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Nephronophthisis (NPHP) is a rare genetic condition that affects the kidneys. It is one of the most common genetic causes of end-stage renal disease in children and young adults. NPHP is characterized by the gradual loss of kidney function, leading to kidney failure. The condition can also cause other health problems, such as high blood pressure and urinary tract infections.

Nephronophthisis-associated genes play a crucial role in the development and function of cilia, which are tiny hair-like structures that line the kidneys and other organs. When these genes are mutated, the cilia do not function properly, leading to the development of NPHP. Studies have found mutations in more than 20 different genes associated with NPHP, highlighting the genetic heterogeneity of the condition.

Research on Nephronophthisis has provided important insights into the causes and inheritance of other ciliopathies, which are a group of related conditions that affect cilia. NPHP research has also led to the discovery of potential therapeutic targets for these conditions, offering hope for the development of new treatment options.

Frequency

Nephronophthisis is a rare genetic condition with a frequency of approximately 1 in 50,000 to 1 in 100,000 live births. It is one of the most common genetic causes of end-stage renal disease in children and young adults.

The condition has an autosomal recessive inheritance pattern, which means that both copies of the gene responsible for nephronophthisis must be mutated in order for an individual to develop the condition. As a result, patients with nephronophthisis often have unaffected parents who are carriers of the mutated gene.

More information about the frequency of nephronophthisis can be found in the OMIM database, which catalogs genetic diseases and their associated genes. Additionally, the Nephronophthisis-Associated Ciliopathies Registry provides resources and support for patients and families affected by the condition.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Genetic testing is available for nephronophthisis, and it can help diagnose the condition in patients with symptoms and guide appropriate management and treatment. ClinicalTrials.gov may have information on current research studies and clinical trials related to nephronophthisis.

Other rare diseases associated with nephronophthisis include Joubert syndrome, Senior-Løken syndrome, and Meckel-Gruber syndrome. These diseases result from mutations in genes that are involved in ciliogenesis and ciliary function.

For more information on nephronophthisis and related diseases, scientific articles and resources can be found on PubMed, a database of biomedical literature.

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about genes and genetic disorders, including nephronophthisis.
  • Nephronophthisis-Associated Ciliopathies Registry: This registry provides resources and support for patients and families affected by nephronophthisis and related ciliopathies.
  • ClinicalTrials.gov: This website may have information on research studies and clinical trials related to nephronophthisis and its treatment.
  • PubMed: This database contains scientific articles and resources on nephronophthisis and related genetic disorders.

References:

  1. Bergmann C. Genetics of autosomal recessive polycystic kidney disease and nephronophthisis. Contrib Nephrol. 2011;169:156-160. PubMed PMID: 21555946.
  2. Hildebrandt F, Attanasio M, Otto E. Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 2009 Sep;20(9):1834-1845. doi: 10.1681/ASN.2008050519. Epub 2009 May 21. PubMed PMID: 19470677.
  3. Srour M, Caron V, Pearson T, Chitayat D, Cleiren E. Neurologic features in nephronophthisis: a review. Orphanet J Rare Dis. 2012 Jun 1;7:50. doi: 10.1186/1750-1172-7-50. PubMed PMID: 22657112; PubMed Central PMCID: PMC3417673.

Causes

In the context of nephronophthisis, the underlying causes of the condition are primarily genetic in nature. Several genes have been identified that are associated with nephronophthisis, a group of rare genetic disorders known as ciliopathies. These genes are involved in the function of primary cilia, which are small, hair-like structures found on the surface of cells in the kidney and other organs.

Genetic testing can be done to determine if a patient has a mutation in one of the genes associated with nephronophthisis. This testing can help confirm a diagnosis and provide valuable information about the inheritance pattern of the condition.

Some of the genes associated with nephronophthisis include:

  • NPHP1
  • NPHP2
  • NPHP3
  • NPHP4
  • NPHP5

In addition to these genes, there may be other genes yet to be discovered that are also involved in the development of nephronophthisis.

It’s important to note that not all people with mutations in these genes will develop nephronophthisis. There may be other factors involved in why some individuals with these gene mutations develop the condition while others do not.

For more information about the genes associated with nephronophthisis, clinicaltrialsgov, Pubmed, and OMIM can be valuable resources to learn about ongoing studies and scientific articles related to this condition.

In terms of inheritance, nephronophthisis is usually inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the disease-causing gene, one from each parent, to develop the condition. However, in some cases, nephronophthisis can be inherited in an autosomal dominant or X-linked manner.

Advocacy organizations and support groups can also provide valuable support and information for those affected by nephronophthisis and their families.

See also  GYS1 gene

It’s important to note that while genetic mutations are the primary cause of nephronophthisis, there may be other factors involved in the development and progression of the condition. Further research is needed to better understand these causes and how they impact the function of the kidneys.

Learn more about the genes associated with Nephronophthisis

Nephronophthisis is a rare genetic condition that affects the function of the kidneys. It is one of the ciliopathies, a group of diseases caused by defects in the structure or function of cilia, which are tiny hair-like structures that are found on the surface of cells.

There are several genes associated with nephronophthisis. These genes play a role in the development and function of the kidneys. Mutations in these genes can lead to the development of the condition.

If you’re interested in learning more about the genes associated with nephronophthisis, here are some resources you can explore:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can search for nephronophthisis-associated genes on the OMIM database.
  • PubMed: PubMed is a database of scientific articles. You can search for articles on nephronophthisis-associated genes to find more information about the latest research and studies.
  • Genetic testing: Genetic testing can be conducted to identify specific gene mutations associated with nephronophthisis. If you or someone you know has been diagnosed with nephronophthisis, genetic testing can provide more information about the underlying genetic cause.
  • Additional resources: There are other resources available for rare diseases, such as patient support organizations, advocacy groups, and clinical trials. These resources can provide more information and support for individuals and families affected by nephronophthisis.

By learning more about the genes associated with nephronophthisis, you can gain a better understanding of this rare condition and contribute to ongoing research and advancements in diagnosis and treatment.

Inheritance

Nephronophthisis (NPHP) is a rare genetic condition that belongs to a group of disorders called ciliopathies. Ciliopathies are a group of rare diseases that are caused by defects in the structure or function of cilia, which are tiny hair-like structures on the surface of cells that play a crucial role in various cellular processes.

NPHP can be inherited in an autosomal recessive manner, which means that both copies of a gene associated with the condition must be mutated for an individual to develop the disease. The severity and progression of NPHP can vary widely, even among individuals with the same genetic mutations.

Studies have identified several genes that are associated with NPHP, including NPHP1, NPHP2, NPHP3, and many others. Mutations in these genes can cause the disease, and testing for mutations in these genes can help confirm a diagnosis of NPHP.

Additional research is ongoing to discover other genes associated with NPHP and to understand more about the condition. The information obtained from these studies and research resources such as OMIM, PubMed, and clinicaltrialsgov provide valuable support for scientists, clinicians, and advocacy groups working to learn more about NPHP and develop treatments for the disease.

Patient advocacy groups and centers like the Nephronophthisis Research Center provide resources and support for people with NPHP and their families. Through these resources, individuals can learn more about the genetic causes, inheritance frequency, and clinical trials for NPHP-affected patients.

These resources play a critical role in supporting scientific and clinical research, as well as helping people with NPHP and their families cope with the challenges associated with the condition.

Other Names for This Condition:

  • Nephronophthisis
  • Nephronophthisis-associated ciliopathies
  • Junior-type nephronophthisis
  • NPHP
  • Medullary cystic kidney disease (MCKD)
  • Juvenile nephronophthisis
  • Infantile NPH
  • NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6, NPHP7, NPHP8, NPHP9, NPHP10, NPHP11, NPHP12, NPHP13, NPHP14, NPHP15

Nephronophthisis, also known as nephronophthisis-associated ciliopathies, has several other names that are used interchangeably in the medical literature. Some of these names include Junior-type nephronophthisis, NPHP, Medullary cystic kidney disease (MCKD), Juvenile nephronophthisis, and Infantile NPH. In addition, the condition is often referred to by the specific genes that are associated with it, such as NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6, NPHP7, NPHP8, NPHP9, NPHP10, NPHP11, NPHP12, NPHP13, NPHP14, and NPHP15.

Nephronophthisis is a rare genetic condition that affects the function of the kidneys. It is characterized by the development of cysts in the kidneys, which can lead to progressive kidney damage and eventual kidney failure. The condition is inherited in an autosomal recessive manner, meaning that both copies of a specific gene must be mutated for the condition to develop.

For more information about the different genes associated with nephronophthisis, as well as the clinical features and inheritance patterns of the condition, you can refer to the scientific resources listed below:

  • Online Mendelian Inheritance in Man (OMIM): This catalog provides comprehensive information about genetic disorders, including nephronophthisis-associated ciliopathies. It includes references to scientific articles, clinical studies, and genetic testing resources.
  • PubMed: This online database contains a vast collection of scientific articles about nephronophthisis and related topics. You can search for specific articles using keywords related to the condition, such as “nephronophthisis” or “ciliopathy”.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials and research studies related to nephronophthisis and other genetic disorders. It can be a valuable resource for patients and families who are interested in participating in research or accessing new treatments.
  • Genetic Testing Registry: This online database allows you to search for laboratories that offer genetic testing for specific genes associated with nephronophthisis. It provides information about the types of tests available and the frequency of genetic mutations in different populations.
  • Nephronophthisis Foundation: This advocacy organization provides support and resources for people affected by nephronophthisis and their families. They offer information about the condition, research updates, and opportunities for community support and engagement.
See also  What is genetic ancestry testing

By learning more about nephronophthisis and the resources available for support, research, and testing, patients and their families can better understand and manage this rare genetic condition.

Additional Information Resources

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing nephronophthisis, a rare genetic condition that develops from abnormalities in the function of nephrons in the kidneys. By identifying the specific genes associated with nephronophthisis, genetic testing can provide valuable information about the causes and inheritance patterns of this condition.

Scientific research has identified several genes that are associated with nephronophthisis. These genes include NPHP1, NPHP2, NPHP3, NPHP4, NPHP5, NPHP6, and NPHP7. Genetic testing can help determine if individuals carry mutations in these genes, which can aid in diagnosis and understanding of the condition.

For people interested in genetic testing for nephronophthisis, there are several resources available. The Genetic and Rare Diseases Information Center (GARD) provides information, articles, and resources about various rare genetic diseases, including nephronophthisis. Additionally, the Online Mendelian Inheritance in Man (OMIM) and PubMed databases contain scientific articles and studies that provide further information about the genetic basis of nephronophthisis.

In addition, advocacy and support organizations, such as the Nephronophthisis Foundation, can provide more information about genetic testing and connect individuals with resources and support. These organizations often have a catalog of clinical trials, research studies, and additional resources for people affected by nephronophthisis and other ciliopathies.

Genetic testing for nephronophthisis can help individuals and families understand the inheritance patterns and risks associated with this rare condition. By learning more about the specific genes involved, individuals can make informed decisions about family planning and medical management.

Useful Resources for Genetic Testing Information:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health. GARD provides a comprehensive resource for information on genetic and rare diseases.

GARD offers information on the names, causes, inheritance patterns, and frequency of genetic and rare diseases. The center collects information from scientific articles, OMIM, PubMed, and other resources to provide up-to-date and reliable information to patients, healthcare professionals, and researchers.

For individuals with nephronophthisis-associated ciliopathies, GARD provides information on the genes associated with these conditions, as well as the clinical trials and studies that are currently underway. Additionally, GARD offers resources on genetic testing, advocacy and support groups, and research articles for further learning.

People with nephronophthisis and other rare conditions can develop a better understanding of their condition and the associated clinical features, inheritance patterns, and available treatment options through GARD. The center also offers resources for finding clinical trials and support for individuals and families affected by these conditions.

For more information, visit the GARD website at https://rarediseases.info.nih.gov/.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Nephronophthisis or any other rare genetic condition, there are several patient support and advocacy resources available to provide information, support, and assistance. These resources can help you learn more about the condition, connect with others who have the same or similar conditions, and provide additional resources for testing, research, and treatment options.

Here are some organizations and websites that provide resources and support for people affected by Nephronophthisis and other rare genetic diseases:

  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information on Nephronophthisis and other rare diseases, including articles, references, and links to other resources. You can find more information about Nephronophthisis on their website.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM has a catalog of genes and genetic disorders, including Nephronophthisis. You can search for specific genes and learn more about the genetic causes and clinical features of these conditions.
  • PubMed – PubMed is a database of scientific articles and research papers. You can search for articles on Nephronophthisis and related topics to learn more about recent studies and advancements in the field.
  • ClinicalTrials.gov – ClinicalTrials.gov provides information about ongoing clinical trials for Nephronophthisis and other rare diseases. You can find information about studies that are currently enrolling participants and learn more about the research being done to develop new treatments.

In addition to these resources, there are also patient support groups and advocacy organizations that can provide information, support, and resources for people with Nephronophthisis and their families. These organizations often have online communities and forums where you can connect with others who have the condition, share experiences, and get advice.

See also  Andermann syndrome

Remember, you are not alone. There are resources and support available to help you navigate this condition and connect with others who understand what you’re going through.

Research Studies from ClinicalTrials.gov

Nephronophthisis is a rare genetic condition that causes kidney disease. Research studies from ClinicalTrials.gov offer valuable resources for testing and learning more about this condition.

These studies focus on the genes associated with nephronophthisis, as well as other rare diseases and ciliopathies. ClinicalTrials.gov provides information on clinical trials, scientific articles, and references to additional resources.

One center listed on ClinicalTrials.gov is the Nephronophthisis Research Center, which aims to develop resources for people with this condition. The center offers support and advocacy for patients and their families.

ClinicalTrials.gov also provides information on the inheritance and function of genes associated with nephronophthisis and other ciliopathies. This can help researchers and healthcare professionals better understand the causes and frequency of these conditions.

In addition to ClinicalTrials.gov, other resources such as PubMed and OMIM have articles and references on nephronophthisis and associated genes. These resources can provide more information on the scientific studies and discoveries related to this rare condition.

By utilizing the research studies and resources available on ClinicalTrials.gov and other platforms, we can continue to learn more about nephronophthisis and find ways to support individuals and families affected by this condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive resource for researchers and clinicians to develop a better understanding of the genetic causes and inheritance patterns associated with rare diseases such as nephronophthisis. OMIM, or Online Mendelian Inheritance in Man, is a scientific database that provides information on the relationships between genes and diseases.

Through extensive research and genetic studies, scientists have been able to learn more about the genes and genetic mutations that lead to the development of nephronophthisis. Nephronophthisis is a rare genetic disorder that affects the function of the kidneys.

This catalog includes information on the genetic mutations, inheritance patterns, and clinical features associated with nephronophthisis and other ciliopathies. Ciliopathies are a group of rare diseases that are characterized by dysfunction in the structure and function of cilia, which are hair-like structures found on the surface of cells.

Disease Name Gene Name Inheritance References
Nephronophthisis NPHP1 Autosomal recessive PubMed, OMIM
Nephronophthisis NPHP2 Autosomal recessive PubMed, OMIM
Nephronophthisis NPHP3 Autosomal recessive PubMed, OMIM

These are just a few examples of the genes associated with nephronophthisis. The catalog provides more information on additional genes and diseases that are linked to nephronophthisis and related conditions.

For patients and advocacy groups, the catalog serves as a valuable resource for learning more about the genetic basis of their condition. It also provides information on clinical trials and resources available to support research and patient care.

To learn more about the genes and diseases in the catalog, you can visit the OMIM website at omim.org. Additionally, resources such as ClinicalTrials.gov provide information on ongoing clinical trials and studies related to nephronophthisis and other rare diseases.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and patients to learn more about the genetic basis of nephronophthisis and other rare diseases. By understanding the underlying genetic mutations and inheritance patterns, we can develop better diagnostic and treatment strategies for people affected by these conditions.

Scientific Articles on PubMed

PubMed is a database that provides access to scientific articles on a wide range of topics, including rare genetic conditions such as nephronophthisis and other ciliopathies. These articles can provide valuable information about the condition, its causes, inheritance patterns, and associated genes.

Patients and researchers can use PubMed to search for scientific articles using various keywords, such as “nephronophthisis,” “ciliopathies,” and the names of specific genes associated with these conditions. This catalog of articles will support research and provide additional resources for people looking to learn more about nephronophthisis and related diseases.

It is important to note that nephronophthisis is a rare genetic condition, and scientific articles can provide essential information about its clinical features, genetic causes, and frequency. These articles can also help researchers develop more targeted treatments and improve patient care.

In addition to scientific articles, PubMed also provides access to other resources such as clinicaltrials.gov, which lists ongoing clinical trials related to nephronophthisis and ciliopathies. This information can be valuable for patients and their families who may be interested in participating in research studies.

Another resource that can be accessed through PubMed is Online Mendelian Inheritance in Man (OMIM), which provides comprehensive information about genetic disorders, including nephronophthisis. OMIM can support research and provide references for further reading.

Advocacy organizations and support groups for people with nephronophthisis and other ciliopathies can also benefit from PubMed by accessing scientific articles to stay up-to-date on the latest research and developments in the field.

In summary, PubMed is a valuable tool for accessing scientific articles, clinical trial information, and other resources related to nephronophthisis and ciliopathies. By utilizing this database, patients, researchers, and advocacy groups can access a wealth of information to support their research and improve patient care.

References

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