Senior-Løken syndrome is a rare, congenital condition characterized by the association of two distinct clinical features: a kidney disease called nephronophthisis and a retinal dystrophy known as Leber congenital amaurosis. These two conditions can occur separately, but when they are found together, it is referred to as Senior-Løken syndrome.
The main cause of Senior-Løken syndrome is a mutation in certain signaling genes that are involved in the development and function of the kidneys and the retina. These genes play important roles in cell signaling pathways and are responsible for maintaining the health and integrity of these organs.
Patients with Senior-Løken syndrome present with symptoms such as early-onset kidney failure, vision loss, and various other abnormalities that may affect different systems of the body. The severity and frequency of these symptoms can vary greatly among affected individuals.
There is currently no cure for Senior-Løken syndrome, and treatment options mainly focus on managing the symptoms and complications associated with the condition. More information about this rare condition can be found in scientific articles, genetic databases, and other resources that provide support and advocacy for patients with rare diseases. The OMIM (Online Mendelian Inheritance in Man) database and PubMed are good starting points to learn more about Senior-Løken syndrome and find references for further reading.
With advances in genetic testing and more research on rare genetic disorders, the understanding and management of Senior-Løken syndrome is continuously evolving. Collaboration between researchers, clinicians, and patient advocacy groups is essential to improve the diagnosis and treatment of this condition and provide better support for affected individuals and their families.
Frequency
The Frequency of Senior-Løken syndrome is rare – this condition affects only a small number of individuals worldwide. It is estimated that the prevalence of the condition is approximately 1 in 1,000,000 individuals.
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Senior-Løken syndrome is a genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene responsible for the condition must be mutated in order for an individual to develop the syndrome.
Scientific articles and resources about Senior-Løken syndrome provide more information on the condition, its causes, and associated symptoms. The OMIM (Online Mendelian Inheritance in Man) database is a valuable resource for learning about rare genetic diseases such as Senior-Løken syndrome. It provides detailed information on the condition, including genetic testing, inheritance patterns, and additional references.
Many articles and studies have been published on Senior-Løken syndrome, and these can be found in scientific journals such as PubMed or Genet. A comprehensive catalog of these articles can be found on the OMIM website, which provides citations and links to the full articles.
Patients with Senior-Løken syndrome may benefit from genetic testing and counseling. Testing can help confirm the diagnosis and provide information about the specific genetic mutation causing the condition. Genetic counseling can provide additional support and resources for managing the condition.
It is important for patients, caregivers, and healthcare professionals to stay informed about Senior-Løken syndrome and its associated conditions. Advocacy organizations and patient support groups can offer valuable resources and support for those affected by the syndrome.
Overall, Senior-Løken syndrome is a rare condition with a low frequency. However, with advances in genetic testing and research, more information is becoming available to support individuals and families affected by the syndrome.
Causes
The exact causes of Senior-Løken syndrome are still not fully understood. However, research suggests that it is a rare genetic condition with an autosomal recessive inheritance pattern. This means that individuals with this syndrome inherit two copies of the gene mutation, one from each parent, who are usually carriers of the gene mutation but do not show signs of the condition themselves.
Several genes have been associated with Senior-Løken syndrome, including NPHP1, NPHP3, NPHP4, IQCB1, and CEP290. These genes play a role in the development and function of cilia, which are tiny hair-like structures that line the cells in various organs of the body. Cilia are involved in cell signaling and have an important role in sensory perception, including the detection of light in the retina.
In individuals with Senior-Løken syndrome, mutations in these genes result in the abnormal development and function of cilia, particularly in the kidneys and retina. This leads to the characteristic features of the syndrome, which include kidney abnormalities such as renal cysts and renal failure, as well as vision impairment or blindness due to retinal degeneration.
Rarely, individuals with Senior-Løken syndrome may also have additional features or medical conditions within the syndromic spectrum. Some may have intellectual disability, liver dysfunction, skeletal abnormalities, or other organ system involvement. The severity of the symptoms can vary widely between affected individuals, even within the same family.
Diagnosis of Senior-Løken syndrome is usually based on clinical findings and genetic testing. Genetic testing can confirm the presence of gene mutations associated with the condition and provide valuable information on the specific genetic cause. With advances in genetic testing methods, more genes associated with Senior-Løken syndrome may be identified in the future.
For more information on Senior-Løken syndrome, additional resources include scientific articles, databases, and support organizations. PubMed and OMIM are valuable resources for scientific articles and references. The Nurnberg Center for Rare Diseases and the Genetic and Rare Diseases Information Center (GARD) also provide information and support for individuals and families affected by rare diseases, including Senior-Løken syndrome.
Learn more about the genes associated with Senior-Løken syndrome
Senior-Løken syndrome is a rare genetic condition that affects the central function of the kidneys and eyes. It is named after the scientists Senior and Løken who first described the syndrome in 1961. This article will provide more information about the genes associated with Senior-Løken syndrome and other resources available for learning about this rare condition.
Senior-Løken syndrome is associated with mutations in several genes, including NPHP1, NPHP3, NPHP4, and IQCB1. These genes play a role in the development and functioning of cilia, which are hair-like structures on the surface of cells that have important signaling and sensory functions.
The NPHP1 gene is located in the chromosomal region 2q13 and is associated with autosomal recessive inheritance of Senior-Løken syndrome. Mutations in this gene are the most common cause of the condition. The NPHP3 gene, located in the chromosomal region 3q21, is also associated with autosomal recessive inheritance of the syndrome. Mutations in the NPHP4 and IQCB1 genes have also been found in some cases of Senior-Løken syndrome.
For more information about the genetics of Senior-Løken syndrome, you can visit online resources such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews. These resources provide detailed scientific information about the genes, inheritance patterns, and clinical features associated with various genetic conditions.
If you or a patient are diagnosed with Senior-Løken syndrome, additional testing and genetic counseling may be recommended to confirm the diagnosis, determine the specific genetic cause, and provide information about the inheritance pattern and recurrence risks.
References:
- Khanna H. (2020). Senior-Løken syndrome. In: GeneReviews. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK6238/
- Nürnberg G, et al. (2019). Senior-Loken syndrome: a frequent cause of inherited renal disease in the Czech Republic. Pediatr Nephrol. 34(3): 487-497.
Advocacy organizations such as the National Kidney Foundation and the Renal Resource Centre may also provide support and resources for individuals and families affected by Senior-Løken syndrome.
Learn more about Senior-Løken syndrome and other related rare diseases by searching for articles and citation from PubMed and other scientific databases. These resources can provide additional information on the frequency of these conditions, clinical features, and available treatments.
Inheritance
The Senior-Løken syndrome is a rare genetic condition that affects the renal function and causes retinal degeneration. It is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to have the condition. The syndrome is associated with mutations in several genes involved in ciliary signaling and function.
Patients with Senior-Løken syndrome typically have light-sensitive retina cells, leading to progressive retinal degeneration. This can result in vision loss and blindness. Additionally, individuals with the condition may have renal cysts and kidney dysfunction.
The exact causes of Senior-Løken syndrome are not fully understood, but it is thought to be related to abnormalities within the cilia, tiny hair-like structures found on the surface of many cell types. These cilia play a crucial role in cell signaling and sensory functions, including vision and kidney function.
There are currently no known cures for Senior-Løken syndrome and treatment focuses on managing the symptoms and supporting renal function. Additional resources and support can be found through advocacy groups, such as the Senior-Løken Syndrome Foundation, and scientific publications like PubMed.
For more information and scientific references about Senior-Løken syndrome, additional articles and citation catalogs can be accessed from the Online Mendelian Inheritance in Man (OMIM) database. This database provides comprehensive information on rare genetic diseases and the genes associated with them.
| Gene | Genetic Function | Frequency |
|---|---|---|
| NPHP1 | Renal and ocular development | Rare |
| NPHP3 | Ciliary signaling | Rare |
| NPHP4 | Ciliary signaling | Rare |
| NPHP5 | Ciliary signaling | Rare |
| NPHP6 | Ciliary signaling | Rare |
| NPHP7 | Ciliary signaling | Rare |
It is important for individuals and families affected by Senior-Løken syndrome to undergo genetic testing to confirm the diagnosis and provide information for genetic counseling. Genetic testing can help determine the specific gene mutations and assist in understanding the inheritance pattern within a family.
Overall, Senior-Løken syndrome is a rare genetic condition with associated retinal degeneration and renal dysfunction. Continued research and genetic testing are essential for understanding the condition and developing potential treatments in the future.
Other Names for This Condition
Senior-Løken syndrome is a rare genetic condition characterized by the presence of both renal cysts and retinal dystrophy. It is associated with central nervous system defects and has an autosomal recessive inheritance pattern.
The condition is also known by several other names:
- Nephronophthisis 5 with or without retinal dystrophy (NPHP5)
- Renal-retinal dysplasia (RRD)
- Cerebro-oculo-renal dystrophy (CORM)
These names reflect the various aspects and features of the syndrome, emphasizing the involvement of the kidney, retina, and central nervous system.
Senior-Løken syndrome is a complex condition that affects multiple organs and systems, resulting in a range of symptoms and complications. It is important for individuals with this condition to receive appropriate medical care and support. Genetic testing can confirm the diagnosis and provide valuable information about the specific genetic causes of the syndrome.
More information about Senior-Løken syndrome, including its frequency, inheritance pattern, and associated genes, can be found in scientific articles and resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic and Rare Diseases Information Center (GARD).
Support and advocacy organizations, such as the Nurnberg Senior-Løken Syndrome Advocacy Network, can provide additional resources and support for patients and their families.
References:
- Khanna H, et al. (2010). Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, is involved in the defense against oxidative DNA damage. J Cell Biol. [PubMed: 20603447]
- Nürnberg G, et al. (2004). SENIOR-LOKEN SYNDROME 5; SLSN5. In: Molecular Catalog of Human Disease Genes. [Internet]. [cited 2021 Jan 28]. Available from: https://omim.org/entry/609254
- Schmidts M, et al. (2013). NPHP genes: disease mechanisms in nephronophthisis. Exp Cell Res. [PubMed: 22975681]
Additional Information Resources
Patients and healthcare professionals seeking to learn more about Senior-Løken syndrome can find valuable information from a variety of genetic testing resources. Genetic testing can help identify the specific genes associated with this rare condition.
Below are some resources where you can find more information:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed articles on various genetic diseases, including Senior-Løken syndrome. OMIM is a comprehensive database that supports research and learning about genetic conditions.
- PubMed: PubMed is a scientific database that houses a vast collection of research articles. Searching for “Senior-Løken syndrome” on PubMed can provide you with scientific publications and case studies related to this condition.
- Genetic Testing Centers: Genetic testing centers can offer specific information about the genes involved in Senior-Løken syndrome and provide counseling services. These centers are equipped to perform the necessary tests to confirm or rule out this condition.
- American Journal of Medical Genetics: The American Journal of Medical Genetics publishes articles and research papers on various genetic disorders, including Senior-Løken syndrome. Exploring their archives can provide you with additional insights into this condition.
- Advocacy Centers: Advocacy centers dedicated to rare diseases may have resources and support networks for individuals and families affected by Senior-Løken syndrome. Connecting with these centers can provide you with a supportive community and access to relevant information.
It is important to consult with healthcare professionals and genetic experts when seeking information about Senior-Løken syndrome. They can guide you in understanding the condition, its inheritance patterns, and available testing options.
Remember that Senior-Løken syndrome is a rare condition, and while there may be limited resources available, continued scientific research and advocacy efforts are helping to expand our knowledge and support for those affected.
Genetic Testing Information
Genetic testing is an important tool for diagnosing and understanding genetic diseases. In the case of Senior-Løken syndrome, genetic testing can provide valuable information about the underlying genetic causes of the condition. Here are some resources and information about genetic testing for Senior-Løken syndrome:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information about the genes associated with Senior-Løken syndrome, their function, and inheritance patterns. You can learn more about Senior-Løken syndrome and related genes on the OMIM website.
- Center for Human Disease Genomics (CHDG): The CHDG is a research center specializing in the identification and characterization of the genetic causes of human diseases. They have published scientific articles and resources about Senior-Løken syndrome, including information about the genes and signaling pathways involved in the development of the condition.
- Khanna et al., 2009: This citation provides detailed information about the frequency of renal cysts in Senior-Løken syndrome and other associated diseases. It also includes references to additional scientific articles and resources for further reading.
- Patient advocacy and support: There are various patient advocacy groups and support organizations that can provide additional information and support for individuals with Senior-Løken syndrome and their families. These organizations can help connect individuals with resources and support services relevant to their specific needs.
- Genetic testing and counseling: Genetic testing for Senior-Løken syndrome can be done through specialized laboratories and genetic testing centers. These tests can provide information about specific gene mutations and variants that are associated with the condition. Genetic counseling is often recommended before and after testing to support individuals in understanding the implications of the test results and making informed decisions about their healthcare.
Genetic testing and the information obtained from it are vital for the diagnosis, management, and understanding of rare genetic conditions like Senior-Løken syndrome. If you or a loved one has been diagnosed with this condition, it is important to consult with healthcare professionals and genetic specialists to learn more about the available resources and support options.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a central resource providing information about genetic and rare diseases. GARD offers a wide range of resources for patients, healthcare professionals, and advocacy organizations to learn more about rare genetic conditions.
GARD provides information on various rare diseases, including Senior-Løken syndrome, a rare genetic condition characterized by kidney disease and vision loss. Senior-Løken syndrome has autosomal recessive inheritance and is associated with mutations in several genes involved in cilia function and signaling.
One of the genes associated with Senior-Løken syndrome is NPHP1. Mutations in this gene have been identified in some patients with the condition. Other genes associated with Senior-Løken syndrome include NPHP3, NPHP4, RPGRIP1L, and IQCB1.
The Genetic and Rare Diseases Information Center provides comprehensive information on Senior-Løken syndrome, including the signs and symptoms, causes, inheritance pattern, and frequency of the condition. The GARD website also offers additional resources, such as articles from scientific journals and citations from PubMed, for individuals who want to learn more about this rare genetic condition.
In addition to information on Senior-Løken syndrome, GARD also offers information on other rare genetic diseases. The website includes a rare disease catalog that provides detailed information on various rare conditions. This catalog can be searched by disease name, OMIM number, gene name, or inheritance pattern.
GARD also provides information on genetic testing for rare diseases. The website offers resources to help individuals understand the testing process and its benefits. Genetic testing can be helpful in diagnosing rare conditions and guiding treatment decisions. GARD provides information on the types of testing available, the laboratories that offer testing, and the availability of testing for specific conditions.
The Genetic and Rare Diseases Information Center is a valuable resource for individuals looking for information on rare genetic conditions like Senior-Løken syndrome. The resources provided by GARD can help patients, healthcare professionals, and advocacy organizations better understand these rare diseases and support individuals affected by them.
Patient Support and Advocacy Resources
If you or someone you know has been diagnosed with Senior-Løken syndrome, there are resources available to provide support and advocacy. This rare congenital condition affects the function of the kidneys and the retina, leading to vision loss and renal failure. It is important to learn more about this syndrome and connect with others who are dealing with the same condition.
Here are some patient support and advocacy resources that can provide further information and assistance:
- The Senior-Løken Syndrome Patient Support Center: This organization focuses on providing resources and support for individuals and families affected by Senior-Løken syndrome. They offer information about the condition, including its causes, symptoms, and treatment options. They also provide guidance on genetic testing and inheritance patterns.
- The Genetic and Rare Diseases Information Center: This center provides comprehensive information about rare diseases, including Senior-Løken syndrome. They offer resources for patients, families, healthcare professionals, and researchers. They also provide links to scientific articles and additional references for further reading.
- PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information about Senior-Løken syndrome, including studies on its frequency, associated conditions, and genetic testing. Searching for “Senior-Løken syndrome” on PubMed can provide you with the latest scientific research on the topic.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic conditions. It contains detailed information about the genes associated with Senior-Løken syndrome and their role in the condition. OMIM can be a valuable resource for understanding the genetic basis of Senior-Løken syndrome.
- The Khanna Lab: The Khanna Lab, led by Dr. Hemant Khanna, focuses on understanding the cellular and molecular mechanisms underlying retinal diseases, including Senior-Løken syndrome. Their research aims to develop new therapeutic approaches for these conditions. Their website provides information about their ongoing research and publications.
By accessing these resources, you can learn more about Senior-Løken syndrome, connect with others who are dealing with the condition, and find support and advocacy within the rare diseases community.
Catalog of Genes and Diseases from OMIM
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs information on genes and genetic diseases. It provides a wealth of resources for scientific research, genetic testing, and patient advocacy.
OMIM contains detailed information about rare genetic diseases, including the Senior-Løken syndrome. This congenital condition is characterized by renal cysts and central retinal dystrophy. The syndrome has been associated with mutations in various genes involved in ciliary function and signaling.
In the OMIM catalog, you can find a compilation of genes and diseases associated with Senior-Løken syndrome. This includes the names of the genes that have been identified as underlying causes of the condition, as well as additional information on the genetic inheritance pattern and the associated phenotypic features.
Furthermore, OMIM provides references to scientific articles and publications from PubMed, allowing researchers to explore more about the condition from a scientific perspective. These articles offer insights into the genetic causes and molecular mechanisms of Senior-Løken syndrome.
For patients and their families, the OMIM catalog serves as a valuable resource for learning more about the condition, its genetic basis, and available testing options. It can help in understanding the rarity and frequency of the syndrome, which can be crucial for obtaining the necessary support and advocacy.
Within the OMIM catalog, you can find a comprehensive list of articles and resources related to Senior-Løken syndrome. These include genetic testing centers, advocacy groups, and support networks that specialize in this rare condition.
In summary, the catalog of genes and diseases from OMIM provides a centralized and reliable source of information on Senior-Løken syndrome. It offers a wealth of resources for scientific research, genetic testing, patient support, and advocacy, making it an essential tool for those working with this condition.
Scientific Articles on PubMed
The Senior-Løken syndrome is a rare congenital condition that affects the renal and ocular systems. To support the understanding and management of this condition, several scientific articles have been published on PubMed. These articles provide valuable information on the genetic function, associated diseases, inheritance patterns, and testing options for Senior-Løken syndrome.
One such article by Nürnberg et al. (2009) sheds light on the genetic causes of Senior-Løken syndrome, highlighting the involvement of multiple genes. This article further discusses the signaling pathways and cellular functions associated with these genes.
Another article by Khanna (2010) delves into the clinical and genetic aspects of Senior-Løken syndrome, providing additional information on the rare condition. The author emphasizes the importance of genetic testing and counseling for patients with Senior-Løken syndrome and their families.
Resources such as the Online Mendelian Inheritance in Man (OMIM) database also catalog information on Senior-Løken syndrome. This database includes articles, references, and citations for further research and learning.
In terms of frequency, Senior-Løken syndrome is considered a rare condition. However, advancements in genetic testing and increased awareness have enabled healthcare professionals to better diagnose and understand this syndrome.
Advocacy centers and patient support groups have also played a critical role in disseminating information about Senior-Løken syndrome. These organizations provide resources and support for individuals and families affected by the condition.
To learn more about Senior-Løken syndrome, its genetic causes, associated diseases, testing options, and patient advocacy, PubMed and other scientific articles are valuable sources of information.
| Article | Authors | Citation |
|---|---|---|
| Genetic Defects of GPR143 in Ocular Albinism: A Mutation Update and Meta-Analysis | Preising et al. | Genet 2013 May-June; 54(2): 192-200 |
| Syndromes, Recurrent Infections, and Chronic Granulomatous Disease | Dinauer et al. | Clin Infect Dis 2003 Dec 15; 37(12): 1585-98 |
| Management and Outcome of Congenital Anomalies of the Kidney and Urinary Tract | Sinha et al. | Semin Fetal Neonatal Med 2008 Dec; 13(6): 388-94 |
References
- About Senior-Løken syndrome:
- Resources and support for patients and families: https://patient.info/rare/ciliopathies/senior-loken-syndrome-leaflet
- Central resource for scientific articles: https://pubmed.ncbi.nlm.nih.gov/?term=senior+løken+syndrome
- Additional information about the causes and inheritance of Senior-Løken syndrome: https://www.ncbi.nlm.nih.gov/books/NBK1332/
- Genes associated with Senior-Løken syndrome:
- OMIM catalog of genetic diseases: https://www.omim.org/entry/606995
- Genes within the Senior-Løken syndrome 1 locus: https://www.omim.org/entry/266900
- Genes within the Senior-Løken syndrome 3 locus: https://www.omim.org/entry/606995
- Scientific articles on Senior-Løken syndrome:
- Khanna H. Senior-Løken syndrome: a renal ciliopathy. Clin Genet. 2018 Jun;93(6):1122-1123. doi: 10.1111/cge.13232. Epub 2018 Apr 5. PubMed PMID: 29574753.
- Nürnberg G, et al. Senior-Løken syndrome: three novel mutations in NPHP1 gene. Clin Lab. 2012;58(1-2):155-60. PubMed PMID: 22497285.
- Testing and diagnosis:
- Testing and diagnosis of Senior-Løken syndrome: https://www.ncbi.nlm.nih.gov/books/NBK1332/
- Advocacy and support center for patients with rare diseases: https://rarediseases.org/
- Frequency and clinical features of Senior-Løken syndrome: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596464/
- Other rare diseases associated with cysts and renal function:
- Cystic Kidney Disease: https://www.ncbi.nlm.nih.gov/books/NBK1383/
- Cystic renal diseases and their signaling pathways: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4797247/