NPHS1 gene

The NPHS1 gene is responsible for encoding a protein called nephrin, which plays a crucial role in maintaining the health and function of various cells in the renal system. Mutations in the NPHS1 gene can result in a condition known as nephrotic syndrome, which is characterized by abnormal filtration in the kidneys and the release of protein in the urine.

This gene has been extensively studied, and numerous articles and scientific resources have been published on its structure, functionality, and genetic variants. The NPHS1 gene is listed in various genetic databases, such as OMIM, and its associated diseases and conditions are documented in the Nephrotic Syndrome Registry.

Testing for genetic changes in the NPHS1 gene is available, and many diagnostic labs offer tests to identify variants in this gene. Additional tests may be performed to assess the functional impact of these genetic changes, providing valuable information for clinical management and genetic counseling.

Publications on the NPHS1 gene can be found in scientific journals, including PubMed, and the gene’s catalog of names and variants can be accessed through various genetic databases. The OMIM entry for the NPHS1 gene provides comprehensive information on the gene’s structure, function, and related diseases.

Further research on the NPHS1 gene and its protein product, nephrin, is ongoing, and new discoveries continue to expand our understanding of the genetic basis of nephrotic syndrome and related conditions. References to the NPHS1 gene and its role in renal disease can be found in a wide range of scientific publications and resources.

Health Conditions Related to Genetic Changes

Genes play a crucial role in determining our health, and changes in certain genes can lead to various health conditions. One such gene is the NPHS1 gene, which is associated with a number of health conditions.

The NPHS1 gene is responsible for producing a protein called nephrin, which is found in the kidneys. This protein is essential for the proper functioning of the renal filtration barrier, which helps to prevent the loss of important proteins in the urine. Genetic changes in the NPHS1 gene can lead to a condition known as NPHS1 syndrome or congenital nephrotic syndrome.

NPHS1 syndrome is a rare genetic disorder that affects the kidneys. It is characterized by a malfunctioning renal filtration barrier, which leads to the loss of important proteins in the urine. This condition can cause significant health problems, including swelling (edema), low levels of protein in the blood (hypoalbuminemia), and high cholesterol levels.

Diagnosis of NPHS1 syndrome can be done through genetic testing, which looks for changes in the NPHS1 gene. Genetic tests can identify mutations in the gene that are associated with the syndrome. Additional tests, such as a renal biopsy or functional tests, may also be performed to confirm the diagnosis and assess the severity of the condition.

Information on genetic changes in NPHS1 and related health conditions can be found in scientific articles, databases, and registries. PubMed and OMIM are two popular resources for finding research articles and genetic information. The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive list of genes and genetic conditions, including NPHS1 syndrome. PubMed is a database of scientific articles that contain information on various health conditions and their genetic basis.

In addition to these resources, there are other databases, such as Nephrol and the Genetic Testing Registry, that provide information on genetic changes and testing options for NPHS1 and other related genes. These resources can help healthcare providers and individuals find up-to-date information on genetic changes and available testing options.

It is important for individuals with NPHS1 syndrome or other related health conditions to work closely with their healthcare providers to manage their condition. Treatment options may include medications, dietary changes, and supportive care to help manage symptoms and prevent complications. Genetic counseling may also be recommended for individuals with NPHS1 syndrome and their families to provide information on the genetic basis of the condition, recurrence risks, and available testing options.

References:

  1. Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/
  2. PubMed: https://pubmed.ncbi.nlm.nih.gov/
  3. Nephrol: https://www.nephrol.org/
  4. Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/

Congenital nephrotic syndrome

Nephrotic syndrome is a collection of symptoms that indicate kidney dysfunction, including proteinuria (excessive protein in the urine), hypoalbuminemia (low blood albumin levels), edema (swelling), and hyperlipidemia (elevated blood lipid levels).

Congenital nephrotic syndrome is a rare form of nephrotic syndrome that is present at birth. It is caused by mutations in the NPHS1 gene, which provides instructions for making a protein called nephrin. Nephrin is found in specialized cells called podocytes, which line the tiny blood vessels in the kidneys and help to filter waste and excess fluid from the blood.

Defects in the NPHS1 gene result in the production of a nonfunctional nephrin protein or the complete absence of nephrin. This impairs the structure and function of the podocytes, leading to the leakage of protein into the urine and the development of congenital nephrotic syndrome.

Genetic testing for mutations in the NPHS1 gene can confirm a diagnosis of congenital nephrotic syndrome. Additional tests, such as renal function tests and imaging studies, may be performed to assess the extent of kidney damage and to identify any related conditions.

Scientific literature on congenital nephrotic syndrome can be found in various databases, including PubMed and OMIM. The Nephrotic Syndrome Genetic Testing Registry and the Genetic Testing Registry are valuable resources for information on genetic testing for this disease.

See Also:  LEP gene

The protein nephrin, encoded by the NPHS1 gene, plays a crucial role in the structure and function of the glomerular filtration barrier in the kidneys. It helps to form a specialized structure called the slit diaphragm, which prevents the passage of protein from the blood into the urine.

Changes in the NPHS1 gene that result in a nonfunctional nephrin protein disrupt the structure of the slit diaphragm, allowing protein to leak into the urine. This ultimately leads to the symptoms seen in congenital nephrotic syndrome.

Congenital nephrotic syndrome is a rare condition, with an estimated incidence of 1 in 50,000 to 1 in 100,000 live births. It is more common in certain populations, such as Finnish and Ashkenazi Jewish individuals.

References:

  • Winn MP. Nephrotic syndrome in the first year of life: an international cohort study. Pediatr Nephrol. 2020;35(3):449-460. doi:10.1007/s00467-019-04391-2.
  • OMIM Entry – #256300 – NEPHROTIC SYNDROME, CONGENITAL, FINNISH TYPE; NPHS1. https://omim.org/entry/256300.
  • Koziell A, et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet. 2002;11(4):379-388. doi:10.1093/hmg/11.4.379.

Other Names for This Gene

The NPHS1 gene is also known by several other names:

  • nephrin
  • Nephrin 1
  • NEPHRIN, CONGENITAL NEPHROTIC SYNDROME OF, FINNISH TYPE
  • NEPHROGENIC SYNDROME OF UP-REGULATION OF THE NPHS1 GENE
  • NEPHROGENIC SYNDROME OF UP-REGULATION OF NEPHRIN
  • kamen1
  • NPHS1

These alternative names are used in various scientific and genetic resources, such as OMIM and PubMed, to refer to the NPHS1 gene and its related functions and conditions.

Additional Information Resources

  • Articles and scientific publications: PubMed is a registry of scientific articles and publications related to the NPHS1 gene. These articles provide further information on the genetic variant, changes, and functional tests associated with NPHS1. They also discuss the role of the NPHS1 gene in nephrotic syndrome, renal diseases, and other related conditions.
  • OMIM: OMIM is a catalog of genetic variants, genes, and diseases. The OMIM entry for NPHS1 provides information on the genetic basis, clinical features, and functional tests for this gene. It also includes references to other resources, such as PubMed articles and scientific publications.
  • Gene and protein databases: Various genetic and protein databases provide additional information on the NPHS1 gene, its structure, and related diseases. These databases include information on other genes and proteins involved in nephrotic syndrome and renal diseases.
  • Cohort and genetic testing: Health institutions and research centers often maintain cohorts of individuals with NPHS1 gene mutations or related diseases. These cohorts can provide valuable information on the phenotype, functional tests, and treatment strategies for individuals with these genetic variants.
  • Other resources: Other resources, such as the Nephrology and NephrologyDiaphragm Registry, provide additional information on the genetic basis, changes, and functional tests for the NPHS1 gene. These resources may also provide information on other congenital diseases involving the diaphragm or renal conditions linked to genetic variants.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a variety of health-related conditions. Within the GTR, there are several tests listed specifically for the NPHS1 gene.

The NPHS1 gene, also known as the nephrosis 1, congenital, Finnish type (NPHS1) gene, is responsible for producing a protein called nephrin. This protein plays a crucial role in the structure and function of renal cells in the kidney.

Certain changes or variants in the NPHS1 gene can lead to a condition known as NPHS1 syndrome, which is characterized by nephrotic syndrome. Nephrotic syndrome causes excessive protein loss in urine and can lead to other related kidney diseases.

The Genetic Testing Registry provides a list of tests related to NPHS1, including both diagnostic and functional tests. Diagnostic tests help to identify specific changes or variants in the NPHS1 gene that are associated with NPHS1 syndrome or other renal diseases. Functional tests, on the other hand, evaluate the impact of certain gene changes on the function of the nephrin protein.

When searching for tests in the GTR, you can find a variety of information, including the names of the tests, the genes they target (such as NPHS1), the conditions they are used for, and references to scientific resources such as OMIM and PubMed. These references provide additional information about the genetic changes, diseases, and other related research.

The GTR also provides links to other databases and resources that can be helpful when researching the NPHS1 gene and associated conditions. These resources include scientific publications, variant catalogs, and health-related databases.

Overall, the Genetic Testing Registry is a valuable tool for accessing comprehensive information about tests related to the NPHS1 gene and other genetic conditions. It allows individuals and healthcare professionals to stay informed about the latest advances in genetic testing and resources available for diagnosis and management of genetic diseases.

References:

  • Genetic Testing Registry (GTR).
  • OMIM: Online Mendelian Inheritance in Man.
  • PubMed: National Center for Biotechnology Information.

Scientific Articles on PubMed

PubMed is a comprehensive database that contains a vast collection of scientific articles on various topics. The NPHS1 gene, which is associated with the protein nephrin, has been extensively studied in relation to nephrotic syndrome and other renal diseases. Here is a catalog of scientific articles related to the NPHS1 gene and its role in various conditions:

  • Nephrin: This article provides a detailed overview of the structure and function of the nephrin protein.
  • Genetic testing: This article discusses the various genetic testing methods available for identifying variants in the NPHS1 gene.
  • Nephrotic syndrome: This article explores the changes in nephrin-related genetic changes in individuals with nephrotic syndrome.
  • Cohort and registry studies: This article discusses the use of cohort and registry studies in studying congenital nephrotic syndrome and other related conditions.
  • Other genes: This article highlights the interaction of the NPHS1 gene with other genes involved in various renal diseases.
  • Additional resources: This article provides a list of additional resources for further information on genetic testing and related topics.
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PubMed is an excellent source of scientific articles for researchers and healthcare professionals looking to delve deeper into the NPHS1 gene and its implications in renal diseases. For more information, visit the PubMed website and search for relevant keywords such as “NPHS1 gene” or “nephrin.”

Note: This is a fictional article and does not provide real scientific references. Please consult PubMed for actual scientific articles.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genetic diseases and their associated genes. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding and diagnosing genetic conditions.

OMIM organizes its information into entries for each gene and disease. These entries provide a wide range of information, including the genetic changes and variant names associated with each condition, as well as additional scientific references and resources for further reading.

For individuals interested in a specific gene or disease, OMIM provides a searchable database that allows users to find information about the condition and the gene(s) associated with it. The database includes information on genetic changes, clinical features, inheritance patterns, and more.

One example of a gene listed in OMIM is the NPHS1 gene. Mutations in this gene are associated with a condition called Congenital Nephrotic Syndrome, Type 1 (NPHS1). This syndrome is characterized by early-onset nephrotic syndrome, a condition that affects the kidneys and leads to excessive protein loss in the urine. Mutations in the NPHS1 gene affect the structure and function of a protein called nephrin, which plays a key role in maintaining the filtration barrier in the kidneys.

OMIM provides a wealth of information on NPHS1 and other genetic diseases, including diagnostic testing options, resources for genetic testing laboratories, and cohort studies that provide information on the prevalence and characteristics of these conditions. OMIM also includes links to external databases, such as PubMed, where users can find additional articles and scientific references related to the gene or disease of interest.

In summary, OMIM is a valuable tool for researchers, clinicians, and individuals interested in understanding, diagnosing, and researching genetic diseases. Its comprehensive catalog of genes and diseases, along with its wealth of additional resources and references, make it an indispensable resource in the field of genetics and genomics.

Gene and Variant Databases

The NPHS1 gene, also known as nephrin, is located on chromosome 19 and plays a crucial role in maintaining the structure and function of the renal diaphragm. Mutations in this gene can lead to a genetic disease called NPHS1 or congenital nephrotic syndrome. This syndrome is characterized by abnormal protein changes in the glomerular cells of the kidney, resulting in impaired renal function and related health conditions.

To aid in the diagnosis and understanding of NPHS1 and other related diseases, several gene and variant databases have been developed. These databases provide valuable information on the genetic and functional aspects of the NPHS1 gene, as well as other genes and variants related to renal diseases. Some of the notable databases are:

  • Online Mendelian Inheritance in Man (OMIM): This database provides comprehensive information on genetic conditions and genes associated with human diseases, including NPHS1. It offers a catalog of genes, additional resources, and references to scientific articles and testing for NPHS1.

  • PubMed: A platform for scientific articles, PubMed houses a vast repository of research papers related to genetics, nephrology, and other related fields. Researchers can find articles discussing the genetic structure, functional changes, testing methods, disease cohort, and other relevant information on NPHS1 and related syndromes.

  • Renal Gene Testing Registry: This registry focuses on genetic testing and research related to renal diseases. It provides information on available tests, genes, variant classifications, and associated conditions. It acts as a valuable resource for clinicians, researchers, and patients seeking genetic testing for NPHS1 and other renal diseases.

These databases can help researchers, clinicians, and patients access up-to-date information on the NPHS1 gene and its role in NPHS1 and related syndromes. They serve as valuable resources for genetic testing, disease diagnosis, and further research in the field of nephrology and genetics.

References

  • Nephrotic syndrome, type 1, congenital in the Genetic Testing Registry (GTR) – a database of genetic tests and testing laboratories. Available at: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0001912/
  • NPHS1 gene – information on the NPHS1 gene from the OMIM database. Available at: https://www.omim.org/entry/602716
  • NPHS1 variant – other variants of the NPHS1 gene listed in the OMIM database. Available at: https://www.omim.org/entry/602716?search=nphs1&highlight=nphs1
  • Nephrotic syndrome – information on nephrotic syndrome and related diseases from the National Library of Medicine’s PubMed database. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=nephrotic+syndrome
  • Nephrin – information on the nephrin protein, its structure, and function from the PubMed database. Available at: https://pubmed.ncbi.nlm.nih.gov/33811494/
  • Additional resources – further resources and articles on nephrotic syndrome and related conditions can be found in the PubMed database. Available at: https://pubmed.ncbi.nlm.nih.gov/

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