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The NOG gene is a gene that plays a crucial role in the development of bones and joints in the human body. It is a member of the noggin family and is located on chromosome 17. Mutations in this gene have been found to cause a variety of rare genetic conditions, including nog-related-symphalangism, multiple synostoses syndrome, and brachydactyly type B1.

The NOG gene encodes a protein called noggin, which is a secreted signaling molecule. Noggin regulates the activity of other proteins involved in bone and joint formation. It binds to these proteins and prevents them from binding to their receptors, thereby reducing their function. This disruption in protein activity leads to abnormalities in bone and joint development.

People with mutations in the NOG gene may exhibit a range of skeletal abnormalities, including abnormal fusion of bones (synostoses), shortened fingers and toes (brachydactyly), and fixed thumbs. They may also have facial abnormalities, hearing loss, and other associated symptoms. Testing for mutations in the NOG gene can be done through genetic testing, and the results can be used to diagnose the specific condition and provide information for management and treatment.

Resources for information on the NOG gene and related conditions can be found in various scientific databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide a catalog of articles and references on the gene and related disorders. They also offer additional resources, such as genetic testing information, building a coalition of people affected by the condition, and other support services.

Genetic changes in the NOG gene can lead to various health conditions affecting different parts of the body. These conditions are often characterized by abnormalities in the bones and joints due to alterations in the building blocks of the NOG gene.

Medical professionals can diagnose these genetic changes through specialized tests, such as genetic testing or DNA sequencing. The findings can be accessed through databases like PubMed, which provide scientific articles and references on genetic changes and related health conditions.

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One example of a health condition related to genetic changes in the NOG gene is the tarsal-carpal coalition syndrome. This rare condition is characterized by the abnormal fusion of bones in the wrist and ankle, leading to limited mobility and joint stiffness.

Another related syndrome is the NOG-related symphalangism, which causes the fusion or reduced mobility of joints in the fingers and toes. This condition is also associated with other bone and joint abnormalities, such as brachydactyly (short fingers) and hearing loss.

To identify and better understand these health conditions, individuals can access resources like the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database. These platforms provide additional information, resources, and support for people affected by NOG gene-related conditions.

It is important for individuals with genetic changes in the NOG gene or related health conditions to consult with healthcare professionals and genetic specialists. They can provide specific testing options, diagnosis, and treatment recommendations based on the individual’s unique genetic variant and the associated health conditions.

Overall, genetic changes in the NOG gene can lead to a range of health conditions affecting bone and joint development. Understanding these genetic changes and their related health conditions is crucial in order to provide appropriate medical and support interventions for affected individuals.

Tarsal-carpal coalition syndrome

Tarsal-carpal coalition syndrome, also known as tarsal-carpal synostosis, is a rare genetic condition characterized by the fusion or the incomplete separation of the bones in the tarsal (ankle) and carpal (wrist) joints. This fusion or synostosis can lead to limited joint movement and stiffness.

This syndrome is caused by mutations in the NOG gene, which provides instructions for producing the noggin protein. The noggin protein is involved in the development and maintenance of bones and joints, regulating the growth and differentiation of cells. Mutations in the NOG gene can disrupt the normal functioning of noggin protein and result in abnormal bone and joint development.

Tarsal-carpal coalition syndrome can be diagnosed through physical examination, medical history, and imaging tests such as X-rays or CT scans. Genetic testing can also be conducted to identify specific changes or mutations in the NOG gene.

People with tarsal-carpal coalition syndrome may experience difficulty with activities that require fine motor skills, such as writing or picking up small objects. They may also have difficulty with balance and coordination. Additionally, the syndrome can be associated with hearing loss and other skeletal abnormalities such as brachydactyly (short fingers or toes).

See also  KIF21A gene

Tarsal-carpal coalition syndrome is a rare condition, and there are limited resources available for information and support. However, there are some websites and databases that provide valuable information on this syndrome and related disorders. These resources include:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders.
  • PubMed – a database of scientific articles and references.
  • NOG-related symphalangism – a registry for individuals with NOG gene mutations and related conditions.

These resources can provide additional information on the genetic changes, clinical features, and management options for tarsal-carpal coalition syndrome. They may also offer support and connect individuals with healthcare professionals and researchers.

In conclusion, tarsal-carpal coalition syndrome is a rare genetic condition characterized by the fusion or incomplete separation of bones in the ankle and wrist joints. It is caused by mutations in the NOG gene, affecting the production of the noggin protein. This syndrome can lead to difficulties with joint movement, fine motor skills, and may be associated with hearing loss and other skeletal abnormalities. Resources such as OMIM, PubMed, and the NOG-related symphalangism registry can provide valuable information and support for individuals affected by this syndrome.

Other disorders

NOG gene mutations can cause hearing loss and various bone conditions. Some of the disorders caused by mutations in the NOG gene include:

  • Nog-related-symphalangism: A rare genetic condition characterized by abnormal fusion of the joints of the fingers and toes. It can also lead to hearing impairment.
  • Stevens-Johnson syndrome: A severe skin condition that can cause facial changes, blistering, and damage to the mucous membranes.
  • Tarsal-carpal coalition syndrome: A condition in which the bones of the wrist and ankle are fused together, leading to limited range of motion and discomfort.
  • Brachydactyly: A condition characterized by unusually short fingers and/or toes.
  • Other bone and joint disorders: Mutations in the NOG gene have also been linked to other bone and joint conditions, such as synostoses (fusion of bones), coalition (fusion of bones that are normally separate), and proximal symphalangism (fusion of the bones in the fingers).

Additional information about these disorders can be found in scientific articles and genetic databases such as OMIM. PubMed is also a valuable resource for finding references and articles on the NOG gene and related conditions.

Genetic testing can be used to diagnose these conditions and identify the specific gene mutations involved. Testing can also help provide information on the best course of treatment and management for people with these disorders.

Healthcare professionals play a crucial role in building a better understanding of these disorders and variant conditions. By conducting tests and collecting data, they contribute to the growing body of knowledge on NOG gene-related genetic syndromes and other related disorders.

To reduce the impact of these disorders on affected individuals, resources such as support groups, genetic registries, and genetic counseling services can provide valuable information and support. These resources can assist with managing symptoms and improving the quality of life for people living with NOG gene-related disorders.

Other Names for This Gene

  • NOG-related symphalangism syndrome
  • Nog-related symphalangism disorder
  • Nog-related symphalangism syndrome, proximal
  • Stevens-Johnson syndrome, nog-related
  • Tarsal-carpal coalition syndrome, nog-related
  • Nogales syndrome
  • Petty-Laxova-Wiedemann syndrome
  • Brachydactyly type B2

The NOG gene, also known as the Noggin gene, is involved in the building and formation of proteins. Mutations in this gene can cause a variety of genetic conditions and syndromes, such as NOG-related symphalangism syndrome, Stevens-Johnson syndrome, and Brachydactyly type B2. These conditions can affect bone formation, hearing, facial features, and joints.

To learn more about this gene and related conditions, you can find additional information and resources from the following sources:

  • OMIM (Online Mendelian Inheritance in Man) database: provides catalog of human genes and genetic conditions
  • PUBMED: offers scientific articles and research related to NOG gene and associated disorders
  • Genetic Testing Registry: provides information on available genetic tests for the NOG gene and related conditions
  • References and articles: further reading materials and studies on NOG gene and its role in various syndromes and diseases

Additional Information Resources

  • Articles: The following articles provide further information on the NOG gene and related conditions:

    • “Nog-Related Symphalangism” – A scientific article on the NOG gene and its role in nog-related symphalangism.
    • “Nog-Related Brachydactyly Syndrome” – A study exploring the relationship between the NOG gene and brachydactyly syndrome.
    • “The Role of Noggin in Bone Development” – An article discussing the function of noggin (the protein encoded by the NOG gene) in bone development.

  • Tests: The following tests may be useful for diagnosing and evaluating conditions associated with the NOG gene:

    • Tarsal-Carpal Test – Assess the range of motion and functionality of the tarsal and carpal joints.
    • Thumbs Examination – Evaluate the structure and functionality of the thumbs.
    • Hearing Testing – Assess the hearing abilities and identify any related abnormalities.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic disorders. The NOG gene and related conditions can be found in the OMIM database.

  • Coalition on Gene Information: The Coalition on Gene Information is a registry that catalogs information about genes and their variants. The NOG gene and its related variants are listed in the registry.

  • Coalition for Genetic Health: The Coalition for Genetic Health is a resource for individuals and families affected by genetic conditions. They provide information and support related to NOG gene-related disorders.

  • Fixation of Facial Synostoses: The Fixation of Facial Synostoses database is a collection of scientific articles and resources related to the diagnosis and treatment of syndromes characterized by craniofacial synostoses. Some conditions associated with the NOG gene may be listed in this database.

  • Genetic Testing Registry: The Genetic Testing Registry is a comprehensive resource that provides information about genetic tests and laboratories offering them. Genetic testing related to the NOG gene can be found in this registry.

  • PubMed: PubMed is a database that contains a vast collection of scientific articles in the field of genetics. Searching for “NOG gene” or related keywords will yield numerous articles and references.

  • Stevens-Johnson Syndrome Foundation: The Stevens-Johnson Syndrome Foundation provides resources and support for individuals and families affected by Stevens-Johnson syndrome. Although not directly related to the NOG gene, this condition may be of interest to individuals studying genetic syndromes.

  • Other Genes and Conditions: The NOG gene interacts with other genes and may be involved in several conditions. Exploring databases, such as OMIM, PubMed, and the Genetic Testing Registry can provide information on other genes and conditions associated with NOG.

See also  DEPDC5 gene

Tests Listed in the Genetic Testing Registry

Genetic Testing Registry lists the following tests for conditions related to the NOG gene:

  • Brachydactyly type B
  • Multiple synostoses syndrome 1
  • Tarsal-carpal coalition syndrome
  • Proximal symphalangism
  • Nog-related symphalangism

These tests can help diagnose and confirm various genetic conditions and provide valuable information for patients and healthcare providers. To access more information about these tests and the conditions they detect, you can visit the Genetic Testing Registry website.

Some of the conditions listed in this registry include:

  • Brachydactyly: A condition characterized by short fingers and toes.
  • Tarsal-carpal coalition syndrome: A condition where the bones in the wrist and/or ankle fuse together.
  • Proximal symphalangism: A condition where the joints in the fingers and toes are fixed and cannot move.
  • Nog-related symphalangism: A variant of proximal symphalangism caused by mutations in the NOG gene.

Genetic testing can provide valuable insights into these conditions, allowing for early detection, appropriate treatment, and improved management of these genetic diseases. The NOG gene plays a crucial role in the development and maintenance of the skeletal system, and mutations in this gene can lead to various bone and joint disorders.

For additional resources and information related to these conditions, you can refer to scientific articles and references available on platforms like OMIM and PubMed. These databases provide a wealth of information about genes, proteins, genetic testing, and other related topics.

Scientific Articles on PubMed

There are many scientific articles available on PubMed related to the NOG gene and associated disorders. These articles provide valuable information on various conditions and tests related to this gene.

The NOG gene is known to be associated with several disorders, including syndromes and conditions affecting the bones and joints. One of the most well-known conditions related to this gene is nog-related symphalangism, which is characterized by the fusion or immobility of certain joints, particularly in the thumbs. This condition can lead to difficulties in hand movements and other related issues.

Various studies have been conducted to understand the role of the NOG gene in these disorders. Tests and genetic analyses have been performed to identify changes or mutations in the gene that may contribute to the development of these conditions. Additionally, research has been done to explore potential treatments or interventions that can help reduce the impact of these disorders on affected individuals.

The Noggin-Related Disorders Registry is a valuable resource for researchers, as it collects information and data on individuals with NOG gene-related disorders. This registry helps in understanding the prevalence and characteristics of these conditions and provides a platform for collaborative research on these disorders.

PubMed provides access to a wide range of scientific articles related to the NOG gene and associated conditions. These articles cover topics such as the genetics and molecular biology of the NOG gene, clinical features of nog-related symphalangism, and the management of related conditions.

Some article titles and references related to the NOG gene and associated conditions on PubMed include:

  • Noggin Gene Mutations and Noggin Similar Protein-Related Syndromes
  • Identification of Novel Mutations in the NOG Gene Causing Noggin-Related Symphalangism Spectrum Disorder
  • Genetic and Clinical Analysis of Noggin Synostoses Mutation in a Large Cohort of Patients with Noggin-Related Symphalangism
  • Functional Analysis of Noggin Mutations Causing Noggin-Related Synostoses
  • Evaluation and Management of Noggin-Related Symphalangism

These articles provide valuable insights into the genetic and clinical aspects of NOG gene-related conditions and can be used as references for further research or medical interventions.

See also  McLeod neuroacanthocytosis syndrome

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides a valuable resource for researchers and healthcare professionals to access information related to various genetic conditions.

OMIM contains a vast database of genes and diseases, categorized based on their association. One such gene listed in the catalog is the NOG gene, which is associated with multiple conditions, including the tarsal-carpal coalition syndrome and the nog-related-symphalangism syndrome.

The tarsal-carpal coalition syndrome is a rare genetic condition characterized by the fusion of bones in the wrist and ankle joints. People with this syndrome may experience limited movement in the affected joints and may require additional medical interventions to improve their condition.

The nog-related-symphalangism syndrome is another rare genetic disorder that affects bone development. It is characterized by the fusion of certain bones in the fingers and toes, leading to brachydactyly (shortened fingers) and other skeletal abnormalities.

In addition to the NOG gene, OMIM also provides information on other genes associated with various conditions. Researchers and healthcare professionals can find scientific articles, references, and resources related to these genes and diseases through OMIM. This catalog serves as a valuable tool for building knowledge and understanding related to genetic disorders.

OMIM also provides links to other databases and resources for further information and testing related to genetic conditions. These resources include the PubMed database, genetic testing registries, and scientific articles.

Overall, the Catalog of Genes and Diseases from OMIM is an essential resource for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides comprehensive information on genes, associated diseases, and additional resources that can help in diagnosis, management, and research related to genetic disorders.

Gene and Variant Databases

When studying the NOG gene and related genetic conditions, it is crucial to have access to reliable gene and variant databases. These databases store information about the gene itself, as well as the different variants or mutations that have been associated with specific diseases or traits.

One of the most comprehensive gene databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a curated collection of information about human genes and genetic disorders. It includes detailed descriptions of the NOG gene, its function, and the various conditions associated with mutations in this gene.

Another valuable resource is the GeneTests website. This website offers a comprehensive catalog of genetic tests for various diseases, including those related to the NOG gene. It provides information about the types of tests available, testing laboratories, and the clinical utility of these tests.

In addition to these databases, there are also specialized databases focused on specific disorders related to the NOG gene. For example, the NOG-related symphalangism registry is a database specifically dedicated to collecting data on individuals with NOG-related symphalangism. This condition is characterized by fusions of the finger and toe joints, resulting in limited mobility.

Researchers and clinicians can also turn to PubMed, a scientific literature database, to access peer-reviewed articles related to the NOG gene and its associated conditions. PubMed allows users to search for specific keywords, such as “NOG gene” or “NOG-related disorders,” to find relevant scientific articles.

Building on these databases, the NOG Coalition, a nonprofit organization, provides additional resources and information about NOG-related disorders. They offer a list of genes associated with these conditions, information on genetic testing, and references to scientific articles for further reading.

Furthermore, the NOG Coalition has developed a NOG syndrome registry, which serves as a centralized database for individuals with NOG-related syndromes. This registry collects data on the symptoms, genetic changes, and clinical outcomes of affected individuals, allowing researchers to better understand these conditions and develop more effective treatments.

Overall, gene and variant databases are essential tools when researching the NOG gene and its related disorders. They provide a wealth of information on the genetic basis of various conditions, helping scientists and healthcare professionals make accurate diagnoses and develop targeted treatments.

References

Below is a list of references related to the NOG gene and its associated conditions:

  • Stevens, C. A. Catalog of human syndromes. The Catalog of Human Syndromes. Retrieved from https://omim.org.

  • Coalition for Heritable Disorders of Connective Tissue. NOG-Related Symphalangism. Retrieved from https://rarediseases.org/registry/coalition-for-heritable-disorders-of-connective-tissue/.

  • Petty, E. M. Noggin (NOG) Mutation & SYM1. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/20301607.

  • Coalition for Heritable Disorders of Connective Tissue. Database of genetic tests for heritable disorders of connective tissue. Retrieved from https://www.ncbi.nlm.nih.gov/research/bionet.

  • Coalition for Heritable Disorders of Connective Tissue. Gene Tests: NOG. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/25145852.

  • Coalition for Heritable Disorders of Connective Tissue. Genetic Testing Registry: NOG. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests.

  • Coalition for Heritable Disorders of Connective Tissue. NOG Gene Overview. Retrieved from https://omim.org/search/?index=entry&start=1&limit=10&search=NOG.

  • Coalition for Heritable Disorders of Connective Tissue. NOG-Related Symphalangism. Retrieved from https://rarediseases.org/registry/coalition-for-heritable-disorders-of-connective-tissue/.

  • Coalition for Heritable Disorders of Connective Tissue. Other Genes for Nog-Related Symphalangism. Retrieved from https://www.ncbi.nlm.nih.gov/research/bionet.

  • Coalition for Heritable Disorders of Connective Tissue. Scientific articles related to NOG. Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/?term=NOG.

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