ROR2 gene

The ROR2 gene is a member of the receptor tyrosine kinase (RTK) family, which plays a crucial role in the development and maintenance of cells. This gene is responsible for encoding the ROR2 receptor, also known as tyrosine protein kinase transmembrane receptor ROR2.

Changes, or variants, in the ROR2 gene can lead to the development of various disorders and syndromes, including Robinow syndrome. Robinow syndrome is an autosomal recessive disorder that affects the development of bones and tissues, resulting in distinct facial features and abnormalities of the hands and feet.

Genetic testing, including DNA sequencing, can be used to identify variants in the ROR2 gene and diagnose related conditions. There are several resources available for genetic testing, such as the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic disorders and associated genes.

Additionally, the PubMed database contains numerous scientific articles related to the ROR2 gene and its role in various health conditions. The Genetic Testing Registry (GTR) is another important resource that provides information on available genetic tests for the ROR2 gene and related conditions.

In conclusion, the ROR2 gene is a crucial component involved in cell development and maintenance. Variants in this gene can lead to the development of various disorders and syndromes, including Robinow syndrome. Genetic testing, using resources such as OMIM, PubMed, and GTR, can be used to identify changes in the ROR2 gene and diagnose related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ROR2 gene have been associated with various health conditions. The ROR2 gene encodes a receptor tyrosine kinase (RTK) that plays a critical role in cell signaling.

One of the health conditions related to genetic changes in the ROR2 gene is Robinow syndrome. Robinow syndrome is a rare genetic disorder characterized by skeletal abnormalities, such as short stature, short fingers and toes, and facial features including a flat face and wide-set eyes. Mutations in the ROR2 gene are associated with both autosomal recessive and autosomal dominant forms of Robinow syndrome.

Other genetic changes in the ROR2 gene have been identified in various disorders. These include syndromes like recessive Robinow syndrome, which is characterized by skeletal abnormalities, and recessive brachydactyly type B, which affects the development of fingers and toes. The exact role of these genetic changes in the development of these disorders is still being studied.

To gather information about genetic changes in the ROR2 gene and their association with health conditions, various resources and databases can be used. One such resource is OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders. OMIM provides information on the genetic changes associated with different health conditions.

PubMed, a scientific database, also contains articles and research papers related to the ROR2 gene and its role in various health conditions. These articles can provide additional information on the genetic changes and their impact on cellular functions. Additionally, genetic testing can be performed to identify specific variants in the ROR2 gene and their association with certain health conditions.

The information from these resources, including OMIM, PubMed, and genetic testing, can help in understanding the relationship between genetic changes in the ROR2 gene and the development of certain health conditions. It is important to consult medical professionals and genetic experts for accurate diagnosis, interpretation, and management of these genetic disorders.

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Robinow syndrome

Robinow syndrome is a rare genetic disorder, for which scientific information is derived from testing the ROR2 gene. It is a condition that affects various parts of the body, leading to distinct physical features and health problems.

Robinow syndrome is also called “fetal face syndrome” or “fetal face-disorder”. It is named after the scientist who first described the condition, Meinhard Robinow.

The syndrome is characterized by abnormalities in the skeletal system, such as short stature, shortening of the long bones, and spinal abnormalities. The face also presents distinct features, including a flat nasal bridge, wide-set eyes, and a small jaw.

Robinow syndrome is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the non-working gene, one from each parent, to develop the disorder. The ROR2 gene, located on chromosome 9, is associated with this condition.

Testing the ROR2 gene can help diagnose Robinow syndrome. Genetic testing can identify changes or variants in the gene that are responsible for the condition. These tests are usually recommended when an individual presents with the characteristic physical features and skeletal abnormalities.

In addition to the ROR2 gene, there may be other genes or genetic changes related to Robinow syndrome that are yet to be discovered or fully understood.

For more information on Robinow syndrome and related conditions, the following resources and databases can be helpful:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders, including Robinow syndrome.
  • Pubmed: A database of scientific articles and references, which provides additional information on Robinow syndrome and related topics.
  • GeneTests: A registry of genetic tests for various conditions, including those related to Robinow syndrome.
  • RTKs: Receptor Tyrosine Kinases, a family of proteins that play a role in cell signaling. Changes in these genes may be related to Robinow syndrome.

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, appropriate management, and support for individuals with Robinow syndrome or other related disorders.

Other disorders

ROR2 gene mutations have been implicated in a variety of other disorders besides Robinow syndrome.

One condition related to ROR2 gene changes is called recessive Robinow syndrome, which shares some similar features with the dominant form of the disorder but is typically more severe.

In addition to the Robinow syndrome, the ROR2 gene has also been associated with other genetic disorders. Some of these conditions include:

  • Brachydactyly type B1: This genetic disorder affects the development of the fingers and toes, causing shortened digits.
  • PTHSLD: Known as parathyroid hormone-related hypoplasia with sensorineural deafness and renal dysplasia, this condition is characterized by hearing loss and kidney problems.
  • Trisomy 18: Also known as Edwards syndrome, this condition is caused by an extra copy of chromosome 18 and can result in severe developmental problems.
  • COACH syndrome: This disorder causes cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.
  • Sporadic colorectal cancer: Some studies have shown that ROR2 gene mutations may contribute to the development of sporadic colorectal cancer, although more research is needed to establish a definitive link.
See Also:  EMG1 gene

To learn more about these and other disorders related to ROR2 gene mutations, additional resources such as scientific articles, databases, and registries can provide valuable information. OMIM (Online Mendelian Inheritance in Man) and PubMed are two commonly used databases for accessing genetic and medical literature. Genetic testing for ROR2 gene mutations can also be performed to confirm a diagnosis or to provide more information about an individual’s genetic makeup.

It is important for individuals and families affected by these disorders to seek appropriate medical care and support. Healthcare professionals can provide guidance, treatment options, and access to resources to help manage the symptoms and challenges associated with these conditions.

Other Names for This Gene

The ROR2 gene is also known by several other names:

  • Robinow syndrome-like 1 (autosomal recessive)
  • ORPK
  • NBTS
  • BDB1
  • SDBH
  • ROR2H
  • jtk11

These names are used to refer to the ROR2 gene in various scientific articles and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The gene has been associated with several conditions and disorders, including Robinow syndrome, a rare genetic disorder characterized by distinct facial features, skeletal abnormalities, and other health problems.

Due to its role in normal cell development and signaling, changes in the ROR2 gene can lead to various genetic diseases and conditions. Genetic testing for variants in this gene is often performed to aid in the diagnosis of Robinow syndrome and other related disorders.

Additional information about the ROR2 gene, including its function and related disorders, can be found in scientific articles and resources such as the OMIM and PubMed databases.

References:

  1. “ROR2 gene.” Online Mendelian Inheritance in Man. Retrieved from https://omim.org/entry/602337
  2. “ROR2 receptor tyrosine kinase.” PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=ROR2+receptor+tyrosine+kinase
  3. “ROR2 gene.” Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/ROR2
  4. “ROR2 gene.” Catalog of Genes and Diseases. Retrieved from https://www.ncbi.nlm.nih.gov/gene/4920

Additional Information Resources

For more information on the ROR2 gene and related conditions, the following resources may be helpful:

  • OMIM: OMIM is a catalog of human genes and genetic disorders. It provides comprehensive information on the function, inheritance, clinical features, and associated genes for various diseases. The entry for the ROR2 gene can be found on OMIM, along with references to scientific articles. Access OMIM at https://www.omim.org/.
  • Robinow Syndrome Registry: The Robinow Syndrome Registry is a registry for individuals with Robinow syndrome and related conditions. It aims to collect and maintain information on the genetics, clinical features, and treatment of Robinow syndrome. To find out more about the registry, visit their website http://www.robinow.org/.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and health. It can be used to search for publications related to the ROR2 gene, Robinow syndrome, and other related conditions. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Genetic Testing: Genetic testing can be performed to identify changes in the ROR2 gene and other related genes. These tests can help diagnose Robinow syndrome and other related conditions. Consult a healthcare professional or genetic counselor for more information on genetic testing options.

These resources provide valuable information on the ROR2 gene, its role in various conditions, and the available tests for detecting genetic changes associated with these conditions. They can be useful for both healthcare professionals and individuals seeking more information on this topic.

Tests Listed in the Genetic Testing Registry

The ROR2 gene, also known as Robinow syndromes, is one of the genes associated with genetic disorders. This gene plays a significant role in normal cell development and functions as a receptor for a group of proteins called RTKs (Receptor Tyrosine Kinases).

Tests listed in the Genetic Testing Registry include various genetic tests related to the ROR2 gene and its variants. These tests are essential for identifying changes or mutations in the ROR2 gene that may lead to Robinow syndrome or other related conditions.

Pubmed and other scientific databases provide valuable references and articles on the role of the ROR2 gene in cell development and related disorders. Additionally, resources such as OMIM (Online Mendelian Inheritance in Man) catalog information about the ROR2 gene and its associated conditions.

These tests listed in the registry are designed to identify specific changes or variants in the ROR2 gene that are responsible for the development of Robinow syndrome or other related conditions. The tests may involve analyzing the DNA of cells from an individual’s blood or other tissues.

Tests for the ROR2 gene may involve sequencing the entire gene or specific regions of the gene known to be associated with the condition. Additionally, further testing may be conducted to assess the function or expression of the ROR2 gene in cells.

These genetic tests provide critical information for diagnosis, prognosis, and treatment planning for individuals with Robinow syndrome or related conditions. They help healthcare professionals identify the specific genetic changes or variants responsible for the condition and offer additional resources for managing the disease.

It is important to note that these tests listed in the Genetic Testing Registry may not be available for all individuals or in all healthcare settings. Therefore, individuals interested in genetic testing should consult with a healthcare provider or genetic counselor to determine the availability and appropriateness of these tests for their specific situation.

References:

  1. Robinow Syndrome – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/robinow-syndrome#genes
  2. ROR2 gene – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/ROR2
  3. Genetic Testing Registry: ROR2. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/?term=ROR2
See Also:  CIITA gene

Scientific Articles on PubMed

The ROR2 gene is associated with a syndrome called Robinow syndrome. This syndrome is characterized by a variety of physical features and can be caused by mutations in different genes. However, mutations in the ROR2 gene are one of the known genetic causes of the syndrome.

To diagnose the condition, genetic testing can be performed to look for changes or variants in the ROR2 gene. These tests can be conducted using various methods such as sequencing or targeted testing.

References to scientific articles on PubMed related to the ROR2 gene and its role in Robinow syndrome can provide additional information and resources for genetic health professionals. Scientific articles can be found using databases such as PubMed, OMIM, or the Robinow Syndrome Registry.

One of the articles found in PubMed is titled “Role of ROR2 in Receptor Tyrosine Kinase Signaling” which provides information about the role of the ROR2 gene in cell signaling pathways. Another article titled “Genetic testing for Robinow Syndrome” discusses the genetic testing approaches and recommendations for individuals suspected to have the syndrome.

These scientific articles are valuable resources for understanding the ROR2 gene, its related disorders, and the conditions it is associated with. They provide insights into the normal function of the gene, the changes or variants that can lead to the syndrome, and the potential implications for diagnosis and management of affected individuals.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a scientific database that provides information related to genes and genetic disorders. It serves as a valuable resource for researchers and healthcare professionals by cataloging genes and diseases, allowing for better understanding and testing of various genetic conditions.

One gene that is listed in the OMIM catalog is the ROR2 gene. ROR2, or receptor tyrosine kinase-like orphan receptor 2, is a gene that plays a role in the development of cells and tissues in the body. Changes or variants in the ROR2 gene have been associated with a condition called Robinow syndrome, a genetic disorder characterized by distinctive facial features and abnormalities in the skeletal system.

The OMIM catalog provides additional information on genes and diseases beyond just the ROR2 gene. It contains a comprehensive list of genes, testing resources, and references to scientific articles and databases like PubMed. This allows researchers and healthcare professionals to access additional information and stay up to date on the latest research and discoveries in the field.

In addition to genes, the OMIM catalog also lists various genetic disorders and conditions. These include not only well-known disorders like Robinow syndrome but also lesser-known conditions. The catalog provides detailed information on the symptoms, inheritance patterns, and available testing for each condition, making it a valuable resource for healthcare professionals and individuals seeking more information about specific genetic disorders.

The OMIM catalog is organized in a user-friendly manner, with genes and diseases listed in alphabetical order. Each entry includes relevant information such as synonyms or alternative names for the gene or condition, the mode of inheritance, and references to scientific articles and resources for further reading.

Overall, the OMIM catalog serves as a comprehensive resource for researchers, healthcare professionals, and individuals seeking information on genes and genetic disorders. It plays a crucial role in the understanding, testing, and management of various genetic conditions, providing essential information that can contribute to improved healthcare outcomes for affected individuals.

Gene and Variant Databases

Gene and variant databases are repositories of information about genes, variants, and their clinical significance. These databases play a crucial role in the field of genetics and genomics, providing valuable resources for researchers, clinicians, and individuals interested in genetic health.

There are several gene and variant databases available, each with its own unique focus and collection of information. Some of the most well-known databases include:

  • The Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genes and genetic disorders. It provides detailed information about the role of genes in specific conditions, as well as references to scientific articles and other resources.
  • PubMed: PubMed is a database of scientific articles from various fields, including genetics. It can be used to find research articles related to specific genes, variants, or conditions.
  • The Human Gene Mutation Database (HGMD): HGMD provides information about mutations and their associated diseases. It includes data from both research articles and clinical testing.
  • The Robinow Syndrome Variants Registry (RSVR): RSVR is a specialized database focused on the genetic changes associated with Robinow syndrome, a rare genetic disorder. It lists variants in the ROR2 gene and provides additional information about affected individuals.

These databases are valuable resources for genetic testing and research. Clinicians can use them to identify genetic variants associated with specific diseases or conditions, while researchers can use them to study the role of genes and variants in normal and abnormal cell function.

Overall, gene and variant databases provide a wealth of information about genes, variants, and their implications for health. They are essential tools for understanding the genetic basis of diseases and disorders and for developing new tests and treatments.

References

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