The NPHS2 gene, also known as podocin, is a gene that is associated with the development of nephrotic syndrome, a kidney disorder characterized by the presence of excess protein in the urine. This gene is listed on the Online Mendelian Inheritance in Man (OMIM) registry and its association with nephrotic syndrome has been extensively studied in scientific articles listed on PubMed.
The NPHS2 gene is specifically expressed in the renal podocyte, a specialized cell of the kidney that plays a crucial role in maintaining the filtration barrier. Changes or mutations in the NPHS2 gene can cause various forms of nephrotic syndrome, including the steroid-resistant variant. Mutations in this gene disrupt the formation and function of the podocyte foot processes and the filtration diaphragm, leading to proteinuria and other symptoms of nephrotic syndrome.
Genetic testing for mutations in the NPHS2 gene is available and can be used to confirm a diagnosis of nephrotic syndrome. Various resources and databases, such as the Catalogue for Transmission Genetics in Humans (CTGA), provide information on the genetic changes associated with this gene and related disorders. Additional references and information on genetic diseases and congenital nephrotic syndrome can be found in scientific articles and medical journals.
In summary, the NPHS2 gene, or podocin, is a crucial gene involved in the development of nephrotic syndrome. Mutations in this gene can lead to the development of various forms of nephrotic syndrome, including the steroid-resistant variant. Genetic testing and resources such as CTGA are available to aid in the diagnosis and understanding of this genetic disorder.
Health Conditions Related to Genetic Changes
Steroid-resistant nephrotic syndrome (SRNS) is a condition characterized by the inability of the kidneys to properly filter blood, leading to the loss of proteins in the urine. This condition is often caused by genetic changes in the NPHS2 gene. The NPHS2 gene provides instructions for making a protein called podocin, which is found in the specialized cells of the kidney called podocytes.
Genetic changes in the NPHS2 gene can disrupt the production or function of podocin, leading to the development of SRNS. These changes can include variants that alter the structure or function of the protein, or they can affect the regulation of gene expression.
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To identify genetic changes associated with SRNS, scientists use a variety of resources and databases. PubMed, a scientific database, is often used to find articles and references related to genetic changes in the NPHS2 gene. The Online Mendelian Inheritance in Man (OMIM) database provides information on known genetic disorders, including those related to the NPHS2 gene.
In addition to these databases, there are also registries and catalogs specifically focused on genetic changes in the NPHS2 gene and related health conditions. The Nephrotic Syndrome Study Network (NEPTUNE) and the Nephrotic Syndrome Registry (NSR) are examples of such resources, providing information and additional testing options for individuals with SRNS or related genetic changes.
Health conditions related to genetic changes in the NPHS2 gene can include congenital nephrotic syndrome, focal segmental glomerulosclerosis, and other forms of nephrotic syndrome. These conditions can cause a range of symptoms, including proteinuria (protein in the urine), edema (swelling), and high blood pressure.
Diagnosing these conditions often involves genetic testing to identify changes in the NPHS2 gene or other genes related to podocyte function. Other tests, such as kidney biopsies and urine analysis, may also be used to assess kidney function and determine the underlying cause of the symptoms.
| Condition | Description |
|---|---|
| Congenital nephrotic syndrome | A type of nephrotic syndrome that is present at birth, often caused by genetic changes in the NPHS2 gene. |
| Focal segmental glomerulosclerosis (FSGS) | A condition in which scar tissue forms in the kidneys, causing damage and loss of kidney function. |
| Other forms of nephrotic syndrome | Various other types of nephrotic syndrome that can be caused by genetic changes in the NPHS2 gene or other genes related to podocyte function. |
It is important for individuals with symptoms of nephrotic syndrome or other related health conditions to seek medical evaluation and testing. Genetic changes in the NPHS2 gene and related genes can have significant implications for the diagnosis, treatment, and management of these disorders.
References:
- PubMed: www.ncbi.nlm.nih.gov/pubmed
- OMIM: www.omim.org
- Nephrotic Syndrome Study Network (NEPTUNE): www.neptune-study.org
- Nephrotic Syndrome Registry (NSR): www.nephroticsyndromestudy.org
Congenital nephrotic syndrome
Congenital nephrotic syndrome is a group of genetic disorders that cause renal dysfunction and is often steroid-resistant. One of the genetic conditions associated with congenital nephrotic syndrome is related to changes in the NPHS2 gene, which encodes the protein podocin.
In the OMIM and other health databases, congenital nephrotic syndrome is listed under various names, including Finnish-type congenital nephrotic syndrome, NPHS2-related renal disease, and NPHS2-related steroid-resistant nephrotic syndrome.
Testing for genetic changes in the NPHS2 gene can be done through diagnostic tests such as targeted variant analysis or comprehensive gene panel testing. Results from these tests can provide valuable information for diagnosis and management of patients with congenital nephrotic syndrome.
Podocin, the protein encoded by the NPHS2 gene, is an essential component of the diaphragm-like structure in the filtration barrier of the kidney known as the slit diaphragm. Changes in the NPHS2 gene can cause disruption of the slit diaphragm and result in protein leakage and nephrotic syndrome.
Additional genetic tests may be recommended to evaluate other genes associated with congenital nephrotic syndrome and related disorders. These tests can help in identifying other genetic causes and provide further information for patient management.
Scientific articles and references related to congenital nephrotic syndrome and the NPHS2 gene can be found in databases such as PubMed. These resources can provide more in-depth information and research on the topic.
Other disorders
In addition to nephrotic syndrome, mutations in the NPHS2 gene have been associated with other renal disorders. These include:
- Non-nephrotic proteinuria: Changes in the NPHS2 gene can result in non-nephrotic proteinuria, a condition characterized by the presence of abnormal amounts of protein in the urine. This condition may not cause nephrotic syndrome, but can still indicate kidney dysfunction.
- Steroid-resistant nephrotic syndrome (SRNS): Some variants of the NPHS2 gene can lead to steroid-resistant nephrotic syndrome, a form of the disorder that does not respond to steroid treatment. This condition is often more severe and difficult to manage than steroid-sensitive nephrotic syndrome.
- Congenital nephrotic syndrome: NPHS2 mutations can also cause congenital nephrotic syndrome, a rare genetic disorder that presents with nephrotic syndrome in children from birth. This condition can be life-threatening if not properly managed.
These disorders may have overlapping symptoms with nephrotic syndrome and can be diagnosed through genetic testing of the NPHS2 gene. Other genes related to kidney function and podocyte proteins may also be tested, depending on the specific presentation and suspected cause of the renal disorder.
Additional information on these disorders can be found in scientific articles, databases, and health resources.
| Resource | Description |
|---|---|
| OMIM | An online catalog of genetic information on human genes and genetic disorders |
| Pubmed | A database of scientific articles and references |
| Nephrotic Syndrome Registry | A registry for patients with nephrotic syndrome and related conditions |
Other Names for This Gene
The NPHS2 gene is also known by other names:
- Podocin
- Podocyte Protein NPHS2
- Nephrotic Syndrome, Steroid-Resistant 2 Gene
- Nephrotic Syndrome 2, Autosomal Recessive
Podocin is one of the proteins that make up the filtration barrier in the kidney called the glomerular filtration barrier. Changes in the NPHS2 gene can cause steroid-resistant nephrotic syndrome, a condition characterized by excessive protein loss in the urine.
The NPHS2 gene is listed in the OMIM catalog of genetic disorders, which provides comprehensive information on the genetic cause of various conditions. Additional information and scientific articles on this gene can be found on the PubMed database.
Testing for changes in the NPHS2 gene can be done through genetic testing labs and DNA sequencing. The results of these tests can help in the diagnosis, management, and genetic counseling of individuals with suspected or confirmed variants in this gene.
Other genes and proteins related to the function of podocytes and renal disorders can also be found in genetic databases and resources. The NPHS2 gene and other related genes play critical roles in maintaining the structure and function of the glomerular filtration barrier.
Diaphragm-like changes in podocyte cell structure and function are associated with congenital nephrotic syndrome caused by variants in the NPHS2 gene. Research and ongoing studies on the NPHS2 gene aim to understand the underlying molecular mechanisms and develop targeted therapies for related conditions.
Additional Information Resources
This section provides additional genetic resources and databases that can be used to find more information on the NPHS2 gene and related diseases:
- OMIM: OMIM is a comprehensive database that provides information on genetic disorders and genes. It includes information on the NPHS2 gene and related diseases, including names and variant information. OMIM can be accessed at: https://www.omim.org.
- PubMed: PubMed is a scientific database that provides access to articles on various topics, including the NPHS2 gene and related diseases. PubMed can be accessed at: https://pubmed.ncbi.nlm.nih.gov/.
- Nephrotic Syndrome Registry: The Nephrotic Syndrome Registry is a database that collects information on patients with nephrotic syndrome. It includes information on genetic changes that cause the syndrome, including changes in the NPHS2 gene. The Nephrotic Syndrome Registry can be accessed at: https://www.nephroticsyndromeregistry.org.
- Diaphragm Catalog – Nephrol: The Diaphragm Catalog – Nephrol is a database that provides information on proteins expressed in the diaphragm of podocytes, a type of cell in the renal glomerulus. It includes information on the podocin protein, which is encoded by the NPHS2 gene. The Diaphragm Catalog – Nephrol can be accessed at: https://www.nephrol.org/diaphragm-catalog.
These additional resources can provide valuable information on the NPHS2 gene, genetic changes that cause related conditions and disorders, and other scientific articles and tests related to the gene and proteins involved in renal health.
Tests Listed in the Genetic Testing Registry
The NPHS2 gene is responsible for encoding the protein known as podocin. Mutations or changes in this gene can cause congenital nephrotic syndrome, steroid-resistant nephrotic syndrome, and other related disorders.
There are several tests listed in the Genetic Testing Registry that are specifically related to the NPHS2 gene. These tests aim to identify any variants or changes in the gene that may be associated with different conditions and diseases.
The Genetic Testing Registry is a valuable resource that provides information on genetic tests for various health conditions. It catalogs and references scientific articles, databases, and other resources related to genetic testing.
Some of the tests listed in the registry for the NPHS2 gene include:
- Genetic testing for variants in the NPHS2 gene to diagnose steroid-resistant nephrotic syndrome
- Genetic testing for mutations in the NPHS2 gene to diagnose congenital nephrotic syndrome
- Testing for changes in the NPHS2 gene to determine the cause of nephrotic syndrome in individuals
These tests provide additional information for the diagnosis and management of various renal diseases, including nephrotic syndrome. By identifying variants or changes in the NPHS2 gene, healthcare professionals can better understand the underlying cause and potentially develop targeted treatments.
It’s important to consult with a healthcare professional or genetic counselor for more information on genetic testing and its implications. They can provide guidance and interpretation of test results based on an individual’s specific medical history and condition.
Scientific Articles on PubMed
The NPHS2 gene is a key gene associated with various genetic disorders, including congenital nephrotic syndrome. Numerous scientific articles on PubMed have explored the role of this gene in the development of these conditions. These articles provide valuable information on the genetic changes, proteins, and cell mechanisms related to NPHS2 and how they cause disease.
In PubMed, you can find a catalog of scientific articles and references on NPHS2 and related genetic variants. These articles offer insights into the diaphragm changes, cell proteins, and other genetic factors that contribute to the development of nephrotic syndrome. They also provide testing protocols and information on other genes associated with steroid-resistant nephrotic syndrome.
The scientific articles listed on PubMed can be a valuable resource for researchers and healthcare professionals seeking additional information on the NPHS2 gene. They can help understand the underlying mechanisms and pathogenesis of nephrotic syndrome and related disorders. These articles also provide a basis for genetic testing and counseling.
In addition to scientific articles, PubMed also provides links to other databases and resources such as OMIM (Online Mendelian Inheritance in Man) for further genetic information on NPHS2 and related genes. These databases can help researchers and healthcare professionals stay updated on the latest research and discoveries in renal genetics.
By utilizing the scientific articles on PubMed, healthcare professionals and researchers can gain deeper insights into the genetic causes of nephrotic syndromes, understand the cell mechanisms and proteins involved, and stay updated on the latest research in this field.
References:
- NPHS2 gene – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov
- PubMed – National Library of Medicine. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov
- Sadowski, C. E., Lovric, S., Mundel, P., & Hildebrandt, F. (2013). Genetic testing in steroid-resistant nephrotic syndrome: when and how? Nephrology Dialysis Transplantation, 28(10), 2419–2430. doi:10.1093/ndt/gft073
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) catalog provides comprehensive information on genetic variants and related disorders. The catalog contains a vast amount of data on genes and diseases, including the NPHS2 gene and its associated disorders.
The NPHS2 gene, also known as the nephrotic syndrome, type 2 (NPHS2), is responsible for the production of a protein called podocin. Podocin plays a crucial role in maintaining the integrity of the podocyte, a specialized cell in the renal glomerulus. Mutations in the NPHS2 gene can lead to steroid-resistant nephrotic syndrome, a genetic condition characterized by excessive protein loss in urine and other related symptoms.
The OMIM catalog provides information on genetic testing available for NPHS2 and other genes associated with nephrotic syndrome. It lists the different genetic tests available along with their associated names, proteins, and changes in the gene that can cause nephrotic syndrome. The catalog also includes additional resources, such as references to articles and databases like PubMed, where more information on the genetic variants and related conditions can be found.
For healthcare professionals and researchers, the OMIM catalog serves as a valuable resource for accessing comprehensive information on genes and diseases, including the NPHS2 gene and its associated disorders. It provides a centralized platform to understand the genetic basis of various conditions and facilitates further research and clinical management.
| Gene | Protein | Genetic Variant | Congenital Disorders |
|---|---|---|---|
| NPHS2 | Podocin | Mutations in the NPHS2 gene | Steroid-resistant nephrotic syndrome |
References:
- OMIM database – NPHS2 gene and related disorders
- PubMed articles on genetic variants and nephrotic syndrome
- Health registry databases for nephrotic syndrome
Gene and Variant Databases
When researching the NPHS2 gene and its variants, it is important to consult gene and variant databases to gather information on related articles, diagnostic testing options, and genetic conditions associated with this gene.
The NPHS2 gene, also known as podocin, is primarily expressed in the podocytes, specialized cells in the renal glomerulus. Mutations in this gene have been linked to steroid-resistant nephrotic syndrome, a condition characterized by excessive protein loss in the urine and other related disorders.
NPHS2 gene and variant databases serve as comprehensive resources for researchers and clinicians seeking information on the genetic aspects of renal health and diseases.
The following databases can provide valuable information on the NPHS2 gene and its variants:
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OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogues genes and genetic disorders. It provides detailed information on the NPHS2 gene and its variants along with other related genes and conditions.
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PubMed: PubMed is a scientific research database that provides access to a vast collection of articles. Searching for “NPHS2 gene” or “podocin” in PubMed can yield a wealth of scientific literature on this gene and its associated disorders.
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The Nephrotic Syndrome Study Network (NEPTUNE) Registry: NEPTUNE is a registry that collects clinical and genetic information on individuals with nephrotic syndrome. It includes information on the NPHS2 gene and its variants, as well as other relevant genetic and clinical data.
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Genetic Testing Registry (GTR): GTR is a centralized database that provides information on genetic tests and their associated genes. It can be used to find available tests for NPHS2 gene testing and other related genetic conditions.
These databases offer valuable resources for researchers and clinicians looking to understand the genetic basis of kidney diseases and related conditions. They provide a wealth of information on NPHS2 gene variants and their associations with various nephrotic syndromes and podocyte disorders.
It is important to consult these databases for up-to-date information and references when studying the NPHS2 gene and its variants.
References
- OMIM: The Online Mendelian Inheritance in Man database provides a comprehensive catalog of human genes and genetic disorders. The NPHS2 gene is listed in OMIM, which includes information on the genetic changes associated with steroid-resistant nephrotic syndrome and other related conditions.
- PubMed: PubMed is a scientific database that contains articles from a variety of scientific journals. Searching for “NPHS2 gene” or related keywords on PubMed can provide additional scientific articles and references on the gene and its role in various diseases and conditions.
- Nephrotic Syndrome Study Network (NEPTUNE) Registry: NEPTUNE is a research consortium focused on studying nephrotic syndrome. The NEPTUNE Registry collects data on patients with various forms of nephrotic syndrome, including those with mutations in the NPHS2 gene. The registry can be a valuable resource for accessing clinical and genetic information on these patients.
- Cell Health & Life Sciences Databases: Various health and life sciences databases, such as NCBI Gene, provide information on the NPHS2 gene and its role in podocyte function and nephrotic syndrome. These resources can be useful for understanding the cellular and molecular mechanisms underlying the diseases related to NPHS2.
- Diagnostic Genetic Testing: Genetic testing labs and companies offer tests to detect mutations in the NPHS2 gene. These tests can help diagnose individuals with genetic changes that may cause podocyte dysfunction and nephrotic syndrome.