Familial dysautonomia, also known as Riley-Day syndrome, is a rare autosomal recessive genetic condition that affects the autonomic nervous system. It is associated with a variety of symptoms and can cause significant challenges for affected individuals and their families.

The exact causes of familial dysautonomia are not fully understood, but ongoing research is helping to shed light on the underlying genetic factors and mechanisms involved. This condition is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Genetic testing is available for familial dysautonomia, and can be a valuable tool in diagnosing and managing the condition. The Online Mendelian Inheritance in Man (OMIM) database provides additional resources and information about the associated genes, as well as links to relevant articles and studies.

People with familial dysautonomia experience a wide range of symptoms, including problems with balance and coordination, episodes of autonomic dysfunction, difficulty swallowing, and more. This condition can also lead to increased susceptibility to infections and problems with blood pressure regulation.

Advocacy and support organizations, such as the Dysautonomia Research and Clinical Trials (DRC) organization, provide valuable resources and information for patients and their families. ClinicalTrials.gov is another useful resource that provides information on ongoing studies and clinical trials related to familial dysautonomia.

In conclusion, familial dysautonomia is a rare genetic condition that affects the autonomic nervous system. Ongoing research and genetic testing have provided valuable insights into the underlying causes and mechanisms of this condition. Advocacy and support organizations help to provide resources and support for affected individuals and their families.

Almost two-thirds of that $3.3 trillion cost – 64% – is paid for by American tax dollars, and that amount is growing. A study by the American Journal of Public Health predicts that taxpayers will shoulder 67.3% of the burden of healthcare costs by the year 2024, Physicians for a National Health Program

Frequency

Familial dysautonomia (FD) is a rare autosomal recessive condition with a low frequency in the general population. This genetic disorder is also known as hereditary sensory and autonomic neuropathy type III.

The frequency of FD is estimated to be 1 in 31,000 to 1 in 47,000 births in the Ashkenazi Jewish population, where the condition is most commonly found. In this population, both parents must carry a copy of the altered IKBKAP gene for their child to be affected by FD.

Other names associated with FD include Riley-Day syndrome, which was once thought to be a separate disorder but is now known to be the same as FD.

FD causes problems with the autonomic nervous system, which is responsible for regulating involuntary body functions such as blood pressure, heart rate, temperature, digestion, and balance. It is characterized by a wide range of symptoms including diminished pain sensitivity, gastrointestinal issues, cardiovascular problems, breathing difficulties, and irregular body temperature.

The diagnosis of FD can be confirmed through genetic testing, specifically testing for mutations in the IKBKAP gene. This gene provides instructions for making a protein called IKAP, which is involved in the development and maintenance of nerve cells. Mutations in the IKBKAP gene can lead to the production of a nonfunctional IKAP protein, causing the symptoms of FD.

There is currently no cure for FD, and treatment focuses on managing the symptoms and improving the patient’s quality of life. This may involve a multidisciplinary approach with various healthcare professionals, including neurologists, gastrointestinal specialists, cardiologists, and therapists.

Research on FD is ongoing, with scientific studies and clinical trials investigating the underlying causes of the condition, potential treatment options, and ways to improve the quality of life for patients.

For more information about FD, additional resources, and support, the Dysautonomia Information Network (DINET) and the Dysautonomia Foundation provide advocacy, educational materials, and patient resources. The National Institutes of Health (NIH) and the National Library of Medicine’s PubMed database also have articles and studies on FD and related diseases.

References:

• Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001;68(3):598-605.
• “Familial dysautonomia.” Genetics Home Reference, U.S. National Library of Medicine, 10 June 2019, ghr.nlm.nih.gov/condition/familial-dysautonomia. Accessed 2 July 2021.
• ClinicalTrials.gov. Search results for “familial dysautonomia.” clinicaltrials.gov/ct2/results?cond=familial+dysautonomia. Accessed 2 July 2021.

Causes

Familial dysautonomia (FD) is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by mutations in the IKBKAP gene, also known as the IKAP gene. This gene provides instructions for producing a protein called IκB kinase complex-associated protein (IKAP). The IKAP protein is involved in the development and function of the nervous system. Mutations in the IKBKAP gene affect the production or function of the IKAP protein, leading to the signs and symptoms of FD.

The IKBKAP gene is located on chromosome 9. Scientists have identified various mutations in this gene that are associated with familial dysautonomia. Although the specific mutations can vary among affected individuals, most cases of FD are caused by a mutation that deletes a small piece of DNA in the gene. This mutation is designated as the common mutation, and it is present in about 99% of affected individuals of Ashkenazi Jewish descent.

The inheritance pattern of familial dysautonomia is autosomal recessive, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If both parents carry one copy of the mutated gene, there is a 25% chance with each pregnancy for them to have an affected child.

Familial dysautonomia is often associated with problems in the development and function of the autonomic nervous system. This part of the nervous system controls involuntary body functions, such as heart rate, blood pressure, body temperature, digestion, and the production of tears and saliva. Dysfunction of the autonomic nervous system in FD leads to a wide range of symptoms, including problems with blood pressure regulation, absence of tears, difficulty swallowing, lack of temperature sensation, gastrointestinal issues, and abnormalities in the growth and development of sensory and motor neurons.

References to scientific articles and other resources to learn more:

• Online Mendelian Inheritance in Man (OMIM) database – a comprehensive catalog of human genes and genetic disorders: OMIM – Familial Dysautonomia
• PubMed – a database of scientific articles: PubMed – Familial Dysautonomia
• ClinicalTrials.gov – a registry of clinical trials: ClinicalTrials.gov

These resources provide additional information about research studies, clinical trials, genetic testing, and support for patients and families affected by familial dysautonomia.

Genes Associated with Familial Dysautonomia

These are some of the genes that have been associated with familial dysautonomia. Each gene is inherited in a different pattern, and further research is needed to fully understand their roles and interactions in the development and progression of the condition.

Learn more about the gene associated with Familial dysautonomia

Familial dysautonomia is a rare hereditary condition that affects the autonomic nervous system. It is caused by mutations in the IKBKAP gene, which is located on chromosome 9.

The IKBKAP gene provides instructions for making a protein called IκB kinase complex-associated protein (IKAP). This protein is involved in the development and functioning of nerve cells, particularly those in the autonomic nervous system.

Genetic testing can be done to identify mutations in the IKBKAP gene, which can confirm a diagnosis of familial dysautonomia. Testing can also be done to determine carrier status for individuals who may be at risk of passing on the condition to their children.

Frequency and inheritance

Familial dysautonomia is inherited in an autosomal recessive pattern, which means that both copies of the IKBKAP gene in each cell must have mutations for the condition to be present. If both parents are carriers of a single mutated IKBKAP gene, each child has a 25% chance of having familial dysautonomia.

Familial dysautonomia is more commonly found in individuals of Ashkenazi Jewish descent, with a carrier frequency of approximately 1 in 31. However, the condition can also occur in individuals from other populations.

Symptoms and clinical manifestations

• Episodes of unexplained high body temperature
• Episodes of low blood pressure
• Problems with balance and coordination
• Recurrent infections
• Difficulty swallowing
• Abnormalities in sensory perception

Familial dysautonomia can also affect other parts of the body, including the eyes, lungs, and reproductive system. Individuals with familial dysautonomia may experience a reduced lifespan and have an increased risk of developing certain diseases.

Research and advocacy

Scientific research is ongoing to better understand the underlying causes and mechanisms of familial dysautonomia. Researchers are investigating potential therapies and treatments to improve the quality of life for affected individuals.

Various resources and organizations provide support and information for individuals and families affected by familial dysautonomia. These include advocacy groups, clinical trial databases (such as clinicaltrials.gov), and genetic catalogs (such as OMIM).

Additional resources and references

• OMIM: Online Mendelian Inheritance in Man – a comprehensive database of genetic disorders and genes
• PubMed: a database of scientific articles
• ClinicalTrials.gov: a registry of clinical studies

For additional information about familial dysautonomia, its causes, symptoms, and available treatments, it is recommended to consult these resources and speak with healthcare professionals specializing in this rare condition.

Inheritance

Familial dysautonomia (FD) is a rare hereditary genetic disorder that affects the autonomic nervous system of the body. It is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for the condition to be passed on to their child.

FD is caused by mutations in the IKBKAP gene, also known as the ELP1 gene. This gene provides instructions for making a protein that is involved in the development and function of nerve cells, particularly those that control involuntary actions such as heart rate, blood pressure, and digestion. Mutations in the IKBKAP gene result in a decrease in the production of this protein, leading to the characteristic symptoms of FD.

The frequency of FD varies among different populations. It is more common in individuals of Ashkenazi Jewish descent, with a carrier frequency of about 1 in 30 individuals. In other populations, the carrier frequency is much lower.

Testing for FD can be done through genetic testing, which analyzes the IKBKAP gene for mutations. This can be helpful for individuals who have a family history of FD or for those who are planning to have children and want to determine their carrier status.

Individuals with FD may experience a wide range of symptoms, including problems with regulating body temperature, blood pressure, and heart rate, difficulties with swallowing and digestion, as well as episodes of vomiting and infections. Each patient may present with a different combination and severity of symptoms.

There are resources and support available for individuals and families affected by FD. The Dysautonomia Foundation provides information, advocacy, and resources for individuals with FD and other related diseases. They also support research studies and clinical trials to further understand and find treatments for FD. Additional information can be found on the OMIM database, PubMed, and ClinicalTrials.gov.

References:

• OMIM (Online Mendelian Inheritance in Man): https://www.omim.org
• PubMed: https://pubmed.ncbi.nlm.nih.gov
• ClinicalTrials.gov: https://www.clinicaltrialsgov

Other Names for This Condition

Familial dysautonomia is also known by several other names:

• Hereditary sensory and autonomic neuropathy type III (HSAN3)
• Riley-Day syndrome
• Dysautonomia, familial
• New York Neurological Institute phenotype
• Slender axons and dysautonomia
• HSANI
• R-D

These names are used to describe the same rare condition, which is characterized by problems with the autonomic nervous system and hereditary sensory and autonomic neuropathy. Familial dysautonomia is an autosomal recessive genetic disorder, meaning that it is inherited when both parents carry a copy of the disease-causing gene.

Episodes of dysautonomia can include difficulties in regulating body temperature, blood pressure, and heart rate, as well as gastrointestinal problems. Infections, particularly respiratory infections, can trigger dysautonomic crises. Familial dysautonomia can be diagnosed through genetic testing for the IKBKAP gene, which is associated with this condition.

For more information on familial dysautonomia, you can refer to the following resources:

• The OMIM catalog, which provides scientific and clinical information on rare diseases (https://omim.org/)
• PubMed, which offers articles and research studies on familial dysautonomia (https://pubmed.ncbi.nlm.nih.gov/)
• ClinicalTrials.gov, which lists ongoing clinical trials and studies related to familial dysautonomia (https://clinicaltrials.gov/)
• The Dysautonomia Center, a patient support and advocacy center for individuals with familial dysautonomia (https://www.familialdysautonomia.org/)
• The Genetics Home Reference, a free resource for genetic information on familial dysautonomia (https://ghr.nlm.nih.gov/condition/familial-dysautonomia)

Additional information on the associated genes, inheritance pattern, symptoms, and frequency of familial dysautonomia can be found in the referenced scientific articles and clinical resources.

Additional Information Resources

Here are some additional resources for more information about Familial Dysautonomia:

• Names: Familial Dysautonomia, FD, Riley-Day syndrome
• Scientific names: Hereditary sensory and autonomic neuropathy type III (HSAN III)
• Associated genes: IKBKAP gene
• Autosomal: Autosomal recessive inheritance
• Patient support and advocacy: Dysautonomia Advocacy Foundation, Inc.

For more clinical information on Familial Dysautonomia, you can refer to the following resources:

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a database that provides comprehensive information on genetic disorders. The entry for Familial Dysautonomia can be found at OMIM.org.
• PubMed: PubMed is a database of scientific research articles. You can search for articles on Familial Dysautonomia by typing the keywords into the search bar at PubMed.gov.
• clinicaltrials.gov: This website provides information on clinical trials conducted for various diseases, including Familial Dysautonomia. You can search for ongoing and completed clinical trials related to Familial Dysautonomia at clinicaltrials.gov.

To learn more about the genetic testing for Familial Dysautonomia, you can visit the following resources:

• Center for Jewish Genetics: The Center for Jewish Genetics provides information and resources about genetic disorders that are more common in the Jewish population, including Familial Dysautonomia. You can visit their website at jewishgenetics.org.
• Slaugenhaupt Lab: The Slaugenhaupt Lab conducts research on the genetics of Familial Dysautonomia. You can find more information about their studies and the condition on their website at slaugenhauptlab.org.

These resources offer free access to additional information on Familial Dysautonomia, including its causes, clinical features, genetic inheritance, and more. They can be valuable sources of support and knowledge for patients, families, and healthcare professionals.

Genetic Testing Information

Genetic testing plays a vital role in the diagnosis and management of Familial Dysautonomia (FD). It helps identify the specific genetic mutation responsible for the condition. This information allows for a better understanding of the disease’s inheritance pattern, prognosis, and potential treatment options.

Genetic Testing Types:

• Targeted gene testing
• Genomic sequencing
• Carrier testing
• Prenatal testing

Scientific research and clinical studies have provided valuable insights into the genetics of Familial Dysautonomia. The primary gene associated with FD is the IKBKAP gene. Mutations in this gene cause the characteristic symptoms and physiological abnormalities observed in patients with FD.

Inheritance:

Familial Dysautonomia follows an autosomal recessive inheritance pattern. This means that a child must inherit two copies of the mutated IKBKAP gene, one from each parent, to develop the condition. Individuals with only one copy of the mutation are considered carriers and do not typically show symptoms of FD.

Genetic Testing Resources:

• PubMed – A valuable online resource for scientific articles and studies about Familial Dysautonomia and other rare diseases.
• ClinicalTrials.gov – Provides additional information on ongoing research studies and clinical trials related to FD.
• Genetests.org – A comprehensive catalog of genetic testing laboratories that offer tests for FD and other inherited conditions.

Genetic Testing and Clinical Management:

Genetic testing for Familial Dysautonomia is recommended for individuals exhibiting symptoms or those with a family history of the condition. It helps confirm the diagnosis and provides valuable information for developing a personalized treatment plan.

Knowing the specific genetic mutation allows for targeted management of symptoms and potential interventions. Genetic counseling is also an essential component of the testing process, providing emotional support and guidance for individuals and families affected by FD.

Understanding the genetic basis of Familial Dysautonomia opens doors for further research and the development of potential targeted therapies. Ongoing advancements in genetic testing and research hold promise for improving the quality of life for individuals living with FD.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a central resource for information about genetic and rare diseases. It provides free access to a catalog of articles, scientific resources, and additional references for various conditions. One rare genetic condition that is covered by the center is Familial Dysautonomia (FD).

Familial Dysautonomia (FD) is a rare autosomal recessive disorder. It is caused by mutations in the IKBKAP gene. This gene is responsible for producing a protein that is important for the development and maintenance of the autonomic nervous system. The autonomic nervous system controls various involuntary functions in the body, such as heart rate, blood pressure, and body temperature.

Individuals with FD may experience episodes of autonomic dysfunction, including problems with blood pressure regulation, digestion, swallowing, and body temperature control. These symptoms can vary in frequency and severity between individuals. FD can also lead to other medical complications, such as recurrent infections and difficulty gaining weight.

Research and clinical trials are ongoing to better understand the causes, symptoms, and treatment options for FD. Current studies focus on identifying potential therapies to improve symptoms and quality of life for individuals with this condition. There are opportunities for patient participation in clinical trials, which can provide access to new treatment options and contribute to the advancement of knowledge about FD.

Genetic testing is available for FD and can help confirm a diagnosis. Testing can identify mutations in the IKBKAP gene and can be performed in specialized laboratories. Genetic counseling is also recommended for individuals and families affected by FD to understand the inheritance pattern and the risks of passing the condition on to future generations.

The Genetic and Rare Diseases Information Center provides support and advocacy for individuals and families affected by rare genetic conditions like FD. It offers a comprehensive overview of FD, its symptoms, and available treatment options. The center also provides information about support groups and resources for affected individuals and their families.

For more information about Familial Dysautonomia, visit the Genetic and Rare Diseases Information Center website. Additional resources can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov.

Patient Support and Advocacy Resources

Familial dysautonomia is a rare autosomal recessive genetic disorder characterized by problems with the autonomic and sensory nervous systems. It is associated with mutations in the IKBKAP gene, which is responsible for the production of a protein called IKAP. This protein is important for the development and function of the autonomic and sensory neurons in the body.

Patients with familial dysautonomia often have difficulties with balance, episodes of unexplained fever, poor growth, and recurrent infections. These symptoms can vary in frequency and severity from person to person.

If you or a loved one have been diagnosed with familial dysautonomia, there are several patient support and advocacy resources available that can provide information and assistance. Some of these resources include:

1. Familial Dysautonomia Foundation: This foundation is dedicated to providing support and resources for individuals and families affected by familial dysautonomia. They offer information about the condition, research updates, and opportunities for involvement in advocacy efforts.
2. National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support for individuals with rare diseases, including familial dysautonomia. They offer resources such as information on clinical trials, patient assistance programs, and advocacy opportunities.
3. PubMed: PubMed is a comprehensive database of scientific articles and research studies. It contains a wealth of information about familial dysautonomia, including genetic testing, clinical trials, and treatment options.
4. OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information about the IKBKAP gene, as well as other genes associated with familial dysautonomia.
5. FD Database: This database is a central repository of information about familial dysautonomia. It includes references to scientific articles, clinical trials, and patient resources.

In addition to these resources, it is also important to reach out to your healthcare provider for more information and support. They can provide guidance on managing symptoms, accessing specialized care, and connecting with local support groups.

Remember, you are not alone in your journey with familial dysautonomia. There are many resources available to help you navigate this rare condition and find the support you need.

Research Studies from ClinicalTrialsgov

Research studies on familial dysautonomia, also known as hereditary sensory and autonomic neuropathy type III, are ongoing to learn more about this rare genetic condition. ClinicalTrials.gov is a free online resource where you can find information about clinical trials and research studies related to familial dysautonomia and other rare diseases.

One of the main research areas focuses on understanding the genetic basis of familial dysautonomia. Scientists are studying the genes associated with the condition to learn more about their role and inheritance patterns. The condition is inherited in an autosomal recessive manner, which means both parents must pass on a copy of the mutated gene for their child to be affected.

Studies are also investigating the frequency and clinical features of familial dysautonomia, including the problems with blood pressure regulation, episodes of vomiting, and infections commonly associated with the condition.

Research studies aim to find better diagnostic tools and treatment options for individuals with familial dysautonomia. This includes investigating new medications or therapies that can help manage the symptoms and improve the quality of life for patients.

In addition to clinical trials, there are many scientific articles available on PubMed and OMIM that provide valuable information about familial dysautonomia. These resources can be helpful for healthcare professionals, researchers, and advocacy groups working to support individuals with the condition.

Overall, the research studies from ClinicalTrials.gov and other scientific sources are crucial for advancing our understanding of familial dysautonomia and finding new ways to diagnose, treat, and support individuals with this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and hereditary diseases. It provides valuable information for researchers, clinicians, and advocacy groups, offering an extensive database on rare genetic conditions.

The catalog houses detailed information about each gene and the associated diseases. It covers autosomal and X-linked genes, providing data on the inheritance patterns, clinical presentations, and frequencies of rare diseases.

For the condition familial dysautonomia, OMIM lists FDGENE as the responsible gene. Slaugenhaupt et al. discovered the FDGENE and linked it to the development of familial dysautonomia. Testing for mutations in this gene is available to confirm the diagnosis of the condition.

OMIM also provides additional resources for further research and support. It includes references to scientific articles published in PubMed, offering more in-depth information about familial dysautonomia. ClinicalTrial.gov is another resource listed, where ongoing clinical trials related to familial dysautonomia can be found.

Patients and their families can access OMIM to learn about the genetic causes of familial dysautonomia and find support from advocacy groups. The catalog helps in understanding the clinical manifestations of the condition, such as the episodes of infections, problems with balance, and the central regulation of blood pressure.

Overall, OMIM is a valuable tool for researchers, clinicians, and patients alike, offering free and rare information about hereditary diseases, inherited genes, and associated conditions. Its comprehensive and user-friendly interface makes it an essential resource in the field of genetic research.

Scientific Articles on PubMed

Familial dysautonomia is a rare genetic condition that causes problems with the autonomic nervous system. Infections, episodes of high blood pressure, and balance problems are some of the clinical signs associated with this condition.

There are several scientific articles available on PubMed that provide more information about familial dysautonomia. These articles discuss the genes associated with the condition, the inheritance pattern, and the causes of dysautonomia. Some of the articles also provide information about testing for the condition and support resources for patients and their families.

Here are the names and brief descriptions of a few articles available on PubMed:

1. “Genetic heterogeneity and autosomal inheritance in familial dysautonomia.” This study investigates the genetic heterogeneity of familial dysautonomia and provides information on the inheritance pattern of the condition.

2. “Clinical and genetic studies on familial dysautonomia.” This article discusses the clinical signs and genetic basis of familial dysautonomia. It also provides additional resources for support and advocacy for patients with the condition.

3. “Hereditary diseases of the autonomic nervous system: familial dysautonomia and other rare conditions.” This review article provides a comprehensive overview of familial dysautonomia and other rare hereditary conditions affecting the autonomic nervous system.

4. “Inherited diseases of the autonomic nervous system: a catalog of genetic, clinical, and therapeutic aspects.” This catalog includes information on the genes, clinical features, and available therapies for various inherited diseases of the autonomic nervous system, including familial dysautonomia.

5. “Genetics of familial dysautonomia and hereditary sensory neuropathy type III.” This study explores the genetic basis of familial dysautonomia and its relationship to another hereditary sensory neuropathy.

These articles, along with many others, can be found on PubMed – a valuable resource for scientific research and information on familial dysautonomia. For additional information and support, you can also visit websites like OMIM (Online Mendelian Inheritance in Man), clinicaltrialsgov, and advocacy organizations like the Familial Dysautonomia Foundation.

References

• Gene Reviews. Familial Dysautonomia. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1278/
• PubMed – A free resource for searching MEDLINE and other scientific articles. Available at: https://pubmed.ncbi.nlm.nih.gov/
• National Center for Advancing Translational Sciences – ClinicalTrials.gov. Information on current clinical trials registered with ClinicalTrials.gov. Available at: https://www.clinicaltrials.gov/
• Genetic and Rare Diseases Information Center (GARD). Familial Dysautonomia. Available at: https://rarediseases.info.nih.gov/diseases/5831/familial-dysautonomia
• OMIM – Online Mendelian Inheritance in Man. Familial Dysautonomia. Available at: https://www.omim.org/entry/223900