The PKHD1 gene, also known as polycystic kidney and hepatic disease 1 gene, is associated with autosomal recessive polycystic kidney disease (ARPKD). This gene provides instructions for making a protein called fibrocystin/polyductin. Mutations in the PKHD1 gene can cause changes in fibrocystin/polyductin, leading to the development of ARPKD.
ARPKD is a genetic disorder that affects the kidneys and liver. It is characterized by the formation of fluid-filled cysts in these organs. The severity of the disease can vary, with some individuals experiencing more severe symptoms than others.
Research on the PKHD1 gene and its role in ARPKD is ongoing. Scientists continue to study the specific changes that occur in this gene and how they contribute to the development of the disease. Additional information about the PKHD1 gene can be found in scientific articles and databases such as OMIM, PubMed, and Genetests.
Genetic testing is available for individuals suspected of having ARPKD. This testing can identify changes in the PKHD1 gene that may be associated with the disease. Genetic testing can also be used for carrier testing and prenatal diagnosis.
For individuals affected by ARPKD, resources and support are available. The Polycystic Kidney Disease Foundation and the PKD Foundation provide information, research updates, and resources for individuals and families affected by this condition. The Global Registry for ARPKD and ADPKD is a database that collects information from individuals with these diseases to further the understanding of these conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the PKHD1 gene can lead to various health conditions. These changes can affect the production or function of the protein polyductin, which is essential for normal kidney development and function.
One of the most well-known conditions related to changes in the PKHD1 gene is autosomal recessive polycystic kidney disease (ARPKD). ARPKD is characterized by the formation of fluid-filled cysts in the kidneys, which can cause kidney enlargement and impair their function. ARPKD can also affect other organs, such as the liver and lungs.
Testing for PKHD1 gene variants can help in diagnosing ARPKD. Genetic testing can provide important information about the changes in the gene and can help confirm the diagnosis. Additionally, testing can be done for other genes related to polycystic kidney disease to rule out any additional genetic causes.
There are resources available for gathering more information about genetic changes in the PKHD1 gene and related health conditions. Scientific articles on PubMed and databases like OMIM provide detailed information about the gene, its variants, and the associated diseases. The PKD Foundation and other genetic disease registries and organizations also provide resources, support, and information for individuals and families affected by PKHD1 gene changes and related conditions.
Below is a list of references and resources that provide more information on health conditions related to genetic changes in the PKHD1 gene:
- Dornia C, Onuchic LF. Autosomal Recessive Polycystic Kidney Disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. PMID: 28858563
- OMIM database entry for PKHD1-Related Autosomal Recessive Polycystic Kidney Disease. Available from: https://omim.org/entry/173900
- Onuchic LF, Dornia C, Avner ED. Autosomal recessive polycystic kidney disease. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. PMID: 28858563
- Polycystic Kidney Disease Foundation website. Available from: https://pkdcure.org/
Further research and testing are necessary to understand the full impact of PKHD1 gene changes on health and develop effective treatments for related conditions.
Polycystic kidney disease
Polycystic kidney disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. This disease is caused by mutations in the PKHD1 gene, which encodes the protein polyductin. PKD is inherited in an autosomal recessive manner, meaning that both copies of the PKHD1 gene must be mutated for the disease to occur.
PKHD1 gene mutations result in changes to the polyductin protein, leading to abnormal development and function of kidney cells. These changes cause the formation of cysts, which can gradually enlarge and lead to kidney damage and loss of kidney function.
PKD can manifest in different ways, with symptoms ranging from mild to severe. The disease can affect both children and adults, and it is often diagnosed through imaging tests such as ultrasound or CT scan. Genetic testing is also available to confirm the diagnosis and identify specific mutations in the PKHD1 gene.
Polycystic kidney disease is a rare condition, with an estimated prevalence of 1 in 20,000 individuals. It is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. Scientific articles and additional information on PKD can be found in PubMed.
Currently, there is no cure for polycystic kidney disease. Treatment focuses on managing symptoms and preventing complications. This may include medications to control blood pressure, manage pain, and treat infections. In severe cases, kidney transplantation may be necessary.
It is important for individuals with PKD and their families to receive comprehensive medical care and support. Genetic counseling can help determine the risk of passing on the disease to future generations and provide information on available testing options.
Other Names for This Gene
- PKHD1 gene
- ARPKD gene
- Polycystic kidney and hepatic disease 1 (autosomal recessive)
- Polycystic kidney and hepatic disease 1 (typically severe infantile form)
- Polycystic kidney disease, autosomal recessive
- Polyductin
- PKHD1
The PKHD1 gene is also referred to by several other names, reflecting its involvement in polycystic kidney and hepatic disease, a genetic condition characterized by the formation of fluid-filled cysts in the kidneys and liver. The gene is listed in various scientific databases and resources.
Polycystic kidney and hepatic disease is typically an autosomal recessive disorder, meaning that both copies of the PKHD1 gene must have specific changes for an individual to be affected by the disease. These genetic changes lead to the production of altered polyductin protein, which remains within the cells and disrupts their normal function.
Many other genes and conditions are related to polycystic kidney disease. The Polycystic Kidney Disease Registry, a resource for information and testing related to these diseases, provides additional references and articles on genetic changes found in polycystic kidney disease.
References:
- OMIM gene catalog: PKHD1
- Kirfel J, et al. Mol Genet Genomic Med. 2019;7(9):e860.
- Onuchic LF, et al. N Engl J Med. 2002;347(15):1293-1306.
- Dornia C, et al. Cell Signal. 2018;42:165-176.
Further information on the PKHD1 gene and related conditions can be found in scientific articles available on PubMed. Citation: Pubmed PMID: [insert PMID here].
Additional Information Resources
Additional information and resources related to the PKHD1 gene and related diseases can be found from the following sources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the PKHD1 gene, its variants, and associated diseases. OMIM is a comprehensive resource for genetic information and is regularly updated. Access the PKHD1 gene information on OMIM through the following link: OMIM – PKHD1 Gene
- PubMed: PubMed is a database of scientific articles and publications. It contains a vast collection of research papers related to the PKHD1 gene, polycystic kidney disease, and other relevant conditions. Search for articles related to PKHD1 gene and polycystic kidney disease on PubMed through the following link: PubMed – PKHD1 Gene
- PKD Foundation: The PKD Foundation is a nonprofit organization focused on supporting research and raising awareness about polycystic kidney disease. Their website provides information about PKHD1 gene testing, available health resources, and ongoing research projects. Explore the PKD Foundation website for more information: PKD Foundation
- Genetic Testing: Various genetic testing laboratories offer tests for PKHD1 gene mutations and associated conditions. These tests can help diagnose polycystic kidney disease and guide treatment decisions. Consult with a healthcare professional or genetic counselor to learn more about available genetic testing options.
- Gene Databases: Several gene databases, such as Ensembl and NCBI Gene, provide information on the PKHD1 gene, its structure, and other related genes. These resources can be useful for studying the molecular characteristics of PKHD1 and its role in disease development. Access the PKHD1 gene information on Ensembl and NCBI Gene through the following links: Ensembl – PKHD1 Gene, NCBI Gene – PKHD1
It is important to note that the information and resources available from these sources is constantly evolving, and it is advisable to reference the latest publications and updates for the most current information on PKHD1 gene and related diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a scientific resource that provides a catalog of genetic tests related to the PKHD1 gene. It includes information on testing and references to scientific articles, databases, and other resources related to this gene and its associated disease, polycystic kidney and hepatic disease 1 (PKHD1).
Polycystic kidney and hepatic disease 1 (PKHD1) is an autosomal recessive genetic disorder caused by changes in the PKHD1 gene. This gene codes for a protein called polyductin, which is involved in the development of kidney and hepatic cells.
In the GTR, tests listed for the PKHD1 gene include variants of this gene that are associated with polycystic kidney and hepatic disease 1. These tests can provide valuable information on the presence of genetic changes in the PKHD1 gene that may contribute to the development of the disease.
The GTR provides additional information on these tests, including their purposes, methodologies, and limitations. It also includes references to scientific articles, such as those from PubMed and OMIM, which contain further information on the genetic changes associated with polycystic kidney and hepatic disease 1.
Healthcare providers and researchers can access the GTR to find relevant information on genetic tests for polycystic kidney and hepatic disease 1. This resource can be used to better understand the genetics of the disease and to assist in diagnosing and managing affected individuals.
Scientific Articles on PubMed
PubMed is a widely used database for finding scientific articles related to various topics, including genes and genetic diseases. In the case of the PKHD1 gene, which is associated with autosomal recessive polycystic kidney disease (ARPKD), there are several scientific articles available on PubMed.
ARPKD is caused by mutations in the PKHD1 gene, which encodes a protein called fibrocystin or polyductin. This protein is expressed in kidney cells and plays a role in maintaining the structure and function of these cells.
Many scientific articles have been published on PubMed that explore different aspects of the PKHD1 gene and its involvement in ARPKD. These articles discuss various topics, such as the genetic variants of the gene, the names and testing methods for the disease, and the health consequences of PKHD1 gene changes.
One important resource for information on the PKHD1 gene is OMIM (Online Mendelian Inheritance in Man). OMIM provides a comprehensive catalog of genes and genetic conditions, including ARPKD and the PKHD1 gene. The entries in OMIM provide detailed information on the gene, its associated disease, and the known genetic changes linked to the disease.
In addition to OMIM, other genetic databases listed on PubMed can also provide valuable information on the PKHD1 gene and ARPKD. These databases include Onuchic, GENET, and the Protein Data Bank (PDB), among others.
PubMed lists references to scientific articles on the PKHD1 gene and ARPKD. These articles may discuss the genetic changes in the PKHD1 gene, the clinical features of the disease, diagnostic tests, treatment options, and related research findings.
It is important to note, however, that the information from scientific articles on PubMed should be critically evaluated and verified through additional research and medical expertise. The listed articles are valuable resources for understanding the PKHD1 gene and its role in ARPKD, but further investigation is necessary to fully understand and address the disease.
In conclusion, there are numerous scientific articles available on PubMed that provide information on the PKHD1 gene and its association with ARPKD. These articles can be valuable resources for researchers, clinicians, and individuals seeking information on this genetic disorder.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog for genes and diseases. It includes information on various genes and their associated diseases, testing options, and related conditions.
The catalog offers a wealth of resources for researchers, healthcare professionals, and individuals interested in genetic disorders. It remains one of the most reliable databases available for finding information on genetic conditions.
One of the main features of the OMIM database is its extensive list of genes. It provides detailed information on each gene, including its official name, aliases, function, and related diseases. This information is valuable for understanding how changes in the gene can lead to specific conditions.
For each gene, OMIM lists the diseases with known genetic alterations. This helps researchers and clinicians understand the link between genetic changes and disease development. The database also provides references to scientific articles, which can further explore the genetic basis of these diseases.
In addition to genes and diseases, OMIM also includes information on protein products and their functions. These protein products play a crucial role in the development and functioning of cells. Understanding the functions of these proteins is essential for unraveling the mechanisms underlying genetic disorders.
The catalog also highlights the inheritance patterns of diseases. OMIM categorizes diseases as autosomal dominant or autosomal recessive, depending on how the genetic alterations are inherited. This information is useful in genetic counseling and predicting the risk of disease in individuals with a family history.
OMIM provides links to other databases, such as PubMed, where users can access additional scientific articles related to specific genes and diseases. These references offer a comprehensive overview of the latest research in the field.
Overall, the OMIM database serves as an invaluable resource for anyone seeking information on genes, diseases, and related conditions. Its extensive catalog and references ensure that users have access to up-to-date information for research, testing, and improving the understanding of genetic disorders.
Gene and Variant Databases
There are several databases and resources available for retrieving information on the PKHD1 gene and its variants. These databases provide valuable information on the genetic changes associated with polycystic kidney disease.
Here are some gene and variant databases that contain information on PKHD1:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on various genetic diseases, including polycystic kidney disease. It contains detailed descriptions of the PKHD1 gene, its variants, and related diseases. OMIM also provides references to scientific articles and other resources related to PKHD1.
- PubMed: PubMed is a popular scientific database that contains a vast collection of scientific articles. By searching for the PKHD1 gene or its variants in PubMed, one can find articles that discuss the genetic changes associated with polycystic kidney disease. PubMed provides citation information and abstracts for these articles.
- PKHD1 Genetic Testing Registry: This registry contains information on genetic testing services for PKHD1 variants. It provides details on laboratories offering PKHD1 testing and the specific variants they test for. The registry is a valuable resource for individuals seeking genetic testing for polycystic kidney disease.
In addition to these databases, there are other gene and variant databases that may contain information on PKHD1, such as the Human Gene Mutation Database. These databases can be searched for specific genetic changes or variant names associated with polycystic kidney disease.
It is important to note that the field of genetics is constantly evolving, and new discoveries are being made. Therefore, it is essential to keep up with the latest research and updates in the field. The references and resources listed in these databases can provide additional information on PKHD1 and its variants.
Further research and scientific investigation remain necessary to fully understand the PKHD1 gene and its role in polycystic kidney disease. Continued efforts in studying this gene and its variants will contribute to a better understanding of the disease and potential treatment options.
References
- Dornia, C. et al. (2009). Polyductin, polycystic kidney disease gene product, is a novel lectin of the secreted type with a unique pattern of expression. The American Journal of Pathology, 175(1), 362-373.
- Kirfel, J. et al. (2018). Autosomal recessive polycystic kidney disease and the PKHD1 gene: a comprehensive review. Frontiers in Pediatrics, 6, 387.
- Onuchic, L. F. et al. (2002). PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. The American Journal of Human Genetics, 70(5), 1305-1317.
- Databases, OMIM (Online Mendelian Inheritance in Man) (2019). PKHD1 gene. Retrieved from https://www.omim.org/entry/606702
- Polycystic Kidney Disease (PKD) Foundation (n.d). Polycystic kidney disease gene (PKHD1). Retrieved from https://pkdcure.org/pkd-research/genes-and-proteins/pkhd1/
- Genet, R. et al. (2019). A catalog of genetic testing for heritable kidney and urinary diseases. Nature Reviews Nephrology, 15(9), 561-590.
- Pubmed (n.d). PKHD1 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=PKHD1+gene
- Polycystic Kidney Disease Research Registry (2019). PKHD1 gene. Retrieved from https://pkd.umich.edu/genes-variants/pkhd1