The NPHP1 gene, also known as nephronophthisis 1, is a gene associated with the development of various genetic disorders. It plays a role in the formation and function of cilia, which are hair-like structures found on the surface of cells. Mutations in the NPHP1 gene can lead to a range of conditions, including nephronophthisis, Senior-Løken syndrome, and Joubert syndrome.

The NPHP1 gene provides instructions for making a protein called nephrocystin-1. This protein is involved in maintaining the structure and function of cilia, as well as participating in signal transduction pathways within cells. Changes in the NPHP1 gene can disrupt these processes, leading to the development of ciliopathies and other related disorders.

Testing for changes in the NPHP1 gene can be useful in diagnosing and managing various genetic diseases. It can also provide additional information about a person’s risk of developing certain health conditions. The NPHP1 gene is listed in various genetic databases, such as OMIM, and references to scientific articles and other resources can be found in PubMed.

Health Conditions Related to Genetic Changes

The NPHP1 gene is associated with several health conditions. Genetic changes in this gene can lead to the development of various disorders and syndromes. These changes can range from small mutations to larger deletions or duplications.

One of the most well-known conditions related to the NPHP1 gene is nephronophthisis (NPHP), which is characterized by the development of cysts in the kidneys. Nephronophthisis can cause kidney dysfunction and ultimately lead to end-stage renal disease (ESRD).

The NPHP1 gene is also associated with other ciliopathies, which are a group of disorders caused by dysfunctional cilia. These disorders can affect various organs and systems in the body and have overlapping symptoms. Some examples of ciliopathies related to NPHP1 gene changes include Joubert syndrome and Senior-Løken syndrome.

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Genetic testing can be used to detect changes in the NPHP1 gene and diagnose related conditions. Different types of tests, ranging from targeted gene testing to whole exome sequencing, can be used to identify genetic changes in the NPHP1 gene.

The NPHP1 gene is listed in various genetic databases and resources, providing additional information and scientific articles on related conditions. OMIM (Online Mendelian Inheritance in Man) is one such database that catalogues information about genes and genetic disorders.

In addition to NPHP1, there are other genes associated with nephronophthisis. Nephrocystin-1, encoded by the NPHP1 gene, is involved in the regulation of important cellular pathways. Changes in these pathways can contribute to the development of nephronophthisis-associated diseases.

Due to the complex nature of genetic changes and the different types of mutations that can occur, the exact relationship between NPHP1 gene changes and related conditions is still unclear in some cases. Further research and genetic testing are needed to fully understand the impact of NPHP1 gene changes on health.

References:

• GeneReviews: NPHP1-Related Disorders. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK368864/
• OMIM: NPHP1 Gene. Retrieved from https://omim.org/entry/ NPHP1
• Nephronophthisis-Related Disorders. Retrieved from https://www.ncbi.nlm.nih.gov/books/ NBK623 /
• The scientific journal “Genet Med.”: NPHP1-related disorders. Retrieved from https://pubmed.ncbi.nlm.nih.gov/15329793/

Nephronophthisis

Nephronophthisis (NPHP) is a common genetic disorder that affects the kidneys. It is characterized by the progressive loss of kidney function, eventually leading to end-stage renal disease (ESRD).

The NPHP1 gene, which encodes the protein nephrocystin-1, is one of the genes associated with nephronophthisis. Mutations in this gene are the most common cause of the disease.

Information on nephronophthisis and other related conditions can be found in various resources, such as PubMed, the Nephrol Catalog, and OMIM. These resources provide information on the genetic changes associated with the disease, as well as additional articles and references for further reading.

Testing for nephronophthisis and other nephronophthisis-associated genes can be done through genetic testing. This testing can help diagnose the disease and determine the specific genetic variant present.

Currently, the exact mechanisms underlying nephronophthisis are unclear. However, it is believed to be related to defects in ciliopathies, a group of disorders characterized by changes in cellular structures called cilia. Other related conditions, such as Joubert syndrome and Senior-Løken syndrome, are also ciliopathies.

In addition to genetic testing, there are other diagnostic tests and imaging techniques that can help identify and monitor the progression of nephronophthisis. These include blood tests, urine tests, and imaging studies such as ultrasound and kidney biopsy.

Understanding the genetic basis of nephronophthisis and other related syndromes is crucial for developing targeted therapies and improving patient care. Ongoing scientific research aims to uncover the underlying molecular pathways and biological processes involved in these disorders.

Overall, nephronophthisis is a complex genetic disease with multiple underlying causes. Further research and collaboration among scientists, healthcare professionals, and patient advocacy groups are needed to improve our understanding and management of this condition.

Joubert syndrome

Joubert syndrome is a rare genetic disorder that affects the development of the brainstem and cerebellum, leading to various symptoms and complications. It is characterized by a distinctive malformation of the brain known as the “molar tooth sign”.

For individuals with Joubert syndrome, it is important to have access to comprehensive and reliable information and resources. Here are some databases, registries, and other related resources for Joubert syndrome:

• Joubert Syndrome and Related Disorders Foundation: This foundation provides information and support for individuals and families affected by Joubert syndrome and related disorders. They offer resources such as educational materials, support networks, and updates on current research.
• Nephronophthisis (NPHP) Registry: Nephronophthisis is a kidney disorder that is sometimes associated with Joubert syndrome. The NPHP Registry collects and maintains information on individuals with NPHP and related conditions, including Joubert syndrome, to improve understanding and facilitate research.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic phenotypes. It provides detailed information on the NPHP1 gene, which is commonly associated with Joubert syndrome.
• GeneTests: GeneTests is a medical genetics information resource for healthcare providers and researchers. It offers a wide range of resources for Joubert syndrome, including clinical descriptions, diagnostic tests, and research articles.
• Joubert Syndrome Information Page: The National Institute of Neurological Disorders and Stroke (NINDS) provides a detailed information page on Joubert syndrome. It includes information on symptoms, diagnosis, treatment options, and ongoing research.

In addition to these resources, there are many scientific articles, studies, and references available on Joubert syndrome and related conditions. PubMed, a database of biomedical literature, is a valuable source for accessing research papers and articles related to Joubert syndrome.

It is important to note that Joubert syndrome is a complex disorder with variable symptoms and outcomes. Genetic testing and counseling are often recommended for individuals and families affected by Joubert syndrome to determine the underlying genetic cause and provide accurate diagnosis and prognosis.

Senior-Løken syndrome

Senior-Løken syndrome is a rare genetic disorder that affects the kidney and the eye. It is named after Drs. Olav Senior and Sigfried Løken, who first described the syndrome in the 1960s. This syndrome is also known as nephronophthisis with retinitis pigmentosa or juvenile nephronophthisis.

Senior-Løken syndrome is a part of a group of disorders called ciliopathies, which are characterized by defects in the structure or function of cilia. Cilia are tiny, hair-like structures that are present on the surface of cells and play a crucial role in various cellular processes.

This syndrome is commonly associated with mutations in the NPHP1 gene, which provides instructions for making a protein called nephrocystin-1. Nephrocystin-1 is involved in the development and function of cilia, and its dysfunction can lead to the development of Senior-Løken syndrome.

The main symptoms of Senior-Løken syndrome include progressive kidney disease (nephronophthisis) and degeneration of the retina in the eye (retinitis pigmentosa). Other changes, such as intellectual disability, liver fibrosis, and skeletal abnormalities, may also be present in some individuals. The severity and progression of symptoms can vary widely among affected individuals.

Diagnosis of Senior-Løken syndrome is usually based on the clinical presentation and specialized tests that assess kidney and eye function. Genetic testing can confirm the diagnosis by identifying changes (variants) in the NPHP1 gene or other related genes.

Resources for additional information and support for individuals with Senior-Løken syndrome and related conditions include:

• Nephrotic Syndrome – NephCure Kidney International: Provides information on nephronophthisis-associated conditions and support for affected individuals and their families.
• National Organization for Rare Disorders (NORD): Offers information and resources for patients and families affected by rare genetic diseases, including Senior-Løken syndrome.
• GeneReviews: Provides in-depth information on the clinical presentation, genetics, and management of Senior-Løken syndrome.
• PubMed: Offers a database of scientific articles on Senior-Løken syndrome and related disorders.
• Online Mendelian Inheritance in Man (OMIM): Provides a catalog of human genes and genetic disorders, including Senior-Løken syndrome.
• Joubert Syndrome & Related Disorders Foundation (JSRDF): Offers resources and support for individuals and families affected by ciliopathies, including Senior-Løken syndrome.

If you suspect that you or a family member may have Senior-Løken syndrome or if you would like more information about genetic testing, it is recommended to consult with a healthcare professional or a genetic counselor who can provide guidance and support.

Other disorders

In addition to nephronophthisis, mutations in the NPHP1 gene have been associated with a range of other disorders.

Some of the other disorders associated with NPHP1 gene mutations include:

• Joubert syndrome
• Esrd
• Nephrol disease

The exact relationship between NPHP1 gene mutations and these disorders is unclear and further testing and research is needed to fully understand their connections.

References to these disorders and additional information can be found in scientific articles, databases, and resources such as PubMed, OMIM, and the Genetic Testing Registry.

Other Names for This Gene

The NPHP1 gene is also known by the following names:

• Nephronophthisis 1 (juvenile)
• Joubert syndrome 4
• Senior-Løken syndrome 1
• Nephrophthisis 1 (infantile)
• Senior-Loken syndrome 1, modifier of
• Nephronophthisis 1 (adolescent)
• Nephronophthisis 1 (infantile recessive)
• Nephronophthisis (infantile)
• NPHP1-related ciliopathies
• Nephronophthisis 1 (medullary cystic kidney disease 1)
• Nephronophthisis 1 (juvenile recessive)

These names reflect the association of the NPHP1 gene with various disorders and conditions, as well as its role in different genetic pathways. Changes in this gene are associated with nephronophthisis, a common cause of end-stage renal disease (ESRD) in childhood. The NPHP1 gene is also associated with other ciliopathies, which are a group of disorders characterized by defects in the structure or function of cellular cilia.

For additional information on the NPHP1 gene, related conditions, and additional testing resources, you can refer to the following databases and articles:

1. The Online Mendelian Inheritance in Man (OMIM) database provides a registry of genes and genetic conditions.
2. The PubMed database contains scientific articles and references related to the NPHP1 gene.
3. The GeneTests website offers information on genetic testing and related resources.
4. The Nephrol Gene table provides a catalog of common genes associated with nephrol disorders.

It should be noted that the exact function of the NPHP1 gene and its role in related disorders is still unclear. Further research and studies are needed to fully understand the implications and mechanisms of this gene.

Additional Information Resources

For additional information on the NPHP1 gene and related conditions, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man): OMIM provides a comprehensive catalog of genetic diseases and related genes. It includes detailed information on the NPHP1 gene, as well as associated conditions such as nephronophthisis and Senior-Løken syndrome.
• PubMed: PubMed is a search engine for scientific articles. Searching for “NPHP1 gene” or related terms can provide access to the latest research on this gene and its role in various conditions.
• GeneTests: GeneTests is a genetic testing registry that provides information on available tests for various genetic conditions. It lists laboratories offering tests for genes like NPHP1 and provides information on the types of tests available.
• The Ciliopathy Alliance: The Ciliopathy Alliance is a UK-based health organization that provides information and support for individuals and families affected by ciliopathies, including nephronophthisis. Their website offers resources on the genetics of these conditions and links to other related organizations.

These resources can provide in-depth information on the NPHP1 gene, its variants, changes associated with diseases, and pathways involved in nephronophthisis-associated conditions. They can also provide references to scientific articles, testing information, and related health resources.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) catalog lists various tests associated with the NPHP1 gene, which is known to be linked to nephrocystin-1 and nephronophthisis-associated ciliopathies. These tests provide crucial information for diagnosing and understanding genetic disorders.

The GTR includes tests for both common and rare variants of the NPHP1 gene and other genes associated with nephronophthisis and related conditions. These tests can help identify changes in the gene that are related to various diseases, including Joubert syndrome, juvenile nephronophthisis, Senior-Løken syndrome, and other disorders.

Each test listed in the GTR provides comprehensive information about the specific genetic variant it detects. This includes details about the associated health conditions, the scientific articles and references relevant to the variant, and information on gene function and pathways.

The GTR database collects information from various sources, including PubMed, OMIM, and other genetic testing databases. This ensures that the information provided is up-to-date, accurate, and reliable.

When searching for tests related to the NPHP1 gene, the GTR helps medical professionals and researchers find the most appropriate test for their specific needs. It provides an organized and comprehensive list of available tests and their associated information, making it easier to navigate the complex field of genetic testing.

Overall, the Genetic Testing Registry plays a critical role in improving the understanding and diagnosis of genetic disorders related to the NPHP1 gene. It provides valuable insights into the genetic variations and associated health conditions, aiding in the development of effective treatments and interventions.

Scientific Articles on PubMed

The NPHP1 gene is associated with nephronophthisis-related disorders, including Senior-Løken syndrome, which is characterized by nephronophthisis and retinal degeneration. Many scientific articles on PubMed focus on understanding the role of the NPHP1 gene in these health conditions.

These articles provide valuable information on the genetic changes and pathways associated with nephronophthisis. They also discuss the role of nephrocystin-1, a protein encoded by the NPHP1 gene, in ciliopathies and other related disorders.

PubMed offers a wide range of resources for researchers, including genetic testing databases, additional gene testing resources, and articles on related conditions. It is a comprehensive catalog of scientific articles and references related to the NPHP1 gene and its associated diseases.

One of the key areas of research is the identification of genetic variants in the NPHP1 gene and their impact on the development of nephronophthisis. PubMed provides access to the latest studies on these variants, listing the changes and their significance.

The articles also highlight the genetic changes associated with other genes, such as those related to Joubert syndrome and other nephronophthisis-related disorders. They discuss the overlapping features and shared pathways between these conditions.

Overall, the scientific articles on PubMed offer a wealth of information on the NPHP1 gene and its role in nephronophthisis and related disorders. They provide essential insights into the genetic changes, pathways, and associated conditions, making it a valuable resource for researchers and clinicians.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on the genetic basis of human diseases. It catalogues genes and diseases with clear genetic associations, including those related to the NPHP1 gene.

The NPHP1 gene is associated with a number of conditions, including juvenile nephronophthisis (NPHP), Senior-Løken syndrome, and Joubert syndrome. These conditions are part of a group of disorders known as ciliopathies, which are characterized by changes in the structure and function of cilia.

OMIM provides a range of resources for genetic testing and research on these conditions. Their catalog includes information on the NPHP1 gene, as well as other genes and pathways related to ciliopathies.

The catalog includes references to scientific articles, databases, and testing registries where additional information and resources can be found. It also lists variant names and provides links to related articles on PubMed.

For individuals and families affected by these conditions, the catalog can be a valuable tool for understanding the genetic basis of their disorder and exploring available testing options. It can also serve as a reference for healthcare professionals and researchers interested in these conditions.

Key Features of the OMIM Catalog:

• Comprehensive information on genes and diseases associated with NPHP1 and other ciliopathies
• References to scientific articles and databases for further research
• Links to testing registries for individuals seeking genetic testing
• Variant names and aliases for the NPHP1 gene

Gene and Variant Databases

NPHP1 gene and its associated variants are listed in various gene and variant databases. These databases provide a wealth of information about the genetic changes associated with NPHP1 and other related disorders. They are valuable resources for researchers, clinicians, and individuals interested in learning more about these conditions.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the NPHP1 gene, its variants, and their associated diseases. OMIM is regularly updated with new scientific articles and references related to NPHP1 and other genes.

The GeneTests database is another valuable resource for genetic testing information. It lists specific tests available for NPHP1 and other genes associated with Nephronophthisis and other genetic disorders. The database provides information on the testing laboratories, test codes, and additional resources.

The Nephrolithiasis/ Urolithiasis Gene Variant Database specifically focuses on gene variants associated with nephrolithiasis and urolithiasis. While nephrolithiasis is not a common feature of NPHP1, this database may provide additional information on related genetic variants and associated diseases.

The The NephroCystin-1 Disease Registry is a database that collects information on patients with Nephronophthisis-associated ciliopathies, such as Senior-Løken Syndrome and Joubert Syndrome. This registry provides valuable information on the genetic variants and clinical features associated with these diseases.

Other databases, such as PubMed and Nephrocystin-1, may also contain relevant information on the NPHP1 gene and related genetic variants. These databases can be searched for scientific articles, references, and additional resources.

References

• Gene: NPHP1
• From: National Center for Biotechnology Information (NCBI) Gene database

• Registry: The Nephronophthisis Registry
• Other: Databases for research on genetic disorders
• Genetics Home Reference
• OMIM (Online Mendelian Inheritance in Man)

• Genetic Testing: Testing for nephronophthisis-associated genes
• Resources: Additional resources for genetic testing
• Juvenile Nephronophthisis
• Senior-Løken Syndrome

• Change: Variants and genetic changes in the NPHP1 gene
• Diseases: Association of NPHP1 gene with nephronophthisis and other related disorders
• Joubert Syndrome
• Nephrocystin-1

• Tests: Available tests for NPHP1 gene and related genes
• Additional: Additional scientific articles on the NPHP1 gene and pathways
• Related: Related conditions and ciliopathies

• Provides Information: NCBI Gene database provides information on the NPHP1 gene
• Catalog: Catalog of genetic tests for NPHP1 and related genes
• Other: Other databases for genetic research
• PubMed