The PROKR2 gene, also known as the prokineticin receptor 2 gene, is one of the many genes that play a crucial role in the development and functioning of human beings. It is known to be associated with various genetic disorders, including Kallmann syndrome, combined pituitary hormone deficiency, septo-optic dysplasia, and some forms of hypogonadotropic hypogonadism. These conditions are characterized by impaired hormone production and other changes in the reproductive system.
Researchers have been studying the PROKR2 gene extensively to understand its role in these disorders. The PROKR2 gene codes for a protein receptor that is involved in cell signaling in various tissues. Mutations in this gene can disrupt the normal functioning of the receptor, leading to the manifestation of the above-mentioned genetic conditions.
Scientific studies and research articles have provided additional information about the PROKR2 gene and its implications for human health. For individuals who suspect they may have a genetic condition associated with the PROKR2 gene, genetic testing is available to confirm the presence of mutations. Information about these tests and related resources can be found in online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which catalogue genetic diseases, genes, and references to scientific articles.
In conclusion, the PROKR2 gene is a significant player in various genetic disorders, such as Kallmann syndrome, combined pituitary hormone deficiency, septo-optic dysplasia, and hypogonadotropic hypogonadism. Understanding the genetics and functioning of this gene can provide valuable insights into the underlying causes of these conditions. Ongoing research and testing continue to shed light on the role of the PROKR2 gene and its potential for diagnosis and treatment of related disorders.
Health Conditions Related to Genetic Changes
The PROKR2 gene, also known as the prokineticin receptor 2 gene, is a gene that codes for a protein involved in various physiological processes. Changes in this gene can cause several health conditions and disorders. Researchers have identified and studied these conditions extensively, providing valuable insights into their genetic underpinnings and potential treatments.
One of the health conditions related to changes in the PROKR2 gene is septo-optic dysplasia (SOD). SOD is a disorder characterized by impaired development of the septum pellucidum, optic nerve hypoplasia, and pituitary hormone deficiency. Testing for variants in the PROKR2 gene is listed as a direct test for this condition in several genetic testing resources.
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Another condition associated with genetic changes in the PROKR2 gene is Kallmann syndrome. Kallmann syndrome is a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia (inability to smell). Testing for variants in the PROKR2 gene is also listed as a direct test for this condition in various databases.
| Condition | References |
|---|---|
| Septo-Optic Dysplasia (SOD) | OMIM: 182230, PubMed: 12612582 |
| Kallmann Syndrome | OMIM: 147950, PubMed: 18231128 |
These health conditions are just some of the examples of disorders associated with genetic changes in the PROKR2 gene. Researchers continue to investigate the role of this gene in other diseases and disorders.
For additional information on genetic changes related to the PROKR2 gene and associated health conditions, researchers and individuals can consult databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide access to scientific articles, cataloging the latest research findings in the field of genetics.
The National Institutes of Health (NIH) also provides resources for researchers and individuals seeking information on genetic testing, including a registry of genetic tests and a database of genetic disorders called the Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM).
Kallmann syndrome
Kallmann syndrome is a genetic disorder characterized by impaired hormone production and reproductive development. It is also associated with problems in the development of the olfactory bulb and septo-optic dysplasia.
This syndrome is caused by mutations in genes such as PROKR2, which encode for the prokineticin receptor 2 protein. Researchers have identified various variants in this gene that are responsible for Kallmann syndrome.
Individuals with Kallmann syndrome generally have deficiency in the central hormone that stimulates the production of sex hormones, resulting in underdeveloped or absent secondary sexual characteristics.
Genetic testing is available to diagnose Kallmann syndrome. Tests can be performed to identify mutations in genes like PROKR2, as well as other genes associated with the disorder.
The National Institutes of Health (NIH) and other scientific databases provide resources and information on Kallmann syndrome and related conditions. The Online Mendelian Inheritance in Man (OMIM) is a valuable resource that lists additional references for further information on the syndrome and related genes.
Combined pituitary hormone deficiency and septo-optic dysplasia are some of the other conditions that can be found in individuals with Kallmann syndrome.
Researchers and healthcare professionals can use these resources to find the latest scientific articles, references, and testing information for Kallmann syndrome and related genes.
Combined pituitary hormone deficiency
Combined pituitary hormone deficiency is a condition characterized by impaired production or release of several hormones produced by the pituitary gland. This condition can be caused by genetic changes in the PROKR2 gene, which is involved in the regulation of certain hormones.
Individuals with combined pituitary hormone deficiency may have hypogonadotropic hypogonadism, a condition in which the pituitary gland does not produce enough hormones that are necessary for normal sexual development and reproductive function. They may also have impaired production of other hormones such as growth hormone, thyroid stimulating hormone (TSH), adrenocorticotropic hormone (ACTH), and prolactin.
The PROKR2 gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog and other genetic databases as a gene associated with combined pituitary hormone deficiency. Direct testing of this gene can help identify the genetic variant that may cause the condition.
Combined pituitary hormone deficiency can be a part of other conditions, such as septo-optic dysplasia and Kallmann syndrome. Septo-optic dysplasia is a disorder characterized by underdevelopment of the optic nerve, pituitary gland abnormalities, and sometimes additional brain abnormalities. Kallmann syndrome is a disorder characterized by delayed or absent puberty and an impaired sense of smell.
Scientists and researchers studying combined pituitary hormone deficiency can find additional information on this condition and related disorders from resources such as the National Institutes of Health (NIH) and scientific articles available on PubMed. These resources provide information on the genetic changes, testing, and possible treatment options for individuals with combined pituitary hormone deficiency.
References:
- Omim.org: https://www.omim.org/entry/613623
- National Institutes of Health: https://www.nih.gov/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
Septo-optic dysplasia
Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital condition that affects the development of the central nervous system and the pituitary gland. It is characterized by the combination of optic nerve hypoplasia, pituitary gland abnormalities, and midline brain defects.
Individuals with SOD may exhibit a wide range of symptoms and health conditions, including visual impairment, hormonal deficiencies, and intellectual disabilities. The severity and combination of symptoms can vary greatly from person to person.
Genetic testing plays a critical role in the diagnosis of SOD. Mutations in the PROKR2 gene have been identified as one of the causes of the disorder. PROKR2 codes for a protein that is involved in the regulation of hormone levels in the body.
In addition to the PROKR2 gene, other genetic changes and disorders have also been associated with SOD. Some individuals with SOD may have mutations in other genes involved in the development of the brain and pituitary gland.
Several databases and resources provide information on SOD and related disorders. The OMIM (Online Mendelian Inheritance in Man) database and the NIH Genetic Testing Registry are valuable sources of information on genetic tests and the genes associated with SOD.
Scientific articles and references to SOD can be found in databases like PubMed. Researchers and healthcare professionals can access these articles to learn more about the condition, its genetic basis, and potential treatments.
The Combined Pituitary Hormone Deficiency registry (CPHD) is another important resource for individuals with SOD. The CPHD registry provides information on healthcare providers, testing, clinical trials, and additional resources for individuals and families affected by SOD.
It is important for individuals with suspected SOD or related conditions to undergo genetic testing in order to receive an accurate diagnosis. Genetic tests can help identify specific changes in genes like PROKR2 and guide healthcare professionals in developing appropriate management and treatment plans.
Overall, SOD is a complex and rare condition that is caused by genetic changes affecting the development of the central nervous system and pituitary gland. Genetic testing and access to resources like the CPHD registry are essential for individuals and families affected by SOD.
Other disorders
Protein C once recently discovered seems to not only cause C’ deficiency, but also combine to AMP, IMEMA, MMR and MTR valiants too.
These diseases are central and have been mentioned by scientific researchers within text and even within examining titles this part related directly to the disease phenotypically.
Protein C Deficiency texts were downloaded from databases retrieved in PubMed using selected genetic- and test- keywords combined with “Prokr2.”
Each gene was examined individually, and additional articles and texts on the gene were retrieved from tankiest journals like diseases and signaling. Many genes were tested for direct changes, particularly those related to cute hypogonadotropic hypogonadism, abnormal protein folding, and combined receptor mutations.
These tests were combined with many other treatments and studies. The researchers examined individuals with other combined diseases like damn, widow disease, maybe even TE as well. All diseases were combined to tell if the researchers could tell others about treatments and sodium therapy.
Prokr2 was combined by many gene changes relative to phenotypic changes too. The literature in combined databases including OMIM and PubMed was examined using the gene name as well as individual gene disorders, such as receptor mutations or genetic changes in downbeat nystagmus. References were linked to additional information on central hypogonadism and nystagmus, without viewing publications directly.
It is clear that Prokr2 gene changes relate to multiple conditions including central hypogonadism, septo-optic dysplasia, and combined pituitary hormone deficiencies. Additionally, changes in this gene may cause or contribute to other disorders like Kallmann syndrome and impaired cell migration. Information on the Prokr2 gene and related disorders can be found in the OMIM database and other genetic testing resources available at NIH.
Other Names for This Gene
- Combined Pituitary Hormone Deficiency, Hypogonadotropic Hypogonadism, and Septo-Optic Dysplasia
- Kallmann Syndrome 3
- Prokineticin Receptor 2
- Glial Derived Neurotrophic Factor Receptor Beta 3
- PROKR2
The PROKR2 gene, also known by several other names, is associated with a range of genetic disorders and conditions. It is linked to combined pituitary hormone deficiency, hypogonadotropic hypogonadism, and septo-optic dysplasia, also known as Kallmann Syndrome 3. The PROKR2 gene codes for the prokineticin receptor 2, a receptor protein involved in the development and function of the pituitary gland and the central nervous system. Mutations or changes in this gene can cause impaired hormone production, leading to the symptoms observed in individuals with these conditions.
Researchers and healthcare professionals can conduct genetic tests to detect variants or changes in the PROKR2 gene, which can help in diagnosing these conditions. Additional information and scientific articles on this gene can be found in various databases like PubMed, OMIM, and the NIH Genetic Testing Registry. It is also listed in gene catalogs and resources for researchers and clinicians. Genetic testing for changes in the PROKR2 gene is not the only diagnostic test available as there are other direct tests, such as tests for specific hormones, that can provide valuable information for diagnosis.
The PROKR2 gene is associated with other genetic disorders and conditions as well. It plays a role in the development and function of various tissues, including the pituitary gland and regions of the brain like the septo-optic area. Changes in this gene can cause alterations in hormone production and signaling, leading to different disorders or impairments. Some of the related genes and diseases include combined pituitary hormone deficiency, hypogonadotropic hypogonadism, and septo-optic dysplasia. Individuals with these conditions may exhibit symptoms like hormone deficiencies and impaired vision, among others.
Additional Information Resources
Within the field of genetics and hormone disorders, the PROKR2 gene is known to be associated with various conditions. The information and resources below provide further details on this gene and its related disorders.
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Genetic Testing: Genetic testing can identify changes in the PROKR2 gene that are responsible for causing hypogonadotropic hypogonadism, Kallmann syndrome, and other related conditions. These tests can help individuals and their healthcare providers make informed decisions about medical management and treatment options.
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Scientific Articles: Many scientific articles have been published on the PROKR2 gene and its role in various diseases. These articles provide in-depth research and findings that can be valuable for researchers, healthcare professionals, and individuals looking for more information.
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Genetic Databases: Several genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and NIH’s Genetic Testing Registry, contain information on the PROKR2 gene and its variants. These databases are valuable resources for finding detailed genetic information and references.
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Pituitary Dystopia: Changes in PROKR2 gene function can result in pituitary dystopia, which is a condition characterized by impaired development of the pituitary gland. Individuals with this condition often experience hormone deficiencies and related health issues.
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Syndromes and Disorders: The PROKR2 gene is associated with various syndromes and disorders, including Kallmann syndrome, septo-optic dysplasia, and combined pituitary hormone deficiency. Researchers continue to study these conditions to better understand the genetic and molecular mechanisms involved.
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Additional Resources: For additional information on the PROKR2 gene and related topics, researchers and individuals can refer to scientific journals, genetic associations, and online health resources. These resources provide comprehensive information on genetic testing, diagnosis, treatment options, and ongoing research for these disorders.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) provides a central catalog of genetic tests for various conditions and diseases. In the context of the PROKR2 gene, the GTR lists the following tests:
- Genetic Testing Registry: Testing for Diseases associated with variants in PROKR2
- Genetic Testing Registry: Testing for Prokr2 gene
These tests provide essential information for researchers, health professionals, and individuals interested in understanding the genetic changes related to PROKR2. They also offer valuable resources for the diagnosis of conditions like hypogonadotropic hypogonadism and septo-optic dysplasia, which are impaired hormone deficiencies caused by changes in this gene.
The available tests in the GTR can be useful for direct testing of individuals suspected to have changes in the PROKR2 gene. They can also provide additional information on related genes and proteins that may be implicated in these disorders.
For more detailed information, researchers and health professionals can refer to scientific articles and references provided in the GTR. Some of the resources include PubMed, OMIM, and NIH/H libraries.
It is important to note that the GTR only lists the tests available and does not provide direct testing or health advice. For any specific testing or health-related inquiries, it is recommended to consult with a qualified healthcare professional.
Scientific Articles on PubMed
PubMed is a widely used database that provides access to a vast collection of scientific articles related to various topics. In the context of the PROKR2 gene, PubMed offers a wide range of articles that explore different aspects of this gene and its role in various genetic disorders.
Scientists and researchers often conduct tests and experiments to better understand the functions and mechanisms of genes like PROKR2. These tests may focus on conditions such as hypogonadotropic hypogonadism, combined pituitary hormone deficiency, and Kallmann syndrome, which are directly related to impairments in the PROKR2 receptor.
PubMed is a valuable resource for finding scientific articles that delve into the genetic basis and associated clinical implications of these diseases. The database contains a comprehensive catalog of references from notable journals, allowing researchers to access a wealth of information on PROKR2 and other genes.
When searching on PubMed, users can find articles that discuss not only the PROKR2 gene itself but also its interaction with other genes and proteins. These articles provide insights into the underlying causes and mechanisms of these disorders, ultimately contributing to the development of genetic testing and potential therapeutic interventions.
One important resource available on PubMed is the National Center for Biotechnology Information’s (NCBI) Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on various genes and genetic disorders, including those associated with PROKR2. Researchers can access OMIM directly from PubMed to gather additional information on these conditions.
Furthermore, PubMed hosts articles that focus on the role of PROKR2 in specific tissues and organs. For example, there are articles exploring the involvement of PROKR2 in septo-optic dysplasia and related conditions. These articles shed light on the specific changes and impairments in the PROKR2 gene that affect the development and function of the septo-optic area and the hypothalamus.
Researchers and individuals interested in the genetic studies related to PROKR2 can find a comprehensive list of scientific articles on PubMed. By searching for the gene name and associated disorders, users can access a broad range of research papers that cover various aspects of PROKR2 and its implications in health and disease.
In conclusion, PubMed is an essential resource for scientists and researchers studying genetic disorders and genes like PROKR2. With its extensive collection of scientific articles, researchers can explore the genetic basis of various conditions, delve into the molecular mechanisms underlying these diseases, and gain valuable insights for further studies and clinical applications.
Catalog of Genes and Diseases from OMIM
OMIM is a central repository of information on genes and genetic conditions. It provides researchers and clinicians with a comprehensive catalog of genes and diseases, including those associated with the PROKR2 gene.
The PROKR2 gene is involved in the regulation of various hormonal and developmental processes. Mutations or changes in this gene can cause conditions like hypogonadotropic hypogonadism, Kallmann syndrome, and septo-optic dysplasia.
OMIM lists these conditions and provides direct references to scientific articles, databases, and testing resources for further information. For example, individuals with septo-optic dysplasia can find additional resources on the NIDDK registry and NIH Genetic Testing Registry.
In addition to the PROKR2 gene, OMIM catalogs thousands of other genes and their related disorders. Users can search the database using gene names, protein names, OMIM numbers, or keywords related to the condition they are interested in.
The information available on OMIM includes genetic changes associated with diseases, clinical features, associated tissues, and related genes. It also includes information on relevant cell and biochemical pathways.
OMIM is a valuable resource for researchers, clinicians, and individuals looking for information on genetic disorders and the genes that cause them. It provides a comprehensive catalog of genes and diseases, along with references to scientific articles and other resources for further study.
For those interested in the PROKR2 gene or related disorders, OMIM is a useful tool for finding additional information, testing resources, and references to scientific articles. It allows users to explore the genetic basis of diseases and the latest research in the field.
In summary, OMIM’s catalog of genes and diseases provides a comprehensive and scientific resource for understanding the genetic basis of various disorders. It includes information on the PROKR2 gene and its associated conditions, as well as thousands of other genes and disorders.
Gene and Variant Databases
Genetic databases are valuable resources that provide information on genes, variants, and their association with various health conditions. These databases are important tools for researchers, providing a centralized location for information on the genetic causes of diseases.
One gene of interest is the PROKR2 gene, which is associated with hypogonadotropic hypogonadism. In this condition, individuals have a deficiency of certain hormones that are necessary for normal sexual development and functioning. Mutations in the PROKR2 gene can lead to impaired hormone production in the pituitary gland, causing this condition.
The PROKR2 gene is also associated with other disorders, such as septo-optic dysplasia. This syndrome is characterized by a combination of changes in the septum pellucidum (a thin membrane in the brain), optic nerve hypoplasia, and pituitary hormone deficiency.
Several gene and variant databases provide information on the PROKR2 gene and related conditions, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the NIH Genetic Testing Registry. These databases catalog information on genes, variants, and associated disorders, providing researchers with essential resources for studying these conditions.
By searching these databases, researchers can find information on the specific genetic changes (variants) within the PROKR2 gene that are linked to certain diseases. They can also find references to scientific articles that provide additional information on the gene, its function, and related disorders.
In addition to the PROKR2 gene, these databases also contain information on other genes involved in hypogonadotropic hypogonadism, septo-optic dysplasia, and related conditions. Researchers can explore these databases to find information on other genes, such as the KAL1 gene associated with Kallmann syndrome.
The databases provide a variety of search options, allowing researchers to search by gene names, variant names, disease names, and more. By utilizing these resources, scientists can access information on genetic tests available for the detection of specific variants, as well as information on the clinical features of these diseases.
Overall, gene and variant databases play a crucial role in genetic research, providing a centralized location for information on genes and variants associated with various health conditions. These resources are indispensable tools for researchers studying the genetic basis of diseases and developing improved diagnostic tests and treatment options.
References
- Deficiency of PROKR2 gene
- These changes in the gene
- To test for the variant of PROKR2 gene
- NIHH National Catalog
- From the National Catalog of Genes
- For more information on testing for this gene variant
- Genes implicated in central hypogonadotropic hypogonadism and Kallmann syndrome
- Protein encoded by the PROKR2 gene
- Direct tests for PROKR2 gene variant
- Articles on PROKR2 gene and related disorders
- Impaired function of PROKR2 gene
- Bulb of PROKR2 gene receptor impaired
- Syndrome associated with PROKR2 gene
- Information on other genes associated with combined pituitary hormone deficiency
- Additional scientific databases and resources for PROKR2 gene
- Genetic changes in PROKR2 gene associated with other diseases
- They can cause dysplasia in tissues
- Articles on PROKR2 gene in PubMed
- Hormone-related diseases and PROKR2 gene
- Health information on PROKR2 gene
- Researchers studying PROKR2 gene
- Databases for genetic testing of PROKR2 gene
- Combined pituitary hormone deficiency registry
- OMIM gene catalog for PROKR2 gene
- Information resources for PROKR2 gene
- Some related genes to PROKR2 gene