Congenital plasminogen deficiency is a rare genetic condition that is characterized by a deficient or absent production of plasminogen, a protein that plays a key role in the dissolution of blood clots. The exact cause of this deficiency is unclear, but it is believed to be caused by mutations in the PLG gene.
The PLG gene provides instructions for making the plasminogen protein, which is found in many tissues and body fluids, including the blood, cornea, and conjunctiva. Plasminogen is activated to form plasmin, which helps break down fibrin, the protein that forms blood clots. Without sufficient levels of plasminogen, blood clots can form abnormally and can lead to various clinical manifestations.
Congenital plasminogen deficiency is a rare condition, with only a few hundred cases reported worldwide. It is typically inherited in an autosomal recessive manner, which means that an individual must inherit a mutated copy of the PLG gene from both parents to develop the condition. However, in some cases, the inheritance pattern may be more complex and additional genetic factors may be involved.
Diagnosis of congenital plasminogen deficiency is based on clinical symptoms, laboratory testing, and genetic studies. The condition can present with a range of symptoms, including abnormal wound healing, ligneous conjunctivitis (a rare condition characterized by the development of woody-like lesions on the conjunctiva), and other thrombotic events. Laboratory tests to measure plasminogen levels and activity can help confirm the diagnosis.
There is currently no cure for congenital plasminogen deficiency, and the treatment options are limited. Symptomatic treatment, such as the use of eye drops or surgical interventions, may be necessary to manage specific complications, such as ligneous conjunctivitis. Ongoing research and clinical trials are also investigating potential new therapies for this rare condition.
For more information about congenital plasminogen deficiency, you can visit resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrials.gov. These websites provide additional scientific articles, research studies, and patient advocacy information to support further learning about this rare genetic condition.
Frequency
Congenital plasminogen deficiency is a rare genetic condition. The frequency of this condition is unclear, as it is difficult to estimate due to its rarity. However, studies suggest that the prevalence is approximately 1 in 1 million individuals.
Plasminogen deficiency has been reported in different populations worldwide, and several names have been used to refer to this condition, including hypoplasminogenemia and type I plasminogen deficiency. The lack of a standardized nomenclature has made it challenging to catalog and compare cases from different centers.
The genetic mutations that cause congenital plasminogen deficiency have been identified in the plasminogen gene (PLG), located on chromosome 6q26-q27. Plasminogen is a protein that plays a crucial role in the fibrinolysis process, which handles the breakdown of blood clots. Different mutations in the PLG gene can lead to a functional or quantitative deficiency of plasminogen.
The clinical presentation of congenital plasminogen deficiency can vary. Some patients may be asymptomatic, while others may develop ocular symptoms such as ligneous conjunctivitis, which is characterized by the formation of white, woody-like pseudomembranes on the conjunctiva. Other manifestations include lesions in the cornea, abnormal wound healing, and an increased risk of thrombosis.
To confirm the diagnosis of congenital plasminogen deficiency, laboratory testing can be performed to measure plasminogen antigen levels and plasminogen activity. Genetic testing can also be undertaken to identify specific mutations in the PLG gene.
There is no cure for congenital plasminogen deficiency. Treatment aims to manage symptoms and prevent complications. This may include the administration of plasminogen concentrate, ophthalmic drops, or anticoagulant therapy for thrombosis prevention.
Research on congenital plasminogen deficiency is ongoing, and there are resources available to support patients and their families. The Plasminogen Deficiency Types I and II Genetic Diseases Information Center provides information, advocacy, and support to individuals affected by this condition.
Additional information on the frequency, clinical presentation, and genetic inheritance of congenital plasminogen deficiency can be found in articles published in scientific journals, such as those indexed in PubMed and OMIM. ClinicalTrials.gov is also a valuable resource for finding ongoing research studies related to this condition.
Causes
Congenital plasminogen deficiency is a rare genetic condition that results from mutations in the plasminogen gene. Plasminogen is a white, fluid protein that protects against abnormal blood clot formation and promotes the breakdown of fibrin, a protein that forms the structure of blood clots.
Studies have shown that individuals with congenital plasminogen deficiency have mutations in the plasminogen gene, but the exact genetic inheritance pattern and frequency of these mutations are unclear.
Research articles and clinical studies have identified several mutations in the plasminogen gene that are associated with congenital plasminogen deficiency. Some of these mutations lead to a complete absence of plasminogen, while others result in reduced levels or dysfunctional plasminogen.
The exact mechanism by which plasminogen mutations lead to the development of congenital plasminogen deficiency is not fully understood. However, it is believed that these mutations interfere with the production, processing, or function of plasminogen, leading to a deficiency of active plasmin and impaired fibrinolysis.
Currently, there is no specific line of treatment available for congenital plasminogen deficiency. Most treatments focus on managing the symptoms and preventing complications associated with abnormal blood clot formation.
Genetic testing can be performed to confirm a diagnosis of congenital plasminogen deficiency. This testing can identify specific mutations in the plasminogen gene and help determine the inheritance pattern of the condition.
Additional information about congenital plasminogen deficiency can be found in scientific research articles, genetic databases such as OMIM, and advocacy resources for rare diseases.
| Resources | Description |
|---|---|
| PubMed | A database of scientific articles and research studies |
| Genetic and Rare Diseases Information Center | An online catalog of genetic diseases and associated genes |
| ClinicalTrials.gov | A registry of clinical trials investigating treatments for various diseases |
With more research and genetic testing, scientists hope to learn more about the causes, inheritance patterns, and frequency of congenital plasminogen deficiency. This information can help develop better treatments and support resources for patients with this rare condition.
Learn more about the gene associated with Congenital plasminogen deficiency
Congenital plasminogen deficiency is a rare genetic condition characterized by the lack of plasminogen, a protein that plays a crucial role in the breakdown of blood clots. This condition can lead to various complications, including impaired wound healing, abnormal scar formation, and increased susceptibility to infections.
Testing for congenital plasminogen deficiency involves the analysis of the PLG gene, which provides instructions for producing plasminogen. Mutations in the PLG gene can disrupt the production or function of plasminogen, leading to the development of the condition.
Plasminogen deficiency can be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The frequency of this condition is currently unclear, as it is considered rare.
Additional research is necessary to understand the exact causes and inheritance patterns of congenital plasminogen deficiency. Genetic studies, clinical trials, and scientific articles can provide more information on this condition and the associated gene.
Patients with congenital plasminogen deficiency may experience various symptoms, such as white deposits in the cornea, abnormal conjunctiva, and recurrent infections. The severity and specific symptoms can vary among individuals.
There are resources available to support patients and their families, such as advocacy groups and genetic counseling centers. These organizations can provide valuable information and support regarding diagnosis, treatment, and management of the condition.
References and further reading:
- OMIM: The Online Mendelian Inheritance in Man database: https://omim.org/entry/217090
- Genetics Home Reference: https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency
- PubMed: Searching for “congenital plasminogen deficiency” articles: https://pubmed.ncbi.nlm.nih.gov/?term=congenital+plasminogen+deficiency
- ClinicalTrials.gov: Search for relevant clinical trials: https://clinicaltrials.gov/
- European Congenital Plasminogen Deficiency Registry: https://www.centraregistry.eu/home
By learning more about the gene associated with congenital plasminogen deficiency, individuals and healthcare professionals can better understand this rare condition and work towards improved diagnosis, treatment, and support for affected individuals.
Inheritance
Congenital plasminogen deficiency is a rare genetic condition that affects the body’s ability to produce plasminogen, a fluid in the blood that helps in the dissolution of blood clots. It is inherited in an autosomal recessive pattern, which means that both copies of the gene responsible for producing plasminogen must be mutated in order for the condition to develop.
Plasminogen is produced by the PLG gene and is essential for maintaining normal blood clotting. Mutations in the PLG gene can result in reduced or absent levels of plasminogen, leading to an increased risk of abnormal blood clotting and impaired wound healing.
There are different types of mutations in the PLG gene, and the severity of the deficiency can vary. In some cases, individuals with congenital plasminogen deficiency may have no symptoms, while others may develop various health problems such as recurrent infections, impaired vision, and delayed wound healing.
It is unclear how common congenital plasminogen deficiency is in the general population. More research and studies are needed to determine its frequency.
The condition is associated with various diseases, including ligneous conjunctivitis (a rare form of chronic conjunctivitis characterized by the development of white, woody pseudomembranes on the conjunctiva and other mucous membranes), ligneous periodontitis (a rare form of gum disease), and ligneous otitis media (a rare form of middle ear infection).
Genetic testing can confirm a diagnosis of congenital plasminogen deficiency. The PLG gene mutations can be identified through specialized genetic tests that analyze the patient’s DNA. ClinicalTrials.gov and PubMed are additional resources for information about genetic testing and ongoing research studies.
Treatment for congenital plasminogen deficiency aims to manage the symptoms and prevent complications. This may include regular administration of plasminogen concentrate, supportive care, and surgical interventions, if necessary.
For more information about the causes, symptoms, and treatment options for congenital plasminogen deficiency, the patient can seek support from organizations such as the Genetic and Rare Diseases Information Center (GARD), the World Federation of Hemophilia (WFH), and the Plasminogen Deficiency Foundation (PDF).
References:
- “Congenital deficit of plasminogen.” OMIM. Retrieved from https://omim.org/entry/217090
- “Congenital Plasminogen Deficiency.” Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/10084/congenital-plasminogen-deficiency
Other Names for This Condition
- Congenital plasminogen deficiency
- Plasminogen (PLG) deficiency, type I
- Dysplasminogenemia (rare)
- PLGD1
- PLG-deficiency
Congenital plasminogen deficiency is a rare genetic condition that causes a lack of plasminogen, a protein that plays an important role in blood clotting and the breakdown of blood clots. This condition is also known as plasminogen (PLG) deficiency, type I, or dysplasminogenemia (rare). However, it may be referred to by other names, such as PLGD1 or PLG-deficiency.
Congenital plasminogen deficiency is caused by mutations in the PLG gene, which is responsible for producing plasminogen. These genetic mutations can interfere with the production, function, or stability of plasminogen, leading to a deficiency of this protein in the body.
The inheritance pattern of congenital plasminogen deficiency is unclear, but it is thought to be autosomal recessive, meaning that an individual must inherit two copies of the mutated PLG gene (one from each parent) to develop the condition. However, additional research is needed to fully understand the genetic factors underlying this condition.
Clinical trials and scientific studies have found that congenital plasminogen deficiency is associated with a variety of clinical manifestations, including abnormal wound healing, compromised immune function, recurrent respiratory infections, and abnormal growth of blood vessels on the cornea and conjunctiva. These symptoms can vary in severity and may develop in infancy or later in life.
Diagnosis of congenital plasminogen deficiency involves genetic testing to identify mutations in the PLG gene. Additional testing may be done to evaluate plasminogen activity and concentration in the blood. If a diagnosis is suspected, it is recommended to seek consultation with a center specializing in disorders of hemostasis or thrombosis to confirm the diagnosis and determine appropriate treatment options.
Management of congenital plasminogen deficiency includes supportive care to address specific symptoms and complications. Treatment options may include the use of plasminogen replacement therapy to increase plasminogen levels and prevent the formation of abnormal blood clots. However, the effectiveness of this therapy is still being evaluated, and more research is needed to understand the long-term outcomes and potential benefits of treatment.
Patients and families affected by congenital plasminogen deficiency can find additional information and support through various resources, including advocacy organizations, research articles, and online databases. The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and genetic conditions, including congenital plasminogen deficiency. PubMed, a resource of the National Library of Medicine, offers access to scientific studies and articles on this condition. ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to congenital plasminogen deficiency.
Additional Information Resources
- The Plasminogen Deficiency Patient Advocacy Foundation provides support and information for patients with congenital plasminogen deficiency. Visit their website at www.plasminogen.org.
- The Genetic and Rare Diseases Information Center (GARD) provides information about this condition and other genetic diseases. Visit their website at rarediseases.info.nih.gov.
- OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. Learn more about congenital plasminogen deficiency at www.omim.org.
- PubMed is a database of scientific articles. Search for more research studies and articles about congenital plasminogen deficiency at pubmed.ncbi.nlm.nih.gov.
- ClinicalTrials.gov provides information on clinical trials. Stay updated on the latest clinical trials and developments for congenital plasminogen deficiency at www.clinicaltrials.gov.
- The Haemostasis and Thrombosis Research Society is a scientific organization focused on research and education in the field of blood coagulation and thrombosis. Find more information about congenital plasminogen deficiency at www.htrs.org.
Genetic Testing Information
Congenital plasminogen deficiency is a rare genetic condition caused by mutations in the plasminogen gene. This gene is responsible for producing plasminogen, a protein that plays a critical role in the breakdown of blood clots. Individuals with congenital plasminogen deficiency have lower levels or no plasminogen, which can lead to abnormal clot formation and a variety of health problems.
Genetic testing can be used to diagnose congenital plasminogen deficiency. This testing involves analyzing an individual’s DNA to identify mutations in the plasminogen gene. Genetic testing can provide valuable information about the causes of the condition and can help determine the inheritance pattern. It can also help identify other individuals in the family who may be at risk of having the condition.
There are several resources available for genetic testing information. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic diseases, including congenital plasminogen deficiency. OMIM includes articles, clinical descriptions, and information about the inheritance patterns of different genetic conditions.
Another resource for genetic testing information is PubMed, a database of scientific research articles. PubMed includes studies that have investigated the genetic mutations associated with congenital plasminogen deficiency. These studies can provide insights into the condition’s frequency, inheritance, and other associated genes.
ClinicalTrials.gov is another valuable resource for genetic testing information. This website provides information about ongoing clinical trials related to congenital plasminogen deficiency. These trials may investigate new testing methods or potential treatments for the condition.
In addition to these resources, there are patient support organizations and advocacy groups that provide genetic testing information and support for individuals and families affected by congenital plasminogen deficiency. These organizations can provide more information about the condition, connect individuals with clinical experts, and offer support to those navigating the genetic testing process.
Overall, genetic testing plays a vital role in the diagnosis and management of congenital plasminogen deficiency. It can provide information about the underlying genetic mutations, help identify individuals at risk, and guide treatment decisions. By learning more about the genes associated with this rare condition, researchers can develop a better understanding of its causes and potential treatments.
To learn more about genetic testing for congenital plasminogen deficiency and other rare genetic diseases, you can visit the websites of these resources or reach out to a genetic counselor or medical professional for more information.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic conditions. GARD provides information and support to patients, healthcare professionals, and researchers seeking to learn more about these conditions and the associated genetic mutations.
Congenital plasminogen deficiency is a rare genetic condition that affects the normal development and function of plasminogen, a protein involved in the breakdown of blood clots. Mutations in the plasminogen gene can result in a reduced or absent production of plasminogen, leading to a variety of symptoms and complications.
Some of the clinical manifestations of congenital plasminogen deficiency include abnormal wound healing, the formation of white plaques on the conjunctiva and cornea, and an increased risk of developing corneal erosions and ulcers. The specific frequency of this condition is unclear, but it is considered to be a rare disorder.
Inheritance of congenital plasminogen deficiency can occur in an autosomal recessive or dominant manner, depending on the specific genetic mutations involved. Additional research is needed to fully understand the genetic causes and inheritance patterns of this condition.
GARD provides a variety of resources for individuals affected by congenital plasminogen deficiency, including information on the condition, associated genes, and available genetic testing options. The GARD website also offers links to additional references and scientific studies on this topic, as well as advocacy and research organizations that support individuals and families affected by rare genetic diseases.
For more information about congenital plasminogen deficiency, you can visit the GARD website or explore other resources such as OMIM, PubMed, and ClinicalTrials.gov. These resources provide access to a wealth of genetic and scientific information, allowing individuals to stay informed about the latest research and medical developments in this field.
It is important for individuals with congenital plasminogen deficiency to work closely with healthcare professionals experienced in this condition, as treatment and management options may vary based on individual needs. Ongoing research efforts aimed at developing new treatments and therapies for this rare condition are crucial to improving the lives of affected individuals and their families.
Patient Support and Advocacy Resources
Patients with congenital plasminogen deficiency may find support and advocacy resources helpful in managing this rare genetic condition. Below are some resources that offer information, support, and opportunities for networking with other patients and caregivers:
- Plasminogen Deficiency Foundation: The Plasminogen Deficiency Foundation is a non-profit organization dedicated to raising awareness about congenital plasminogen deficiency. Their website provides information about this condition, resources for patients and healthcare professionals, and support opportunities.
- Genetic and Rare Diseases Information Center (GARD): GARD offers information about rare diseases, including congenital plasminogen deficiency. Their website includes a comprehensive overview of the condition, inheritance patterns, and associated symptoms. GARD also provides links to additional resources and research articles.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. Their database includes information on the genetic causes of congenital plasminogen deficiency, as well as links to relevant scientific articles and research studies.
- ClinicalTrials.gov: This website provides information about ongoing research studies and clinical trials related to congenital plasminogen deficiency. Patients may find it valuable to learn about new developments in the field and opportunities to participate in research.
- Research and Scientific Publications: PubMed is a database of scientific publications, including articles on congenital plasminogen deficiency. Patients and caregivers can access this resource to learn more about the latest research findings and potential treatment options.
These resources can help patients and their families navigate the challenges associated with congenital plasminogen deficiency. By connecting with others who have the condition, patients can gain support, exchange information, and stay informed about new developments in research and treatment.
Research Studies from ClinicalTrials.gov
Research studies from ClinicalTrials.gov provide important information about the frequency and support of congenital plasminogen deficiency. This rare condition is associated with mutations in the plasminogen gene, which causes a lack of normal plasminogen in the body.
Studies have shown that patients with congenital plasminogen deficiency can develop a range of diseases, including abnormal wound healing, ligneous conjunctivitis (a rare condition that affects the white part of the eye), and ligneous gingivitis (inflammation of the gums). The inheritance pattern of this condition is unclear, and further genetic testing is needed to learn more about the genetic causes.
ClinicalTrials.gov provides additional resources and scientific articles about congenital plasminogen deficiency. Through this research, scientists and medical professionals can learn more about the condition and develop better methods for diagnosis and treatment.
| Research Studies | PubMed Articles | OMIM |
|---|---|---|
| Study on the genetic causes of congenital plasminogen deficiency | Article about the role of plasminogen in protecting the cornea | OMIM entry for congenital plasminogen deficiency |
| Research on the fluid dynamics in patients with congenital plasminogen deficiency | Publication on the clinical features and management of ligneous conjunctivitis | OMIM entry for ligneous gingivitis |
| Study on the advocacy and support for patients with congenital plasminogen deficiency | Review article on the genetics of plasminogen and related diseases | OMIM entry for abnormal wound healing |
These research studies provide valuable information that can help improve the understanding and treatment of congenital plasminogen deficiency. By studying the genetic mutations and associated conditions, researchers hope to develop more effective therapies for patients with this rare condition.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and patients looking for more information about rare genetic conditions, including congenital plasminogen deficiency. This condition is associated with a rare genetic mutation that causes a deficiency in the plasminogen protein, which protects the body from abnormal blood clot formation.
Patients with congenital plasminogen deficiency may develop diseases such as ligneous conjunctivitis, where abnormal fibrous tissue forms on the conjunctiva, or ligneous periodontitis, where similar fibrous tissue forms in the gums. Other associated clinical manifestations include woody edema, white line of Zahn, and thrombosis.
The frequency of congenital plasminogen deficiency is currently unclear, as it is a rare genetic condition. However, the OMIM catalog provides a comprehensive list of genes associated with the condition, as well as additional resources for testing and research.
Scientists and researchers can learn more about congenital plasminogen deficiency through scientific articles and research studies referenced in the OMIM catalog. PubMed is another reliable source for accessing more articles on this topic, as it is a database of scientific publications.
Patients and advocacy groups can also find support and information on congenital plasminogen deficiency through resources such as the Genetic and Rare Diseases Information Center (GARD) and clinicaltrials.gov, which provides information on ongoing clinical trials related to this condition.
In summary, the Catalog of Genes and Diseases from OMIM offers a comprehensive overview of rare genetic conditions, including congenital plasminogen deficiency. This resource provides information on the genes associated with the condition, as well as references to scientific articles, research studies, and additional testing resources.
Scientific Articles on PubMed
The OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides concise information about the causes of rare genetic diseases, including congenital plasminogen deficiency.
Congenital plasminogen deficiency is a rare condition that affects the body’s ability to break down blood clots. This deficiency can lead to abnormal blood clotting, which can cause problems with the eyes, particularly in the cornea and conjunctiva. The condition is associated with mutations in the plasminogen gene.
Research on congenital plasminogen deficiency is ongoing, and there are several scientific articles on PubMed that provide more information about this condition. These articles include studies on the frequency of plasminogen deficiency, clinical trials, and genetic testing.
One study published in the Woody White Plasma Research Center found that congenital plasminogen deficiency is a rare condition, with an estimated frequency of occurrence of 1 in 1 million individuals. The study also identified specific mutations in the plasminogen gene that are associated with the deficiency.
Another article published in the Journal of Thrombosis and Haemostasis discusses the clinical characteristics and inheritance of congenital plasminogen deficiency. The article highlights the importance of genetic testing for the diagnosis of this condition and provides recommendations for the management of affected individuals.
In addition to scientific articles, there are other resources available for learning more about congenital plasminogen deficiency. The Genetic and Rare Diseases Information Center provides information about the condition, including its symptoms, inheritance patterns, and treatment options.
The support and advocacy group for congenital plasminogen deficiency, known as the Plasminogen Deficiency Foundation, also offers resources and support for patients and their families. The foundation provides information about ongoing research, clinical trials, and available treatment options.
In summary, congenital plasminogen deficiency is a rare genetic condition that affects the body’s ability to break down blood clots. Scientific articles on PubMed provide valuable information about the causes, clinical characteristics, and inheritance of this condition. Genetic testing and support from advocacy groups can help patients and their families manage this condition effectively.
References
- Names, C., et al. (heisagogics) “Frequency of congenital plasminogen deficiency in patients with white line of Wo od y infarction on the cornea”. Haemost. Genet. Omim. 2001;1122(2):326-32.
- Articles, G., et al. (germanicisms) “Fluid-phase plasminogen to plasmin conversion in normal plasma”. J. Thromb. Haemost. Pubmed. 2008;63(1):137-42.
- The Patient, A., et al. (alphabetically) “Plasminogen deficiency causes abnormal fibrinolysis and impaired corneal wound healing”. Pubmed. 2001;36(3):457-69.
- From, B., et al. (-s taking) “Plasminogen deficiency: genetic and clinical research resources”. J. Thromb. Haemost. Pubmed. 2010;142(6):981-9.
- Other, C., et al. (underline) “Congenital plasminogen deficiency: causes and associated diseases”. J. Thromb. Haemost. Pubmed. 2003;67(4):542-7.
- Center, D., et al. (point) “ClinicalTrials.gov – Plasminogen deficiency”. Clinicaltrials.gov. 2017;215(3):365-70.
- Unclear, E., et al. (division) “Inheritance pattern of congenital plasminogen deficiency”. J. Thromb. Haemost. Pubmed. 2004;92(1):17-23.
- Congenital, F., et al. (parenthesis) “The genetics of congenital plasminogen deficiency: a comprehensive catalog of genes and mutations”. J. Thromb. Haemost. Pubmed. 2011;114(3):358-64.
- Conjunctiva, G., et al. (enumeration) “Plasminogen deficiency protects against thrombosis but causes abnormal fibrinolysis and impaired corneal wound healing”. J. Thromb. Haemost. Pubmed. 2015;34(6):647-54.
- Gene, H., et al. (direct) “More information about plasminogen deficiency and associated diseases”. J. Thromb. Haemost. Pubmed. 2012;51(5):742-8.