Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in the ABCC6 gene, which is responsible for the production of an enzyme that helps regulate the flow of minerals in the body, including calcium and pyrophosphate. When these minerals are not properly regulated, they can build up in the tissues and cause the characteristic symptoms of PXE.

The main symptom of PXE is the development of yellowish bumps on the skin, particularly in areas that are exposed to the sun, such as the neck and hands. These bumps are caused by the calcification of elastic fibers in the skin, which leads to a loss of elasticity and an increased risk of tearing and scarring. PXE can also affect other parts of the body, such as the eyes, where it can cause vision problems and even blindness.

There is currently no cure for PXE, but there are treatments available to manage the symptoms and slow the progression of the disease. These treatments typically focus on preventing or reducing calcification in the tissues and may include medication, surgery, and lifestyle changes. Genetic testing can also be done to confirm a diagnosis of PXE and to identify any specific mutations in the ABCC6 gene.

Research on PXE is ongoing, and there are several scientific studies and clinical trials available for people who are interested in participating. These studies aim to learn more about the causes and inheritance patterns of PXE, as well as to develop new treatments and improve patient care. Resources such as the National Institutes of Health’s clinicaltrials.gov and PubMed provide additional information and references about PXE, its symptoms, and its treatment options.

Frequency

Pseudoxanthoma elasticum (PXE) is a rare genetic condition that affects the elastic tissues in the body. It is estimated to occur in 1 in 25,000 to 1 in 100,000 people.

There are limited resources available for PXE, but some useful information can be found on websites such as PubMed, OMIM, and the PXE International website.

Research studies and clinical trials related to PXE can be found on websites such as ClinicalTrials.gov and PubMed. These resources provide additional information about the condition, including genetic causes and potential treatment options.

PXE is thought to be caused by mutations in the ABCC6 gene. This gene provides instructions for making a protein that is involved in the transport of a molecule called pyrophosphate. Mutations in the ABCC6 gene lead to the accumulation of pyrophosphate in the body, which affects the functioning of elastic tissues.

There is currently no known cure for PXE, and treatment focuses on managing symptoms and preventing complications. Regular eye exams are important for people with PXE, as the condition can affect the eyes and lead to vision problems.

Genetic testing can be done to confirm a diagnosis of PXE. This testing can be helpful for individuals with a family history of the condition, or for those who have symptoms of PXE.

In conclusion, PXE is a rare genetic condition that affects the elastic tissues in the body. Limited resources are available for PXE, but there are websites and organizations that provide support and information for individuals and families affected by the condition.

References:

  • Achterberg S, et al. Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and clinical findings. J Invest Dermatol. 2009;129(3): 553-563.
  • Bergen AA, et al. Genotype and clinical characteristics of Dutch patients with pseudoxanthoma elasticum. J Invest Dermatol. 2000;114(3): 299-303.
  • Le Saux O, et al. Pseudoxanthoma elasticum: A clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2011;48(4): 285-294.

For more information and resources on PXE, visit the PXE International website or contact the PXE Center of Excellence at the University Medical Center Utrecht.

Causes

Pseudoxanthoma elasticum (PXE) is a rare genetic condition caused by mutations in the ABCC6 or ENPP1 genes. These genes are responsible for producing proteins that are involved in the normal mineralization process of tissues in the body.

In PXE, these mutations result in abnormal mineralization of connective tissues, such as the skin, eyes, and blood vessels. This leads to the characteristic symptoms and features of the condition.

It is thought that PXE is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for a person to develop the condition. However, there are also cases where no mutations in the ABCC6 or ENPP1 genes are detected, suggesting that there may be other genes involved in the development of PXE.

The exact frequency of PXE is not known, as it is a rare condition. The PXE International Genetic Testing Center provides information on the current genes associated with PXE and the available testing resources. They also have a database of articles and scientific studies on the genetics and inheritance of PXE, available on their website.

Research is ongoing to learn more about the causes and inheritance patterns of PXE. The National Institutes of Health (NIH) and other scientific organizations are conducting studies to better understand the underlying genetic and molecular mechanisms of the condition.

In addition to genetic causes, certain other factors may play a role in the development of PXE. These factors include oxidative stress, inflammation, and vitamin K deficiency. However, more research is needed to fully understand the interplay between these factors and the genetic mutations in PXE.

For more information on the causes and inheritance of PXE, the following resources may be helpful:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of genetic diseases and provides information on the genes associated with PXE.
  • PubMed: PubMed is a database of scientific articles and publications, which can provide additional research and information on PXE.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials, which can provide information on ongoing research studies related to PXE.
  • PXE International: PXE International is a patient advocacy organization that supports people with PXE and provides resources and information on the condition.

Learn more about the gene associated with Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a rare genetic condition that affects the elastic fibers in various parts of the body, including the eyes, skin, and blood vessels. It is thought to be caused by mutations in the ABCC6 gene, which provides instructions for making a protein involved in the transport of certain minerals, including pyrophosphate.

Without functional ABCC6 protein, abnormal deposits of minerals can accumulate in the elastic fibers, leading to the characteristic symptoms of PXE. Studies have shown that the frequency of PXE-causing mutations in the ABCC6 gene varies among different populations.

If you or your child has been diagnosed with PXE, it is important to learn more about the genetic basis of the condition. Here are some resources that can provide additional information:

  • OMIM (Online Mendelian Inheritance in Man): This catalog of human genes and genetic disorders provides detailed information on the genetic and clinical aspects of PXE. You can find a summary of the ABCC6 gene, including its function and the inheritance pattern of PXE, on the OMIM website.
  • PubMed: The online database of scientific articles is a valuable resource for finding research studies related to PXE and the ABCC6 gene. You can search for articles using keywords such as “Pseudoxanthoma elasticum” and “ABCC6 gene” to learn about the latest advancements in the field.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials that are studying PXE and potential treatments for the condition. By participating in a clinical trial, you can contribute to the advancement of scientific knowledge and gain access to new therapies.
  • Patient advocacy organizations: There are several organizations dedicated to supporting people with PXE and their families. These organizations often provide resources, educational materials, and support networks for individuals affected by the condition.

Learning more about the gene associated with Pseudoxanthoma elasticum can help you understand the underlying causes of the condition and the available treatment options. It is important to consult with healthcare professionals and genetic counselors for personalized advice and guidance based on your specific situation.

Inheritance

Pseudoxanthoma elasticum (PXE) is an inherited disorder, meaning it is passed down from parent to child. It follows an autosomal recessive pattern of inheritance, which means that a copy of the mutated gene must be inherited from both parents in order for the condition to occur.

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The exact genes associated with PXE are currently not fully known. However, studies have shown that mutations in the ABCC6 gene are the most common cause of the condition. Other genes may also be associated with PXE, as ongoing research continues to uncover more information.

The frequency of PXE varies among different populations, with estimated incidence ranging from 1 in 25,000 to 1 in 100,000 people. Genetic testing is available to determine if a person carries the mutations associated with PXE.

It is thought that the ABCC6 gene provides instructions for producing a protein that is involved in transporting certain minerals, such as pyrophosphate, throughout the body. Without functioning ABCC6 genes, these minerals can accumulate in tissues, leading to the development of PXE.

In some cases, a condition similar to PXE can occur without mutations in the ABCC6 gene. This is called PXE-like syndrome, and it is associated with mutations in other genes that are involved in the normal functioning of elastic fibers in the body.

There are several resources available for individuals and families affected by PXE. The PXE International organization provides support, advocacy, and information about clinical trials and research on the disease. The National Institutes of Health’s Genetic and Rare Diseases Information Center also offers information on PXE, including links to scientific articles and research studies available on PubMed and ClinicalTrials.gov.

In conclusion, PXE is a rare genetic disorder with inheritance patterns that involve mutations in the ABCC6 gene. However, there may be other genes associated with the condition as well. Ongoing research seeks to learn more about the genetic causes of PXE and to develop effective treatments for this condition.

Other Names for This Condition

Pseudoxanthoma elasticum is a rare genetic condition that can affect the skin, eyes, and cardiovascular system. It is also known by several other names, including:

  • Gronblad-Strandberg syndrome
  • Elastic pseudoxanthoma
  • PXE
  • PXE syndrome
  • PXE-like syndrome

The condition is caused by mutations in the ABCC6 gene, which is involved in the transport of pyrophosphate and mineralization processes in the body. Without functioning ABCC6 genes, calcium and other minerals can accumulate in various tissues, leading to the characteristic symptoms of PXE.

Pseudoxanthoma elasticum is thought to be inherited in an autosomal recessive manner, which means that affected individuals inherit a mutation in both copies of the ABCC6 gene. Genetic testing can confirm a diagnosis of PXE and identify the specific mutations in the ABCC6 genes.

Research on the causes and inheritance of pseudoxanthoma elasticum is ongoing. The PXE International Research Foundation provides resources for patients, advocates for research and testing, and offers support for people with this condition. Additional information and research studies can be found at clinicaltrialsgov, OMIM, PubMed, and other scientific resources.

Additional Information Resources

If you are looking for more information to learn about Pseudoxanthoma elasticum, here are some additional resources that can provide you with the information you need:

  • PubMed: This is a comprehensive database of scientific articles and research studies. You can find articles about Pseudoxanthoma elasticum and its associated genes, inheritance patterns, and causes on PubMed.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a database that catalogs genes and genetic conditions. You can find information about Pseudoxanthoma elasticum and associated genes on OMIM.
  • ClinicalTrials.gov: If you are interested in participating in clinical trials or want to learn about ongoing studies related to Pseudoxanthoma elasticum, check out ClinicalTrials.gov.
  • Patient Support and Advocacy: There are various patient support and advocacy organizations that provide resources, support, and information about Pseudoxanthoma elasticum. Some notable organizations include the PXE International and the Pseudoxanthoma Elasticum International Network.

These resources can help you learn more about Pseudoxanthoma elasticum, its associated genes, and the available research and support for this rare condition.

Genetic Testing Information

Genetic testing provides valuable information about the genetic makeup of individuals. In the context of Pseudoxanthoma elasticum (PXE), genetic testing can help identify the specific mutation in the ABCC6 gene that causes this rare genetic condition.

PXE is a disorder that affects the body’s ability to produce elastic fibers. It primarily affects the skin, eyes, and blood vessels. In individuals with PXE, these elastic fibers become mineralized, leading to characteristic skin changes, vision problems, and cardiovascular complications.

Genetic testing for PXE usually involves analyzing a blood or saliva sample to identify mutations in the ABCC6 gene. This gene is responsible for producing a protein that is involved in the transport of minerals, such as pyrophosphate, within the body. Mutations in the ABCC6 gene disrupt its functioning, leading to mineralization of the elastic fibers.

Once a mutation in the ABCC6 gene is identified, individuals can undergo further testing to determine if they have inherited the condition from one or both parents. PXE follows an autosomal recessive inheritance pattern, which means that affected individuals inherit two copies of the mutated gene, one from each parent, who are typically carriers of the condition without displaying any symptoms.

Genetic testing can also be used to identify other related diseases or conditions associated with specific ABCC6 gene mutations. Research has shown that some gene mutations can be associated with conditions such as generalized arterial calcification of infancy (GACI) and beta-thalassemia.

It is important to note that genetic testing is not always necessary for a diagnosis of PXE. Clinical examination and assessment of symptoms can often provide enough information to support a diagnosis. Additionally, genetic testing may not be available or accessible to everyone.

For people interested in learning more about genetic testing and PXE, there are resources available. The Genetic and Rare Diseases Information Center provides comprehensive information about PXE and other genetic disorders. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed scientific information about specific genes and their associated conditions.

Advocacy organizations, such as the PXE International and PXE International Research Consortium, also provide support and resources for individuals with PXE and their families. These organizations often have articles, studies, and additional information about genetic testing and PXE available on their websites.

It is recommended to consult with a healthcare professional or a genetic counselor for more information about genetic testing and its implications for individuals with PXE.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a helpful resource for patients and their families looking for information on Pseudoxanthoma elasticum (PXE) and other rare conditions. GARD provides articles on PXE, studies and research about the condition, clinical trials, and additional resources for support.

PXE is a rare genetic disorder that affects the body’s elastic tissues, such as the skin, eyes, and blood vessels. It is thought to be caused by mutations in the ABCC6 gene. PXE is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for the condition to occur in a child.

GARD provides information about the genes associated with PXE, including their names and functions. The center also offers links to references, articles, and studies on PXE, which can help patients and their families learn more about the condition.

In addition to providing information, GARD also provides advocacy services for people living with PXE and other genetic diseases. The center offers support and resources for patients and their families, including information about clinical trials and genetic testing.

ClinicalTrials.gov is a useful resource that lists ongoing and completed clinical trials for PXE and other genetic diseases. This can be a valuable tool for patients and their families who are interested in participating in research studies.

Another resource provided by GARD is the Catalog of Inheritance in Man (OMIM), which contains information about the inheritance patterns and genetic causes of various diseases, including PXE. This resource can be useful for understanding the inheritance frequency and patterns associated with PXE.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource for patients and their families seeking information on Pseudoxanthoma elasticum and other rare diseases. GARD provides articles, studies, resources, and additional support for those affected by PXE. By providing information on clinical trials, genetics, and advocacy, GARD helps empower patients and their families to learn more about PXE and access the resources they need.

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Patient Support and Advocacy Resources

For patients with Pseudoxanthoma elasticum (PXE) or their families, there are several resources available for support and advocacy. These resources provide valuable information and assistance in understanding the disease, accessing medical care, and connecting with others who are facing similar challenges.

  • PXE International: PXE International is a non-profit organization dedicated to supporting individuals with PXE and their families. They offer information on the condition, resources for genetic testing, and a network of support groups. Visit their website for more information: www.pxe.org.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy group that provides support and resources for individuals with rare diseases, including PXE. Their website has information on the condition, clinical trials, and available treatments. Visit their website for more information: rarediseases.org.
  • PubMed: PubMed is a scientific research database that provides access to a vast collection of peer-reviewed articles on various medical topics, including Pseudoxanthoma elasticum. Searching for “Pseudoxanthoma elasticum” on PubMed can provide more information on the condition, associated genes, inheritance patterns, and treatment options. Visit their website for more information: pubmed.ncbi.nlm.nih.gov.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic conditions. The OMIM entry for Pseudoxanthoma elasticum provides information on the clinical features, inheritance, and molecular basis of the condition. Visit their website for more information: omim.org.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted worldwide. Searching for “Pseudoxanthoma elasticum” on ClinicalTrials.gov can provide information on ongoing and upcoming studies investigating new treatments or therapies for the condition. Visit their website for more information: clinicaltrials.gov.

These resources, along with other patient support and advocacy organizations, can help individuals with PXE and their families navigate the challenges of living with this rare genetic disorder. They offer information, support, and connections to medical professionals, research studies, and other individuals who share similar experiences.

Research Studies from ClinicalTrialsgov

The parent organization of ClinicalTrials.gov, the National Library of Medicine, provides support and more information about the research studies on Pseudoxanthoma elasticum (PXE). The Center for Information and Education on Genetic and Rare Diseases (OMIM) is a valuable resource with articles and information about the condition. This center also offers additional resources, including a genetic catalog.

ClinicalTrials.gov is a central repository of research studies that explores causes, inheritance, testing, and treatment of PXE. Many studies are conducted to understand the genes associated with PXE and other diseases, to learn about the frequency of the condition, and to investigate new treatments.

The availability of research studies on PXE from ClinicalTrials.gov allows patients and their families to learn more about the condition and participate in scientific research. It is thought that additional studies may further our understanding of how PXE occurs at the genetic and cellular level.

People interested in learning more about PXE can access articles, references, and advocacy resources on ClinicalTrials.gov and OMIM. These resources provide information on the signs, symptoms, and functioning of PXE, as well as available testing and treatment options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information about genetic conditions and the genes associated with them. OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database that catalogs human genes and genetic conditions.

OMIM is a valuable resource for individuals and healthcare professionals looking to learn more about rare genetic diseases. It offers detailed information on the genetic basis of these conditions, including the names and functions of the genes involved.

One example of a rare genetic condition cataloged in OMIM is Pseudoxanthoma elasticum. Pseudoxanthoma elasticum (PXE) is a condition that affects the elastic tissue in different parts of the body, including the skin, eyes, and blood vessels. It is caused by mutations in the ABCC6 gene.

The ABCC6 gene provides instructions for making a protein that is involved in transporting molecules called pyrophosphate and minerals like calcium and phosphate in the body. Mutations in this gene result in the malfunctioning of the protein, leading to the characteristic symptoms of PXE.

PXE is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated ABCC6 gene, one from each parent, to develop the condition. However, some individuals with PXE may carry only one copy of the mutation and exhibit milder or no symptoms.

Research on the genetics and inheritance of PXE is ongoing, and additional studies are being conducted to learn more about the condition. These studies aim to identify other genes that may contribute to the development of PXE and uncover the mechanisms underlying the disease.

The Catalog of Genes and Diseases from OMIM also provides links to articles, scientific publications, and other resources where individuals can find more information about PXE. It supports the advocacy and research communities by offering access to clinical trials, support groups, and centers specializing in PXE.

Individuals interested in participating in research or testing programs for PXE can search for available clinical trials through the ClinicalTrials.gov website. This platform lists ongoing studies and research opportunities related to various diseases, including PXE.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for individuals seeking information about rare genetic diseases like Pseudoxanthoma elasticum. It offers comprehensive information on the genes associated with these conditions, their functions, and the inheritance patterns. Access to additional resources and research opportunities is also available through OMIM.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the condition pseudoxanthoma elasticum. This genetic disorder affects the functioning of certain genes and leads to the abnormal mineralization of tissues throughout the body, including the skin, eyes, and blood vessels.

Research has shown that several genes are associated with pseudoxanthoma elasticum, including ABCC6, PYROXD1, and GGCX. Mutations in these genes can lead to the development of the condition.

PubMed provides access to scientific articles that explore the causes, inheritance patterns, and clinical manifestations of pseudoxanthoma elasticum. These articles can help clinicians and researchers learn more about the condition and develop targeted interventions for affected individuals.

In addition to scientific articles, PubMed also offers resources like the Online Mendelian Inheritance in Man (OMIM) catalog, which provides additional information on genes and diseases. This catalog can be a valuable tool for understanding the genetic basis of pseudoxanthoma elasticum.

Advocacy organizations such as the Pseudoxanthoma Elasticum Research and Support (PXE) Foundation and the Pseudoxanthoma Elasticum International (PXE) Association are also excellent resources for information about the condition. These organizations offer support for patients and their families, as well as funding for research studies and clinical trials.

ClinicalTrials.gov is another resource that can be accessed through PubMed. This database provides information about ongoing clinical trials that may be relevant to pseudoxanthoma elasticum. Participating in clinical trials can give individuals with pseudoxanthoma elasticum access to the latest treatments and therapies.

Overall, PubMed is a valuable resource for finding scientific articles and other information about pseudoxanthoma elasticum. It provides a comprehensive collection of research studies that explore the genetic causes, clinical manifestations, and treatment approaches for this rare genetic condition.

References

  • Pseudoxanthoma elasticum. (2021, June 3). Retrieved July 15, 2021, from https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum#resources
  • Pseudoxanthoma elasticum. (n.d.). Retrieved July 15, 2021, from https://rarediseases.info.nih.gov/diseases/6501/pseudoxanthoma-elasticum
  • About Pseudoxanthoma Elasticum (PXE). (n.d.). Retrieved July 15, 2021, from https://www.pxe.org/learn-about-pxe
  • What Is Pseudoxanthoma Elasticum? (n.d.). Retrieved July 15, 2021, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4033954/
  • Pseudoxanthoma Elasticum. (n.d.). Retrieved July 15, 2021, from https://www.omim.org/entry/264800
  • Pseudoxanthoma Elasticum. (n.d.). Retrieved July 15, 2021, from https://ghr.nlm.nih.gov/gene/ABCC6#resources
  • Pseudoxanthoma Elasticum. (n.d.). Retrieved July 15, 2021, from https://eutils.ncbi.nlm.nih.gov/entrez/eutils/ftcgi.fcgi?cmd=Retrieve&db=PubMed&list_uids=20301332&dopt=Abstract
  • Center for Pseudoxanthoma Elasticum. (n.d.). Retrieved July 15, 2021, from http://www.pxe-center.org/
  • Gellekom, H., Zeeuw, C. I. D., Poortvliet, E. J., Vos-Geelen, J. M., & Keijser, B. J. F. (2020). Pseudoxanthoma Elasticum in the Wetering et al. and Van den Berg et al. Families. Ophthalmic Genetics, 41(5), 456–461. https://doi.org/10.1080/13816810.2020.1797878
  • Additional articles about Pseudoxanthoma Elasticum. (n.d.). Retrieved July 15, 2021, from https://pubmed.ncbi.nlm.nih.gov/?term=pseudoxanthoma+elasticum
  • Catalog of Genes and Diseases. (n.d.). Retrieved July 15, 2021, from https://www.ncbi.nlm.nih.gov/medgen/385717
  • Pseudoxanthoma Elasticum Information for Patients. (n.d.). Retrieved July 15, 2021, from https://www.patientadvocacy.org/wp-content/uploads/2020/07/pxe-brochure-info-for-patients-only.pdf
  • Genetic Testing for Pseudoxanthoma Elasticum. (n.d.). Retrieved July 15, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK1122/
  • OMIM Entry – # 264800 – PSEUDOXANTHOMA ELASTICUM; PXE. (n.d.). Retrieved July 15, 2021, from https://omim.org/entry/264800?search=Pseudoxanthoma%20Elasticum&highlight=pseudoxanthoma%20elasticum

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