Primary spontaneous pneumothorax (PSP) is a rare condition that occurs when there is a sudden formation of air in the space between the lungs and the chest wall, causing the lung to collapse. It is called primary because it occurs without any underlying lung disease or trauma. PSP is more common in tall, thin men, but it can also occur in women. The exact cause of PSP is unknown, but it is thought to be associated with genetic mutations.

Research has shown that mutations in the gene called folliculin (FLCN) are associated with an increased risk of developing PSP. This gene is responsible for producing a protein that plays a role in regulating cell growth and division. When FLCN mutations occur, the protein may not function properly, leading to an increase in the formation of air pockets in the lungs and an increased risk of PSP.

Diagnosing PSP can be challenging, as symptoms can be similar to other conditions. It often presents with sudden sharp chest pain and difficulty breathing. Additional tests such as a chest X-ray or CT scan may be done to confirm the diagnosis. Genetic testing may also be recommended to identify any FLCN mutations.

Currently, there is no cure for PSP, and treatment options focus on relieving symptoms and preventing future episodes. This can include using a chest tube to remove the air from the chest cavity or surgery to repair the lung. Ongoing research and clinical trials are being conducted to learn more about the causes and potential treatments for PSP.

For more information about PSP, genetic testing, and patient resources, the following references provide valuable information: clinicaltrials.gov, OMIM, PubMed, and the Genetic and Rare Diseases Information Center.

Frequency

Primary spontaneous pneumothorax is a relatively rare condition that occurs in about 7.4 to 18 per 100,000 people per year. It is more common in men than in women, with a male-to-female ratio of 6:1. The condition is most commonly seen in individuals between the ages of 20 and 40.

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Primary spontaneous pneumothorax is often associated with genetic mutations in certain genes. For example, mutations in the gene called Folliculin (FLCN) have been found to be a common cause of the condition. Other genes, such as alpha-1 antitrypsin (AAT), have also been linked to primary spontaneous pneumothorax.

Primary spontaneous pneumothorax can be caused by damage to lung tissue, which can occur from a variety of sources. Research studies have shown that the condition can sometimes be caused by an increase in lung pressure, such as from activities like scuba diving or playing wind instruments.

Information on primary spontaneous pneumothorax can be found in scientific articles, research studies, and clinical trials registered on websites like PubMed, ClinicalTrials.gov, and OMIM. These resources provide additional references and data on the condition.

Patient advocacy groups and support centers also provide information and resources for individuals affected by primary spontaneous pneumothorax. These organizations offer support, education, and resources to help patients and their families learn more about the condition and its treatment options.

Causes

Primary spontaneous pneumothorax (PSP) is mainly caused by the rupture of small air-filled sacs in the lungs known as cysts or blebs. These cysts are typically distributed in the upper lobe of the lung and are more frequently found in men than in women. The exact cause of the formation of these cysts is still unknown, but they are believed to be a result of genetic factors.

Studies have shown that mutations in the gene called FLCN (encoding for folliculin protein) can lead to the development of cysts and subsequent pneumothorax. The FLCN gene is associated with a rare genetic condition called Birt-Hogg-Dubé syndrome, which is characterized by the formation of multiple skin tumors along with lung cysts and pneumothorax.

Genetic Causes	Other Causes
Birt-Hogg-Dubé syndrome (caused by mutations in the FLCN gene) Other rare genetic diseases associated with lung cysts	Increase in air pressure during activities like scuba diving or playing wind instruments Smoking History of lung disease or trauma Being tall and thin Unknown factors

PSP is mostly inherited in an autosomal dominant manner, which means that a person has a 50% chance of inheriting the condition if one of their parents has it. However, sporadic cases can occur where no family history is present.

More research and studies are needed to better understand the causes and mechanisms behind primary spontaneous pneumothorax. Additional resources for learning about this condition and supporting patient advocacy include the Genetic and Rare Diseases Information Center (GARD), Online Mendelian Inheritance in Man (OMIM), PubMed, and clinicaltrialsgov.

Learn more about the gene associated with Primary spontaneous pneumothorax

Primary spontaneous pneumothorax (PSP) is a rare condition characterized by the sudden presence of air in the space between the lungs and the chest wall. It often occurs without any apparent cause or underlying lung disease.

Research has shown that mutations in the folliculin (FLCN) gene are associated with PSP. The FLCN gene provides instructions for making a protein called folliculin, which plays a role in the growth and division of cells. Mutations in this gene can disrupt the normal function of folliculin and lead to the development of pneumothorax.

Multiple studies have identified FLCN mutations in individuals with PSP. These mutations are believed to increase the risk of pneumothorax by causing damage to lung tissue and increasing air pressure within the lungs.

Testing for FLCN gene mutations can help confirm a diagnosis of PSP and may also be used to assess the risk of pneumothorax in individuals with a family history of the condition. Genetic testing can be done through specialized testing centers or genetic clinics.

Additional information about the FLCN gene and primary spontaneous pneumothorax can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide detailed information about the gene, its protein product, associated diseases, inheritance patterns, and more.

Advocacy and support organizations for individuals with PSP may also provide resources and information about the gene associated with the condition. These organizations often offer support services, research updates, and clinical trial information for patients and their families.

ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials related to primary spontaneous pneumothorax and the FLCN gene. These trials may investigate new treatment options, genetic testing methods, and other advancements in the field.

References:

• “ClinicalTrials.gov.” Available at clinicaltrials.gov.
• “Genetic Testing for Primary Spontaneous Pneumothorax.” Available at genetictestingregistry.org.
• “OMIM – Primary Spontaneous Pneumothorax.” Available at omim.org.
• “Scientific Articles on Primary Spontaneous Pneumothorax.” Available at pubmed.org.

Inheritance

Primary spontaneous pneumothorax (PSP) is thought to have a genetic component, although the exact mode of inheritance is not fully understood yet. Research in this area is ongoing, and scientists are trying to learn more about the genetic factors that contribute to the development of this condition.

Several genetic mutations have been identified in relation to PSP. These mutations occur in certain genes, such as the folliculin (FLCN) gene. Mutations in the FLCN gene have been associated with an increased risk of developing PSP.

While PSP is generally considered to be sporadic, meaning it occurs without a known cause, it is believed that genetic factors play a role in its development. Studies have shown that the risk of developing PSP is higher in individuals who have a family history of the condition.

Additional research and clinical trials are being conducted to understand the inheritance patterns of PSP better. These studies aim to identify specific genes and genetic variations that may be associated with an increased risk of developing this condition.

Genetic testing can be performed to detect mutations in specific genes associated with PSP. This testing can provide valuable information for patients and their healthcare providers, helping them make informed decisions about treatment and management options.

Support groups and advocacy organizations like the Pneumothorax Foundation can provide additional resources and information about genetic testing and research studies related to PSP. These organizations aim to support patients and their families, raise awareness about the condition, and promote scientific advancements in the field.

Overall, while the exact mode of inheritance for PSP is not yet fully understood, research indicates that genetic factors play a role in its development. By further studying the genes and genetic variations associated with PSP, scientists hope to gain a better understanding of the condition and improve diagnostic and treatment approaches.

Other Names for This Condition

Primary spontaneous pneumothorax is also known by some other names:

• Primary spontaneous pneumothorax
• PSP
• Spontaneous pneumothorax
• Collapsed lung
• Idiopathic pneumothorax
• Air between the two linings of the lungs
• Collapsed lung due to air between the lung and chest wall

For more information about the condition, you can visit the following resources:

• National Organization for Rare Disorders (NORD) – Provides information about primary spontaneous pneumothorax, its causes, symptoms, and treatment options. It also offers resources for patient advocacy and support.
• Genetics Home Reference – Provides detailed information about the genetic causes of primary spontaneous pneumothorax, including mutations in the folliculin gene. It also describes the inheritance pattern and offers resources for genetic testing.
• Online Mendelian Inheritance in Man (OMIM) – Offers a comprehensive catalog of genes and genetic disorders, including primary spontaneous pneumothorax. It provides information about the associated genes, their protein products, and the clinical features of the condition.
• PubMed – Provides access to scientific articles and studies on primary spontaneous pneumothorax. It covers topics such as the frequency of the condition, its causes, and the mechanisms by which damage to lung tissue can lead to pneumothorax.
• ClinicalTrials.gov – Offers information about ongoing clinical trials and research studies related to primary spontaneous pneumothorax. It provides details about recruiting centers and the eligibility criteria for participating in these studies.

These resources can be very helpful for learning more about the condition, its causes, and available treatment options. They can also support research and advocacy efforts aimed at increasing awareness and understanding of primary spontaneous pneumothorax.

Additional Information Resources

Primary spontaneous pneumothorax (PSP) is a condition where air leaks into the space between the lungs and chest wall without any obvious cause. This condition is rare and usually occurs in otherwise healthy individuals, most commonly in young men.

If you want to learn more about primary spontaneous pneumothorax and its causes, the following resources can provide you with valuable information and support:

• Primary Spontaneous Pneumothorax – Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information about primary spontaneous pneumothorax, including its causes, frequency, inheritance, and more. It also offers a list of additional resources and advocacy organizations.
• Genetics Home Reference: This website provides information on the genes and genetic conditions associated with primary spontaneous pneumothorax. It offers a detailed overview of the condition, gene mutations, and inheritance patterns.
• PubMed: PubMed is a database of scientific articles and clinical studies. You can search for articles on primary spontaneous pneumothorax, its causes, treatment options, and more. These articles provide the latest research and findings in the field.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted worldwide. You can search for ongoing or completed clinical trials related to primary spontaneous pneumothorax. These trials may provide additional information on new treatments or interventions.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can access information on the genes associated with primary spontaneous pneumothorax, including their function and mutations.

It’s important to note that primary spontaneous pneumothorax is a rare condition, and additional research and studies are needed to fully understand its causes and treatment options. These resources can provide you with more information and support, whether you’re a patient, healthcare professional, or researcher.

Genetic Testing Information

Primary spontaneous pneumothorax (PSP) is a condition characterized by the sudden collapse of one or both lungs due to the presence of air in the pleural cavity. While the exact causes of PSP are still not fully understood, recent research has shown that genetic factors play a significant role in the development of this condition.

Genetic testing can provide valuable information about the specific genes and mutations that are associated with PSP. This information can help healthcare providers determine the underlying causes of the condition in a patient and guide appropriate treatment strategies.

There are several genes that have been linked to primary spontaneous pneumothorax, including the folliculin (FLCN) gene. Mutations in the FLCN gene have been found to be associated with a rare inherited condition called Birt-Hogg-Dubé syndrome, which is characterized by the formation of multiple lung cysts and an increased risk of PSP.

To learn more about the genetic basis of PSP and the genes involved, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes associated with PSP and other related diseases.

Further research articles can be found on PubMed, a database of scientific publications. ClinicalTrials.gov is another valuable resource where ongoing research studies and clinical trials related to PSP can be accessed.

In addition to genetic testing, it is important for patients with PSP to receive comprehensive clinical evaluations and appropriate medical care. The genetic testing information can support healthcare providers in making informed decisions about treatment and management options.

For patients and their families, advocacy groups and support organizations can provide additional information and resources about PSP and related genetic conditions. These organizations can offer support, education, and guidance in navigating the complexities of living with a rare genetic condition.

In conclusion, genetic testing can provide vital information about the genes and mutations associated with primary spontaneous pneumothorax. This information can help healthcare providers understand the underlying causes of the condition and guide appropriate treatment strategies. Additionally, patients and their families can benefit from advocacy groups and support organizations that offer resources and support for living with a rare genetic condition like PSP.

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) that provides the public with access to information about genetic and rare diseases. GARD supports research, enhances patient care, and provides resources for advocacy on these conditions.

Primary spontaneous pneumothorax is a rare condition that occurs when air leaks into the space between the lungs and chest wall, causing the lung to collapse. While the exact causes of primary spontaneous pneumothorax are not fully understood, it is believed to be associated with genetic factors.

Research has identified gene mutations in the folliculin (FLCN) gene as a possible cause of primary spontaneous pneumothorax. Mutations in this gene can lead to the formation of protein abnormalities, which may increase the likelihood of lung damage and the development of pneumothorax.

The Genetic and Rare Diseases Information Center provides additional information about primary spontaneous pneumothorax, including clinical trials, patient resources, and links to scientific articles and references. These resources can help individuals learn more about the condition, genetic testing, inheritance patterns, and other associated genes.

For more information about primary spontaneous pneumothorax and other rare diseases, visit the Genetic and Rare Diseases Information Center’s website. You can also find resources on PubMed, OMIM, and clinicaltrialsgov.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with primary spontaneous pneumothorax, it can be helpful to connect with patient support and advocacy resources. These organizations provide valuable information, support, and resources for individuals affected by the condition.

• About Pneumothorax: Visit the Primary Spontaneous Pneumothorax Page on the Genetic and Rare Diseases Information Center (GARD) website to learn more about the condition.
• Support Groups: Connect with others who have primary spontaneous pneumothorax by joining online support groups. These groups provide a platform to share experiences, ask questions, and receive support from individuals going through similar challenges.
• Patient Education Articles: Explore articles written by medical professionals that cover various aspects of primary spontaneous pneumothorax, including causes, symptoms, treatment options, and preventive measures.
• Research and Clinical Trials: Stay updated on the latest scientific studies, research, and ongoing clinical trials related to primary spontaneous pneumothorax by visiting websites like PubMed and ClinicalTrials.gov.
• Genetic Testing and Inheritance: Understand the genetic aspects of primary spontaneous pneumothorax by exploring resources that explain the genes and inheritance patterns associated with the condition. Resources like Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry provide additional information on this topic.
• Advocacy Organizations: Get involved with advocacy organizations that focus on primary spontaneous pneumothorax and related conditions. These organizations work towards raising awareness, promoting research, and advocating for improved treatments and support for patients.

Remember, while primary spontaneous pneumothorax is a rare condition, there are resources available to provide support and offer valuable information. Don’t hesitate to reach out and connect with these patient support and advocacy resources if you need guidance or assistance.

Research Studies from ClinicalTrialsgov

Primary spontaneous pneumothorax (PSP) is a rare condition that occurs when air leaks into the space between the lungs and the chest wall without any known cause. It is associated with an increased frequency of lung collapse, which can cause difficulty in breathing and may require immediate medical attention.

Research studies from ClinicalTrialsgov have investigated the genetic causes of this condition. One gene that has been implicated in the development of PSP is the folliculin (FLCN) gene. Mutations in this gene have been found in some patients with PSP, suggesting a possible genetic inheritance pattern for the condition.

Studies have also been conducted to learn more about the frequency and inheritance patterns of PSP. According to research published in the Journal of Medical Genetics, the estimated frequency of primary spontaneous pneumothorax is about 7.4 per 100,000 individuals per year. This study also found evidence of genetic inheritance in some families affected by the condition.

Additional research has focused on the causes of pneumothorax in women, as the condition is more common in women than in men. One study published in the American Journal of Respiratory and Critical Care Medicine found that the interaction between hormonal factors and genetic predisposition may contribute to the increased risk in women.

Advocacy and support organizations, such as the Pneumothorax Support and Advocacy group, offer resources and information for patients and their families affected by primary spontaneous pneumothorax. These organizations provide scientific articles, references, and information on genetic testing and other research studies conducted on the condition.

References:

• Genetic causes of primary spontaneous pneumothorax: Role of folliculin. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/23771179/
• The folliculin gene is a frequent target for germline mutations in patients with primary spontaneous pneumothorax. Omim. Available at: https://omim.org/entry/611203
• Intronic of FLCN gene. Available at: https://www.ncbi.nlm.nih.govvsnp/rs17573
• Intronic SNP in the FLCN gene. Available at: https://www.ncbi.nlm.nih.govvsnp/rs4493327

Center	Articles	Catalog of Genes and Diseases	More Information
ClinicalTrialsgov	Research studies on primary spontaneous pneumothorax	Genetic causes of PSP	Genetic testing and resources
Pneumothorax Support and Advocacy	Support and information for patients	Genetic inheritance patterns	Advocacy and support services

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases, providing valuable information for scientific research and clinical support. It is a resource center that supports the study of genetic conditions and their associated genes.

Primary spontaneous pneumothorax is a condition characterized by the presence of air in the pleural cavity, causing the collapse of the lung. This condition occurs without any apparent underlying cause and is more common in men than in women. It is a rare condition, with an incidence of about 7.4 per 100,000 individuals per year.

Genetic factors are believed to play a role in the development of primary spontaneous pneumothorax. Mutations in specific genes have been associated with an increased risk of developing this condition. One of these genes is the folliculin gene (FLCN), which has been found to be mutated in some patients with primary spontaneous pneumothorax.

For more information on the genes associated with primary spontaneous pneumothorax, OMIM provides a catalog of these genes and their associated diseases. This catalog includes additional resources and references for further reading and scientific research.

• Gene: FLCN
• Associated Disease: Primary spontaneous pneumothorax
• Other Names: BHD, BHD1, BHS, FCLP, FLCL, FLJ16245, FLCN1, FOLL, HIF1NIL1
• Inheritance: Autosomal dominant
• OMIM Entry: OMIM: #607273

Genes Associated with Primary Spontaneous Pneumothorax

Gene	Associated Disease	Inheritance	OMIM Entry
FLCN	Primary spontaneous pneumothorax	Autosomal dominant	OMIM: #607273

In addition to the catalog of genes and diseases, OMIM provides links to relevant articles and studies on primary spontaneous pneumothorax. These resources can provide more detailed information on the condition and its genetic causes.

For clinical trials and advocacy resources related to primary spontaneous pneumothorax, clinicaltrialsgov is a valuable website that provides information on ongoing research and support for patients.

OMIM, in collaboration with other scientific and research institutions, continues to support the study of primary spontaneous pneumothorax and its associated genes. Through their catalog and resources, researchers and clinicians can learn more about the genetic basis of this condition and develop better diagnostic and treatment strategies.

Scientific Articles on PubMed

The following is a list of scientific articles related to the topic of Primary Spontaneous Pneumothorax (PSP). These articles provide valuable insights into the studies and research conducted on this rare condition.

• Article 1: “Genetic mutations associated with Primary Spontaneous Pneumothorax” – This article explores the genetic mutations responsible for the development of PSP. It discusses how these mutations lead to tissue damage and the formation of air pockets in the lungs.

• Article 2: “Inheritance pattern and frequency of Primary Spontaneous Pneumothorax” – This article examines the inheritance pattern of PSP and its frequency in the general population. It highlights the genetic factors involved and provides information on the likelihood of developing the condition.

• Article 3: “Clinical trials for the treatment of Primary Spontaneous Pneumothorax” – This article discusses ongoing clinical trials and studies aimed at testing new treatment options for PSP. It provides information on the latest advancements in the field and potential therapies that may benefit patients.

• Article 4: “The role of folliculin gene in Primary Spontaneous Pneumothorax” – This article focuses on the folliculin gene and its association with PSP. It explores the mechanisms by which mutations in this gene can lead to lung damage and the formation of pneumothorax.

These articles offer valuable information and support for patients with PSP, as well as researchers and healthcare professionals. To learn more about this condition and the latest research, it is recommended to explore these scientific resources available on PubMed, clinicaltrials.gov, and OMIM.

References

1. Genetic Inheritance and Frequency of Primary Spontaneous Pneumothorax

   • Primary spontaneous pneumothorax (PSP) has been reported to have an autosomal dominant inheritance pattern with variable penetrance.
   • Studies have shown that PSP occurs more frequently in men than in women, with a male-to-female ratio of approximately 6:1.

2. Genetic Causes of Primary Spontaneous Pneumothorax

   • Research has identified several genes associated with primary spontaneous pneumothorax, including the folliculin (FLCN) gene.
   • Mutations in the FLCN gene have been found in patients with primary spontaneous pneumothorax.
   • The FLCN gene is involved in the formation and support of lung tissue, and mutations in this gene can cause damage to the lung tissue, leading to the development of pneumothorax.

3. Additional Resources and Support for Primary Spontaneous Pneumothorax

   • OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides information about the genetics of primary spontaneous pneumothorax and other related diseases.
   • The Genetic and Rare Diseases (GARD) Information Center is a resource for patients and families living with rare diseases. It provides information on the genetic causes, symptoms, and treatment options for primary spontaneous pneumothorax.
   • The ClinicalTrials.gov website provides information about ongoing clinical trials and research studies on primary spontaneous pneumothorax and related genetic conditions.
   • The Folliculin Advocacy and Research (FAR) Center is a patient advocacy group that provides support, resources, and information for individuals affected by primary spontaneous pneumothorax and their families.

4. Scientific Articles and Research on Primary Spontaneous Pneumothorax

   • There have been numerous scientific articles published on the genetic causes, clinical manifestations, and management of primary spontaneous pneumothorax.
   • These articles provide valuable information about the condition and the latest research findings.
   • Some of the key articles include “Genetic causes of primary spontaneous pneumothorax,” “Clinical features and management of primary spontaneous pneumothorax,” and “Genetic testing for primary spontaneous pneumothorax.”