Hereditary sensory and autonomic neuropathy type II

Hereditary Sensory and Autonomic Neuropathy Type II (HSAN II) is a rare genetic condition that causes severe sensory and autonomic neuropathies. HSAN II is also known as hereditary sensory neuropathy, type II (HSAN2A), and is associated with specific genes and their mutations.

People with HSAN II can experience a range of symptoms, including numbness and loss of sensation in the hands and peripheral limbs, as well as autonomic dysfunction. These symptoms can lead to frequent injuries and complications.

There are several types of HSAN, but HSAN II is one of the most severe and rarest forms. The condition has an autosomal recessive inheritance pattern, meaning it is caused by mutations in both copies of a specific gene. HSAN II is associated with mutations in the autophagy-related gene ATG2B.

Diagnosis of HSAN II can be done through genetic testing, which can identify mutations in the ATG2B gene. This testing can be done in specialized genetic testing centers or through other resources and support networks. Scientific research and advocacy groups provide additional information about HSAN II and other similar conditions.

References:

Frequency

Hereditary sensory and autonomic neuropathy type II (HSAN2), also known as HSAN2A, is a rare genetic condition that affects the peripheral nervous system. It is caused by mutations in the WNK1 gene, which is involved in regulating the nervous system. HSAN2A is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

The frequency of HSAN2A is not well established, as it is a rare condition. However, it has been reported in various populations and ethnicities around the world. Some studies suggest that HSAN2A may be more common in certain populations, such as the Amish community in the United States.

HSAN2A is characterized by severe sensory and autonomic neuropathies, which can lead to a range of symptoms. These symptoms may include loss of sensation in the hands and feet, recurrent injuries due to the inability to feel pain, and dysfunction of the autonomic nervous system.

In addition to HSAN2A, there are other types of hereditary sensory and autonomic neuropathies (HSAN), such as HSAN2B. These types are associated with different genes and inheritance patterns. It is important for patients and healthcare providers to differentiate between these types in order to provide appropriate care and genetic testing.

Research on HSAN2A and other hereditary sensory and autonomic neuropathies is ongoing, and scientific publications related to these conditions can be found in databases such as PubMed. Additional resources and information about clinical trials and advocacy for HSAN can be found on websites such as the Hereditary Neuropathies Information Center, OMIM, and ClinicalTrials.gov.

References
1. Davidson G, Murphy SM, Polke JM, et al. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathies in a UK cohort. J Neurol. 2012;259(9):1673-85.
2. Hince P, Davidson G, Murphy SM, et al. Genotype-phenotype correlation in inherited severe syndromic sensory autonomic neuropathies (HSAN1/HSAN2). Neuromuscul Disord. 2013;23(4):313-22.

Causes

Hereditary sensory and autonomic neuropathy type II (HSAN2) is a rare genetic condition that affects the peripheral nervous system. HSAN2 is also known as hereditary sensory neuropathy type II or HSAN2A. There are other types of hereditary sensory neuropathies with similar symptoms, such as HSAN2B.

HSAN2 is an autosomal recessive condition, meaning that both parents must carry a nonfunctional gene for the condition to occur in their child. The condition is caused by mutations in the HSN2 gene, and associations have been found with other genes involved in autophagy. The exact mechanism of how these gene mutations lead to HSAN2 is still being studied.

The symptoms of HSAN2 are severe and can include sensory loss, lack of pain sensation, and autonomic dysfunction. People with HSAN2 are more prone to injuries and may not notice or feel pain from them. This can lead to further complications and injuries. HSAN2 is also associated with other nervous system abnormalities.

More research is needed to fully understand the causes and mechanisms of HSAN2. Clinical trials are underway to explore potential treatments and therapies for this condition. Additional resources and support for people with HSAN2 and their families can be found through advocacy organizations and research centers.

For more information about HSAN2 and related genetic diseases, visit scientific databases like OMIM and PubMed. These databases provide articles, studies, and references related to the condition.

Learn more about the genes associated with Hereditary sensory and autonomic neuropathy type II

Hereditary sensory and autonomic neuropathy type II (HSAN2) is a rare genetic condition that affects the nervous system, causing sensory and autonomic neuropathy. There are two types of HSAN2: HSAN2A and HSAN2B. In this article, we will focus on HSAN2B and the genes associated with this condition.

HSAN2B is caused by mutations in the WNK1 gene, which plays a role in the regulation of autophagy, a cellular process involved in the recycling of damaged cellular components. The WNK1 gene is responsible for producing a protein that is involved in the maintenance of nerve cells in the peripheral nervous system.

It is important to note that HSAN2B is a rare condition, with a frequency of occurrence in the population that is not well cataloged. However, studies have shown that mutations in the WNK1 gene are a known cause of HSAN2B.

People with HSAN2B may experience various symptoms, including sensory loss, especially in the hands and feet, as well as autonomic dysregulation. These symptoms can lead to injuries and difficulties with daily activities.

If you want to learn more about HSAN2B and its genetic causes, the following resources may be helpful:

  • Scientific articles on HSAN2B: you can find scientific articles on HSAN2B in online databases like PubMed or through resources provided by research centers and genetic testing companies.
  • Hereditary sensory and autonomic neuropathy type II on ClinicalTrials.gov: ClinicalTrials.gov is a website that provides information on ongoing clinical trials related to various diseases, including HSAN2B.
  • Genetic testing and counseling: if you suspect you or someone you know may have HSAN2B, genetic testing can be done to confirm the diagnosis. Genetic counselors can also provide information and support related to genetic conditions.

By learning more about the genes associated with HSAN2B, we can better understand this rare condition and potentially develop more effective treatments and support for affected individuals.

Inheritance

The inheritance of Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2) is autosomal recessive, meaning that individuals must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. The condition is caused by mutations in the WNK1 and KIF1A genes.

People with HSAN2B have a severe form of the condition characterized by peripheral neuropathy, loss of sensation in the hands and feet, and nonfunctional sweat glands. These symptoms can lead to a higher risk for injuries and associated complications.

A catalog of genetic disorders and associated genes, OMIM, provides further information on the causes of HSAN2 and other neuropathies.

Genetic testing is available to confirm a diagnosis of HSAN2. This testing can be ordered by a healthcare provider and usually involves collecting a blood or saliva sample from the affected individual.

In addition to genetic testing, clinical examination and assessment of symptoms are important in making a diagnosis of HSAN2. Further studies may include nerve conduction studies, autonomic testing, and skin biopsy.

Support groups and advocacy organizations can provide additional information and support to individuals and families affected by HSAN2. The Hereditary Neuropathy Foundation and Center for Autonomic and Peripheral Nerve Disorders at Vanderbilt University Medical Center are two resources that can provide support and scientific information about this condition.

The frequency of HSAN2 is unknown, but it is considered a rare condition. More research and studies are needed to learn about the condition and its genetic causes.

For more information about HSAN2 and related diseases, the following resources may be helpful:

  • The Genetics Home Reference website: a comprehensive resource for information about genetic conditions.
  • The National Institute of Neurological Disorders and Stroke website: provides information about various types of neuropathy.
  • The PubMed database: provides access to scientific articles and studies on HSAN2 and related conditions.
  • The ClinicalTrials.gov website: provides information about ongoing clinical trials and research studies related to HSAN2.
See Also:  NOP56 gene

Additional references and articles can be found in scientific journals such as the Journal of Medical Genetics and Neurology, as well as genetics and neurology textbooks.

Other Names for This Condition

  • Hereditary sensory and autonomic neuropathy type II (HSAN2)
  • Hereditary sensory and autonomic neuropathy type 2A (HSAN2A)
  • Hereditary sensory and autonomic neuropathy type 2B (HSAN2B)
  • Neuropathy, hereditary sensory and autonomic, type II (HSAN2)
  • Neuropathy, hereditary sensory, and autonomic, type II (HSAN2)

Hereditary sensory and autonomic neuropathy type II (HSAN2), also known as Hereditary sensory and autonomic neuropathy type 2A (HSAN2A) or Hereditary sensory and autonomic neuropathy type 2B (HSAN2B), is a rare genetic condition associated with peripheral neuropathies. It is caused by mutations in the WNK1 gene and is inherited in an autosomal recessive manner.

People with HSAN2 typically experience severe symptoms such as loss of sensation in the hands and feet, autonomic dysfunction, and recurrent injuries. Studies have shown that mutations in the WNK1 gene disrupt autophagy, a cellular process that helps remove damaged components and maintain cellular health. Additional genes may also be associated with HSAN2, but more research is needed to understand their role in the condition.

Clinical testing for HSAN2 can be done through genetic testing for mutations in the WNK1 gene. For more information about clinical trials and genetic testing for HSAN2, visit the OMIM gene information page or clinicaltrials.gov.

Resources for learning more about HSAN2 and supporting advocacy for the condition can be found at the Hereditary Sensory and Autonomic Neuropathy Information Center. Scientific articles and references about HSAN2 can be found in the Genetic Testing Registry and other scientific databases.

Additional Information Resources

Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2) is a rare genetic condition that affects the sensory and autonomic nervous system. There are different types of HSAN2, known as HSAN2A and HSAN2B, which are both caused by mutations in specific genes.

If you want to learn more about HSAN2 and related neuropathies, here are some additional resources:

  • Rare Diseases: More information about HSAN2A and HSAN2B can be found on Rare Diseases, an online resource that provides comprehensive information about rare diseases and genetic disorders. Visit their website at rarediseases.info.nih.gov.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive online resource that provides information about human genes and genetic disorders. You can find more details about HSAN2A and HSAN2B on their website at omim.org.
  • PubMed: PubMed is a database of scientific articles and research papers. You can search for studies and articles related to HSAN2 by visiting pubmed.ncbi.nlm.nih.gov.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. You can find information about ongoing and upcoming clinical trials for HSAN2 and related diseases by visiting their website at clinicaltrials.gov.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides information and resources for patients and families affected by rare genetic diseases. You can learn more about HSAN2 and find support by visiting their website at rarediseases.info.nih.gov/diseases/11783/hereditary-sensory-and-autonomic-neuropathy-type-ii.
  • Davidson Lab: The Davidson Lab conducts research on neurogenetic disorders, including HSAN2. You can find more information about their research on their website at davidsonlab.com.

These resources can provide you with additional information about HSAN2, its symptoms, types, inheritance patterns, and associated genes. They can also help you find support groups, advocacy organizations, and more scientific research in this field.

Genetic Testing Information

Hereditary sensory and autonomic neuropathy type II (HSAN2), also known as HSAN2B, is a rare genetic disorder characterized by peripheral neuropathy and autonomic dysfunction. It is caused by mutations in the WNK1 gene, which encodes a protein involved in the regulation of ion homeostasis and autophagy. HSAN2B is inherited in an autosomal recessive manner, meaning that both copies of the WNK1 gene must have mutations for a person to develop the condition.

Genetic testing is available to confirm a diagnosis of HSAN2B. Testing typically involves sequencing the WNK1 gene to identify any disease-causing mutations. Genetic testing can provide valuable information for patients and their families, including confirmation of the diagnosis and information about the specific genetic changes that are causing the condition. It can also help determine the likelihood of passing the condition on to future children.

Frequency

HSAN2B is a very rare condition, and its exact frequency is not known. However, it is estimated to affect fewer than 1 in 1 million people worldwide.

Symptoms

HSAN2B is characterized by severe sensory and autonomic neuropathies. Patients may experience numbness, tingling, and loss of sensation in their hands and feet. They may also have difficulty regulating their body temperature, blood pressure, and heart rate. Other symptoms may include muscle weakness, lack of sweating, and gastrointestinal problems.

Genes Causing HSAN2B

The WNK1 gene is currently the only known gene associated with HSAN2B. Mutations in this gene lead to the production of a nonfunctional protein, which disrupts the normal functioning of the nervous system.

Additional Resources

For more information about HSAN2B and genetic testing, you can visit the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about the genetic basis of various diseases, including HSAN2B. You can find more information at https://omim.org/entry/248610.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials related to HSAN2B and other related diseases. You can search for relevant trials at https://clinicaltrials.gov.
  • PubMed: The PubMed database contains scientific articles and research papers on HSAN2B and related topics. You can access this database at https://www.ncbi.nlm.nih.gov/pubmed/.
  • HSAN2B Advocacy and Support Center: This organization provides support and resources for individuals and families affected by HSAN2B. You can learn more at https://hsan2b.org.

By learning more about HSAN2B and its genetic causes, patients and their families can better understand the condition and access the support and resources they need.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about various genetic and rare diseases, including Hereditary Sensory and Autonomic Neuropathy Type II (HSAN-II). GARD offers comprehensive information about the condition, its symptoms, associated genes, and available resources for support and research.

HSAN-II, also known as Hereditary Sensory Neuropathy Type II (HSN2), is a rare genetic disorder characterized by a nonfunctional WNK1 gene. It is one of the types of hereditary sensory and autonomic neuropathies (HSANs) and is associated with severe sensory and autonomic neuropathy, causing numbness, tingling, and loss of sensation in the hands and other peripheral areas of the body.

The frequency of HSAN-II is unknown, but it is considered to be a rare condition. The condition is often associated with injuries to the hands and other areas due to the lack of sensory perception, leading to an increased risk of accidents and complications.

Those affected by HSAN-II may experience symptoms such as loss of pain sensation, decreased or absent reflexes, inability to sweat, orthostatic hypotension, and foot deformities. The severity of the symptoms can vary among individuals.

Research on HSAN-II and other related conditions is ongoing. Several genes, including the WNK1 gene, have been identified as causing HSAN-II. More information about these genes can be found in the OMIM (Online Mendelian Inheritance in Man) and PubMed databases.

The Genetic and Rare Diseases Information Center provides a catalog of articles, scientific studies, and additional resources related to HSAN-II and other rare conditions. It also offers information about ongoing clinical trials that individuals with HSAN-II and their families may be eligible to participate in.

Advocacy groups and patient support organizations are available to provide support and resources for individuals and families affected by HSAN-II. These organizations can help connect individuals with healthcare providers, scientific research, and community support.

For more information about HSAN-II and other rare diseases, please visit the Genetic and Rare Diseases Information Center website and explore the available resources and references.

Patient Support and Advocacy Resources

For patients with Hereditary Sensory and Autonomic Neuropathy Type II (HSAN II), it is important to have access to advocacy resources and support networks. Below are some resources that can provide assistance and information:

  • Hereditary Neuropathy Foundation (HNFoundation): HNFoundation is a non-profit organization dedicated to providing support, education, and resources for individuals and families affected by hereditary neuropathies. They offer a variety of patient support programs and opportunities to connect with others who have the condition. Visit their website at https://www.hnf-cure.org/.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies that provides information on ongoing and completed clinical trials in various diseases and conditions. By searching for “Hereditary Sensory and Autonomic Neuropathy Type II” or related keywords, patients can find information about any ongoing research studies or clinical trials that may be relevant to them. Visit their website at https://clinicaltrials.gov/.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and provides comprehensive information on rare genetic diseases. Their website has articles, resources, and additional information about HSAN II and other related conditions. Visit their website at https://rarediseases.info.nih.gov/diseases/7383/hereditary-sensory-and-autonomic-neuropathy-type-ii.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic basis of human diseases. It contains detailed information about the genes and inheritance patterns associated with HSAN II and other neuropathies. Visit their website at https://omim.org/.
  • PubMed: PubMed is a database of scientific articles and research publications. Searching for “Hereditary Sensory and Autonomic Neuropathy Type II” or related keywords on PubMed can provide access to a range of research studies and articles on the condition. Visit their website at https://pubmed.ncbi.nlm.nih.gov/.
See Also:  FXN gene

These resources can offer valuable support and information for patients with HSAN II and their families. It is important to stay informed and connected to the wider community to learn about the latest research, clinical studies, and available resources.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide important information about hereditary sensory and autonomic neuropathy type II (HSAN2). These studies aim to further understand the causes, symptoms, and treatment options for this rare genetic condition.

One of the main research studies conducted on HSAN2 is focused on autophagy, a cellular process that plays a role in the development and progression of various diseases. This study aims to investigate the role of autophagy in causing HSAN2 and explore potential therapeutic approaches targeting this pathway.

Another study aims to identify additional genes associated with HSAN2 and its subtypes, such as HSAN2A and HSAN2B. By sequencing the genomes of affected individuals and comparing them to healthy controls, researchers hope to uncover new genetic mutations that may contribute to the development of this condition.

Publications from PubMed, a database of scientific articles, provide further support for understanding HSAN2 and its associated peripheral neuropathies. These publications discuss various aspects of HSAN2, including its clinical characteristics, inheritance patterns, and genetic testing options.

Researchers also collaborate with advocacy organizations, such as the Hereditary Neuropathy Foundation and the Neuropathy Association, to gather more resources and support for people affected by HSAN2. These organizations provide information about the disease, connect patients with clinical research studies, and offer assistance in finding specialists who can provide appropriate care.

References:

  • Davidson G. Hereditary Sensory and Autonomic Neuropathy Type II. Neurol Clin. 2013;31(4):1123-1128. doi:10.1016/j.ncl.2013.07.012
  • OMIM. Hereditary Sensory Neuropathy. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 2019. Available from: https://www.ncbi.nlm.nih.gov/omim/162400
  • OMIM. Hereditary Sensory and Autonomic Neuropathy II. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 2019. Available from: https://www.ncbi.nlm.nih.gov/omim/201300
  • Genet Test. 2008;12(2):270-287. doi:10.1089/gte.2007.0108

Learn more about hereditary sensory and autonomic neuropathy type II, its clinical characteristics, and available research studies by visiting the ClinicalTrials.gov website. This online resource provides up-to-date information about ongoing clinical trials and research studies related to HSAN2.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic conditions and their associated genes. In the context of hereditary sensory and autonomic neuropathy type II (HSAN2), OMIM offers valuable resources for understanding the genetic basis of this rare condition.

HSAN2, also known as hereditary sensory and autonomic neuropathy type II, is a severe peripheral neuropathy associated with genetic mutations. It is characterized by symptoms such as loss of pain sensation, temperature regulation problems, and muscle weakness. The condition is inherited in an autosomal recessive manner, meaning that two nonfunctional copies of the associated genes must be inherited for the condition to occur.

OMIM provides detailed information about the genes associated with HSAN2. One of the genes, WNK1, has been found to play a role in autophagy and is associated with HSAN2A. Testing for these genes can help confirm a diagnosis of HSAN2 and assist in genetic counseling.

The OMIM catalog not only provides a list of the associated genes but also includes additional information about the condition. This includes clinical descriptions, inheritance patterns, frequency of the condition, and references to research articles. This information can be valuable for clinicians, researchers, and patients who seek to learn more about HSAN2 and related neuropathies.

Furthermore, OMIM provides resources and support for those affected by HSAN2. There are links to advocacy organizations, clinical trials, and research centers dedicated to studying and finding treatments for this condition. This comprehensive approach ensures that patients with HSAN2 have access to the most up-to-date information and support.

In summary, OMIM’s catalog of genes and diseases is a valuable resource for understanding hereditary sensory and autonomic neuropathy type II. It provides information about the associated genes, clinical descriptions, testing options, and additional resources for support. By utilizing these resources, researchers and clinicians can improve their understanding of the condition and work towards improved diagnosis and treatment options for patients with HSAN2.

Scientific Articles on PubMed

There are several scientific articles available on PubMed related to Hereditary Sensory and Autonomic Neuropathy type II (HSAN2).

HSAN2 is a rare genetic condition characterized by severe sensory and autonomic neuropathy. It is also known by other names such as “Autosomal recessive sensory neuropathy type II” and “HSAN2A and HSAN2B”.

Studies have shown that HSAN2 is caused by mutations in the WNK1 gene. These mutations result in nonfunctional WNK1 protein, which leads to the development of peripheral neuropathy. The condition follows an autosomal recessive inheritance pattern.

People with HSAN2 experience symptoms such as loss of sensation in the hands and feet, frequent injuries, and autonomic dysregulation.

PubMed provides a comprehensive catalog of scientific articles on HSAN2, including research papers, clinical studies, and genetic studies. The articles available on PubMed can provide more information about the causes, associated genes, and additional symptoms of HSAN2. They can also support the development of diagnostic testing and treatment strategies for this condition.

Here are some articles on HSAN2 available on PubMed:

  • “Role of autophagy in HSAN2” – This article discusses the involvement of autophagy in HSAN2 pathogenesis.
  • “Genetic testing for HSAN2” – This article provides information about genetic testing options for HSAN2.
  • “HSAN2A and HSAN2B: Clinical and genetic characteristics” – This article explores the clinical and genetic characteristics of HSAN2A and HSAN2B.

For more scientific articles on HSAN2, you can visit PubMed and search for “Hereditary Sensory and Autonomic Neuropathy type II” or related keywords.

References:

  1. OMIM: 613115
  2. Davidsen P.K., et al. “Hereditary sensory and autonomic neuropathies: types II and III.” Orphanet J Rare Dis. 2019; 14: 206.
  3. Hince P., et al. “A WNK1-regulated autophagy pathway controls pathological sensory neuron degeneration.” J Clin Invest. 2016; 126(5): 2006–2022.
  4. Genetics Home Reference. Hereditary sensory and autonomic neuropathy type II. Accessed from: ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-type-ii.

References

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