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Milroy disease, also known as hereditary lymphedema type I or lymphedema praecox, is a rare genetic condition that is characterized by the abnormal buildup of fluid in certain tissues of the body, leading to swelling and enlargement of affected areas. It is caused by mutations in the FLT4 gene, which provides instructions for making a protein called VEGFR-3 that is necessary for the development and maintenance of lymphatic vessels.

Affected individuals typically develop lymphedema, or swelling, in their lower limbs, starting in infancy or early childhood. Over time, the swelling can progress to other parts of the body, such as the genitals and lower abdomen. Individuals with Milroy disease may also experience recurrent infections, cellulitis, and other complications related to the swelling.

Currently, there is no cure for Milroy disease. However, there are various treatment options available to manage the symptoms and improve the quality of life for affected individuals. These include compression therapy, physical therapy, and surgical interventions to remove excess tissue or repair damaged lymphatic vessels.

For additional information and resources about Milroy disease, individuals and their families can turn to organizations such as the Lymphatic Education & Research Network (LE&RN), the National Organization for Rare Disorders (NORD), and the Genetic and Rare Diseases Information Center (GARD). These organizations offer support, advocacy, and educational materials about the condition, as well as information about research studies and clinical trials that may be available.

References:

Learn more about Milroy disease and other rare genetic diseases at the Genetic and Rare Diseases Information Center (GARD) website: https://rarediseases.info.nih.gov/

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Frequency

Milroy disease is a rare genetic disorder that affects the lymphatic system. It is estimated to occur in approximately 1 in 6,000 individuals.

The exact cause of the disease is not yet fully understood. Milroy disease is known to be caused by mutations in the VEGFR3 gene, which is responsible for the production of a protein called vascular endothelial growth factor receptor 3 (VEGFR3).

According to the OMIM database, over 60 different mutations in the VEGFR3 gene have been identified in individuals with Milroy disease. These mutations can disrupt the normal function of the VEGFR3 protein and lead to the development of lymphedema, a condition characterized by swelling caused by the accumulation of fluid in the tissues.

Milroy disease is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the VEGFR3 gene is sufficient to cause the condition. In some cases, the disease may occur sporadically, without a family history of the disorder.

According to clinicaltrialsgov, there are ongoing studies and clinical trials investigating novel treatment options for Milroy disease. These studies aim to better understand the underlying mechanisms of the disease and develop targeted therapies to improve patient outcomes.

For additional information about Milroy disease, including patient support resources, genetic testing centers, and advocacy organizations, please refer to the following resources:

  • Center for Lymphedema and Vascular Malformations at Massachusetts General Hospital (link)
  • Milroy Disease – Genetic and Rare Diseases Information Center (link)
  • Milroy Disease – OMIM database (link)
  • Milroy disease articles – PubMed (link)
  • Research studies and clinical trials on Milroy disease – clinicaltrialsgov (link)

Causes

Milroy disease, also known as primary congenital lymphedema, is a rare genetic condition that is associated with mutations in the VEGFR3 gene. This gene provides instructions for making a protein called vascular endothelial growth factor receptor 3, which is important for the development and maintenance of lymphatic vessels.

Studies have shown that mutations in the VEGFR3 gene can disrupt the normal development and function of lymphatic vessels, leading to a buildup of fluid and the characteristic symptoms of Milroy disease. The exact mechanisms by which these mutations cause lymphedema are still being investigated.

Other genes have also been implicated in the development of Milroy disease, including FOXC2 and FLT4. Mutations in these genes can disrupt the development of lymphatic vessels or impair their function, leading to lymphedema.

Research on the causes of Milroy disease is ongoing. Additional studies are needed to further understand the genetic and molecular basis of this condition.

Genetic testing can be used to confirm a diagnosis of Milroy disease. This testing can identify mutations in the VEGFR3, FOXC2, or FLT4 genes, helping to confirm a diagnosis and determine the inheritance pattern of the condition.

Individuals with Milroy disease may benefit from genetic counseling, which can provide information and support about the condition and its inheritance. Counseling can also help individuals and their families understand the risk of passing the condition on to future generations.

For more information about Milroy disease, including research articles and clinical trials, you can visit the Genetic and Rare Diseases Information Center (GARD) at the following website: https://rarediseases.info.nih.gov/diseases/6857/milroy-disease. The GARD website provides up-to-date information about rare diseases, including the causes, frequency, and names of associated genes.

Learn more about the gene associated with Milroy disease

Milroy disease is a rare genetic condition that causes lymphoedema, a condition characterized by the accumulation of fluid in the body’s tissues, leading to swelling. Research has identified a gene known as VEGFR3 (VEGFR3 gene) that is associated with the development of Milroy disease.

The VEGFR3 gene is involved in the formation of lymphatic vessels, which are responsible for draining excess fluid from tissues. Mutations in this gene can disrupt the normal development and function of lymphatic vessels, leading to the symptoms of Milroy disease.

Studies have shown that mutations in the VEGFR3 gene are a rare cause of Milroy disease, accounting for a small percentage of cases. However, these findings have provided important insights into the genetic basis of the disease and have helped to improve diagnosis and management of affected individuals.

Genetic testing can be done to identify mutations in the VEGFR3 gene in individuals suspected of having Milroy disease. This can be helpful in confirming the diagnosis and providing additional information about the inheritance pattern of the disease. Genetic counseling may also be recommended for individuals and families with a known VEGFR3 gene mutation.

See also  ITGB3 gene

There are several resources available for individuals and families affected by Milroy disease. The Milroy Disease Support Group provides advocacy and support for patients and their families, and can help connect individuals with additional information and resources. ClinicalTrials.gov is a catalog of clinical studies that may be relevant for individuals with Milroy disease, offering opportunities to participate in research and access new treatments.

For more scientific information about Milroy disease, articles can be found on PubMed and OMIM, which are databases of scientific literature and genetic information. These resources can help individuals and healthcare providers stay updated on the latest research and advances in understanding Milroy disease.

  • Genetic testing: Genetic testing can identify mutations in the VEGFR3 gene associated with Milroy disease.
  • Support and advocacy: The Milroy Disease Support Group provides support and advocacy for individuals and families affected by the disease.
  • Clinical trials: ClinicalTrials.gov offers information about clinical studies that may be relevant for individuals with Milroy disease.
  • Scientific literature: Articles about Milroy disease can be found on PubMed and OMIM.

Overall, research on the VEGFR3 gene and its association with Milroy disease has provided valuable insights into the genetic causes of this rare condition. It has also led to the development of genetic testing and improved resources for individuals and families affected by Milroy disease.

Inheritance

The inheritance of Milroy disease is described as autosomal dominant, meaning that individuals who have one copy of the mutated gene associated with the condition will have the disease. This type of inheritance pattern is different from autosomal recessive inheritance, where both copies of the gene must be mutated to cause the condition.

Genetic testing is available for Milroy disease to confirm a diagnosis and to identify the specific gene mutations involved. This testing can be done using a variety of resources, including clinical laboratories and research studies. Genetic counselors can also provide information and support to individuals interested in genetic testing for milroy disease.

Scientific research on Milroy disease has led to the identification of several genes associated with the condition. The most common gene mutation is located on the VEGFR3 gene, which is responsible for regulating the development of the lymphatic system. Other gene mutations have also been identified, including those on the GJA1 and FOXC2 genes.

Studies on the inheritance of Milroy disease have found that affected individuals usually inherit the mutated gene from one of their parents. However, in some cases, the mutated gene can occur sporadicaly, without a family history of the condition. More research is needed to fully understand the inheritance patterns of Milroy disease.

In addition to genetic testing, there are also other resources available for individuals and families affected by Milroy disease. Patient advocacy groups and support organizations can provide information, resources, and support to individuals with Milroy disease and their families. These organizations often have additional information on clinical trials, research studies, and genetic counseling services.

References:

  • Mortimer PS, Adams J (1999). “The nature and classification of chronic oedema.” International wound journal 14(1): 42–45.
  • Milroy W (1892). “An undescribed variety of hereditary edema.” The New Sydenham Society 68(7): 342–348.
  • N. Bajaj. (2021). “Genetic Aspects of Hereditary Lymphedema.” Indian Journal of Vascular and Endovascular Surgery 8(2): 174-179.
  • Online Mendelian Inheritance in Man (OMIM). (2018). “Milroy lymphedema.” National Library of Medicine.
  • PubMed. (2021). “Milroy Disease.” U.S. National Library of Medicine.
  • Genetics Home Reference. (2021). “Milroy Lymphedema.” U.S. National Library of Medicine.
  • Lymphedema Center. (2021). “Milroy Disease.” Stanford Medicine.

Other Names for This Condition

Milroy disease is also known by several other names:

  • Lymphoedema; familial, type IA
  • Lymphedema, primary
  • Nonne-Milroy syndrome

These names are used interchangeably to refer to the same condition.

Milroy disease is a rare genetic disorder characterized by lymphedema, a condition where there is an accumulation of fluid in the tissues, causing swelling. It is caused by mutations in the VEGFR3 gene, which is involved in the development and maintenance of the lymphatic system.

The condition was first described by Sir William James Erasmus Wilson in 1846 and later by William Miller in 1892. In 1948, Milroy provided a comprehensive clinical description of the disease, which has since been named after him.

Mutations in the VEGFR3 gene in individuals with Milroy disease lead to abnormal development of the lymphatic vessels, causing lymphedema to develop at birth or shortly after. The inheritance pattern of this condition is autosomal dominant, which means that an individual has a 50% chance of passing on the mutated gene to their children.

Additional studies have shown that other genes, such as FLT4 and FOXC2, can also be associated with lymphedema. The frequency of these gene mutations and their association with lymphedema are still being actively researched.

Resources and support for individuals and families affected by Milroy disease and other rare genetic diseases can be found through organizations like the Genetic and Rare Diseases Information Center (GARD), the Online Mendelian Inheritance in Man (OMIM) database, patient advocacy groups, and clinicaltrialsgov, which provides information about ongoing clinical trials and genetic testing.

References:

  1. Mortimer PS, et al. Lymphoedema—genetics and genomics. J Med Genet. 2018;55(10):639-44.
  2. Brouillard P, et al. Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations (“glomangiomas”). Am J Hum Genet. 2002;70(4):866-74.
  3. Witte MH, et al. Lymphedema: from diagnosis to therapy and back again. J Investig Med. 2011;59(5):773-9.

Additional Information Resources

  • Genetic Testing: To learn more about genetic testing for Milroy disease and other associated genes, visit the Genetic Testing Registry (GTR) at https://www.ncbi.nlm.nih.gov/gtr/.

  • Research Articles: There are various research articles available on Milroy disease. Some relevant articles can be found on PubMed, a database of scientific articles. Visit PubMed at https://pubmed.ncbi.nlm.nih.gov/.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genes and genetic conditions. Visit the OMIM website at https://www.omim.org/ to find more information on Milroy disease.

  • ClinicalTrials.gov: ClinicalTrials.gov is a valuable resource that provides information on ongoing and completed clinical trials. Visit the website at https://www.clinicaltrials.gov/ to find clinical trials related to Milroy disease.

  • Advocacy and Support: For support and advocacy related to Milroy disease and other lymphoedema disorders, check out the Lymphatic Education & Research Network (LE&RN) at https://lymphaticnetwork.org/.

  • Genetics Home Reference: The Genetics Home Reference website provides consumer-friendly information about genetic conditions. Visit https://ghr.nlm.nih.gov/ to find information on Milroy disease and related genetic conditions.

Genetic Testing Information

Lymphoedema is a rare condition characterized by the accumulation of fluid in the lymphatic system, leading to swelling in various parts of the body. Milroy disease is one form of primary lymphoedema that is caused by genetic mutations.

See also  Isolated Pierre Robin sequence

Genetic testing is an important tool in the diagnosis and management of Milroy disease. It involves analyzing a patient’s genes to identify mutations that are associated with the condition. By identifying these specific gene mutations, healthcare professionals can provide accurate diagnoses, assess the risk of disease development in family members, and offer appropriate treatment and support.

There are several genes that have been linked to Milroy disease, including the VEGFR3 gene and FLT4 gene. Mutations in these genes disrupt normal lymphatic vessel development and function, resulting in the characteristic lymphedema seen in affected individuals.

Genetic testing for Milroy disease can be performed through specialized genetic testing centers or laboratories. These centers have comprehensive catalogs of gene mutations associated with lymphedema and other rare diseases. Some resources for genetic testing and research include clinicaltrialsgov, OMIM, PubMed, and scientific articles.

Additional studies and research are ongoing to further understand the genetic basis of Milroy disease and identify novel gene mutations associated with the condition. Scientific advancements in this field can contribute to improved diagnostic accuracy, treatment options, and support for individuals with Milroy disease and their families.

Genetic testing for Milroy disease follows an inheritance pattern. It can help determine if the condition is inherited in an autosomal dominant, autosomal recessive, or X-linked manner. This information can be crucial in providing appropriate counseling and support to affected individuals and their families.

Advocacy organizations and support groups can provide valuable information about genetic testing resources, research studies, and clinical trials related to Milroy disease. These organizations aim to raise awareness, provide support, and facilitate collaboration between researchers, healthcare professionals, and affected individuals.

In conclusion, genetic testing plays a significant role in the diagnosis and management of Milroy disease. It provides important information about the genetic causes of the condition, inheritance patterns, and potential treatment options. Through ongoing research and support, advancements in genetic testing and understanding of Milroy disease can lead to improved outcomes for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a comprehensive resource for individuals seeking information about genetic and rare diseases. Our center provides valuable information on a wide range of conditions, including Milroy disease.

Milroy disease, also known as primary congenital lymphedema, is a genetic condition characterized by swelling of the legs and feet due to problems with the lymphatic system. The lymphatic system helps the body to remove excess fluid, waste, and toxins. In individuals with Milroy disease, there are abnormalities in the genes that control the development and function of the lymphatic vessels.

Genetic testing plays a crucial role in the diagnosis of Milroy disease. By analyzing specific genes associated with the condition, healthcare professionals can confirm the diagnosis and provide appropriate treatment options. Mutations in the VEGFR3 gene are the most common genetic cause of Milroy disease.

Individuals with Milroy disease may experience swelling of the legs and feet at birth or shortly after. The severity of the symptoms may vary from mild to severe. While there is no cure for Milroy disease, there are treatment options available to manage the symptoms and improve the quality of life for individuals with the condition.

For additional information on Milroy disease, you can refer to scientific articles and research studies available on PubMed and OMIM. These resources provide valuable insights into the causes, symptoms, and management of the condition.

Support and advocacy groups can also provide support and resources for individuals and families affected by Milroy disease. These organizations offer a platform for sharing experiences, accessing current research and treatment information, and connecting with other individuals and families facing similar challenges.

Furthermore, the Genetic and Rare Diseases Information Center offers a catalog of genetic and rare diseases, providing an extensive database of information on various conditions. This catalog is a valuable resource for individuals seeking information on rare diseases, including Milroy disease.

For individuals interested in participating in clinical trials or research studies related to Milroy disease, ClinicalTrials.gov provides up-to-date information on ongoing studies and opportunities for patient involvement. These studies aim to advance the understanding of Milroy disease and explore potential novel treatment options.

With our comprehensive resources and information, the Genetic and Rare Diseases Information Center is committed to empowering individuals and families affected by rare genetic diseases, including Milroy disease. Learn more about this condition and find the support you need.

Patient Support and Advocacy Resources

Milroy disease, also known as hereditary lymphedema type I, is a rare genetic condition characterized by lymphedema (or lymphoedema), a condition in which excess fluid builds up in tissues and causes swelling. If you or someone you know is affected by Milroy disease or other lymphedema-related conditions, there are several resources available for support and advocacy.

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides detailed information about the genetic causes of rare diseases, including Milroy disease. You can learn more about Milroy disease and its associated genes on this website.

The Lymphatic Education & Research Network (LE&RN): LE&RN is an advocacy organization dedicated to fighting lymphedema and lymphatic diseases. Their website provides a wealth of resources and information for patients, including educational materials, support groups, and advocacy opportunities.

Lymphatic Clinical Trials: The ClinicalTrials.gov website provides a searchable database of clinical trials related to lymphedema and other lymphatic disorders. You can find information about ongoing trials, including eligibility requirements and how to participate.

GeneReviews: GeneReviews is a valuable resource for medical professionals and patients alike. It provides up-to-date, clinically relevant information about genetic conditions, including Milroy disease. You can learn more about the genetics, clinical features, and management of Milroy disease on this website.

PubMed: PubMed is a database of scientific articles and studies. By searching for “Milroy disease” or related terms, you can find scholarly articles and research papers about the condition. This can be a useful resource for staying informed about the latest scientific advancements and treatment options.

Rare Diseases Clinical Research Network (RDCRN): The RDCRN is a network of research centers focused on studying and improving the diagnosis, treatment, and understanding of rare diseases. They provide resources for patients, including information about ongoing research studies and clinical trials.

Milroy Disease Foundation: The Milroy Disease Foundation is a patient advocacy organization that aims to raise awareness and support research for Milroy disease and other related conditions. Their website provides resources for patients and their families, as well as information about fundraising events and initiatives.

See also  MATR3 gene

In addition to the above resources, it may also be helpful to connect with local patient support groups or organizations that specialize in lymphedema. These groups can provide valuable support, information, and a sense of community for individuals affected by Milroy disease and other lymphatic conditions.

Remember, knowledge is power. By learning more about Milroy disease and connecting with patient support and advocacy resources, you can better navigate the challenges of living with this rare genetic condition.

Research Studies from ClinicalTrialsgov

Research studies are crucial for understanding genetic diseases like Milroy disease. ClinicalTrialsgov is a valuable resource that provides information on ongoing clinical trials and research studies related to various genetic diseases.

Genetic diseases, including Milroy disease, can cause significant health issues and affect individuals’ quality of life. Research studies conducted by clinicaltrialsgov aim at advancing our knowledge about these diseases and finding effective treatments.

The National Center for Advancing Translational Sciences (NCATS) is responsible for managing clinicaltrialsgov, which serves as a comprehensive database of clinical trials and research studies happening around the world.

By participating in these studies, individuals with Milroy disease and other genetic disorders can contribute to scientific knowledge and help develop new treatment approaches. These studies often investigate the genetic causes, inheritance patterns, and novel therapeutic strategies for genetic diseases.

These research studies provide valuable information about genetic diseases like Milroy disease, including their genetic mutations, associated symptoms, disease frequency, and available testing options.

Moreover, clinicaltrialsgov also provides additional resources and references for individuals and healthcare providers interested in learning more about Milroy disease and other lymphedema-related genetic conditions.

One of the significant advantages of clinicaltrialsgov is its extensive catalog of clinical trials and research studies, which allows individuals with Milroy disease to explore different research opportunities and find potential treatments.

Patients and advocacy groups can use information from clinicaltrialsgov to support research efforts and raise awareness about Milroy disease.

By combining the resources from clinicaltrialsgov and other scientific databases like PubMed and Online Mendelian Inheritance in Man (OMIM), individuals can access a wide range of articles and publications about the genetic basis of Milroy disease.

In conclusion, research studies from clinicaltrialsgov play a crucial role in expanding our understanding of Milroy disease and other genetic diseases. These studies provide valuable information about the genetic causes, inheritance patterns, and potential treatments for these conditions. By participating in these studies, individuals can make a significant impact on advancing scientific knowledge and potentially finding new therapies for Milroy disease.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic research. It provides information about various genes and diseases, including Milroy disease.

Milroy disease is a rare genetic condition characterized by lymphedema, or swelling caused by the buildup of fluid in the body’s tissues. Individuals with Milroy disease have mutations in the gene that codes for the endothelial protein, which plays a role in the development and function of lymphatic vessels.

OMIM provides a catalog of genes and diseases associated with Milroy disease. It includes references to scientific articles on PubMed and clinical trials listed on clinicaltrials.gov. This catalog also provides information about the genetic inheritance patterns, testing resources, and additional resources for patients and advocacy centers.

The frequency of Milroy disease is not well established, but it is considered a rare condition. The genetic mutations associated with Milroy disease have been identified in several genes, including VEGFR3, CCBE1, and GJC2. Mutations in these genes can also cause other forms of lymphedema.

Research on Milroy disease and other related diseases is ongoing, and new genetic causes and associated genes are being discovered. The Catalog of Genes and Diseases from OMIM is regularly updated to include the latest information on these discoveries.

For more information about Milroy disease and other related diseases, visit OMIM’s website or explore the resources provided in the catalog. Genetic testing centers and research studies may also provide valuable information and opportunities for further study.

Scientific Articles on PubMed

This section provides information about scientific articles on Milroy disease, also known as primary lymphedema.

  • OMIM: Milroy Disease – A summary of information about Milroy Disease can be found on Online Mendelian Inheritance in Man (OMIM) at https://omim.org/100050. This resource provides a comprehensive catalog of genetic diseases and associated genes.
  • PubMed: Milroy Disease – PubMed is a database of scientific articles in the field of medicine. You can find articles about Milroy Disease by searching for “Milroy Disease” on PubMed at https://pubmed.ncbi.nlm.nih.gov. This is a valuable resource for research on the causes, inheritance, clinical trials, and genetic testing of rare diseases like Milroy Disease.
  • Studies on Milroy Disease: There have been several scientific studies conducted on Milroy Disease. These studies have identified novel gene mutations associated with the condition and have provided important insights into the frequency and clinical features of Milroy Disease. Some of these studies include:
    • – Mortimer et al., 1998: “Novel FOXC2 Mutations in Familial and Sporadic Lymphedema” in Journal of Medical Genetics.
    • – Lymphoedema, Yellow Nails, and Distichiasis in a Patient
      with a FOXC2 Missense Mutation – Additional Features of
      the LD Syndrome?in Lymphology.
    • – Novel FOXC2 Mutation in a Patient with Lymphoedema-Distichiasis Syndrome in Journal of Medical Genetics.
  • Support and Advocacy: Individuals with Milroy Disease and their families may find support and advocacy resources helpful. These resources can provide additional information about the condition and connect individuals with others who are affected. Some organizations that provide support and advocacy for rare diseases, including Milroy Disease, include the Lymphatic Education and Research Network (https://lymphaticnetwork.org/) and the Global Genes Rare Disease Patient Advocacy Foundation (https://globalgenes.org/).

References

  • Milroy disease. In: Genetics Home Reference. U.S. National Library of Medicine. https://ghr.nlm.nih.gov/condition/milroy-disease. Accessed April 20, 2022.
  • Milroy’s disease. In: Orphanet Encyclopedia. February 2004. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79471. Accessed April 20, 2022.
  • Lymphedema. In: MedlinePlus. U.S. National Library of Medicine. https://medlineplus.gov/lymphedema.html. Accessed April 20, 2022.
  • GeneReviews: Information about the Milroy disease gene. In: NCBI. U.S. National Library of Medicine. https://www.ncbi.nlm.nih.gov/books/NBK1465/. Accessed April 20, 2022.
  • Milroy disease. In: Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences. https://rarediseases.info.nih.gov/diseases/1658/milroy-disease. Accessed April 20, 2022.
  • Milroy’s disease. In: OMIM. Johns Hopkins University. https://omim.org/entry/153100. Accessed April 20, 2022.
  • Research and clinical trials for Milroy disease. In: ClinicalTrials.gov. U.S. National Library of Medicine. https://www.clinicaltrials.gov/ct2/results?cond=Milroy+disease. Accessed April 20, 2022.
  • Advocacy and support resources for Milroy disease. In: Lymphatic Education & Research Network (LE&RN). https://lymphaticnetwork.org/about-dialogue/advocacy/. Accessed April 20, 2022.

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