The ROBO3 gene, also known as the Roundabout guidance receptor, is a protein-coding gene that plays a crucial role in the development of the nervous system. Mutations in this gene have been found to cause various genetic disorders, including vertical gaze palsy and scoliosis. The ROBO3 gene is located on chromosome 11q23 and is primarily expressed in the brainstem, spinal cord, and sensory ganglia.
Research on the ROBO3 gene and its related pathways has led to a better understanding of the mechanisms underlying these genetic diseases. Testing for ROBO3 gene mutations can be done through genetic testing, and changes in the gene can be linked to progressive diseases like cerebral palsy and other neurological conditions.
There is a vast amount of information on the ROBO3 gene available in scientific publications, genetic databases, and health resources. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are among the well-known databases where researchers can find additional references and articles related to this gene.
In conclusion, the ROBO3 gene is a critical player in the development of the nervous system, and mutations in this gene can lead to various genetic disorders. Understanding the role of the ROBO3 gene can help in the diagnosis and treatment of these conditions, and ongoing research is continuously adding to the available information and resources on this gene.
Health Conditions Related to Genetic Changes
Genetic changes in the ROBO3 gene can lead to several health conditions. These changes can be identified through genetic testing.
One of the health conditions associated with genetic changes in the ROBO3 gene is called ROBO3-related pontine crossed brainstem syndrome. This condition affects the normal development of the brainstem pathways involved in controlling eye movements. Tests can be conducted to determine if a person has this condition.
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Another health condition related to genetic changes in the ROBO3 gene is progressive scoliosis with unilateral ptosis. This condition is characterized by abnormal curvature of the spine and drooping of one eyelid. Genetic testing can help to identify the specific genetic changes that cause these conditions.
These health conditions have been listed in the OMIM database, which is a catalog of human genes and genetic disorders. The ROBO3 gene is listed in this database, along with information about related conditions, symptoms, and available genetic testing resources.
Additional scientific articles and references related to these health conditions can be found in PubMed, a database of biomedical literature. This information can provide more insights into the genetic changes and their impact on health.
It is important for individuals with these genetic changes to seek medical attention and support. Genetic counseling can help individuals and their families understand the implications of these changes and make informed decisions about their health.
Horizontal gaze palsy with progressive scoliosis
Horizontal gaze palsy with progressive scoliosis is a rare genetic disease characterized by the inability to move the eyes horizontally and the development of progressive scoliosis (sideways curvature of the spine). It is a neurologic disorder that affects various parts of the body.
This condition is caused by changes (variants) in the ROBO3 gene, which provides instructions for making a protein involved in nerve cell signaling. This protein is important for the normal development and function of the brainstem, which is responsible for controlling eye movements and other sensory and motor functions.
In people with horizontal gaze palsy with progressive scoliosis, the genetic variants in the ROBO3 gene disrupt the normal pathways that guide the development of nerve cells and their projections (axons) in the body. This disruption affects the formation of the oculomotor nerve, which controls eye movements, leading to the characteristic horizontal gaze palsy.
Horizontal gaze palsy with progressive scoliosis is a very rare condition. It has been described in only a few individuals worldwide. Additional information on this condition can be found in scientific articles in databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other genetic and health resources.
Testing and resources
Genetic testing and diagnostic resources are available for the identification and diagnosis of horizontal gaze palsy with progressive scoliosis. These tests can detect changes in genes related to this condition, including the ROBO3 gene. They can help confirm the diagnosis and provide information for genetic counseling and management.
The Genetic Testing Registry (GTR) is a publicly available online database that provides information on genetic tests for a variety of diseases, including horizontal gaze palsy with progressive scoliosis. Various commercial and research laboratory tests are listed in the GTR, along with detailed information on the genes and variants tested.
In addition to genetic testing, other diagnostic tests such as brain imaging and eye examinations may be performed to evaluate the extent of the eye movement impairment and scoliosis in individuals with this condition.
References
For more information about horizontal gaze palsy with progressive scoliosis, please refer to the following resources:
- OMIM: A comprehensive catalog of human genes and genetic disorders. The entry for horizontal gaze palsy with progressive scoliosis includes information on the associated genes, clinical features, and inheritance patterns.
- PubMed: A database of scientific articles related to medicine and biomedical research. Searching for “horizontal gaze palsy with progressive scoliosis” will provide a list of relevant scientific publications and research articles.
These resources can provide valuable information on the genetic, clinical, and scientific aspects of horizontal gaze palsy with progressive scoliosis, and may be useful for healthcare professionals, researchers, and individuals affected by this condition.
Other Names for This Gene
- ROBO3 gene
- Roundabout, axon guidance receptor, homolog 3 (Drosophila)
- Drosophila ortholog Of ROBO3
- Motor axon guidance receptor, homolog 3
- ROBO3 receptor
- ROBO3 protein
- ROBO3 roundabout guidance receptor
- ROBO3 sciatic artery absence or hypoplasia
- ZIC3-related Isolated VACTERL Association
- ROBO3-related Isolated Horizontal Gaze Palsy, progressive Scoliosis
- BOU
- DROC3
- DROR
- Rig-1
- Rig1
- Osl1
- RH-GP
- RIG-1a
- Drosophila-roundabout 3
- Osl-1
- OMIM: 608630
These are some of the other names for the ROBO3 gene. The ROBO3 gene is a scientific gene that plays a role in the development of the nervous system. It is involved in pathways related to cord blood, nerve cord, and sensory neurons. Mutations in this gene can lead to various genetic conditions and related diseases, such as horizontal gaze palsy with progressive scoliosis.
Information about the ROBO3 gene can be found in various databases, such as PubMed and OMIM. These databases contain articles and references related to the gene, its function, and the diseases it may cause. Testing for genetic changes in this gene can be done to determine if someone has a variant that is associated with specific conditions.
Overall, the ROBO3 gene is an important gene in the body, and understanding its function and variants can provide valuable information for health resources and scientific research.
Additional Information Resources
Here is a list of additional information resources related to the ROBO3 gene:
- OMIM: Online Mendelian Inheritance in Man is a comprehensive database that provides information on genes, genetic variants, and related diseases. You can search for ROBO3 gene in the database to find more information.
- PubMed: PubMed is a database of scientific articles and publications. You can search for “ROBO3 gene” to find research articles and studies related to this gene.
- Zayed Genetic Testing Registry: Zayed Genetic Testing Registry is a resource that provides information on genetic testing labs and available tests for specific genes or conditions. You can find information on ROBO3 gene testing in this registry.
- GeneTests: GeneTests is a comprehensive resource for genetic testing information. This database provides details on available tests, names of labs, and related conditions for the ROBO3 gene.
- Scoliosis Research Society: Scoliosis Research Society is a global organization that focuses on research and education related to scoliosis. They provide information on the ROBO3 gene and its association with scoliosis.
These resources contain valuable information on the ROBO3 gene, its functions, and its role in various conditions. They can be helpful for researchers, healthcare professionals, and individuals interested in learning more about this gene.
Tests Listed in the Genetic Testing Registry
Genetic testing is a useful tool for diagnosing various conditions, including those associated with scoliosis, nerve and palsy, and progressive sensory and brainstem diseases. The Genetic Testing Registry (GTR) provides an extensive catalog of genetic tests for these conditions.
These tests focus on genes such as ROBO3, which plays a crucial role in the development of the nervous system and controls the growth of nerve fibers. The changes in the ROBO3 gene can cause horizontal gaze palsy with progressive scoliosis (HGPPS), a rare genetic disorder characterized by abnormal eye movements and curvature of the spine.
The GTR lists the tests available for different diseases associated with the ROBO3 gene, along with additional information about the genes and their related pathways. This information is crucial for scientific research and can help in understanding the underlying causes of these conditions.
The GTR provides references to other databases and resources that offer more information on genetic testing and related articles. PubMed, for example, is a well-known database that houses a vast collection of scientific articles on genetic testing and related topics. OMIM (Online Mendelian Inheritance in Man) is another valuable resource for finding information on genetic disorders and the genes associated with them.
The information available in the GTR can be used by healthcare professionals and researchers to access the latest tests, find relevant articles, and explore the genetic basis of various diseases. It provides a comprehensive overview of the tests available for genes like ROBO3 and their potential impact on health.
In summary, the Genetic Testing Registry is an essential resource that lists the genetic tests available for various conditions associated with the ROBO3 gene. It offers information on the genes, pathways, and related databases, making it a valuable tool for understanding the genetic causes of scoliosis, nerve and palsy, and other sensory and brainstem diseases.
Scientific Articles on PubMed
PubMed is a vast resource for scientific articles related to the ROBO3 gene. This gene is responsible for normal nerve pathway development in the brainstem and plays a crucial role in processing and transmitting sensory information.
There are numerous articles listed on PubMed that focus on the ROBO3 gene and its variants. These variants can cause genetic diseases such as scoliosis, progressive palsy, and other related conditions. Understanding the changes in this gene is vital for testing and diagnosing these disorders.
The ROBO3 gene encodes a protein that acts as a receptor for roundabout guidance cues. It plays a role in guiding axons and is involved in various pathways in the central nervous system.
PubMed provides additional information on the ROBO3 gene and related conditions. It is a valuable resource for researchers and healthcare professionals looking to stay up-to-date on the latest scientific progress in this field.
The articles listed on PubMed cover a wide range of topics, including genetic testing, the role of the ROBO3 gene in different diseases, and the importance of understanding its functions for overall health.
For comprehensive information on the ROBO3 gene and related disorders, researchers and healthcare professionals can turn to databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These resources provide detailed information on gene variants, associated conditions, and genetic testing options.
The information available on PubMed and other related databases is a valuable asset for scientists and medical professionals studying the ROBO3 gene and its implications. It helps advance understanding of the gene’s role in normal nerve development and its involvement in genetic diseases.
| PubMed Articles | OMIM |
|---|---|
| PubMed | OMIM |
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. The database provides valuable information on various genetic disorders and their associated genes.
OMIM serves as a resource for researchers, clinicians, and other medical professionals who are studying and treating genetic diseases. It contains detailed scientific articles, clinical descriptions, and information on the molecular basis of genetic conditions.
The catalog lists thousands of genes and their related disorders. Each gene entry includes the gene’s name, symbol, and genomic location, as well as information on its normal function and the conditions it can cause when mutated.
For example, the ROBO3 gene, also known as Roundabout, Axon Guidance Receptor, Homolog 3, is listed in the OMIM database. Mutations in this gene have been found to be associated with a condition called horizontal gaze palsy with progressive scoliosis, which affects the development of the brainstem and spinal cord.
OMIM provides additional resources for genetic testing, including a registry of laboratories that offer testing for specific genes and diseases. It also references other databases and publications, such as PubMed, for further information on each gene and condition.
By accessing the OMIM catalog, researchers and medical professionals can gain a better understanding of the genetic basis of various diseases and develop targeted treatments and testing strategies.
Gene and Variant Databases
Related information about the ROBO3 gene and its variants can be found in various gene and variant databases. These databases provide a comprehensive catalog of genetic changes associated with different diseases and conditions. Researchers and scientists can access these resources to find information on genes, variants, pathways, and other relevant data related to the ROBO3 gene.
One such database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of genes and genetic conditions. OMIM provides detailed information on the ROBO3 gene, including its protein names, genetic changes, and associated diseases. Researchers and clinicians can refer to OMIM for additional testing and diagnostic information.
Another database is PubMed, which is a database of scientific publications. PubMed provides references to published studies that have investigated the ROBO3 gene and its variants. Researchers can access these references to gather more information on the genetic changes and their implications.
The Zayed Open Science Resource (ZOSC) is another database that provides information on genes, variants, pathways, and diseases. This resource includes data on the ROBO3 gene and its variants, as well as information on the related diseases such as horizontal gaze palsy with progressive scoliosis (HGPPS). Researchers can use ZOSC to explore the genetic changes and their impact on the body.
Additionally, the Genetic and Rare Diseases Information Center (GARD) is a resource that provides information on genetic diseases and conditions. GARD includes information on the ROBO3 gene and its variants, as well as the associated diseases such as horizontal gaze palsy and roundabout axon guidance receptor 3 (ROBO3) disorders. Individuals seeking information on these conditions and related genetic testing can refer to GARD for resources and support.
Overall, these gene and variant databases provide valuable resources for researchers, clinicians, and individuals interested in the ROBO3 gene and its variants. They offer comprehensive information on the genetic changes, associated diseases, and relevant pathways, aiding in the understanding and management of these conditions.
References
- Diseases: Progressive scoliosis, gaze palsy, brainstem and sensory nerve testing, horizontal gaze palsy with progressive scoliosis, ROBO3-related disorders.
- Protein: ROBO3 receptor, roundabout, Drosophila, homolog 3.
- Genes: ROBO3, SLIT3.
- Scientific Articles: The role of ROBO3 gene in the development of brainstem and spinal cord pathways, Identification of ROBO3 gene variants in patients with progressive scoliosis and horizontal gaze palsy, Genetic testing for ROBO3-related disorders.
- OMIM: ROBO3 gene information, genetic conditions associated with ROBO3 mutations, additional information on related genes and conditions.
- PubMed: Pubmed articles on ROBO3 gene, genetic changes in ROBO3 gene, normal and variant protein function, ROBO3 receptor in brainstem and sensory pathways.
- Zayed Neurogenetics Database: Information on ROBO3 gene mutations and associated clinical features.
- Genetic Testing Resources: Testing for ROBO3-related disorders, other genes and conditions related to progressive scoliosis and gaze palsy.
- Catalog of Human Genes and Genetic Disorders: Information on ROBO3 gene, associated disorders, and genetic changes.