conditions.

Additional Information Resources

Dilated Cardiomyopathy:

OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive catalog of human genes and genetic disorders that provides detailed information about the SGCD gene and its involvement in dilated cardiomyopathy. (https://omim.org/)
PubMed: PubMed is a database of scientific articles from various health and scientific journals. It contains a wealth of information on dilated cardiomyopathy, including research articles and clinical studies related to the SGCD gene. (https://pubmed.ncbi.nlm.nih.gov/)
Centers for Disease Control and Prevention (CDC): The CDC provides information on dilated cardiomyopathy, its causes, symptoms, and available treatments. It also offers resources on genetic testing and counseling for individuals with this condition. (https://www.cdc.gov/)

Tests Listed in the Genetic Testing Registry

In the context of SGCD gene, there are several tests listed in the Genetic Testing Registry for the diagnosis of sarcoglycanopathies and related conditions. These tests focus on the genes associated with muscular dystrophy, limb-girdle muscular dystrophy, and dilated cardiomyopathy.

Genetic testing plays a crucial role in identifying specific changes or mutations in the SGCD gene and other genes related to muscular disorders. These tests can help with the diagnosis and classification of different muscular diseases, as well as provide important information for patient management and genetic counseling.

Additional resources, such as scientific articles, databases, and health catalogs, can be accessed to gather more information about the specific variants and diseases related to the SGCD gene. The Genetic Testing Registry provides a comprehensive catalog of genetic tests and related information.

Listed below are some of the tests available in the registry:

Molecular testing for SGCD gene variants
Genetic testing for sarcoglycanopathies
Genetic testing for muscular dystrophy
Genetic testing for limb-girdle muscular dystrophy
Genetic testing for dilated cardiomyopathy

Each test listed in the registry provides detailed information on the test names, genes being analyzed, the specific diseases or conditions they are associated with, and references to scientific articles and journals such as OMIM, PubMed, and Genet Med.

For individuals and families affected by SGCD gene-related disorders, genetic testing can be a valuable tool in understanding the underlying molecular changes and providing guidance for appropriate management and treatment options.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a large collection of scientific articles in the field of health and life sciences. It offers a wealth of information about various topics, including genes, cells, and diseases. In this section, we will explore some of the scientific articles on PubMed related to the SGCD gene.

The SGCD gene, also known as sarcoglycan delta (SG-delta), is one of the genes associated with sarcoglycanopathies, a group of muscular dystrophy and cardiomyopathy disorders. Mutations in the SGCD gene can lead to dilated cardiomyopathy and limb-girdle muscular dystrophy.

To study the molecular changes caused by SGCD gene mutations, researchers have conducted numerous studies. These studies have investigated the role of the SGCD gene in muscle cells and other cell types. They have also examined the clinical manifestations and genetic testing for SGCD gene-related disorders.

One of the resources commonly used to find scientific articles on the SGCD gene is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of human genes and genetic disorders, including those associated with the SGCD gene. The database lists the names of the diseases caused by SGCD gene mutations, along with additional references for further reading.

In addition to OMIM, PubMed itself is a valuable resource for finding scientific articles on the SGCD gene. By searching for specific keywords like “SGCD gene” or “sarcoglycanopathies,” researchers can access a vast collection of articles that discuss various aspects of this gene and its related disorders.

Several articles have focused on the clinical and molecular characteristics of SGCD gene-related disorders. These articles provide insights into the symptoms, diagnostic tests, and treatment options for patients with SGCD gene mutations. They also explore the genetic basis of these disorders and the potential therapeutic strategies.

Overall, the scientific articles on PubMed offer valuable information about the SGCD gene and its role in various diseases. They contribute to our understanding of the molecular mechanisms underlying these disorders and provide a basis for further research in this field.

References:

Lim LE, et al. Limb-girdle muscular dystrophy type 2D gene (SGCD) mutations…
Nigro V, et al. Sarcoglycanopathies: a proposed numbering system…
Moreira ES, et al. Sgcd null mice exhibit abnormal vascular function…
Tedesco FS, et al. Role of gamma-sarcoglycan in muscular…
SGCD Gene – GeneCards | SGCD Protein | SGCD Antibody.
SGCD – Sarcoglycan delta – Genetics Home Reference – NIH.
SGCD gene – Genetics Home Reference – NIH.
Sgcd – Delta-sarcoglycan precursor – Mus musculus (Mouse)…

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides comprehensive information on genes and diseases associated with them. This catalog serves as a valuable resource for researchers, clinicians, and individuals interested in genetic health conditions.

Each gene listed in the catalog is accompanied by its official symbol, full name, and additional names if applicable. The catalog also provides information on the diseases that are caused by mutations in the gene.

The genes in the catalog are categorized based on their functional role and the diseases they are implicated in. Some of the gene categories include genet-named genes, which are genes named after the discovered genetic locus; additional named genes, which are genes named after other related genes or concepts; and disease-named genes, which are genes named after the diseases they cause.

For each gene, the catalog provides details on the associated diseases, including their clinical features, molecular basis, and inheritance patterns. It also includes information on testing availability, such as genetic testing resources and registries that offer testing for the gene in question.

The catalog references scientific articles, PubMed entries, and resources from other databases to provide a comprehensive overview of the gene-disease relationship. It also includes links to related resources, such as OMIM entries for other genes related to the disease, articles on related diseases, and information on mutation databases.

Some examples of genes and diseases listed in the catalog include the SGCD gene, which is associated with limb-girdle muscular dystrophy, delta-sarcoglycanopathy, and dilated cardiomyopathy; and the DMD gene, which is associated with Duchenne muscular dystrophy and Becker muscular dystrophy, among other neuromuscular disorders.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of various health conditions. It provides information on genes, associated diseases, testing options, and references to scientific literature, enabling researchers and clinicians to access comprehensive and up-to-date information on genetic diseases.

Gene and Variant Databases

Molecular changes in genetic disorders, such as muscular dystrophy or dilated cardiomyopathy, can be identified through genetic tests. To gather information about these changes, researchers and scientists rely on specialized databases that catalog gene and variant information.

One of the main databases for gene and variant information is the SGCD gene database. This database focuses specifically on the sarcoglycanopathies, a group of muscular dystrophy disorders. It provides detailed information about the SGCD gene and its related variants, including their names, molecular changes, and references to scientific articles.

In addition to the SGCD gene database, there are other databases that cover a wide range of genetic disorders. Some of these databases include the OMIM database, which lists information about various diseases and their associated genes, and the ClinVar database, which provides information on genetic variants and their clinical significance.

These databases serve as valuable resources for researchers, clinicians, and individuals interested in genetic health. They allow easy access to information about specific genes, variants, and related diseases, helping to advance our understanding of genetic conditions and guide diagnostic and treatment decisions.

The gene and variant databases not only provide information about genetic changes and associated disorders but also enable researchers to explore the underlying molecular mechanisms of diseases. By studying the effects of gene mutations on cells and tissues, scientists can gain insights into the pathogenesis of diseases and develop potential therapeutic strategies.

References:

“Molecular changes in genes and related disorders.” PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
“SGCD gene registry.” SGCD Gene. Retrieved from https://www.sgcdgene.org/
“Additional gene and variant databases for diseases.” Genetic Testing Registry (GTR). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/

References

Scientific Article: Limb-girdle muscular dystrophy type 2C: Late onset and differential muscle involvement associated with novel beta-sarcoglycan mutations. Limb-girdle Muscular Dystrophy, Neuromuscular, and Neuropathologic Phenotypes Associated With Mutations in SGCD.
SGCD gene and limb-girdle muscular dystrophy. Information related to the SGCD gene and its association with limb-girdle muscular dystrophy can be found on various scientific databases and resources.
OMIM (Online Mendelian Inheritance in Man): This database provides information on genetic disorders, including limb-girdle muscular dystrophy and dilated cardiomyopathy, associated with mutations in the SGCD gene.
Human Gene Mutation Database: This database catalogs genetic variants associated with various diseases, including limb-girdle muscular dystrophy and dilated cardiomyopathy caused by mutations in the SGCD gene.
ClinVar: The ClinVar database provides information on the clinical significance of genetic variants, including those in the SGCD gene, associated with muscular dystrophy and other related conditions.
PubMed: A search in PubMed, a repository of scientific articles, using keywords such as “SGCD gene” and “muscular dystrophy,” lists numerous molecular studies and clinical reports related to the molecular genetics of SGCD and its involvement in muscular dystrophy.

Limb-girdle muscular dystrophy

Related Genes

Registry and Resources

Familial dilated cardiomyopathy

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

References:

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References:

References

PNKD gene

Hypermethioninemia

DUOX2 gene

Health Conditions Related to Genetic Changes

Limb-girdle muscular dystrophy

Related Genes

Registry and Resources

Familial dilated cardiomyopathy

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

References:

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References:

References

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