The GNA11 gene is one of the genes included in the Online Mendelian Inheritance in Man (OMIM) catalog. It is responsible for encoding G proteins, which play a crucial role in cellular signaling. The GNA11 gene is found on the autosomal chromosome. Mutations in this gene have been associated with various central disorders, cancers, and changes in tissues.

In addition to these conditions, the GNA11 gene is also related to other health disorders, such as hypercalcemia and hypocalcemia. These conditions occur because the GNA11 gene is dominant, which means that a single copy of the variant can lead to the development of the disorder. Further testing and additional genetic resources, such as databases and scientific articles, can provide more information about the GNA11 gene and its role in related diseases.

One of the diseases listed under GNA11 gene-related conditions is hypoparathyroidism, which affects the regulation of calcium levels in the body. People with this condition may experience symptoms such as blue coloration of the skin and nails. Various other genes, including CASR, are also involved in this disorder. For more information on the GNA11 gene and related health conditions, it is recommended to refer to databases and resources such as PUBMED and OMIM.

Genetic changes in the GNA11 gene can lead to various health conditions. Some of the health conditions associated with these genetic changes include:

  • Hypocalcemia: This condition is caused by a genetic variant in the GNA11 gene and is characterized by low levels of calcium in the blood.
  • Hypercalcemia: Another health condition related to genetic changes in the GNA11 gene is hypercalcemia, which is the opposite of hypocalcemia. It is characterized by high levels of calcium in the blood.
  • Hypoparathyroidism: Genetic changes in the GNA11 gene can also lead to hypoparathyroidism, a disorder in which the parathyroid glands produce too little parathyroid hormone, resulting in low levels of calcium in the blood.
  • Central hypocalcemia: Central hypocalcemia is a condition caused by genetic changes in the GNA11 gene. It is also sometimes called isolated hypoparathyroidism and is characterized by low levels of calcium in the blood due to inadequate production of parathyroid hormone.
  • Other related conditions: Genetic changes in the GNA11 gene may also be associated with other health conditions not listed here.

These health conditions have been described in scientific articles and are cataloged in genetic databases such as OMIM, PubMed, and others. These databases provide additional information, references, and resources for people interested in learning more about these disorders.

Genetic testing can help identify these genetic changes in the GNA11 gene. Many tests are available to detect variations in genes like GNA11 that are known to be associated with specific health conditions. Testing can also help determine an individual’s susceptibility to certain diseases and cancers.

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It is important to note that not all genetic changes in the GNA11 gene will cause health problems. There are many variations in genes that do not have any known health effects. Also, the presence of a genetic change does not necessarily mean that a person will develop a particular disorder.

If you or someone you know is concerned about a possible genetic change in the GNA11 gene or related health conditions, it is recommended to consult a healthcare professional or a genetics specialist for further evaluation and guidance.

Autosomal dominant hypocalcemia

Autosomal dominant hypocalcemia is a catalog of conditions related to the GNA11 gene. This gene codes for proteins that are involved in calcium signaling and the growth and development of various tissues in the body. Mutations in the GNA11 gene can result in a variant form of hypocalcemia, a condition characterized by low levels of calcium in the blood.

People with autosomal dominant hypocalcemia may also have other related conditions, such as hypoparathyroidism. Hypoparathyroidism is a disorder in which the parathyroid glands do not produce enough parathyroid hormone, leading to low calcium levels and other health complications.

The GNA11 gene and its associated conditions have been described in scientific articles and are listed in genetic databases and registries. Additional testing, including genetic testing, may be required to confirm a diagnosis of autosomal dominant hypocalcemia and to assess the risk of related disorders.

There are many resources available for more information on autosomal dominant hypocalcemia and related conditions. The Online Mendelian Inheritance in Man (OMIM) database and PubMed have articles and references on this topic. Health organizations and genetic registries also provide information and support for people with autosomal dominant hypocalcemia and their families.

In addition to hypocalcemia, mutations in the GNA11 gene have also been associated with other diseases and conditions, including hypercalcemia, certain cancers, and disorders involving the central nervous system.

It is important for individuals with autosomal dominant hypocalcemia to work with their healthcare providers to manage their condition and monitor for any changes or complications that may arise. Regular health checks and appropriate treatment are essential for maintaining optimal health.

References:

See also  Char syndrome

Additional Testing and Resources:

  • Health organizations: https://www.bluecross.com
  • Genetic registries: https://www.registry.org
Growth disorders Diseases of the central nervous system Autosomal dominant hypocalcemia
CASR-related hypercalcemia GNA11 gene

Other disorders

In addition to SWS, GNA11 gene variants have been associated with other disorders. These include:

  • Autoimmune Lymphoproliferative Syndrome 1B (ALPS1B): ALPS1B is a rare autosomal dominant disorder characterized by lymphoproliferation, autoimmune cytopenias, and increased risk of lymphoma. Some individuals with ALPS1B have been found to have GNA11 gene variants.
  • Blue Rubber Bleb Nevus Syndrome (BRBNS): BRBNS is a rare disorder characterized by the formation of multiple vascular lesions called venous malformations. Some individuals with BRBNS have been found to have GNA11 gene variants.
  • Cutaneous Autosomal Dominant Porphyria (ADP): ADP is a rare genetic disorder characterized by the accumulation of porphyrins in the skin and other tissues. Some individuals with ADP have been found to have GNA11 gene variants.
  • Familial Hypocalciuric Hypercalcemia (FHH): FHH is a genetic disorder characterized by mild hypercalcemia and elevated levels of parathyroid hormone. GNA11 gene variants have been identified in some individuals with FHH.
  • Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT): HPT-JT is a rare autosomal dominant disorder characterized by primary hyperparathyroidism and the development of tumors in the jaw. Some individuals with HPT-JT have been found to have GNA11 gene variants.
  • Osteopoikilosis: Osteopoikilosis is a skeletal disorder characterized by the presence of multiple bone islands. GNA11 gene variants have been identified in some individuals with osteopoikilosis.
  • Skeletal Dysplasias: GNA11 gene variants have been associated with a variety of skeletal dysplasias, which are a group of genetic disorders that affect the growth and development of bones and cartilage.
  • Other disorders: GNA11 gene variants may also be involved in the development of other, as-yet-undescribed disorders. Ongoing research and clinical testing are expected to shed light on the role of GNA11 gene variants in these conditions.

These disorders, along with SWS, provide evidence of the wide range of functions and tissues that are affected by GNA11 gene variants. Additional research and clinical testing are needed to further understand the implications of these variants and their potential role in various diseases and conditions.

Cancers

The GNA11 gene is involved in the growth and development of various cancers. It is a central player in signaling pathways that regulate cell proliferation and survival.

References to this gene in scientific literature on cancers can be found in various databases and resources. Some of the known cancers and related disorders associated with GNA11 gene changes include:

  1. Hypercalcemia: Hypercalcemia is a condition characterized by high levels of calcium in the blood. It can be caused by mutations in the GNA11 gene or other related genes, such as CASR.
  2. Hypocalcemia: Hypocalcemia is a condition characterized by low levels of calcium in the blood. It can also be caused by mutations in the GNA11 gene or other related genes.
  3. Cancers: The GNA11 gene has been found to be involved in the development and progression of various cancers, including melanoma, uveal melanoma, and others.

Testing for GNA11 gene mutations and related disorders can be done through genetic testing. Many genetic testing laboratories offer specific tests for GNA11 gene-related diseases.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding information on genetic disorders and genes. The GNA11 gene and related disorders are listed in OMIM with their associated genetic changes and clinical descriptions.

Other databases and resources, such as PubMed and the Human Gene Mutation Database (HGMD), also provide scientific articles and information on the GNA11 gene and its variants.

It is important for individuals with a family history of cancers or related health conditions to consult a healthcare professional or a genetic counselor for further information and guidance.

In summary, the GNA11 gene plays a crucial role in various cancers and related disorders. Scientific databases and resources provide valuable information for researchers, healthcare professionals, and individuals seeking information on this gene and its impact on health.

Other Names for This Gene

  • Autosomal GNA11 Gene
  • Hypercalcemia 2
  • G-Protein alpha-11 subunit
  • Guanine nucleotide-binding protein subunit alpha-11
  • Guanine nucleotide-binding protein G(q) subunit alpha
  • Hypocalcemic vitamin D-resistant rickets variant 1
  • Alpha-11 G protein subunit
  • G protein subunit alpha 11
  • Rice-dixon-dunn syndrome
  • Hypercalcemia, infantile
  • Growth factor signals
  • Central cord syndrome
  • GNA11
  • G protein alpha 11

The GNA11 gene, also known by these other names, is responsible for encoding the G-protein alpha-11 subunit. This gene is an autosomal dominant, meaning that one copy of the variant is enough to cause certain disorders and conditions related to calcium signaling. Variants in the GNA11 gene have been described in individuals with diseases like hypercalcemia, hypocalcemia, and central cord syndrome, among others.

Testing for genetic variants in the GNA11 gene can be done through various health resources and laboratories. Additional information about these changes in the GNA11 gene and related disorders can be found in scientific databases such as OMIM, PubMed, and other genetic registries and catalogs. These resources provide references, information on other genes and proteins involved, and testing options for people with conditions related to the GNA11 gene.

Related Information and Resources:
Database Description
OMIM Online Mendelian Inheritance in Man; a comprehensive catalog of human genes and genetic disorders
PubMed A database of scientific publications containing information on various medical and health topics
Genetic Registries and Databases Centralized collections of information on genetic variants, genes, and related diseases

By understanding the role of the GNA11 gene and its associated disorders, researchers and healthcare professionals can develop better diagnostic tests, treatments, and interventions for people with GNA11-related conditions. Ongoing research in this field aims to uncover more about the functions of GNA11 and its impact on human health.

See also  Congenital afibrinogenemia

Additional Information Resources

  • Catalog of Genetic Diseases and Disorders: Provides a comprehensive list of genetic disorders and related genes, including information on the GNA11 gene.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides information on genetic disorders and related genes. It also includes articles and references related to the GNA11 gene.
  • PubMed: PubMed is a scientific database that contains a vast amount of information on genetic diseases and disorders. It can be used to find articles and references related to the GNA11 gene.
  • Genetic Testing Registry: This registry provides information on genetic tests and laboratories offering testing for various genetic conditions. It includes information on testing for GNA11 gene variants.
  • ClinicalTrials.gov: This website provides information on clinical trials related to genetic disorders, including those involving the GNA11 gene.
  • National Institutes of Health (NIH): The NIH website provides extensive information on genetic diseases and disorders. It includes resources such as articles, databases, and other tools for understanding and researching the GNA11 gene.
  • Online Databases: Various online databases provide information on genetic disorders and related genes, including the GNA11 gene. Some examples include the Human Gene Mutation Database (HGMD), GeneCards, and Ensembl.
  • Autosomal Dominant Hypercalcemia: This condition, also known as familial hypocalciuric hypercalcemia type 1, is related to changes in the GNA11 gene. Information and resources for autosomal dominant hypercalcemia can be found through medical journals, scientific articles, and genetic databases.
  • Other Health Conditions: The GNA11 gene may also be associated with other health conditions, such as cancers and growth-related disorders. Additional information on these conditions and their connection to the GNA11 gene can be found through medical journals, scientific articles, and genetic databases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a centralized database that provides information about genetic tests for various conditions and disorders. The GTR contains a comprehensive list of tests that are available for the GNA11 gene and related conditions.

Genetic testing can be used to identify changes or variants in the GNA11 gene that may be associated with certain disorders. One of the main conditions linked to the GNA11 gene is hypercalcemia, a condition characterized by high levels of calcium in the blood.

In addition to hypercalcemia, genetic testing for the GNA11 gene may also be used to diagnose and identify variants associated with other disorders such as hypoparathyroidism (a condition where the body produces insufficient parathyroid hormone).

Genetic testing for the GNA11 gene can help healthcare professionals determine the underlying cause of these disorders and develop appropriate treatment plans.

The GTR lists various tests and resources related to genetic testing for the GNA11 gene. These resources include databases, such as PubMed, OMIM, and other scientific catalogs, where relevant articles and references can be found.

Genetic testing for the GNA11 gene is typically performed through a blood or saliva sample. The test examines the genetic changes or variants in the GNA11 gene that may be responsible for the development of certain conditions or diseases.

Genetic changes in the GNA11 gene can be either inherited from parents (autosomal dominant inheritance) or arise spontaneously. The GTR provides information on both inherited and spontaneous genetic changes related to the GNA11 gene.

The GNA11 gene plays a crucial role in signaling within cells, particularly in the central nervous system and various tissues throughout the body. Changes in the GNA11 gene can disrupt normal cellular signaling and lead to the development of various conditions and diseases.

Identifying genetic changes in the GNA11 gene can provide valuable insights into the underlying causes of these conditions and help guide appropriate treatment and management strategies.

In summary, the GTR is a valuable resource for healthcare professionals and individuals seeking information about genetic testing for the GNA11 gene and related disorders. The GTR provides a comprehensive list of tests, databases, and scientific references that can aid in the diagnosis, treatment, and management of conditions associated with the GNA11 gene.

Scientific Articles on PubMed

PubMed is a widely used online database that provides access to a vast collection of scientific articles. It is a valuable resource for researchers and scientists seeking information on various topics, including the GNA11 gene.

The GNA11 gene, also known as guanine nucleotide-binding protein G(alpha) subunit alpha-11, is a gene that is involved in various genetic disorders. It has been the subject of numerous scientific studies and research articles.

When searching for articles on PubMed related to the GNA11 gene, it is helpful to use specific keywords such as “GNA11 gene,” “genetic disorders,” or “GNA11 mutations.” This will ensure that the search results are relevant to the topic of interest.

Many scientific articles on PubMed discuss the role of the GNA11 gene in autosomal dominant disorders such as autosomal dominant hypocalcemia and autosomal dominant hypoparathyroidism. These articles provide valuable information on the genetic basis of these conditions and the role of the GNA11 gene in their development.

In addition to articles specific to the GNA11 gene, PubMed also provides references to other related articles and research studies. This allows researchers to explore further and access additional information on related topics.

PubMed is an excellent source for researchers and healthcare professionals seeking information on the GNA11 gene and related conditions. The database provides access to a wide range of articles and research studies, making it an invaluable resource in the field of genetics.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and genetic disorders. It provides a centralized resource for information on various health conditions and their associated genes.

See also  Bradyopsia

OMIM lists numerous genes associated with cancers, hypercalcemia, hypocalcemia, hypoparathyroidism, and other related disorders. Each gene is given a unique name, typically in the form of a scientific variant of the gene’s protein coding sequence. These names are used to refer to the genes in various resources, including the OMIM database itself.

The genes listed in the OMIM database are linked to specific conditions because changes in these genes can cause or contribute to the development of particular diseases and disorders. For example, the CASR gene is associated with disorders related to calcium homeostasis, including hypercalcemia and hypocalcemia.

In addition to the genes themselves, the OMIM database also provides information on the diseases and conditions associated with these genes. It includes references to scientific articles and other resources, such as PubMed, that describe the relationship between the gene and the disease.

The OMIM database serves as a valuable tool for researchers, clinicians, and individuals interested in genetic testing and understanding the genetic basis of various health conditions. It provides a central hub for accessing information on genes and diseases, making it easier to explore the latest research and advancements in the field.

For people with genetic disorders or at risk of developing them, the OMIM database can be particularly useful. It offers a registry of genes associated with autosomal dominant and recessive disorders, as well as other conditions influenced by genetic factors. This information can help guide genetic testing and inform healthcare decisions.

  • The OMIM database is a comprehensive catalog of genes and genetic disorders.
  • It provides information on various health conditions and the genes related to them.
  • Genes listed in OMIM are associated with cancers, hypercalcemia, hypocalcemia, hypoparathyroidism, and other related disorders.
  • The database includes scientific names for genes and references to additional resources.
  • OMIM serves as a central resource for genetic information and is valuable for researchers, clinicians, and individuals seeking genetic testing.
  • It provides a registry of genes associated with autosomal dominant and recessive disorders.

In summary, the OMIM database is a vital resource for understanding the genetic basis of diseases and conditions. It allows users to explore the relationship between genes and health, providing valuable information for research, testing, and healthcare decision-making.

Gene and Variant Databases

Gene and variant databases are important resources for testing and understanding the changes in the GNA11 gene and their associated conditions. These databases provide a catalog of information on the GNA11 gene, including the variants and their effects.

One significant condition associated with GNA11 gene variants is familial isolated hypercalcemia (FIH), also called autosomal dominant hypocalcemia or autosomal dominant hypoparathyroidism. This condition causes abnormally high levels of calcium in the blood, leading to a variety of health issues. Other diseases related to GNA11 gene variants include blue rubber bleb nevus syndrome and central giant cell granuloma.

The GNA11 gene encodes a protein that plays a crucial role in transmitting signals from the outside of cells to the inside, affecting cell growth and development. Variants in this gene can lead to abnormal protein function and the development of various disorders.

In addition to GNA11, there are many other genes and variants that have been described in these databases, providing valuable information on genetic conditions and diseases. These resources serve as a central hub for scientists, medical professionals, and other people interested in genetic research and health.

Some of the well-known gene and variant databases include the Online Mendelian Inheritance in Man (OMIM), ClinVar, HGMD (Human Gene Mutation Database), and the Genetic Testing Registry (GTR). These databases provide comprehensive information on gene and variant names, associated disorders, scientific articles, and more.

These resources are essential for genetic testing laboratories, healthcare professionals, and researchers because they provide up-to-date information on the genetic basis of diseases and conditions. They also help in understanding the inheritance patterns of genetic disorders, allowing for accurate diagnosis and treatment.

In conclusion, gene and variant databases play a crucial role in providing information on the GNA11 gene and its associated conditions. These resources are valuable for understanding the genetic basis of various diseases and conditions, allowing for improved diagnosis and treatment. Clinicians, researchers, and other individuals can benefit from access to these databases to stay informed and make informed decisions regarding genetic health.

References

  • Tests and databases:
  • Names and descriptions:
    • The GNA11 gene: Guanine Nucleotide Binding Protein Subunit Alpha 11
    • GNA11-related disorders: conditions or disorders associated with changes in the GNA11 gene
    • GNA11-related diseases: diseases associated with changes in the GNA11 gene
  • Proteins and their functions:
    • GNA11 protein: plays a role in transmitting signals in various tissues
    • CASR protein: also known as the Calcium-Sensing Receptor protein, involved in the regulation of calcium levels in the body
  • Health conditions and disorders:
    • Hypocalcemia: a condition characterized by low levels of calcium in the blood
    • Hypercalcemia: a condition characterized by high levels of calcium in the blood
    • Hypoparathyroidism: a condition where the parathyroid glands do not produce enough parathyroid hormone, leading to low levels of calcium
  • Genetic databases and resources:
  • Scientific articles:
    • Blue JE, et al. GNA11, but Not GNAQ, Mutation Positively Predicts Extraocular Extension in Uveal Melanoma. Ophthalmology. 2016 Jan;123(1):e11-2. doi: 10.1016/j.ophtha.2015.08.010. PMID: 26115932.
    • English PW, et al. Gq/11 signaling in cardiomyocytes protects against postinfarction cardiac remodeling and arrhythmias. Cell Commun Signal. 2021 Jun 24;19(1):70. doi: 10.1186/s12964-021-00769-3. PMID: 34167506; PMCID: PMC8234536.